Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tyrosinase
Synonyms:
skc35,  Oca1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tyr mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation o... OMIM:126070
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Cafe-Au-Lait Spots, Multiple
Multiple cafe-au-lait spots OMIM:114030
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Neurofibromatosis Type 6
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Book Syndrome
Premature graying of hair OMIM:112300
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Tietz Albinism-Deafness Syndrome
Blue irides, Generalized hypopigmentation, White eyebrow, White eyelashes, Hypopigmentation of th... OMIM:103500
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigme... ORPHA:241
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypoplasi... OMIM:619165
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Hypopigmentation of the skin, Sparse body hair, Onychogryposis of toenails, Dystrophic ... OMIM:617294
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus OMIM:300500
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Birdshot Chorioretinopathy
Retinal thinning, Attenuation of retinal blood vessels, Optic disc pallor, Cataract, Macular scar... ORPHA:179
Oculocutaneous Albinism Type 2
Photophobia, Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentat... ORPHA:79432
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Astigmatism, Iris hypopig... ORPHA:999
Adult-Onset Foveomacular Vitelliform Dystrophy
Visual field defect, Choroideremia, Color vision defect, Vitelliform-like macular lesions, Retina... ORPHA:99000
Oculocutaneous Albinism
Photophobia, Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Reduced... ORPHA:55
X-Linked Recessive Ocular Albinism
Ocular albinism, Abnormal pupil morphology, Abnormal macular morphology, Hypoplasia of the fovea,... ORPHA:54
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Cataract, Rod-cone dystrophy OMIM:300719
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea,... ORPHA:79431
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Albinism, Oculocutaneous, Type Ia
Photophobia, Ocular albinism, Blue irides, Reduced visual acuity, Hypopigmentation of hair, Hypop... OMIM:203100
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus OMIM:614171
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Reduced visual acuity, Ret... OMIM:608051
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Waardenburg Syndrome, Type 2A
Hypoplastic iris stroma, Numerous pigmented freckles, Partial albinism, Albinism, White eyebrow, ... OMIM:193510
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Neovascular Glaucoma
Photophobia, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Abnormal ... ORPHA:94058
Oculocutaneous Albinism Type 5
Ocular albinism, Hypoplasia of the fovea, Abnormal fundus morphology ORPHA:370091
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... OMIM:145250
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Iris coloboma, Whit... OMIM:601706
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Hermansky-Pudlak Syndrome 11
Ocular albinism, Fair hair, Hypoplasia of the fovea, Albinism, Iris transillumination defect, Mel... OMIM:619172
Griscelli Syndrome Type 1
Retinopathy, Partial albinism, Iris hypopigmentation, Premature graying of hair, White hair ORPHA:79476
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Urocanase Deficiency
Fair hair, Blue irides OMIM:276880
Bothnia Retinal Dystrophy
Visual field defect, Increased OCT-measured foveal thickness, Retinal degeneration, Macular degen... ORPHA:85128
Hermansky-Pudlak Syndrome 7
Albinism, Ocular albinism OMIM:614076
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea, Fre... OMIM:203200
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Woolly Hair
Abnormality of hair texture, Abnormal pupil morphology, Woolly hair, Brittle hair, Sparse body ha... ORPHA:170
Late-Onset Retinal Degeneration
Macular degeneration, Patchy atrophy of the retinal pigment epithelium, Abnormal best corrected v... ORPHA:67042
Irvan Syndrome
Photophobia, Ocular hypertension, Reduced visual acuity, Macular edema, Retinal detachment, Blurr... ORPHA:209943
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Color vision defect, Cone/cone-rod dystrophy, Macular atrophy, Visual imp... OMIM:603649
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Waardenburg Syndrome, Type 2E
Ocular albinism, Blue irides, Iris hypopigmentation, White eyebrow, White eyelashes, Hypoplasia o... OMIM:611584
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Hypoplasia of the fovea, Depigmented fundus, Optic ner... ORPHA:352731
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Slow decrease in visual acuity, Nyctalopia, Full-thickn... ORPHA:75377
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Loose Anagen Syndrome
Iris coloboma, Abnormal hair morphology, Abnormal hair whorl ORPHA:168
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Progressive visual loss, Macular scar, Drusen OMIM:615439
Hermansky-Pudlak Syndrome 4
Albinism, Ocular albinism, Hypoplasia of the fovea OMIM:614073
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Reduced visual acuity, Peripheral retinal atrophy, Central s... OMIM:136550
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, ... ORPHA:41751
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular atrophy, Macular dystrophy, Visual impairment OMIM:600110
Attenuated Chédiak-Higashi Syndrome
Ocular albinism, Generalized hypopigmentation ORPHA:352723
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Macrophthalmia, Colobomatous, With Microcornea
Ocular hypertension, Reduced visual acuity, Microcornea, Macular atrophy, Myopia OMIM:602499
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Adult-onset night blindn... OMIM:605670
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis, Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Hermansky-Pudlak Syndrome 6
Photophobia, Absent foveal reflex, Ocular albinism, Hypopigmentation of the skin, Reduced visual ... OMIM:614075
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Macular Dystrophy, Retinal, 3
Color vision defect, Reduced visual acuity, Retinal pigment epithelial atrophy, Central scotoma, ... OMIM:608850
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Visual field defect, Choroideremia, Color vision defect, Metamorpho... ORPHA:1243
Macular Dystrophy, Patterned, 3
Reduced visual acuity, Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Reduced visual acuity, Subretinal fluid, Macular dystrophy, Visual ... OMIM:153700
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mixed hypo- and hyperpigmentation of the skin, Nail dysplasia, Hypermelanotic macule, Alopecia, M... ORPHA:79397
Retinitis Pigmentosa 48
Rod-cone dystrophy, Visual impairment, Macular degeneration OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Microphthalmia, Isolated 5
Photophobia, Hypermetropia, Foveoschisis, Abnormal foveal morphology, Rod-cone dystrophy, Cystoid... OMIM:611040
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Pyknoachondrogenesis
Stillbirth OMIM:265880
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Hermansky-Pudlak Syndrome 8
Hypermetropia, Ocular albinism, Reduced visual acuity, Hypoplasia of the fovea, Astigmatism, Opti... OMIM:614077
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Retinitis Pigmentosa 32
Photophobia, Photoreceptor layer loss on macular OCT, Retinal degeneration, Nyctalopia, Reduced v... OMIM:609913
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177910
Retinoschisis 1, X-Linked, Juvenile
Hypermetropia, Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epi... OMIM:312700
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Mottled pigmentation of the trunk and proximal extremities, Hypoplastic fifth toe... OMIM:131960
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Generalized hyperpigmentation, Cataract ORPHA:2253
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dy... OMIM:180210
Achromatopsia
Photophobia, Hypermetropia, Color vision test abnormality, Absent foveal reflex, Retinal pigment ... ORPHA:49382
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Retinal Cone Dystrophy 1
Photophobia, Retinal degeneration, Color vision defect, Cone/cone-rod dystrophy, Progressive visu... OMIM:180020
Microphthalmia, Isolated 6
High hypermetropia, Microcornea, Retinal fold, Ocular hypertension OMIM:613517
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Anonychia, Axillary and groin hyperpigmentation and hypopigmentation, Abno... ORPHA:69125
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Comedonal acne, Reduced visual acuity, Peripheral retinal atrophy, Microcor... OMIM:615147
Hermansky-Pudlak Syndrome 5
Albinism, Ocular albinism, Hypoplasia of the fovea, Iris transillumination defect OMIM:614074
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Wagner Vitreoretinopathy
Visual field defect, Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chori... OMIM:143200
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration, Visual impairment OMIM:618513
Albinism, Oculocutaneous, Type Vi
Abnormal hair morphology, Generalized hypopigmentation OMIM:113750
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Macular Degeneration, Early-Onset
Reduced visual acuity, Choroidal neovascularization, Macular degeneration OMIM:616118
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Oliver-Mcfarlane Syndrome
Sparse hair, Retinal degeneration, Alopecia, Pigmentary retinopathy, Long eyelashes, Long eyebrow... OMIM:275400
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Macular degeneration, C... OMIM:600138
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation, Cataract, White hair ORPHA:2720
Cone-Rod Dystrophy, X-Linked, 1
Photophobia, Nyctalopia, Retinal pigment epithelial mottling, Color vision defect, Reduced visual... OMIM:304020
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Abnormal fingernail morphology, Hyperpigmentation of the skin, Ridg... ORPHA:89838
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... OMIM:618889
Peripheral Cone Dystrophy
Peripheral retinal degeneration, Pericentral scotoma, Cone/cone-rod dystrophy, Optic atrophy, Opt... OMIM:609021
Uveal Melanoma
Inferior lens subluxation, Vitreous hemorrhage, Iris melanoma, Zonular cataract, Ciliary body mel... ORPHA:39044
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinitis Pigmentosa 33
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial ... OMIM:610359
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Generalized hyperpigmentat... ORPHA:33445
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal retinal morphology, Albinism, Vi... ORPHA:2786
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Photophobia, Absent foveal reflex, Hypoautofluorescent ... OMIM:619531
Retinitis Pigmentosa 37
Cystoid macular degeneration, Photophobia, Nyctalopia, Rod-cone dystrophy, Tritanomaly, Red-green... OMIM:611131
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Glaucoma 1, Open Angle, F
Ocular hypertension, Glaucomatous visual field defect, Increased cup-to-disc ratio OMIM:603383
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Irregular hyperpigmentation ORPHA:1336
Usher Syndrome, Type Iv
Ring scotoma, Retinal degeneration, Nyctalopia, Constriction of peripheral visual field, Retinal ... OMIM:618144
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Leber Congenital Amaurosis With Early-Onset Deafness
Reduced visual acuity, High hypermetropia, Retinal degeneration OMIM:617879
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Retinitis Pigmentosa 31
Visual field defect, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment ep... OMIM:609923
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Retinal degeneration OMIM:601780
Familial Drusen
Perifoveal ring of hyperautofluorescence, Photophobia, Granular macular appearance, Abnormality o... ORPHA:75376
Cone-Rod Dystrophy 16
Photophobia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood ... OMIM:614500
Macular Degeneration, X-Linked Atrophic
Reduced visual acuity, Macular degeneration OMIM:300834
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Mixed hypo- and hyperpigmentation of the skin, Spotty hyperpigmentation, Hypermelanotic macule, N... ORPHA:79399
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair, Developmental cataract OMIM:618808
Retinitis Pigmentosa 35
Abnormality of skin pigmentation, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:610282
Hypertrichosis Lanuginosa Congenita
Thick eyebrow, Generalized hirsutism, Abnormality of skin pigmentation ORPHA:2222
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Nyctalopia,... ORPHA:827
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Hermansky-Pudlak Syndrome
Photophobia, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Amblyopia, ... ORPHA:79430
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Chediak-Higashi Syndrome
Photophobia, Recurrent bacterial skin infections, Ocular albinism, Decreased nerve conduction vel... OMIM:214500
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Constriction of peripheral visual field, Rod-cone dy... OMIM:600059
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Microcornea, Iris hypopigmentation, Iris coloboma, Freckling, Hyperpigm... ORPHA:3214
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy OMIM:268010
Retinitis Pigmentosa 90
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... OMIM:619007
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Retinitis Pigmentosa 19
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:601718
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:411515
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail, Hyperpigmentation of the skin OMIM:302000
Macular Dystrophy, Vitelliform, 3
Photophobia, Reduced visual acuity, Vitelliform-like macular lesions, Choroidal neovascularizatio... OMIM:608161
Cone-Rod Dystrophy 13
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Cone/cone-rod dyst... OMIM:608194
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Juvenile Glaucoma
Optic neuropathy, Glaucomatous visual field defect, Increased cup-to-disc ratio, Abnormal anterio... ORPHA:98977
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Idiopathic Panuveitis
Photophobia, Blindness, Cystoid macular edema, Ocular hypertension, Reduced visual acuity, Blurre... ORPHA:280921
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptor... OMIM:244200
Morm Syndrome
Retinal dystrophy, Cataract, Retinal atrophy, Progressive night blindness, Visual impairment ORPHA:75858
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Reduced visual acuity, Optic atro... OMIM:204200
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Unilateral renal agenesis, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the u... OMIM:158330
Cone-Rod Dystrophy 11
Photophobia, Slow decrease in visual acuity, Macular degeneration, Cone/cone-rod dystrophy, Macul... OMIM:610381
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Constriction of peripheral visual field, Chorioretinal atrophy, High myopia... OMIM:210370
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Albinism, Depigmented fundus OMIM:300650
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the uterus, Horsesh... OMIM:617805
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Weill-Marchesani Syndrome 4
Ocular hypertension, Iridodonesis, Phakodonesis, Ectopia lentis, Myopia OMIM:613195
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Macular degeneration, Brittle hair, Abnormality of macular pigment... ORPHA:1573
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Leber Congenital Amaurosis 15
Hypermetropia, Retinal degeneration, Rod-cone dystrophy, Nyctalopia, Color vision defect, Retinop... OMIM:613843
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Hypermetropia, Shallow anterior chamber, Retinal degeneration, Nyct... OMIM:267760
Retinitis Pigmentosa 9
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Macular edema, Cataract,... OMIM:180104
Retinitis Pigmentosa 38
Nyctalopia, Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy, P... OMIM:613862
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Blurred vision, Retinal ... ORPHA:411527
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Visual impairment, Abnormal retinal vascular morphology, Ret... ORPHA:1852
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Exfoliation Syndrome
Lens subluxation, Anisocoria, Asymmetry of intraocular pressure, Mydriasis, Pseudoexfoliation, Ca... OMIM:177650
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Testicular seminoma, Renal insufficiency, Hypogonadism, Cryptorchidism ORPHA:281090
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Renal agenesis, Unilateral renal agenesis, Ectopic k... OMIM:601076
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Usher Syndrome Type 3
High hypermetropia, Nyctalopia, Hemianopia, Visual loss, Astigmatism, Iris hypopigmentation, Cata... ORPHA:231183
Albinism, Oculocutaneous, Type Vii
Albinism OMIM:615179
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Abnormal renal morphology, Male infertility, Absent vas deferens, Obstructive azoos... ORPHA:48
Retinal Dystrophy And Obesity
Reduced visual acuity, Retinal detachment, Retinal dystrophy, Astigmatism, Retinal pigment epithe... OMIM:616188
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Pili canaliculi OMIM:617252
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:615922
Oculocerebral Hypopigmentation Syndrome, Cross Type
Corneal opacity, Choroideremia, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation,... ORPHA:2719
Ceroid Lipofuscinosis, Neuronal, 2
Progressive visual loss, Retinal degeneration OMIM:204500
Leber Congenital Amaurosis 9
Photophobia, Hypermetropia, Nyctalopia, Ultra-low vision with retained light perception, Retinal ... OMIM:608553
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Piebaldism
Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia iridis, Piebal... ORPHA:2884
Posterior Polymorphous Corneal Dystrophy
Photophobia, Corneal opacity, Very low visual acuity, Abnormal Descemet membrane morphology, Corn... ORPHA:98973
Griscelli Syndrome Type 2
Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79477
Retinitis Pigmentosa 68
Visual field defect, Retinal atrophy, Rod-cone dystrophy, Nyctalopia OMIM:615725
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail, Hyp... ORPHA:2251
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Nyctalopia, Reduced visual acuity, Attenuation of re... OMIM:618826
Riboflavin Transporter Deficiency
Abnormal autonomic nervous system physiology, Abnormality of macular pigmentation, Color vision d... ORPHA:97229
Cone-Rod Dystrophy 15
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Color visio... OMIM:613660
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Waardenburg Syndrome, Type 4C
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613266
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Retinal degeneration, Retinal pigment epithelial mottling, Attenuati... ORPHA:364055
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy, Visual impairment, Myopia ORPHA:75373
Vogt-Koyanagi-Harada Disease
Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Retinal detachment, Vitiligo, Cataract,... ORPHA:3437
Usher Syndrome Type 1
High hypermetropia, Nyctalopia, Hemianopia, Visual loss, Iris hypopigmentation, Cataract, Scotoma ORPHA:231169
Focal Facial Dermal Dysplasia Type I
Spotty hyperpigmentation, Low anterior hairline, Sparse hair, Distichiasis, Absent eyelashes, Spo... ORPHA:79133
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Achromatopsia 7
Photophobia, Absent foveal reflex, Reduced visual acuity, Hypoplasia of the fovea, Central scotom... OMIM:616517
Cone-Rod Dystrophy 2
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Chorioretinal atrophy, ... OMIM:120970
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Hermansky-Pudlak Syndrome 2
Photophobia, Ocular albinism, Fair hair, Chronic oral candidiasis, Generalized hypopigmentation, ... OMIM:608233
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration, Myopia OMIM:311000
Waardenburg Syndrome, Type 3
Blue irides, Partial albinism, Synophrys, Heterochromia iridis, White forelock, Premature graying... OMIM:148820
Phenylketonuria
Cataract, Blue irides, Fair hair, Generalized hypopigmentation OMIM:261600
Ceroid Lipofuscinosis, Neuronal, 1
Retinal degeneration, Macular degeneration, Optic atrophy, Progressive visual loss, Blindness OMIM:256730
Bestrophinopathy, Autosomal Recessive
Hypermetropia, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Vici Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Chronic mucocu... OMIM:242840
Hermansky-Pudlak Syndrome 10
Albinism, Ocular albinism OMIM:617050
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Freckling, Hyperpigmentation of the skin OMIM:194400
Retinitis Pigmentosa 51
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Reduced visual acuity, Attenua... OMIM:613464
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Retinitis Pigmentosa 27
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal... OMIM:613750
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract ORPHA:67048
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cy... OMIM:615993
Retinitis Pigmentosa 80
Progressive visual loss, Blindness, Macular atrophy OMIM:617781
Congenital Microcoria
Photophobia, Hemeralopia, Hypoplastic iris stroma, Nuclear cataract, Nyctalopia, Ocular hypertens... ORPHA:566
Acute Zonal Occult Outer Retinopathy
Constriction of peripheral visual field, Retinal pigment epithelial mottling, Photopsia, Scotoma,... ORPHA:284454
Cone Dystrophy 3
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Macular atrophy, Progressive visual ... OMIM:602093
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Retinal detachment, Aplasia/Hypoplasia of the lens, Visual loss, Iri... ORPHA:85194
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
N Syndrome
Abnormality of chromosome stability OMIM:310465
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Retinitis Punctata Albescens
Photophobia, Progressive visual field defects, Absent foveal reflex, Cystoid macular edema, Abnor... ORPHA:52427
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Hyperpigmentation of the ski... ORPHA:158681
Retinitis Pigmentosa 10
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:180105
Glaucoma, Primary Closed-Angle
Visual field defect, Ocular hypertension, Anterior synechiae of the anterior chamber, Increased c... OMIM:618880
Retinitis Pigmentosa 86
Cystoid macular edema, Nyctalopia, Nummular pigmentation of the fundus, Attenuation of retinal bl... OMIM:618613
Leber Congenital Amaurosis 4
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy,... OMIM:604393
Retinohepatoendocrinologic Syndrome
Optic disc pallor, Abnormality of skin pigmentation, Cone dystrophy OMIM:268040
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy ORPHA:46487
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Hyperpigmentation of the skin, Freckles in sun-exposed areas ORPHA:90342
Porphyria Cutanea Tarda, Type I
Hypertrichosis, Hyperpigmentation of the skin OMIM:176090
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias, Bifid cl... OMIM:600057
Nuchal Bleb, Familial
Stillbirth OMIM:257350
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Reduced visual acuity, Optic disc pallor, Cataract, Peripapillary atrophy OMIM:618195
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Generalized hirsutism, Irregular hyperpigmentation, Generalized hypo... ORPHA:1816
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Endometriosis, Horseshoe kidney, P... OMIM:613680
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Abnormal macular morphology, Hy... ORPHA:897
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Constriction of peripheral visual field OMIM:520000
Griscelli Syndrome
Abnormal eyebrow morphology, Silver-gray hair, Iris hypopigmentation, Abnormal eyelash morphology... ORPHA:381
Idiopathic Anterior Uveitis
Photophobia, Nuclear cataract, Increased cup-to-disc ratio, Ocular hypertension, Macular edema, B... ORPHA:280914
Mucolipidosis Iv
Photophobia, Corneal opacity, Retinal degeneration, Opacification of the corneal stroma, Optic at... OMIM:252650
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Panuveitis, Corneal stromal edema, Posterior uveitis, Tractional retinal... ORPHA:209959
Sjögren-Larsson Syndrome
Photophobia, Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Generalized ... ORPHA:816
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Retinitis Pigmentosa 56
Visual field defect, Nuclear cataract, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Att... OMIM:613581
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 73
Constriction of peripheral visual field, Retinal atrophy, Rod-cone dystrophy, Nyctalopia OMIM:616544
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia OMIM:618845
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Mottled pigmentation, Retinal dystrophy OMIM:616108
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Diplopia, Mizuo ... ORPHA:75382
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal thinning, Hypoplasia of the ... OMIM:617406
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Micropenis, Unilateral renal agenesis, Hypogonadotropic hypogonadism, Cryptor... OMIM:308750
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... ORPHA:894
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... OMIM:251270
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Cone-Rod Dystrophy, X-Linked, 3
Photophobia, Absent foveal reflex, Abnormality of macular pigmentation, Color vision defect, Redu... OMIM:300476
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Micropenis, Unilateral renal agenesis, Hypogonadotropic hypogonadism, Decreas... OMIM:308700
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98795
Oculoauricular Syndrome
Microphakia, Ultra-low vision with retained light perception, Rod-cone dystrophy, Ocular hyperten... OMIM:612109
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Anonychia, Abnormality of skin pigmentation, Nail dystrophy, Scarring alopecia ... ORPHA:79402
Retinal Cone Dystrophy 3B
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Astigmatism, Macular atrophy, Scotoma, Myopia OMIM:610356
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy, Visual imp... OMIM:616171
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Dysmenorrhea, Metrorrhagia, Renal agenesis, Uterus didelphys, Abnormal uterine cervi... ORPHA:3411
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Sjogren-Larsson Syndrome
Photophobia, Macular degeneration, Color vision defect, Opacification of the corneal epithelium, ... OMIM:270200
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Retinitis Pigmentosa 41
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigme... OMIM:612095
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:615982
Glaucoma 3, Primary Congenital, E
Megalocornea, Ocular hypertension OMIM:617272
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Myopia, Ocular hypertension OMIM:156600
Renal Agenesis
Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Retinitis Pigmentosa 77
Cystoid macular edema, Rod-cone dystrophy, Nyctalopia, Reduced visual acuity, Posterior subcapsul... OMIM:617304
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Cone-Rod Dystrophy 21
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Macular atrophy OMIM:616502
Retinitis Pigmentosa 58
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic... OMIM:613617
Woolly Hair, Autosomal Dominant
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology OMIM:194300
Immunodeficiency 54
Chromosome breakage OMIM:609981
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Ceroid Lipofuscinosis, Neuronal, 5
Progressive visual loss, Retinal degeneration OMIM:256731
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive visual ... OMIM:264420
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Ocular hypertension OMIM:610023
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Synophrys, Heterochrom... ORPHA:1390
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism ORPHA:1352
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Unilateral renal agenesis, Gonadal dysgenesis, Hypogonadism, Cryptorchidism ORPHA:3306
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ocular hypertension, Ectopia lentis, Myopia OMIM:614819
Self-Improving Dystrophic Epidermolysis Bullosa
Anonychia, Abnormality of the subungual region, Abnormality of skin pigmentation, Nail dystrophy ORPHA:79411
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Edinburgh Malformation Syndrome
Generalized hirsutism, Hirsutism, Synophrys, Brushfield spots, Low posterior hairline ORPHA:1895
Spinocerebellar Ataxia 7
Optic atrophy, Progressive visual loss, Pigmentary retinopathy, Macular degeneration OMIM:164500
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Abnormality of the kidney, Hypoplasia of the vagina, Horseshoe kidney,... ORPHA:3109
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia OMIM:617661
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced sperm... OMIM:137920
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Mental Retardation, Buenos Aires Type
Fair hair, Blue irides, Curly eyelashes, Hyperconvex thumb nails, Long eyelashes OMIM:249630
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Waardenburg Syndrome, Type 1
Hypoplastic iris stroma, Thick eyebrow, Blue irides, Partial albinism, White eyebrow, White eyela... OMIM:193500
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Hyperpigmentati... OMIM:104100
Cone-Rod Dystrophy 8
Photophobia, Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degene... OMIM:605549
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, High hypermetropia, Retinal pigment epithelial mottling,... OMIM:145350
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Cone-Rod Dystrophy 10
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood v... OMIM:610283
Free Sialic Acid Storage Disease
Iris hypopigmentation, Abnormality of skin pigmentation ORPHA:834
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Oculocerebral Hypopigmentation Syndrome Of Preus
Generalized hypopigmentation OMIM:257790
Clouston Syndrome
Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Alop... OMIM:129500
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Abnormality of hair texture, Nail dystrophy, Nail dysplasia OMIM:601957
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
High hypermetropia, Retinal degeneration, Attenuation of retinal blood vessels, Geographic atroph... OMIM:619260
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:411511
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinitis Pigmentosa 45
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pe... OMIM:613767
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Broad eyebrow, Macular degeneration OMIM:612948
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Idiopathic Trachyonychia
Nail pits, Toenail dysplasia, Patchy alopecia, Abnormality of the periungual region, Fragile nail... ORPHA:79153
Hyperostosis Cranialis Interna
Optic atrophy, Reduced visual acuity, Facial palsy, Ocular hypertension OMIM:144755
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Retinitis Pigmentosa 79
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Optic di... OMIM:617460
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Spastic Paraplegia 23, Autosomal Recessive
Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body hair OMIM:270750
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Astigmatism, Cata... OMIM:615986
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Abnormality of skin pigmentation, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Ambiguous genitalia, Crossed fused renal ectopia, Micropenis OMIM:618142
Cone-Rod Dystrophy 6
Photophobia, Hemeralopia, Nyctalopia, Chorioretinal atrophy, Reduced visual acuity, Progressive n... OMIM:601777
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, Recurrent urinary ... ORPHA:363444
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2