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Gene: Abhd11 MGI:1916008

Gene Summary

Name:

abhydrolase domain containing 11

Synonyms:

1110054D16Rik, A630008N09Rik, Wbscr21

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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
small superior vagus ganglion	Abhd11^em1(IMPC)Mbp	HOM	Early adult
abnormal eye morphology	Abhd11^em1(IMPC)Mbp	HOM	Early adult
hydrometra	Abhd11^em1(IMPC)Mbp	HOM	Early adult
microphthalmia	Abhd11^em1(IMPC)Mbp	HOM	Early adult
abnormal urinary bladder morphology	Abhd11^em1(IMPC)Mbp	HOM	Early adult

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Abhd11 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 Abhd11 (0 diseases)
Human diseases predicted to be associated with Abhd11 (1110 diseases)

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

The table below shows human diseases predicted to be associated to Abhd11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Sorsby Pseudoinflammatory Fundus Dystrophy	Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar...	ORPHA:59181
Bietti Crystalline Dystrophy	Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec...	ORPHA:41751
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Cataract, Nyctalopia, Reduce...	OMIM:613731
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Blindness, Cataract, Abnormal retinal vascular ...	ORPHA:791
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Blind-spot enlargment, Optic at...	OMIM:614296
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ...	OMIM:613750
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual...	ORPHA:85128
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Blindness, Cataract, Fundus atrophy, Nyctalopia, Absent foveal re...	OMIM:204100
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Vomiting,...	ORPHA:314811
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Macular Dystrophy, Patterned, 1	Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac...	OMIM:169150
Choroideremia	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d...	OMIM:303100
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co...	OMIM:616544
Birdshot Chorioretinopathy	Arcuate scotoma, Choroidal neovascularization, Blind-spot enlargment, Vitritis, Photophobia, Atte...	ORPHA:179
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Keratoconus, Macular atrophy, Nyctalopia, ...	OMIM:604393
Corneal Dystrophy, Avellino Type	Lattice corneal dystrophy, Reduced visual acuity, Visual impairment	OMIM:607541
Severe Early-Childhood-Onset Retinal Dystrophy	Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ...	ORPHA:364055
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral...	OMIM:600138
Idiopathic Panuveitis	Blindness, Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal m...	ORPHA:280921
Retinitis Pigmentosa 2	Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma...	OMIM:312600
Retinitis Pigmentosa 42	Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ...	OMIM:612943
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Truncal obesity, Childhood-onset ...	OMIM:610156
Retinopathy Of Prematurity	Tractional retinal detachment, Blindness, Small for gestational age, Retinal arteriolar tortuosit...	ORPHA:90050
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Macular Dystrophy, Patterned, 3	Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Cataract, Macul...	OMIM:180104
Stargardt Disease 3	Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment	OMIM:600110
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a...	OMIM:615147
Wagner Vitreoretinopathy	Myopia, Retinal pigment epithelial atrophy, Cataract, Visual loss, Optically empty vitreous, Opti...	OMIM:143200
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N...	OMIM:620342
X-Linked Retinoschisis	Abnormality of vision, Retinoschisis, Cataract	ORPHA:792
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,...	OMIM:605670
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Scotoma, Optic atrophy, Reduced visual acuity	OMIM:165300
Macular Dystrophy, Vitelliform, 5	Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula...	OMIM:616152
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi...	OMIM:180210
Ceroid Lipofuscinosis, Neuronal, 3	Blindness, Cataract, Optic atrophy, Reduced visual acuity, Macular degeneration, Progressive visu...	OMIM:204200
Foveal Hypoplasia-Presenile Cataract Syndrome	Abnormality of vision, Cataract, Optic atrophy	ORPHA:2253
Macular Dystrophy, Patterned, 2	Drusen, Pattern dystrophy of the retina, Reduced visual acuity, Foveal hyperpigmentation	OMIM:608970
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Nyctalopia,...	OMIM:618220
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Cataract, Nyctalopia, Rod-cone dystrophy, Attenuation of...	OMIM:613801
Leber Congenital Amaurosis 1	Keratoconus, Blindness, Cataract, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc d...	OMIM:204000
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Developmental glaucoma, Insulinoma, Multiple pancreatic beta-cell ade...	OMIM:147630
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia,...	OMIM:614186
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Cataract, Photophobia, Truncal obesity, Progressive night bli...	ORPHA:75858
Mucous Membrane Pemphigoid	Atypical scarring of skin, Blindness, Corneal opacity	ORPHA:46486
Optic Atrophy 9	Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s...	OMIM:616289
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment...	ORPHA:97341
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ...	OMIM:608051
Sorsby Fundus Dystrophy	Macular dystrophy, Blindness, Chorioretinal atrophy	OMIM:136900
Retinal Dystrophy And Obesity	Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual...	OMIM:616188
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Patchy atrophy of the retinal pigme...	ORPHA:67042
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Reduced visual acuity, Developmental cataract, Posterior synechiae of the anteri...	OMIM:616722
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Constriction of peripheral visual field, Cataract, Chorioretinal degeneration,...	ORPHA:414
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho...	OMIM:610356
Intermediate Uveitis	Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ...	ORPHA:279914
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula...	OMIM:136550
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co...	OMIM:607921
Macular Dystrophy, Vitelliform, 2	Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ...	OMIM:153700
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Subcapsular cat...	OMIM:600059
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Very low visual acuity, Corneal opacity, Chorioretinal degeneration,...	ORPHA:98973
Macular Dystrophy, Vitelliform, 3	Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho...	OMIM:608161
Retinitis Pigmentosa 29	Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:612165
Cataract 11, Multiple Types	Blindness, Cataract, Developmental cataract	OMIM:610623
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Reduced visual acuity, Developmental catar...	OMIM:604229
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Exudative Vitreoretinopathy 4	Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm...	OMIM:601813
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu...	OMIM:617781
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Posterior subcapsular catarac...	OMIM:258870
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Blindness, Dysphagia, Developmental cataract	OMIM:607674
Cone-Rod Dystrophy, X-Linked, 1	Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu...	OMIM:304020
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R...	OMIM:614181
Exudative Vitreoretinopathy 1	Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi...	OMIM:133780
Retinitis Pigmentosa Inversa With Deafness	Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Macular dystrophy, Blindness, Reduced visual acuity	OMIM:601553
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Rod-cone dystrophy, Cataract	OMIM:300719
Retinal Capillary Malformation	Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre...	ORPHA:71213
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Diarrhea, Hyperinsulinemia, Vomiting, Failure to thrive	OMIM:606528
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color...	OMIM:608850
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f...	OMIM:300476
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C...	OMIM:616108
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Retinal dystrophy, Obesity, Cataract	OMIM:615995
Leber Congenital Amaurosis 12	Congenital blindness, Abnormality of macular pigmentation	OMIM:610612
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin...	OMIM:617406
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Vitreoretinochoroidopathy	Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Pulverulent cataract, De...	OMIM:193220
Ceroid Lipofuscinosis, Neuronal, 7	Blindness, Visual loss, Optic atrophy, Pigmentary retinopathy, Retinopathy	OMIM:610951
Retinitis Pigmentosa 35	Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:610282
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin...	OMIM:617123
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph...	OMIM:609913
Exudative Vitreoretinopathy 5	Reduced visual acuity, Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal f...	OMIM:613310
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Hypoglycemia, Vis...	ORPHA:5
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:610359
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:601718
Usher Syndrome Type 3	Cataract, Scotoma, Visual loss, Nyctalopia, Hemianopia, Astigmatism, High hypermetropia, Iris hyp...	ORPHA:231183
Senior-Loken Syndrome 6	Rod-cone dystrophy, Reduced visual acuity, Visual impairment	OMIM:610189
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:617304
Retinitis Pigmentosa 70	Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma...	OMIM:615922
Retinitis Pigmentosa 7	Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a...	OMIM:608133
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Retinitis Pigmentosa 47	Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment	OMIM:613758
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Microcornea, Buphthalmos, Anterio...	OMIM:269400
Macular Dystrophy, Vitelliform, 1	Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ...	OMIM:153840
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate...	OMIM:618173
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo...	OMIM:256450
Cataract 42	Myopia, Cataract, Developmental cataract	OMIM:115900
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Shallow ante...	OMIM:267760
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization, Reduced visual acuity	OMIM:616118
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Photophobia, Pseudophakia, Posterior uveitis, Corneal kerati...	ORPHA:209959
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v...	ORPHA:94058
Cone-Rod Dystrophy 12	Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui...	OMIM:612657
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1	Retinal telangiectasia, Retinal nerve fiber edema, Central scotoma, Central retinal vessel vascul...	OMIM:619382
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri...	OMIM:619007
Retinitis Pigmentosa 68	Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu...	OMIM:615725
Chromosome Xq21 Deletion Syndrome	Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at...	OMIM:303110
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Redu...	OMIM:309300
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati...	OMIM:601820
Corneal Dystrophy, Epithelial Basement Membrane	Corneal dystrophy, Map-dot-fingerprint corneal dystrophy, Reduced visual acuity, Recurrent cornea...	OMIM:121820
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi...	OMIM:180100
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:180105
Macular Dystrophy, Retinal, 4	Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a...	OMIM:619977
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Diarr...	OMIM:600955
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho...	OMIM:613660
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:615233
Maternally-Inherited Diabetes And Deafness	Cataract, Abnormal chorioretinal morphology, Constipation, Type II diabetes mellitus, Macular dys...	ORPHA:225
Achromatopsia	Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m...	ORPHA:49382
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Ultra-low vision wi...	OMIM:612109
Retinitis Pigmentosa 37	Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Posterior subcaps...	OMIM:611131
Usher Syndrome Type 1	Cataract, Scotoma, Abnormal dental enamel morphology, Visual loss, Nyctalopia, Hemianopia, High h...	ORPHA:231169
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:613983
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Microcornea, Posterior synechiae ...	OMIM:610256
Retinitis Pigmentosa 78	Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac...	OMIM:617433
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ...	OMIM:221900
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Blind-spot enlargment, Cerulean cataract, Central scotoma, Reduced visual acui...	OMIM:616732
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Mildly reduced visual acuity, Cataract, Vitreous floaters, Lattice retinal de...	OMIM:614292
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Cataract 9, Multiple Types	Progressive cataract, Cataract, Amblyopia, Developmental cataract, Microcornea, Iris coloboma, Vi...	OMIM:604219
Newfoundland Rod-Cone Dystrophy	Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect	OMIM:607476
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Blindness, Optic atrophy, Severely reduced visual acuity	OMIM:309555
Retinitis Pigmentosa 38	Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a...	OMIM:613862
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,...	ORPHA:215
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:613581
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Congenita...	ORPHA:436182
Retinitis Pigmentosa 20	Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of...	OMIM:613794
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:617871
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Corneal Dystrophy, Lattice Type Iiia	Corneal erosion, Reduced visual acuity, Visual impairment, Lattice corneal dystrophy	OMIM:608471
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu...	OMIM:612712
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Retinitis Pigmentosa 54	Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i...	OMIM:613428
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Hyperinsulinemia, ...	ORPHA:3085
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Chromosome 16Q12 Duplication Syndrome	Cataract, Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Ph...	OMIM:619649
Corneal Dystrophy, Gelatinous Drop-Like	Corneal dystrophy, Reduced visual acuity, Photophobia, Visual impairment, Blurred vision	OMIM:204870
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:616469
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi...	ORPHA:52427
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:617460
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Blindness, Cataract, Abnormality of retinal pigmentation, Visual loss, Lens s...	ORPHA:171844
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph...	OMIM:616079
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N...	OMIM:300029
Choroideremia	Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua...	ORPHA:180
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning, Reduced visual acuity, Photophobia, Hyperglycemia	OMIM:618970
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Retinitis Pigmentosa 18	Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ...	OMIM:601414
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con...	OMIM:613194
Retinitis Pigmentosa 71	Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c...	OMIM:616394
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal mo...	ORPHA:370097
Åland Islands Eye Disease	Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ...	ORPHA:178333
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ...	ORPHA:324575
Gombo Syndrome	Microphthalmia	OMIM:233270
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Obesity, High myopia,...	OMIM:613464
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Blindness, Ring scotoma, Cataract, Flexion contracture o...	OMIM:609033
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy	ORPHA:1574
Ceroid Lipofuscinosis, Neuronal, 1	Blindness, Flexion contracture, Optic atrophy, Macular degeneration, Progressive visual loss, Ret...	OMIM:256730
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:616502
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Blindness, Constriction of peripheral visual field, Cataract, Nyctalopia, Poster...	OMIM:300578
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten...	OMIM:614180
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:602772
Stargardt Disease 4	Macular degeneration, Retinal flecks, Reduced visual acuity	OMIM:603786
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:618144
Retinitis Pigmentosa 69	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath...	OMIM:615780
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Blindness, Rod-cone dystrophy, Retinopathy	OMIM:551500
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:600132
Leber Congenital Amaurosis 14	Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ...	OMIM:613341
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Cataract-Microcornea Syndrome	Myopia, Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, High myopia, Shallow anterior chamber, Posterior synechiae of the a...	OMIM:613195
Obesity Due To Melanocortin 4 Receptor Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t...	ORPHA:71529
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu...	OMIM:600977
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio...	OMIM:600852
Retinitis Pigmentosa 63	Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision	OMIM:614494
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Myopia, Cataract, Patchy atrophy of the retina...	OMIM:616468
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Sandhoff Disease	Cherry red spot of the macula, Blindness, Failure to thrive	ORPHA:796
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Cataract, Hypoglycemia, Iris hypopigmentation	ORPHA:67048
Congenital Microcoria	Blindness, Axial myopia, Iris hypopigmentation, Nyctalopia, Developmental cataract, Photophobia, ...	ORPHA:566
Norrie Disease	Retinal detachment, Blindness, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia o...	OMIM:310600
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Photophobia, High hypermetropia, Severely reduced visual acuity, Attenuati...	OMIM:613826
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract, Small for gestational age, Increased serum serotonin	ORPHA:85288
Cone Rod Dystrophy	Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect	ORPHA:1872
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Foveal Hypoplasia 2	Hypoplasia of the fovea, Reduced visual acuity, Astigmatism, Axenfeld anomaly, Foveal hyperpigmen...	OMIM:609218
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Posterior subcapsular cat...	OMIM:613810
Usher Syndrome, Type Iiia	Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect	OMIM:276902
Temporal Arteritis	Blindness, Retinal arteritis	OMIM:187360
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Achromatopsia 3	Cataract, Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatops...	OMIM:262300
Bardet-Biedl Syndrome 5	Reduced visual acuity, Obesity, Hypogonadism, Macular dystrophy, Rod-cone dystrophy	OMIM:615983
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular p...	OMIM:613835
Stickler Syndrome Type 2	Retinal detachment, Myopia, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retino...	ORPHA:90654
Achromatopsia 7	Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a...	OMIM:616517
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Posterior subcapsular cat...	OMIM:618195
Cln3 Disease	Blindness, Cataract, Bull's eye maculopathy, Amblyopia, Optic atrophy, Increased circulating andr...	ORPHA:228346
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma...	OMIM:618826
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:613582
X-Linked Corneal Dermoid	Visual loss, Abnormal pupil morphology, Corneal opacity, Visual impairment	ORPHA:1661
Nephronophthisis 15	Blindness, Obesity, Retinal degeneration	OMIM:614845
Methanol Poisoning	Blindness, Diarrhea, Abnormal optic nerve morphology, Vomiting, Type II diabetes mellitus, Type I...	ORPHA:31825
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm...	OMIM:608194
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation	Keratitis, Absent retinal pigment epithelium, Reduced visual acuity, Failure to thrive, Visual im...	OMIM:122430
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Retinitis Pigmentosa 85	Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity	OMIM:618345
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Visual field defect	OMIM:618880
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Optic Pathway Glioma	Papilledema, Blindness, Precocious puberty, Visual loss, Optic atrophy, Reduced visual acuity, Vi...	ORPHA:2086
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Herpes Simplex Virus Stromal Keratitis	Blindness, Keratitis, Deep anterior chamber, Reduced visual acuity, Herpetiform corneal ulceratio...	ORPHA:137599
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma...	ORPHA:91495
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Hypoglycemia	OMIM:609016
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Reduced visual acuity, Photophobia, Iris transillumination defect, Chori...	OMIM:619165
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:606068
Cone Dystrophy 4	Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi...	OMIM:613093
Bardet-Biedl Syndrome 4	Nyctalopia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Reduced visual acuity, Hypoplasia of the iris, Anterior syne...	OMIM:614195
Retinitis Pigmentosa 92	Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,...	OMIM:619614
Macular Dystrophy With Central Cone Involvement	Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi...	OMIM:616170
Cavitary Optic Disc Anomalies	Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect	OMIM:611543
Prolonged Electroretinal Response Suppression 2	Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity...	OMIM:620344
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Reduc...	ORPHA:79098
Retinitis Pigmentosa 6	Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin...	OMIM:312612
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Blindness, Diarrhea, Pigmentary retinopathy, Vomiting, Type I diabetes mellitus, Failure to thrive	OMIM:560000
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Retinitis Pigmentosa	Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ...	OMIM:268000
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, High myopia, Microcornea, Cortical pulver...	OMIM:610202
Retinitis Pigmentosa 59	Failure to thrive, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ro...	OMIM:613861
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Corneal opacity, Moderately reduced visual acuity, Isosexual precocious puber...	ORPHA:2788
Leber Congenital Amaurosis 15	Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Posterior subcaps...	OMIM:613843
Intestinal Dysmotility Syndrome	Projectile vomiting, Cataract, Diarrhea, Weight loss, Failure to thrive	OMIM:620045
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ...	OMIM:602093
X-Linked Neurodegenerative Syndrome, Hamel Type	Blindness	ORPHA:85336
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m...	ORPHA:436274
Solitary Fibrous Tumor	Hypoglycemia, Diplopia, Weight loss, Recurrent hypoglycemia, Constipation, Hypoinsulinemia	ORPHA:2126
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Hyperi...	ORPHA:276580
Blue Cone Monochromacy	Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen...	OMIM:303700
Acute Zonal Occult Outer Retinopathy	Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con...	ORPHA:284454
Juvenile Glaucoma	Optic neuropathy, Central scotoma, Abnormality iris morphology, Peripheral visual field loss, Hig...	ORPHA:98977
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Tritanopia	Abnormal retinal morphology, Reduced visual acuity, Color vision test abnormality, Photophobia, T...	ORPHA:88629
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina...	OMIM:193235
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating...	ORPHA:453533
Fleck Retina, Familial Benign	Nyctalopia, Retinal flecks, Visual impairment	OMIM:228980
Bothnia Retinal Dystrophy	Macular degeneration, Nyctalopia, Retinal dystrophy	OMIM:607475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Blindness, Myopia, Cataract, Optic nerve hypoplasia	OMIM:615181
Behr Syndrome	Blindness, Achilles tendon contracture, Optic atrophy, Hypoplastic optic chiasm, Adductor longus ...	OMIM:210000
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi...	OMIM:210370
Cerebral Sclerosis, Diffuse, Scholz Type	Blindness	OMIM:302700
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
2Q24 Microdeletion Syndrome	Cataract, Small for gestational age, Camptodactyly of finger, Abnormality iris morphology, Failur...	ORPHA:1617
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Fundus Albipunctatus	Nyctalopia, Retinal flecks, Fundus albipunctatus	OMIM:136880
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi...	OMIM:600105
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Infantile Refsum Disease	Failure to thrive, Constriction of peripheral visual field, Cataract, Nyctalopia, Optic atrophy, ...	ORPHA:772
Biemond Syndrome Type 2	Hypogonadism, Microphthalmia, Hypospadias, Hypogonadotropic hypogonadism	ORPHA:141333
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo...	ORPHA:209943
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Flynn-Aird Syndrome	Myopia, Cataract, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type...	ORPHA:2047
Nanophthalmos	Microphthalmia	ORPHA:35612
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Obesity, Truncal obesity, Astigmatism, Hypergl...	OMIM:615986
Exudative Vitreoretinopathy 3	Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ...	OMIM:605750
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Optic Atrophy 12	Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I...	OMIM:618977
Wolfram Syndrome, Mitochondrial Form	Blindness, Diabetes mellitus, Optic atrophy, Diabetes insipidus	OMIM:598500
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H...	ORPHA:280356
Aniridia 2	Cataract, Amblyopia, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Retinitis Pigmentosa 23	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Posteri...	OMIM:300424
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Reduced visual acuity, Cataract	OMIM:619082
Severe Canavan Disease	Blindness, Oral-pharyngeal dysphagia, Optic atrophy, Gastroesophageal reflux, Vomiting	ORPHA:314911
Galactokinase Deficiency	Cataract, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinem...	ORPHA:79237
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Myopia, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane,...	ORPHA:1067
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch...	OMIM:601777
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Blindness, Optic atrophy	ORPHA:2787
Retinal Cone Dystrophy 3A	Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia	OMIM:610024
Alstrom Syndrome	Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Hypergonadotropic hy...	OMIM:203800
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction...	OMIM:615973
X-Linked Immunoneurologic Disorder	Nyctalopia, Cataract	ORPHA:2571
Narp Syndrome	Optic disc pallor, Abnormal visual field test, Blindness, Constriction of peripheral visual field...	ORPHA:644
Night Blindness, Congenital Stationary, Type 1F	Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ...	OMIM:615058
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H...	ORPHA:293964
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Myopia, Abnormal retinal vascular morphology, Nyctalopia, He...	ORPHA:1390
Usher Syndrome, Type Iid	Nyctalopia, Rod-cone dystrophy	OMIM:611383
Diarrhea 13	Recurrent hypoglycemia, Failure to thrive, Secretory diarrhea, Vomiting	OMIM:620357
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v...	OMIM:605549
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Myopic astigmatism, Absent foveal reflex, ...	OMIM:216900
Atypical Pantothenate Kinase-Associated Neurodegeneration	Retinopathy, Blindness, Optic atrophy, Dysphagia	ORPHA:216873
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H...	OMIM:617879
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Retinitis Pigmentosa 75	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co...	OMIM:617023
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Excessive insulin response to glucagon test, Large for gestational age, Hyperinsulinemia, Hypogly...	ORPHA:276575
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, High myopia, Iris transillumination defect, Ectopia...	OMIM:225200
Cataract 17, Multiple Types	Amblyopia, Reduced visual acuity, Pulverulent cataract, Developmental cataract, Microcornea, Nucl...	OMIM:611544
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy	OMIM:179840
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism	OMIM:615524
Uveal Melanoma	Retinal detachment, Metamorphopsia, Photopsia, Iris melanoma, Visual loss, Inferior lens subluxat...	ORPHA:39044
Canavan Disease	Abnormality of retinal pigmentation, Blindness, Flexion contracture, Optic atrophy, Gastroesophag...	ORPHA:141
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Cataract, Small for gestational age, Decreased body weight	OMIM:618392
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:620102
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
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Myopathy, Tubular Aggregate, 1	Joint contracture, Nyctalopia, Flexion contracture, Abnormal pupil morphology	OMIM:160565
Enhanced S-Cone Syndrome	Cataract, Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Reti...	OMIM:268100
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin...	OMIM:620228
Leber Congenital Amaurosis 7	Photophobia, Keratoconus, Cataract, Visual impairment	OMIM:613829
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Optic atrophy	OMIM:274270
Migraine, Familial Hemiplegic, 3	Photophobia, Blindness	OMIM:609634
Peroxisome Biogenesis Disorder 9B	Cataract, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Rod-cone dy...	OMIM:614879
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Leukodystrophy, Hypomyelinating, 14	Blindness	OMIM:617899
Optic Atrophy 1	Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Centrocecal sco...	OMIM:165500
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Reduced visual ...	ORPHA:2334
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Bestrophinopathy, Autosomal Recessive	Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks	OMIM:611809
Alpha-N-Acetylgalactosaminidase Deficiency	Blindness, Cataract, Gastroesophageal reflux, Constipation	ORPHA:3137
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:612095
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Stiff Skin Syndrome	Myopia, Cataract, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Gastroesoph...	OMIM:184900
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure	ORPHA:369873
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott...	OMIM:610478
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Reduced visual acuity, Opacification of the corneal stroma	OMIM:217400
Usher Syndrome Type 2	Myopia, Cataract, Scotoma, Abnormal dental enamel morphology, Visual loss, Nyctalopia, Hemianopia...	ORPHA:231178
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Failure to thrive, Cataract	ORPHA:2278
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:604367
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Obesity	ORPHA:329249
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Nyctalopia	OMIM:618632
Fuchs Endothelial Corneal Dystrophy	Corneal opacity, Visual loss, Nyctalopia, Abnormal Descemet membrane morphology, Abnormal corneal...	ORPHA:98974
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia...	OMIM:300843
Cone-Rod Dystrophy 18	Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment...	OMIM:615374
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Corneal Dystrophy, Meesmann, 1	Photophobia, Corneal dystrophy, Punctate opacification of the cornea, Reduced visual acuity	OMIM:122100
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn...	OMIM:613154
Bardet-Biedl Syndrome 1	Myopia, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Diabetes mellitus, ...	OMIM:209900
Hsd10 Disease, Infantile Type	Blindness, Hypoglycemia, Visual loss, Optic atrophy, Dysphagia, Rod-cone dystrophy, Retinal degen...	ORPHA:391428
Bardet-Biedl Syndrome 3	Nyctalopia, Obesity, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment	OMIM:600151
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Progressive visual loss, Visual...	ORPHA:3156
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Nyctalopia, Bitot spots of the conjunctiva	OMIM:277350
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, Amblyopia, Blue irides, Reduced visual acuity, Depigmented fundus, Photo...	ORPHA:352731
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Blindness, Corneal dystrophy, Abnormal retinal v...	ORPHA:3205
Cataract 2, Multiple Types	Amblyopia, Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Photophobia...	OMIM:604307
Macrophthalmia, Colobomatous, With Microcornea	Myopia, Flat cornea, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Microcornea, Sh...	OMIM:602499
Usher Syndrome	Abnormality of retinal pigmentation, Blindness, Myopia, Cataract, Abnormal dental enamel morpholo...	ORPHA:886
Cach Syndrome	Blindness, Cataract, Flexion contracture, Optic atrophy, Optic neuritis, Vomiting, Dysphagia, Art...	ORPHA:135
Cataract 48	Cataract, Reduced visual acuity, Amblyopia	OMIM:618415
Laurence-Moon Syndrome	Type II diabetes mellitus, Cataract, Iris coloboma, Obesity	ORPHA:2377
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	High hypermetropia, Inguinal hernia, Cataract, Umbilical hernia	ORPHA:1373
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract, High myopia	OMIM:619781
Martsolf Syndrome 2	Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Developmental cataract, Decreas...	OMIM:619420
Non-Functioning Pituitary Adenoma	Bitemporal hemianopia, Decreased response to growth hormone stimulation test, Reduced circulating...	ORPHA:91349
Isolated Aniridia	Cataract, Visual loss, Peters anomaly, Aniridia, Aplasia/Hypoplasia of the macula	ORPHA:250923
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic renal dysplasia	OMIM:613730
Alpha-Methylacyl-Coa Racemase Deficiency	Constriction of peripheral visual field, Cataract, Hypergonadotropic hypogonadism, Pigmentary ret...	OMIM:614307
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Cataract, Hypoglycemia, Dysphagia	OMIM:618958
Night Blindness, Congenital Stationary, Type 1H	Hypermetropia, Photophobia, Nyctalopia, Mild myopia	OMIM:617024
Idiopathic Uveal Effusion Syndrome	Metamorphopsia, Abnormal anterior eye segment morphology, Reduced visual acuity, Subretinal fluid...	ORPHA:209956
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe...	OMIM:613756
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Amblyopia, Optic disc coloboma	ORPHA:35737
Immunoneurologic Disorder, X-Linked	Nyctalopia, Small for gestational age	OMIM:300076
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Constriction of peripheral visual field, Cataract, Female...	OMIM:240300
Stickler Syndrome, Type V	Cataract, Retinal detachment, Vitreoretinopathy, High myopia	OMIM:614284
Autosomal Dominant Optic Atrophy, Classic Form	Cataract, Diabetes mellitus, Moderately reduced visual acuity, Morning glory anomaly, Central sco...	ORPHA:98673
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Impaired glucose tolerance, Nyctalopia, Obesity, Glucose intolerance, Retinal degeneration	OMIM:615630
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Myopia, Abnormal pupil morphology, Ocular albinism, Photophobia, Astigma...	ORPHA:54
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy...	OMIM:616033
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology, Sever...	ORPHA:65
Erythrokeratodermia Variabilis	Diabetes mellitus, Cataract, Corneal opacity, Weight loss	ORPHA:317
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Blindness, Myopia, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormali...	ORPHA:370959
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Myopia, Blue irides, Reduced visual acuity, Hypopigmentation of the fund...	OMIM:203200
Krabbe Disease	Blindness, Failure to thrive, Optic atrophy, Vomiting	OMIM:245200
Maternal Uniparental Disomy Of Chromosome 1	Type I diabetes mellitus, Failure to thrive, Cataract, Gastroesophageal reflux	ORPHA:251009
Hemochromatosis, Type 4	Diabetes mellitus, Cataract, Impaired glucose tolerance, Glucose intolerance	OMIM:606069
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Progre...	ORPHA:436245
Short Syndrome	Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal dental enamel morphology, Ing...	ORPHA:3163
Autosomal Recessive Stickler Syndrome	Retinal detachment, Myopia, Cataract, Amblyopia, Vitreoretinopathy, Astigmatism	ORPHA:250984
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Nongran...	ORPHA:91500
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Bowel incontine...	ORPHA:88628
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Cone-Rod Dystrophy 10	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M...	OMIM:610283
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Peripheral v...	OMIM:268315
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, T...	ORPHA:290
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity	OMIM:618406
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia	OMIM:120433
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Leber Congenital Amaurosis 3	Visual loss, Nyctalopia, Constriction of peripheral visual field	OMIM:604232
Short Syndrome	Myopia, Rieger anomaly, Cataract, Small for gestational age, Inguinal hernia, Lipodystrophy, Lipo...	OMIM:269880
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	OMIM:601794
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Blindness, Opacification of the corneal stroma	OMIM:204850
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Reduc...	OMIM:612989
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Blindness, Weight loss, Pigmentary retinopathy, Dysphagia, Rod-cone dystrophy	ORPHA:216866
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Reduced visual acuity, Retinal coloboma, Lens subluxation, Iris co...	OMIM:216820
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	ORPHA:363741
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Myopia, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lac...	OMIM:152950
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Blindness, Visual loss, Optic atrophy, Progressive visual loss, Dysphagia, Visual impairment	OMIM:601338
Combined Oxidative Phosphorylation Deficiency 34	Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co...	OMIM:617872
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Retinitis Pigmentosa 93	Rod-cone dystrophy, Constriction of peripheral visual field, Retinal dots, Reduced visual acuity	OMIM:619845
Tenorio Syndrome	Hypoglycemia, Keratoconjunctivitis sicca, Gastroesophageal reflux, Recurrent aphthous stomatitis,...	OMIM:616260
Obesity And Hypopigmentation	Hyperinsulinemia, Obesity	OMIM:620195
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Large central visual field defect, Blindness, Visual loss, Pigmentary retinopa...	ORPHA:79264
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Decreased response to growth hormone stimulation test, Developmental cataract, Fasting ...	ORPHA:436174
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Microcornea, Anterior synechiae of the anterior chamber, High hypermetropia, Iris coloboma, Iris ...	ORPHA:3214
Leukoencephalopathy With Vanishing White Matter 1	Decreased circulating progesterone, Blindness, Primary gonadal insufficiency, Optic atrophy	OMIM:603896
Cofs Syndrome	Hypogonadism, Microphthalmia, Optic atrophy	ORPHA:1466
Ophthalmomandibulomelic Dysplasia	Blindness, Corneal opacity, Camptodactyly of finger, Megalocornea	ORPHA:2741
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Optic atrophy, Optic disc pallor	OMIM:616171
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Nyctalopia, Diabetes mellitus, Visual impairment	ORPHA:96
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Hyperopic astigmatism, Reduced visual acuity, Visual impairment, Obesity	OMIM:606772
Pierson Syndrome	Retinal detachment, Blindness, Rieger anomaly, Remnants of the hyaloid vascular system, Cataract,...	OMIM:609049
Cohen Syndrome	Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational a...	OMIM:216550
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc...	ORPHA:440727
X-Linked Intellectual Disability, Najm Type	Myopia, Cataract, Optic nerve hypoplasia, Optic atrophy, Chorioretinal coloboma, Failure to thriv...	ORPHA:163937
Isolated Atp Synthase Deficiency	Blindness, Cataract, Optic atrophy, Hypogonadism, Rod-cone dystrophy, Hypothyroidism	ORPHA:254913
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:1528
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Retinitis Pigmentosa 74	Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity, Obesity, Pigme...	OMIM:616562
Retinitis Pigmentosa 89	Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Hyperautofluorescent retin...	OMIM:618955
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Moderately reduced visual acuity, Retinal coloboma, Chorioretinal coloboma, Severely reduced visu...	ORPHA:2921
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Diarrhea, Hyperinsulinemia, Increased body weight, Glycosuria, Vomitin...	ORPHA:263455
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney	OMIM:619318
Edict Syndrome	Keratoconus, Reduced visual acuity, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior po...	OMIM:614303
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Obesity, Visual impairment	ORPHA:893
Isolated Complex I Deficiency	Optic disc pallor, Blindness, Diabetes mellitus, Hypoglycemia, Optic neuropathy, Vomiting, Failur...	ORPHA:2609
Maternal Uniparental Disomy Of Chromosome 4	Nyctalopia, Diarrhea, Optic atrophy, Visual field defect, Pigmentary retinopathy, Decreased body ...	ORPHA:96180
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Blurred vision, Reduced vis...	ORPHA:98963
Developmental Malformations-Deafness-Dystonia Syndrome	Blindness, Cataract, Dysphagia, Achalasia	ORPHA:79107
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal external genitalia	ORPHA:3469
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Blindness, Cataract, Central scotoma, Optic atrophy, Failure to thrive, Visual impairment	ORPHA:543470
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Myopia, Cataract, Retinal thinning, Asteroid hyalosis	OMIM:132450
Infantile Neuronal Ceroid Lipofuscinosis	Visual loss, Blindness, Progressive visual field defects, Dysphagia	ORPHA:79263
Isolated Succinate-Coq Reductase Deficiency	Blindness, Reduced visual acuity, Knee flexion contracture, Weight loss, Pigmentary retinopathy	ORPHA:3208
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Blindness, Failure to thrive	OMIM:250940
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Nyctalopia, Failure to thrive	ORPHA:79301
Xfe Progeroid Syndrome	Blindness, Cachexia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Enamel hypopla...	OMIM:610965
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Reduced visual acuity, Microcornea, Ocular an...	OMIM:615145
Blue Diaper Syndrome	Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, ...	ORPHA:94086
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Myopia, Ectopia lentis, Deep anterior chamber, Microspherophakia, Hypermetropia, Bu...	OMIM:251750
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin	OMIM:617885
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Microphtha...	OMIM:617914
Ectodermal Dysplasia-Blindness Syndrome	Blindness, Cataract, Corneal dystrophy, Sclerocornea, Abnormality of vision, Microcornea, Keratoc...	ORPHA:1806
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Inguinal hernia, Corneal dystrophy, Reduced visual acuity, Ectopia pupillae, Corneal...	OMIM:609141
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Hematochezia, Pigmentary retinopathy, Hypogonadism, Type II diabetes mellitus, Homonymo...	ORPHA:79095
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Autosomal Dominant Optic Atrophy And Cataract	Blindness, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Anterior cortica...	ORPHA:67036
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
White-Sutton Syndrome	Ventral hernia, Myopia, Blindness, Inguinal hernia, Congenital diaphragmatic hernia, Optic atroph...	ORPHA:468678
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot...	ORPHA:370091
Ophthalmomandibulomelic Dysplasia	Blindness, Opacification of the corneal stroma, Megalocornea	OMIM:164900
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Blindness, Visual loss, Reduced visual acuity, Abnormal fundus morpholog...	ORPHA:94147
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Stickler Syndrome Type 1	Retinal detachment, Myopia, Cataract, Visual loss, Abnormal vitreous humor morphology	ORPHA:90653
Refsum Disease	Abnormality of retinal pigmentation, Cataract, Nyctalopia, Abnormality of vision, Progressive vis...	ORPHA:773
Norrie Disease	Retinal detachment, Blindness, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology,...	ORPHA:649
Mitochondrial Complex I Deficiency, Nuclear Type 4	Blindness, Vomiting	OMIM:618225
Meckel Syndrome, Type 8	Anophthalmia, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthalmia, Enlarged kidney	OMIM:613885
Corneal Dystrophy, Reis-Bucklers Type	Corneal opacity, Corneal dystrophy, Corneal erosion, Reduced visual acuity, Photophobia, Opacific...	OMIM:608470
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Stickler Syndrome, Type I	Retinal detachment, Myopia, Blindness, Cataract, Vitreoretinopathy, Membranous vitreous appearanc...	OMIM:108300
Warburg Micro Syndrome 1	Microphthalmia, Optic atrophy, External genital hypoplasia, Cryptorchidism	OMIM:600118
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Aniridia 3	Aniridia, Cataract, Reduced visual acuity	OMIM:617142
Albinism, Oculocutaneous, Type Vii	Photophobia, High hypermetropia, Iris transillumination defect, Reduced visual acuity	OMIM:615179
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene...	OMIM:613767
Refsum Disease, Classic	Nyctalopia, Rod-cone dystrophy, Retinal degeneration, Cataract	OMIM:266500
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Amblyopia, Ectopia pupillae, Visual impairment	ORPHA:1885
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Blindness, Abnormality of macular pigmentation	ORPHA:1573
Prolactinoma	Bitemporal hemianopia, Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Hemianopia, De...	ORPHA:2965
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t...	ORPHA:79644
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Joubert Syndrome With Oculorenal Defect	Blindness, Retinal dystrophy, Chorioretinal coloboma, Abnormality of the hypothalamus-pituitary a...	ORPHA:2318
Cone-Rod Dystrophy 19	Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my...	OMIM:615860
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Albinism, Ocular, Type I	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Depigmented fundus, Photophobia	OMIM:300500
Late Infantile Neuronal Ceroid Lipofuscinosis	Myopia, Blindness, Visual loss, Reduced visual acuity, Astigmatism, Retinal degeneration	ORPHA:168491
Microphthalmia-Brain Atrophy Syndrome	Blindness, Vomiting	ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Central opacification of the cornea, Abnormal corneal epithelium...	ORPHA:98962
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism, Abnormality of peripheral nerve conduction	ORPHA:48431
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Reduced visual acuity, Hypermetropia, Corneal arcus, ...	OMIM:217300
X-Linked Endothelial Corneal Dystrophy	Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology, Reduced visual acuity...	ORPHA:293621
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Gm1 Gangliosidosis	Blindness, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Abnormal retinal vascular m...	ORPHA:354
Congenital Tufting Enteropathy	Cataract, Corneal erosion, Optic disc coloboma, Secretory diarrhea, Chronic diarrhea, Weight loss...	ORPHA:92050
Night Blindness, Congenital Stationary, Type 1E	Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia	OMIM:614565
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis, Hydroureter	ORPHA:2547
Nance-Horan Syndrome	Retinal detachment, Cataract, Visual loss, Microcornea, Visual impairment	ORPHA:627
Pituitary Apoplexy	Bitemporal hemianopia, Hypoglycemia, Mydriasis, Abnormal static automated perimetry test, Decreas...	ORPHA:95613
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin...	ORPHA:2298
Pyruvate Dehydrogenase E1-Alpha Deficiency	Gastroesophageal reflux, Blindness, Flexion contracture, Small for gestational age	ORPHA:79243
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Myopia, Corneal dystrophy, Nyctalopia, High myopia, Rod-cone dystrophy, Hypothyroidism	OMIM:617763
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Reduced visual acuity, Corne...	OMIM:613270
Pellagra-Like Syndrome	Diplopia, Cataract	OMIM:260650
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Blindness, Failure to thrive	OMIM:236270
X-Linked Acrogigantism	Abnormal optic chiasm morphology, Increased body mass index, Decreased thyroid-stimulating hormon...	ORPHA:300373
Bardet-Biedl Syndrome 20	Papilledema, Constriction of peripheral visual field, Nyctalopia, Obesity, Hypermetropia, Hemeral...	OMIM:619471
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose...	ORPHA:2457
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Reduced visual acuity, Rod-co...	OMIM:615434
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Visual loss, Reduced visual acuity, Uveitis, Failure to thrive, Anter...	ORPHA:85410
Wolfram Syndrome 1	Diabetes mellitus, Cataract, Diabetes insipidus, Optic atrophy, Pigmentary retinopathy, Dysphagia...	OMIM:222300
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Ocular albinism, Reduced visual acu...	ORPHA:79435
Propionic Acidemia	Constipation, Hypoglycemia	ORPHA:35
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Cat-Eye Syndrome	Microphthalmia, Hydronephrosis	ORPHA:195
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Redu...	ORPHA:171673
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Abnormality of the uterus, Vesi...	ORPHA:2470
Axenfeld-Rieger Syndrome, Type 2	Blindness, Inguinal hernia, Microcornea, Opacification of the corneal stroma, Umbilical hernia, A...	OMIM:601499
Abetalipoproteinemia	Abnormality of retinal pigmentation, Blindness, Failure to thrive, Scotoma, Nyctalopia, Chronic d...	ORPHA:14
Rodrigues Blindness	Microcornea, Blindness, Sclerocornea	OMIM:268320
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Photophobia, Ab...	ORPHA:3453
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H...	ORPHA:363400
Cystinosis, Nephropathic	Blindness, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Retinal pi...	OMIM:219800
Mpi-Cdg	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hyperinsulinemic hypoglycemia, Failure to thrive...	ORPHA:79319
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Vesicoureteral r...	ORPHA:85284
Sarcosinemia	Congenital blindness, Optic atrophy	ORPHA:3129
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Myopia, Retinal dystrophy, Chorioretinal...	ORPHA:2526
Aica-Ribosuria Due To Atic Deficiency	Congenital blindness, Optic atrophy, Hypoglycemia	OMIM:608688
Hermansky-Pudlak Syndrome 1	Blindness, Ocular albinism, Photophobia, Hematochezia, Inflammation of the large intestine, Colit...	OMIM:203300
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:164180
Tsh-Secreting Pituitary Adenoma	Bitemporal hemianopia, Abnormal visual field test, Elevated circulating thyroid-stimulating hormo...	ORPHA:91347
Microphthalmia With Brain And Digit Anomalies	Myopia, Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Abnormali...	ORPHA:139471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Corneal opacity, ...	OMIM:236670
Joubert Syndrome 9	Cataract, Retinal dystrophy, Astigmatism, Cerebral visual impairment	OMIM:612285
Full Nf2-Related Schwannomatosis	Blindness, Remnants of the hyaloid vascular system, Amblyopia, Retinal hamartoma, Epiretinal memb...	ORPHA:637
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Increased circulating ACT...	OMIM:614736
Pierpont Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:602342
Hypogonadism-Cataract Syndrome	Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level	OMIM:240950
Trisomy 13	Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Abnormality of the ureter, Opt...	ORPHA:3378
Premature Aging Syndrome, Okamoto Type	Diabetes mellitus, Cataract	OMIM:601811
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Blindness, Cataract, Optic atrophy, High myopia	OMIM:220500
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:151660
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Severe X-Linked Intellectual Disability, Gustavson Type	Small for gestational age, Contractures of the large joints, Blindness, Optic atrophy	ORPHA:3078
Alpers-Huttenlocher Syndrome	Abnormality of vision, Blindness	ORPHA:726
Mucoepithelial Dysplasia, Hereditary	Blindness, Cataract, Chronic diarrhea, Keratoconjunctivitis, Photophobia, Melena, Opacification o...	OMIM:158310
Seckel Syndrome 2	Microphthalmia, Hypospadias, Ectopic kidney	OMIM:606744
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fas...	OMIM:246200
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Progeria-Short Stature-Pigmented Nevi Syndrome	Cataract, Small for gestational age, Multiple joint contractures, Lack of facial subcutaneous fat...	ORPHA:2959
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Atypical scarring of skin, Cataract, Visual impairment	ORPHA:1366
Pituitary Stalk Interruption Syndrome	Septo-optic dysplasia, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroid...	ORPHA:95496
Congenital Generalized Lipodystrophy	Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue loss, Insulin res...	ORPHA:528
Infantile Krabbe Disease	Blindness, Cachexia, Visual loss, Optic atrophy, Photophobia, Vomiting, Gastroesophageal reflux, ...	ORPHA:206436
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Nyctalopia, Flexion contracture, Optic atrophy	ORPHA:99947
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Reduced visual acuity, Phot...	ORPHA:98957
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Blindness, Keratitis, Elbow flexion contracture, Corneal scarring, Knee flexion contracture, Phot...	OMIM:148210
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Keratoconus 9	Keratoconus, Reduced visual acuity, Decreased corneal thickness	OMIM:617928
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Lissencephaly 8	Microphthalmia, Optic atrophy	OMIM:617255
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Myopia, Myopic astigmatism, Moderate hypermetropia, O...	OMIM:614077
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Diarrhea, Fasting hyperinsulinemia, Hypoglycemic seizures, Pigmentary retinopathy, Vomiting, Hype...	ORPHA:71212
Proteus-Like Syndrome	Retinal detachment, Myopia, Cataract, Thymus hyperplasia, Abnormal pupil morphology, Abnormality ...	ORPHA:2969
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Blindness, Cataract, Inguinal hernia, Amblyopia, Visual loss, Hypogonadism, Iris coloboma	ORPHA:2250
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Progeroid Short Stature With Pigmented Nevi	Cataract, Small for gestational age, Diabetes mellitus, Lack of facial subcutaneous fat, Visual l...	OMIM:176690
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Non-24-Hour Sleep-Wake Syndrome	Blindness, Abnormal pineal melatonin secretion	ORPHA:73267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Facial palsy	OMIM:613155
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Microphthalmia, Syndromic 5	Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis	OMIM:610125
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular acidosis, Uterus dide...	OMIM:146255
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Pantothenate Kinase-Associated Neurodegeneration	Blindness, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral visual field loss, Visua...	ORPHA:157850
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Perlman Syndrome	Femoral hernia, Hyperinsulinemia, Inguinal hernia	ORPHA:2849
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy, Hypermetropia	OMIM:612868
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Adrenoleukodystrophy	Blindness, Bowel incontinence, Visual loss, Primary adrenal insufficiency, Hypogonadism	OMIM:300100
Canavan Disease	Blindness, Optic atrophy, Visual impairment	OMIM:271900
Mucopolysaccharidosis Type 3	Myopia, Blindness, Constriction of peripheral visual field, Cataract, Corneal opacity, Inguinal h...	ORPHA:581
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Joubert Syndrome 22	Microphthalmia, Renal hypoplasia	OMIM:615665
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Optic disc pallor	OMIM:300887
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Blindness	OMIM:614514
Lowry-Wood Syndrome	Small for gestational age, Nyctalopia, Elbow flexion contracture, Peripheral visual field loss, P...	OMIM:226960
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia	ORPHA:93267
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi...	OMIM:616959
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Blindness	OMIM:618731
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas...	OMIM:266810
Cinca Syndrome	Blindness, Retrobulbar optic neuritis, Uveitis, Pseudopapilledema, Visual impairment	ORPHA:1451
Infantile Neuroaxonal Dystrophy	Blindness, Flexion contracture, Optic atrophy, Constipation	ORPHA:35069
Night Blindness, Congenital Stationary, Type 1B	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n...	OMIM:257270
Weill-Marchesani Syndrome 2	Iridodonesis, Blindness, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Elbow flexio...	OMIM:608328
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Optic atrophy, Micropht...	OMIM:615663
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae, Reduced visual acuity	OMIM:618031
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Vogt-Koyanagi-Harada Disease	Retinal detachment, Cataract, Visual impairment	ORPHA:3437
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Micropenis, Small scrotum	OMIM:610756
Mccune-Albright Syndrome	Hyperparathyroidism, Blindness, Hyperthyroidism, Elevated circulating growth hormone concentratio...	OMIM:174800
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Albers-Schönberg Osteopetrosis	Blindness, Optic atrophy, Visual impairment	ORPHA:53
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Cataract, Smal...	OMIM:606721
Congenital Disorder Of Glycosylation, Type Ib	Diarrhea, Steatorrhea, Vomiting, Hyperinsulinemic hypoglycemia, Failure to thrive	OMIM:602579
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior...	ORPHA:1435
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Constriction of peripheral visual field, Failure to thrive in infancy, Macular atrophy, Hypoglyce...	OMIM:619418
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Optic atrophy, Unilateral microphthalmos	OMIM:615085
Osteopetrosis, Autosomal Recessive 1	Blindness, Failure to thrive, Optic atrophy, Visual impairment	OMIM:259700
Joubert Syndrome 37	Cryptorchidism, Hydronephrosis, Microphthalmia, Micropenis, Decreased testicular size	OMIM:619185
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Late-Infantile/Juvenile Krabbe Disease	Visual loss, Blindness, Neuromuscular dysphagia, Visual impairment	ORPHA:206443
Momo Syndrome	Blindness, Large for gestational age, Abnormality of the thyroid gland, Obesity, Chorioretinal co...	ORPHA:2563
Meningioma	Bitemporal hemianopia, Decreased circulating cortisol level, Reduced circulating prolactin concen...	ORPHA:2495
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Myopia, Ocular albinism, Reduced visual acuity, Blue irides, Photophobia...	OMIM:203100
Spinocerebellar Ataxia, Autosomal Recessive 3	Blindness	OMIM:271250
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera...	ORPHA:71505
Donnai-Barrow Syndrome	Omphalocele, Retinal detachment, Cataract, Retinal dystrophy, Congenital diaphragmatic hernia, Hi...	OMIM:222448
Webb-Dattani Syndrome	Blindness, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, ...	OMIM:615926
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Hyperthyroidism, Band keratopathy, Primary adrenal insufficiency, Thymoma, Keratoconjun...	OMIM:269200
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Blindness, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopath...	OMIM:259770
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Blue irides, Reduced visual acuity,...	ORPHA:79432
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Joubert Syndrome 6	Blindness, Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Joubert Syndrome 35	Nyctalopia, Rod-cone dystrophy, Progressive visual loss	OMIM:618161
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Momo Syndrome	Blindness, Retinal coloboma, Obesity	OMIM:157980
Hydrolethalus	Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology	ORPHA:2189
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Myopia, Cataract, Abnormal dental enamel morphology, Amblyopia, Ocul...	ORPHA:79430
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Musk, Inability To Smell	Blindness	OMIM:254150
Weill-Marchesani Syndrome 1	Blindness, Cataract, Ectopia lentis, Microspherophakia, High myopia, Shallow anterior chamber	OMIM:277600
Moebius Syndrome	Hypogonadotropic hypogonadism, Facial diplegia, Microphthalmia, Micropenis, Decreased testicular ...	OMIM:157900
Congenital Fibrinogen Deficiency	Microphthalmia, Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size	ORPHA:335
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Diarrhea, Hyperinsulinemia, Vomiting, Blurred vision	ORPHA:230
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s...	OMIM:615962
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Lipodystrophy, Congenital Generalized, Type 4	Lipodystrophy, Insulin resistance, Ileus, Hyperinsulinemia, Flexion contracture, Constipation, Dy...	OMIM:613327
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Microphthalmi...	ORPHA:3301
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:77298
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Optic atrophy, Hypoplastic labia majora, Microphthalmia, Micropenis	OMIM:614225
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Blindness, Failure to thrive, Retinal dystrophy, Chorioretin...	ORPHA:2556
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula, Microphthalmia	ORPHA:2728
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Warburg Micro Syndrome 3	Small scrotum, Hypoplastic labia minora, Optic atrophy, Microphthalmia, Micropenis, Decreased tes...	OMIM:614222
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Hermansky-Pudlak Syndrome 6	Amblyopia, Ocular albinism, Reduced visual acuity, Absent foveal reflex, Photophobia, Macular hyp...	OMIM:614075
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Myopia, Cataract, Scarring alopecia of scalp, Optic atrophy, Reduced visual acuity, Ectopia pupil...	OMIM:618727
Congenital Fibrosis Of Extraocular Muscles	Abnormal visual field test, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Ambl...	ORPHA:45358
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Cryptorchidism, Optic atrophy, Vesicoureteral reflux, Microphthalmia	ORPHA:494344
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, D...	OMIM:131100
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Optic atrophy, Clitoral hypoplasia...	ORPHA:2510
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Inguinal hernia, Abnormality of the endocrine system, Nyctalopia, Visual field defect, Rod-cone d...	ORPHA:166035
Werner Syndrome	Diabetes mellitus, Cataract, Hypogonadism, Retinal degeneration	OMIM:277700
Sheehan Syndrome	Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ...	ORPHA:91355
Cranioectodermal Dysplasia 4	Nyctalopia, Rod-cone dystrophy, Hypermetropia, Visual impairment	OMIM:614378
Stickler Syndrome	Retinal detachment, Blindness, Myopia, Cataract, Abnormal dental enamel morphology, Cachexia, Ect...	ORPHA:828
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Blindness, Hypoglycemia, Optic neuropathy, Vomiting, Failure to thrive	OMIM:252010
Oculodentodigital Dysplasia	Myopia, Cataract, Hypoglycemia, Abnormal dental enamel morphology, Camptodactyly of finger, Optic...	ORPHA:2710
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia ...	ORPHA:83628
Fanconi Anemia, Complementation Group S	Microphthalmia, Ovarian carcinoma, Ovarian neoplasm	OMIM:617883
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Photophobia, Iris transilluminat...	OMIM:619172
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Ring Chromosome 10 Syndrome	Microphthalmia, Aganglionic megacolon	ORPHA:1438
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Impaired gluco...	OMIM:248370
X-Linked Cerebral Adrenoleukodystrophy	Blindness, Decreased circulating cortisol level, Primary adrenal insufficiency, Reduced visual ac...	ORPHA:139396
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Blindness, Retinal dystrophy	ORPHA:713
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Microphthalmia, Hydronephrosis	OMIM:618494
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Ketonuria, Renal hypoplasia	OMIM:619053
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ...	OMIM:614105
Dermatoosteolysis, Kirghizian Type	Keratitis, Nyctalopia	ORPHA:1657
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:214150
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of...	ORPHA:3109
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst	OMIM:611561
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism	ORPHA:228390
Prader-Willi Syndrome	Myopia, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to growth...	OMIM:176270
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Microphthalmia	OMIM:618652
Amoebiasis Due To Free-Living Amoebae	Blindness, Visual loss, Diplopia, Photophobia, Abnormality of the adrenal glands, Vomiting, Corne...	ORPHA:68
Kapur-Toriello Syndrome	Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis	ORPHA:2328
Papillorenal Syndrome	Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr...	OMIM:120330
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Retinal detachment, Blindness, Myopia, Gastrointestinal hemorrhage, Inguinal hernia,...	OMIM:225400
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci...	ORPHA:769
Asparagine Synthetase Deficiency	Blindness, Optic nerve hypoplasia, Cerebral visual impairment, Gastroesophageal reflux, Failure t...	OMIM:615574
Adams-Oliver Syndrome 2	Microphthalmia, Optic atrophy	OMIM:614219
Knobloch Syndrome	Retinal detachment, Myopia, Cataract, Ectopia lentis, Visual loss, Abnormal vitreous humor morpho...	ORPHA:1571
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent...	OMIM:620185
Aniridia-Absent Patella Syndrome	Aniridia, Inguinal hernia, Cataract	ORPHA:1069
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Optic atrophy	OMIM:612379
Hereditary Fructose Intolerance	Cataract, Reactive hypoglycemia, Diarrhea, Constipation, Vomiting, Nausea	ORPHA:469
Behçet Disease	Gastrointestinal hemorrhage, Blindness, Cataract, Retrobulbar optic neuritis, Weight loss, Photop...	ORPHA:117
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of...	OMIM:264800
Sandhoff Disease	Cherry red spot of the macula, Blindness, Chronic diarrhea	OMIM:268800
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia	ORPHA:2505
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Corneal dystrophy, Nyctalopia, Photophobia, Hemeralopia	ORPHA:3194
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia	OMIM:609053
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Blindness, Melena	ORPHA:853
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma	OMIM:169550
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Baraitser-Winter Syndrome 1	Microphthalmia, Micropenis, Cryptorchidism	OMIM:243310
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Iris transillumination defect, Ocular albinism, Reduced visual acuity	OMIM:614074
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Blindness, Optic atrophy	ORPHA:95433
Cogan Syndrome	Blindness, Keratitis, Reduced visual acuity, Uveitis, Photophobia, Conjunctivitis	ORPHA:1467
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Leiomyomatosis, Diffuse, With Alport Syndrome	Cataract, Dysphagia, Vomiting, Constipation, Anterior lenticonus, Failure to thrive, Lenticonus	OMIM:308940
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Fle...	OMIM:609069
Lethal Ataxia With Deafness And Optic Atrophy	Blindness, Optic atrophy, Visual impairment	ORPHA:1187
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Corneal opac...	ORPHA:580
Tay-Sachs Disease	Cherry red spot of the macula, Blindness	OMIM:272800
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC...	ORPHA:90790
Osteopetrosis, Autosomal Recessive 2	Blindness, Optic atrophy	OMIM:259710
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Corneal opacity, Camptodactyly...	ORPHA:217085
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Myopia, Blindness, Flexion contracture, Optic atrophy, Constipation, Gastroesophageal reflux	ORPHA:847
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Micropenis	OMIM:602361
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Myopia, Corneal opacity, Amblyopia, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage,...	OMIM:175780
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Blindness, Knee flexion contracture	OMIM:603387
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Corneal opacity, Camptodactyly...	ORPHA:217093
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Renal hypoplasia	OMIM:618914
Tay-Sachs Disease	Blindness, Precocious puberty, Optic atrophy, Dysphagia, Cherry red spot of the macula, Visual im...	ORPHA:845
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Cryptorchidism, Optic atrophy, Microphthalmia	ORPHA:899
Cerebrooculonasal Syndrome	Blindness	ORPHA:66625
1Q41Q42 Microdeletion Syndrome	Hypergonadotropic hypogonadism, Abnormality iris morphology, Congenital diaphragmatic hernia	ORPHA:250999
Mosaic Trisomy 9	Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Multiple renal cysts, Abnormality of the u...	ORPHA:99776
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin ...	ORPHA:79474
Marden-Walker Syndrome	Hypospadias, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis	OMIM:248700
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Generalized lipodystro...	ORPHA:79086
Cryptococcosis	Blindness, Abnormal retinal morphology, Peritonitis, Vitritis, Abnormality of vision, Abnormal op...	ORPHA:1546
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Microphthalmia, Hypogonadism, Optic atrophy	OMIM:610651
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma	ORPHA:1553
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia	OMIM:617466
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Oligosacchariduria	ORPHA:163649
Dpagt1-Cdg	Failure to thrive, Lipodystrophy, Nyctalopia, Flexion contracture, Optic atrophy, Developmental c...	ORPHA:86309
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Cryptorchidism, Optic disc coloboma, Microphthalmia, Hydronephrosis	ORPHA:568
Aica-Ribosiduria	Congenital blindness	ORPHA:250977
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Cryptorchidism, Bicornuate uter...	ORPHA:2059
Familial Dysautonomia	Myopia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Gastroesophag...	ORPHA:1764
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Hydronephrosis, Clitoral hypertrophy	OMIM:616449
Saul-Wilson Syndrome	Nyctalopia, Cataract	OMIM:618150
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,...	OMIM:250410
Igg4-Related Dacryoadenitis And Sialadenitis	Blindness, Xerostomia, Thyroiditis, Weight loss, Keratoconjunctivitis sicca, Abnormal optic nerve...	ORPHA:79078
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst	OMIM:603194
Kapur-Toriello Syndrome	Hypoplastic labia majora, Microphthalmia, Micropenis, Cryptorchidism	OMIM:244300
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Blindness, Retinal telangiectasia, Optic atrophy, Exudative retinopathy, Intestinal bleeding	OMIM:612199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis	OMIM:613001
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Visual Impairment And Progressive Phthisis Bulbi	Flat cornea, Reduced visual acuity, Hypermetropia	OMIM:618283
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter...	ORPHA:90793
Joubert Syndrome 14	Microphthalmia, Optic atrophy, Renal cyst	OMIM:614424
Monosomy 18P	Microphthalmia	ORPHA:1598
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Reduced visual acu...	ORPHA:790
Fanconi Anemia, Complementation Group R	Microphthalmia, Pelvic kidney	OMIM:617244
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Vaginal atresia...	ORPHA:2237
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Temtamy Syndrome	Microphthalmia	OMIM:218340
Meckel Syndrome 14	Ambiguous genitalia, Microphthalmia, Aplasia of the uterus, Polycystic kidney dysplasia	OMIM:619879
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Pseudotrisomy 13 Syndrome	Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Microphthalmia, Micropenis	OMIM:264480
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:241410
Joubert Syndrome 2	Renal insufficiency, Optic disc coloboma, Renal cyst, Nephronophthisis, Hypoplastic male external...	OMIM:608091
Leprechaunism	Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism...	ORPHA:508
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Cryptorchidism	ORPHA:404440
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary...	ORPHA:168558
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Microphthalmia	OMIM:616395
Microphthalmia, Syndromic 9	Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Hypop...	OMIM:601186
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi...	OMIM:608594
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Blindness, Abnormal odontoid tissue morphology	ORPHA:79255
Oeis Complex	Hydroureter, Bifid uterus, Epispadias, Vesicovaginal fistula, Ambiguous genitalia, female, Crypto...	OMIM:258040
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary...	ORPHA:289548
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Hypogonadotropic hypogona...	OMIM:206900
Hyper-Igd Syndrome	Optic disc pallor, Nyctalopia, Chronic diarrhea, Diarrhea, Vomiting, Rod-cone dystrophy	OMIM:260920
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst	OMIM:611134
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Plasminogen Deficiency, Type I	Blindness, Conjunctivitis	OMIM:217090
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h...	OMIM:309801
Hydranencephaly	Blindness, Optic nerve hypoplasia, Chorioretinal atrophy, Abnormality of vision, Atrophic pituita...	ORPHA:2177
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias	OMIM:615877
Fanconi Anemia, Complementation Group F	Cryptorchidism, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney	OMIM:603467
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Blindness, Symblepharon, Oral-pharyngeal dysphagia, Keratitis, Visual loss, Cor...	ORPHA:95455
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Renal hypoplasia, Horseshoe kidney, V...	OMIM:607323
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, Microphthalmia	OMIM:110100
Mucopolysaccharidosis, Type Iiid	Inguinal hernia, Diarrhea, Nyctalopia, Achilles tendon contracture, Elbow flexion contracture, Dy...	OMIM:252940
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Amblyopia, Hypothyroidism, Lens coloboma, Retinal...	ORPHA:42775
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Optic atrophy	OMIM:234050
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Cryptorchidism, Bilateral microphthalmos	ORPHA:369891
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Microphthalmia	OMIM:619148
Martsolf Syndrome 1	Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism	OMIM:212720
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, True hermaphroditism, Cryptorch...	ORPHA:564
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Jacobsen Syndrome	Hypospadias, Cryptorchidism, Optic atrophy, Clitoral hypoplasia, Macular hypoplasia, Labial hypop...	OMIM:147791
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea...	OMIM:269700
Fanconi Anemia, Complementation Group E	Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horseshoe kidney, Microphthalmia	OMIM:600901
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Aganglionic megacolon, Optic disc coloboma, Horseshoe kidney, Bladder dive...	ORPHA:959
Leprosy	Blindness, Uveitis, Abnormality of the adrenal glands, Iritis, Corneal perforation, Corneal ulcer...	ORPHA:548
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Microphthalmia, Syndromic 6	Myopia, Blindness, Retinal dystrophy, Female hypogonadism, Sclerocornea, Adrenal hypoplasia, Micr...	OMIM:607932
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism	OMIM:619135
Pallister-Hall Syndrome	Decreased testicular size, Hydroureter, Distal urethral duplication, Ectopic kidney, Precocious p...	OMIM:146510
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Cataract 49	Posterior cortical cataract, Reduced visual acuity	OMIM:619593
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism	OMIM:612530
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Dysosteosclerosis	Blindness, Optic atrophy	OMIM:224300
Vacterl With Hydrocephalus	Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology	ORPHA:3412
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Optic atrophy, Hypoplasia of the i...	OMIM:251300
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Microphthalmia, Micropenis	OMIM:614083
Fanconi Anemia, Complementation Group A	Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horseshoe kidney, Microphthalmia	OMIM:227650
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Neonatal Marfan Syndrome	Iridodonesis, Small for gestational age, Lipoatrophy, Ectopia lentis, Flexion contracture, High m...	ORPHA:284979
Hepatoerythropoietic Porphyria	Blindness, Scarring, Scarring alopecia of scalp, Keratoconjunctivitis, Corneal ulceration	ORPHA:95159
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Blindness, Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma	OMIM:615287
Gm2-Gangliosidosis, Ab Variant	Blindness	OMIM:272750
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis, Cryptorchidism	ORPHA:284160
Sarcoidosis	Blindness, Cataract, Hyperthyroidism, Scarring, Diabetes insipidus, Uveitis, Weight loss, Keratoc...	ORPHA:797
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile hypospadias	ORPHA:1692
Menke-Hennekam Syndrome 1	Blindness, Cataract, Inguinal hernia, Flexion contracture, Hypermetropia, Chronic constipation, G...	OMIM:618332
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
3Q29 Microdeletion Syndrome	Microphthalmia, Hypospadias, Horseshoe kidney	ORPHA:65286
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Diarrhea, Enamel hypomineralization, Vomiting, Glycosuria, Failure to...	ORPHA:47159
Ohdo Syndrome, X-Linked	Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis	OMIM:300895
Phace Association	Microphthalmia, Optic atrophy, Optic nerve hypoplasia, Horner syndrome	OMIM:606519
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Hydronephrosis	ORPHA:35173
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:614230
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Urethral atresia, Microphthalmia, Va...	OMIM:273395
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Ambiguous genitalia, Microphthalmia	OMIM:617666
Arima Syndrome	Blindness, Optic atrophy, Retinal dystrophy, Chorioretinal coloboma	OMIM:243910
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Stromme Syndrome	Hydronephrosis, Microphthalmia, Bilateral renal hypoplasia, Optic nerve hypoplasia	OMIM:243605
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Urete...	OMIM:614527
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo...	OMIM:617729
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cryp...	ORPHA:2052
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Neurooculorenal Syndrome	Iris atrophy, Decreased circulating cortisol level, Ectopic posterior pituitary, Decreased circul...	OMIM:620305
Fanconi Anemia, Complementation Group C	Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horseshoe kidney, Microphthalmia	OMIM:227645
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Nyctalopia, Flexion contracture, Optic atrophy, Abdomi...	OMIM:619321
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplastic labia majora, Microphthal...	OMIM:603457
Cousin Syndrome	Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydronephrosis	OMIM:260660
Cohen Syndrome	Microphthalmia, Optic atrophy, Cryptorchidism	ORPHA:193
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Unilateral microphthalmos	OMIM:618874
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Absent external genitalia, Hypoplastic labia majora, Bi...	OMIM:263650
Histiocytoid Cardiomyopathy	Optic atrophy, Renal cyst, Polycystic ovaries, Microphthalmia, Congenital aphakia	ORPHA:137675
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Hypospadias, Aganglionic megacolon, Cryptorchidism, Renal cy...	OMIM:229850
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Male urethral meatus stenosis, Hydronephrosis, Hypospadias	ORPHA:464738
Charge Syndrome	Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Facial palsy, Cryptorchidism, Optic a...	ORPHA:138
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Congenital Erythropoietic Porphyria	Blindness, Scarring, Increased connective tissue, Scarring alopecia of scalp, Keratoconjunctiviti...	ORPHA:79277
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia, Microphthalmia	OMIM:616300
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Anophthalmia, Horseshoe kidney, Perineal fistula, Rectovaginal fist...	ORPHA:2538
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Microphthalmia, Hydronephrosis, Cryptorchidism	ORPHA:250989
Fanconi Anemia	Renal insufficiency, Hydroureter, Hypospadias, Aganglionic megacolon, Abnormal preputium morpholo...	ORPHA:84
Renpenning Syndrome 1	Blindness, Cataract, Hypermetropia, Camptodactyly, Joint contracture of the hand	OMIM:309500
Trisomy 18	Microphthalmia, Abnormal morphology of female internal genitalia, Hydronephrosis, Cryptorchidism	ORPHA:3380
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron...	OMIM:271520
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos, Hydronephrosis	ORPHA:2839
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Microphthalmia	OMIM:613451
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Hydronephrosis	OMIM:302960
Senior-Loken Syndrome 3	Visual loss, Congenital blindness	OMIM:606995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Optic atrophy	OMIM:253800
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horseshoe kidney, Microphthalmia,...	OMIM:227646
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Joubert Syndrome 5	Congenital blindness, Rod-cone dystrophy, Retinal coloboma, Reduced visual acuity	OMIM:610188
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Micropenis, Uterus didelphys, Septate vagina	OMIM:617925
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia	ORPHA:2166
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Optic nerve hypoplasia, Facial palsy, Renal hypoplasia, Horseshoe kidney, Abnormal o...	ORPHA:508498
Exstrophy-Epispadias Complex	Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Penoscrotal t...	ORPHA:322
Teebi-Shaltout Syndrome	Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
2Q31.1 Microdeletion Syndrome	Microphthalmia, Optic disc coloboma, Cryptorchidism	ORPHA:251014
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen...	ORPHA:284339
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Horseshoe kidney, Hypoplasia of the iris, Microphthalmia, Hydroneph...	ORPHA:2092
17Q11 Microdeletion Syndrome	Blindness, Retinal vascular proliferation, Precocious puberty, Glomus jugular tumor, Elevated cir...	ORPHA:97685
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia, Unilateral renal agenesis	ORPHA:457284
Cockayne Syndrome Type 3	Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesi...	ORPHA:90324
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Proteinuria, Cryptorchidism, Optic atrophy, Microphthalmia	ORPHA:2162
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external genita...	ORPHA:90794
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Cat Eye Syndrome	Vesicoureteral reflux, Microphthalmia, Hydronephrosis, Horseshoe kidney	OMIM:115470
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Abnormal auditory evoked potentials, Decreased nerve conduction...	OMIM:133540
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Turner Syndrome Due To Structural X Chromosome Anomalies	Myopia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gona...	ORPHA:99413
Mosaic Monosomy X	Myopia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gona...	ORPHA:99228
Monosomy X	Myopia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gona...	ORPHA:99226
Turner Syndrome	Myopia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gona...	ORPHA:881
Hallermann-Streiff Syndrome	Microphthalmia, Optic disc coloboma, Cryptorchidism	OMIM:234100
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Optic atrophy, Renal cyst, Vesicoureteral reflux, Microphthalmia	OMIM:616975
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Mosaic Variegated Aneuploidy Syndrome	Ambiguous genitalia, Microphthalmia, Multicystic kidney dysplasia, Vaginal neoplasm	ORPHA:1052
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis	OMIM:610829
Meckel Syndrome, Type 1	External genital hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Abnormality of the uret...	OMIM:249000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, External genital hypoplasia, Opt...	ORPHA:141099
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Horseshoe kidney	ORPHA:3320
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Hypospadias, Cryptorchidism	OMIM:223370
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Frontorhiny	Microphthalmia	ORPHA:391474
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Rectovaginal fistula, Microphthalmia	ORPHA:861
Aicardi Syndrome	Precocious puberty, Microphthalmia, Optic disc coloboma, Optic atrophy	ORPHA:50
Basal Cell Nevus Syndrome 1	Microphthalmia, Ovarian fibroma, Ovarian carcinoma	OMIM:109400
Fraser Syndrome 1	Blindness, Abnormal thymus morphology, Corneal opacity	OMIM:219000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, Microphthalmia...	OMIM:609945
Microphthalmia With Limb Anomalies	Cryptorchidism, Optic atrophy, Horseshoe kidney, Microphthalmia, True anophthalmia	ORPHA:1106
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Rectoperine...	ORPHA:857
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Optic atrophy	OMIM:201180
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Optic atrophy	OMIM:308300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism...	ORPHA:468631
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Roberts Syndrome	Cryptorchidism, Long penis, Polycystic kidney dysplasia, Microphthalmia, Clitoral hypertrophy	ORPHA:3103
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ectopic kidney	ORPHA:268249
Oculocerebrorenal Syndrome Of Lowe	Renal insufficiency, Proteinuria, Cryptorchidism, Proximal renal tubular acidosis, Nephrolithiasi...	ORPHA:534
Cockayne Syndrome	Optic disc pallor, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Un...	ORPHA:191
22Q11.2 Deletion Syndrome	Hypospadias, Aganglionic megacolon, Cryptorchidism, Optic atrophy, Renal hypoplasia, Multiple ren...	ORPHA:567
Monosomy 9P	Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Ureteropelvic junction obstruction	ORPHA:261112
Monosomy 9Q22.3	Microphthalmia, Ovarian fibroma	ORPHA:77301
Pmm2-Cdg	Myopia, Failure to thrive, Cataract, Multiple joint contractures, Lipodystrophy, Hypogonadotropic...	ORPHA:79318
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Papilledema	OMIM:127000
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Aicardi Syndrome	Precocious puberty, Microphthalmia, Optic disc coloboma, Optic atrophy	OMIM:304050
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Inguinal hernia, Abnormality of connective tissue, Abnormality iris morphology	ORPHA:91387
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Cryptorchidism, Ureterocele, Microphthalmia	OMIM:616734
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Hypogonadism, Cryptorchidism	OMIM:268400
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Cryptorchidism, Optic atrophy, Horseshoe kidney, Clitoral hyp...	OMIM:305600
Mend Syndrome	Microphthalmia, Abnormal auditory evoked potentials, Cryptorchidism	ORPHA:401973
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Hydrolethalus Syndrome 1	Hypospadias, Bifid uterus, Microphthalmia, Abnormal vagina morphology, Hydronephrosis	OMIM:236680
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Renal hypoplasia, Cryptorchidism	OMIM:620005
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Incontinentia Pigmenti	Microphthalmia	ORPHA:464
Yunis-Varon Syndrome	Hypospadias, Cryptorchidism, Bilateral microphthalmos, Renovascular hypertension, Hypoplastic lab...	ORPHA:3472
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Microphthalmia, Syndromic 2	Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Microphthalmia	OMIM:300166
Trichothiodystrophy	Cryptorchidism, Gonadal dysgenesis, Bilateral microphthalmos	ORPHA:33364
Oculodentodigital Dysplasia	Microphthalmia, Neurogenic bladder	OMIM:164200
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism	ORPHA:2108
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Degcags Syndrome	Hypospadias, Abnormal renal medulla morphology, Cryptorchidism, Chronic kidney disease, Bilateral...	OMIM:619488
Pallister-Hall Syndrome	Small scrotum, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Precocious puberty, Crypto...	ORPHA:672
Microphthalmia, Syndromic 1	Blindness, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Campt...	OMIM:309800
Cardiac-Urogenital Syndrome	Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Patent urachus...	OMIM:618280
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Charge Syndrome	Anophthalmia, Hypogonadotropic hypogonadism, Facial palsy, External genital hypoplasia, Cryptorch...	OMIM:214800
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Hydrocele testis, Microphthalmia, Optic disc coloboma, Facial palsy	OMIM:620186
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac...	OMIM:309000
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:613884
Fontaine Progeroid Syndrome	Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis	OMIM:612289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Optic atrophy	OMIM:253280
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Bilateral microphthalmos, Decreased testicular size	ORPHA:93325
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Thrombocytopenia-Absent Radius Syndrome	Vesicoureteral reflux, Ureteral duplication, Aplasia of the uterus, Horseshoe kidney	OMIM:274000
Okamoto Syndrome	Urinary incontinence, Abnormally large globe, Bifid uterus, Unilateral renal hypoplasia, Ureterop...	ORPHA:2729
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen	OMIM:100300
Myhre Syndrome	Microphthalmia, Cryptorchidism	OMIM:139210
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos	OMIM:610828
Neu-Laxova Syndrome 1	Cryptorchidism, Microphthalmia, Bifid uterus	OMIM:256520
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Horseshoe kidney, Bicornuate uter...	OMIM:268300
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Holoprosencephaly 1	Microphthalmia, Micropenis	OMIM:236100
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Townes-Brocks Syndrome 1	Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re...	OMIM:107480
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Aplasia of the uterus...	OMIM:135900
Witteveen-Kolk Syndrome	Hypospadias, Unilateral cryptorchidism, Phimosis, Male urethral meatus stenosis, Microphallus, Mi...	OMIM:613406
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Aga...	ORPHA:261537
Wolf-Hirschhorn Syndrome	Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus	OMIM:194190
Mowat-Wilson Syndrome	Bifid scrotum, Aganglionic megacolon, Hypospadias, Cryptorchidism, Microphthalmia	OMIM:235730
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Facial palsy, Cryptorchidism, Renal cyst, Microphthalmia	OMIM:113620
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Aga...	ORPHA:261552
Mowat-Wilson Syndrome	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Aga...	ORPHA:2152
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microphthalmos, Bilateral renal hypo...	ORPHA:508488
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse	OMIM:130050
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma	OMIM:619539
Treacher Collins Syndrome 1	Cryptorchidism, Bilateral microphthalmos	OMIM:154500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus	OMIM:276820
Vascular Ehlers-Danlos Syndrome	Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Uterine ...	ORPHA:286
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Ectopic kidney, Vesicoureteral reflux, Microphthalmia...	OMIM:164210
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Cryptorchidism, Renal cyst, Hypoplastic labia majora, Aplasia of the ...	OMIM:601803

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 Abhd11

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 Abhd11.

No publications found that use IMPC mice or data for Abhd11.

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MGI Allele	Allele Type	Produced
Abhd11^em1(IMPC)Mbp	Inter-exon deletion	Mice, Tissue

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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Gene: Abhd11 MGI:1916008

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Abhd11 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data