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Gene: Cdkn2a MGI:104738

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Gene Summary

Name:
cyclin dependent kinase inhibitor 2A
Synonyms:
ARF-INK4a,  INK4a-ARF,  p19ARF,  Ink4a/Arf,  MTS1,  p16,  p19ARF,  Arf,  Pctr1,  p16INK4a

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IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
cataract Cdkn2atm1a(EUCOMM)Wtsi HOM Early adult 2.82×10-06
abnormal lens morphology Cdkn2atm1a(EUCOMM)Wtsi HOM Early adult 2.82×10-06
abnormal eye morphology Cdkn2atm1a(EUCOMM)Wtsi HOM   Early adult 1.80×10-07

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote Ambiguous
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

38 Images

View images
Legacy Phenotype Associated Images
Cdkn2atm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Cdkn2atm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Cdkn2atm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Cdkn2atm1a(EUCOMM)Wtsi
forearm, HOM, Female, WTSI
Cdkn2atm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI

View all 100 images

Cdkn2atm1a(EUCOMM)Wtsi
eye, persistence of hyaloid vascular system, abnormal retinal pigmentation, HOM, Male, WTSI
Cdkn2atm1a(EUCOMM)Wtsi
eye, persistence of hyaloid vascular system, abnormal retinal pigmentation, HOM, Female, WTSI
Cdkn2atm1a(EUCOMM)Wtsi
eye, cataracts, HOM, Female, WTSI
Cdkn2atm1a(EUCOMM)Wtsi
eye, corneal opacity, HOM, Female, WTSI
Cdkn2atm1a(EUCOMM)Wtsi
eye, cataracts, HOM, Female, WTSI

View all 22 images

Cdkn2atm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Cdkn2atm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Cdkn2a mutations

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

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

The table below shows human diseases associated to Cdkn2a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Melanoma, Cutaneous Malignant, Susceptibility To, 2
Cutaneous melanoma OMIM:155601
Melanoma-Astrocytoma Syndrome
Astrocytoma, Cutaneous melanoma OMIM:155755
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Retinopathy, Neoplasm of the breast ORPHA:618
Adrenocortical Carcinoma
Adrenocortical carcinoma, Lung adenocarcinoma ORPHA:1501
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, Hepatosplenomegaly, Lymphadenopathy, Neopl... ORPHA:1333

The table below shows human diseases predicted to be associated to Cdkn2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Meningioma, Familial, Susceptibility To
Meningioma OMIM:607174
Spermatogenic Failure 17
Male infertility OMIM:617214
Schwannomatosis 2
Schwannoma, Spinal cord tumor OMIM:615670
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Glioma Susceptibility 2
Oligodendroglioma, Meningioma OMIM:613028
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Adrenocortical Carcinoma, Hereditary
Adrenocortical carcinoma, Choroid plexus carcinoma OMIM:202300
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Prostate Cancer/Brain Cancer Susceptibility
Neoplasm of the central nervous system, Prostate cancer OMIM:603688
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Exudative Vitreoretinopathy 3
Retinal detachment, Reduced visual acuity, Exudative vitreoretinopathy, Retinal hole, Retinal fol... OMIM:605750
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma, Spinal cord tumor, Meningioma OMIM:162091
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Exudative Vitreoretinopathy 5
Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re... OMIM:613310
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
Melanoma, Cutaneous Malignant, Susceptibility To, 2
Cutaneous melanoma OMIM:155601
Glioma Susceptibility 1
Glioblastoma multiforme, Astrocytoma, Ependymoma OMIM:137800
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Wagner Vitreoretinopathy
Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Chorioretinal ... OMIM:143200
Medulloblastoma
Medulloblastoma OMIM:155255
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... OMIM:312700
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Birdshot Chorioretinopathy
Arcuate scotoma, Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Cho... ORPHA:179
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Myopia, Chorioretinal dystrophy, Chorioretinal atrophy, Visual impairment OMIM:600790
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... ORPHA:209943
Retinopathy Of Prematurity
Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascular morphology, Abnormal macular ... ORPHA:90050
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... OMIM:613194
Retinitis Pigmentosa 42
Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ... OMIM:612943
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Melanoma-Astrocytoma Syndrome
Astrocytoma, Cutaneous melanoma OMIM:155755
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Large central visual field defect, Retinal atrophy, Retinal pigment epithelial atrophy... ORPHA:59181
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Retinitis Pigmentosa Inversa With Deafness
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa, External genital hypoplasia OMIM:268010
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Fibromatosis, Gingival, 1
Gingival fibromatosis OMIM:135300
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Macular Dystrophy, Patterned, 2
Drusen, Pattern dystrophy of the retina, Reduced visual acuity, Foveal hyperpigmentation OMIM:608970
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Visual loss, Nyc... ORPHA:75377
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Adult-Onset Foveomacular Vitelliform Dystrophy
Visual field defect, Abnormality of vision, Retinal nonattachment, Vitelliform-like macular lesio... ORPHA:99000
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Stargardt Disease 3
Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment, Macular flecks OMIM:600110
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Disseminated Superficial Actinic Porokeratosis
Pruritus, Squamous cell carcinoma ORPHA:79152
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Macular Dystrophy, Vitelliform, 5
Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula... OMIM:616152
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Chordoma, Susceptibility To
Chordoma, Astrocytoma OMIM:215400
Cheilitis Glandularis
Neoplasm, Squamous cell carcinoma ORPHA:1221
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization, Reduced visual acuity OMIM:617111
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Nondisjunction
Decreased fertility OMIM:158250
Retinal Dystrophy And Obesity
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... OMIM:616188
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Retinitis Pigmentosa 29
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Mildly reduced visual acuity, Lattice retinal degeneration, Vitreous floaters... OMIM:614292
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Metamorphopsia, Peripapillary chorioretinal ... ORPHA:75376
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Myopia, Retinal detachment, Optic disc pallor, Central scotoma, Reduced ... OMIM:300476
Myeloproliferative Disorder, Chronic, With Eosinophilia
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder OMIM:131440
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... OMIM:613736
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Fibromatosis, Gingival, With Progressive Deafness
Gingival fibromatosis OMIM:135550
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... OMIM:608051
Hereditary Gingival Fibromatosis
Gingival fibromatosis ORPHA:2024
Congenital Glaucoma
Retinal detachment, Visual loss ORPHA:98976
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia OMIM:606764
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Blindness, Retinal atrophy, Retinal dystrophy, Nyctalopi... OMIM:180210
Retinitis Pigmentosa 11
Optic disc pallor, Blindness, Constriction of peripheral visual field, Bone spicule pigmentation ... OMIM:600138
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... OMIM:136550
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno... OMIM:153600
Macular Dystrophy, Patterned, 1
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Reduced visual acuity, Absent foveal re... OMIM:169150
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Retinitis Pigmentosa 27
Blindness, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macu... OMIM:613750
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... OMIM:605670
Retinitis Pigmentosa 35
Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia OMIM:610282
Optic Atrophy 9
Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s... OMIM:616289
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Fibromatosis, Gingival, 5
Gingival fibromatosis OMIM:617626
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Bietti Crystalline Dystrophy
Blindness, Constriction of peripheral visual field, Large central visual field defect, Retinal pi... ORPHA:41751
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Stickler Syndrome, Type I, Nonsyndromic Ocular
Myopia, Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Macular Dystrophy, Vitelliform, 2
Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ... OMIM:153700
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... OMIM:608850
Exudative Vitreoretinopathy 4
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... OMIM:601813
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Macular Dystrophy, Vitelliform, 1
Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ... OMIM:153840
Exudative Vitreoretinopathy 1
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... OMIM:133780
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Choroideremia
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... OMIM:303100
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Scintillating s... ORPHA:97341
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Ring scotoma, Const... OMIM:616544
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Newfoundland Rod-Cone Dystrophy
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect OMIM:607476
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Nyctalopia, Chorioretinal atrophy, Optic atrophy, Rod-co... OMIM:607921
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Cone-Rod Dystrophy 24
Pericentral scotoma, Myopia, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macul... OMIM:620342
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Senior-Loken Syndrome 6
Rod-cone dystrophy, Reduced visual acuity, Visual impairment OMIM:610189
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Severely reduced visual acuity, Rod-cone dystrophy ORPHA:3011
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Oslam Syndrome
Neoplasm, Anemia, Osteosarcoma OMIM:165660
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization, Reduced visual acuity OMIM:616118
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... OMIM:614181
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, B... OMIM:221900
Retinitis Pigmentosa 80
Blindness, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Progressive visu... OMIM:617781
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... OMIM:615725
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1
Retinal telangiectasia, Central scotoma, Retinal nerve fiber edema, Central retinal vessel vascul... OMIM:619382
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness, Chorioretinal atrophy OMIM:136900
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Subretinal exudate, Peripheral retinal avascularization, Peripheral vitreous ... OMIM:305390
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... OMIM:193235
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:610359
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Macular Dystrophy, Vitelliform, 4
Drusen, Macular dystrophy, Vitelliform-like macular lesions, Moderately reduced visual acuity OMIM:616151
Macular Dystrophy, Retinal, 4
Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a... OMIM:619977
Stickler Syndrome Type 2
Retinal detachment, Myopia, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... OMIM:617123
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Retinitis Pigmentosa 4
Blindness, Retinal atrophy, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual a... OMIM:613731
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Retinitis Pigmentosa 85
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity OMIM:618345
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu... OMIM:612712
Retinitis Pigmentosa 78
Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac... OMIM:617433
Retinitis Pigmentosa 18
Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... OMIM:601414
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Refractory anemia with ringed sideroblasts, Erythro... OMIM:133180
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Retinitis Pigmentosa 70
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... OMIM:615922
Familial Exudative Vitreoretinopathy
Macular exudate, Blindness, Peripheral retinal avascularization, Rhegmatogenous retinal detachmen... ORPHA:891
Cone-Rod Dystrophy 12
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... OMIM:612657
Retinitis Pigmentosa 63
Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision OMIM:614494
Retinitis Pigmentosa 20
Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of... OMIM:613794
Bothnia Retinal Dystrophy
Large central visual field defect, Ring scotoma, Bone spicule pigmentation of the retina, Retinal... ORPHA:85128
Macular Dystrophy, Vitelliform, 3
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... OMIM:608161
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Seizure, Osteosarcoma OMIM:260500
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:617871
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... ORPHA:97286
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... OMIM:304020
Retinitis Pigmentosa 38
Optic disc pallor, Constriction of peripheral visual field, Macular atrophy, Peripheral retinal a... OMIM:613862
Macular Degeneration, Atrophic, X-Linked
Macular degeneration, Reduced visual acuity OMIM:300834
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia OMIM:616502
Retinitis Pigmentosa 47
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment OMIM:613758
Nystagmus 2, Congenital, Autosomal Dominant
Mildly reduced visual acuity, Reduced visual acuity, Visual impairment OMIM:164100
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular dystrophy, Blindness, Reduced visual acuity OMIM:601553
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Vi... ORPHA:94058
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Constriction of peripheral visual field, Retinal pigment ep... OMIM:613660
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Leber Congenital Amaurosis 11
Reduced visual acuity, Visual impairment OMIM:613837
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... OMIM:616079
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma ORPHA:2760
Myopia 3, Autosomal Dominant
Retinal detachment, High myopia OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment, High myopia OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment, High myopia OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment, High myopia OMIM:617238
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal pigment... OMIM:619007
Exudative Vitreoretinopathy 6
Myopia, Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment ... OMIM:616468
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i... OMIM:613428
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma ORPHA:66661
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:601718
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... ORPHA:251636
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... OMIM:600852
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
N Syndrome
Cryptorchidism, Leukemia, Neoplasm, Hypospadias OMIM:310465
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia OMIM:252270
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Prolonged Electroretinal Response Suppression 2
Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity... OMIM:620344
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Pheochromocytoma/Paraganglioma Syndrome 5
Paraganglioma OMIM:614165
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... OMIM:609913
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Retinitis Pigmentosa
Rod-cone dystrophy, Nyctalopia, Constriction of peripheral visual field, Abnormality of fundus pi... OMIM:268000
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Retinitis Pigmentosa 7
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... OMIM:608133
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten... OMIM:614180
Corneal Dystrophy, Avellino Type
Reduced visual acuity, Visual impairment OMIM:607541
Retinitis Pigmentosa 71
Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c... OMIM:616394
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:614500
Fleck Retina, Familial Benign
Nyctalopia, Retinal flecks, Visual impairment OMIM:228980
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... OMIM:604393
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Central scotoma, Retinal pigment epithelial mottling, Reduced visual acu... OMIM:600977
Cone Rod Dystrophy
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect ORPHA:1872
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular scar, Drusen, Macular degeneration, Progressive visual loss OMIM:615439
Myopia 28, Autosomal Recessive
Retinal detachment, High myopia OMIM:619781
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... ORPHA:1473
Retinitis Pigmentosa 1
Myopia, Optic disc pallor, Constriction of peripheral visual field, Bone spicule pigmentation of ... OMIM:180100
Fundus Albipunctatus
Nyctalopia, Retinal flecks, Fundus albipunctatus OMIM:136880
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Choroideremia
Myopia, Abnormality of retinal pigmentation, Nyctalopia, Abnormality of vision, Progressive visua... ORPHA:180
Cataract 7
Visual loss, Mildly reduced visual acuity OMIM:115660
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:617460
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy, Visual impairment OMIM:613827
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... OMIM:602093
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Retinal Capillary Malformation
Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre... ORPHA:71213
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Uveal Melanoma
Retinal detachment, Metamorphopsia, Choroidal melanoma, Iris melanoma, Photopsia, Visual loss, In... ORPHA:39044
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:606068
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... OMIM:615780
Cavitary Optic Disc Anomalies
Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect OMIM:611543
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:613582
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Central scotoma... ORPHA:827
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Blindness, Metamorphopsia, Constriction of peripheral visual field, Reti... OMIM:120970
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... OMIM:300029
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 92
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... OMIM:619614
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels OMIM:165510
Eales Disease
Peripheral retinal neovascularization, Blindness, Rhegmatogenous retinal detachment, Optic disc p... ORPHA:40923
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Isosexual precocious puberty, Moderately reduced visual acui... ORPHA:2788
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... OMIM:618220
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... ORPHA:79140
Usher Syndrome, Type Iiia
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect OMIM:276902
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... OMIM:608194
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... OMIM:600059
Full Nf2-Related Schwannomatosis
Astrocytoma, Abnormal optic nerve morphology, Facial palsy, Posterior subcapsular cataract, Epend... ORPHA:637
Retinitis Pigmentosa 2
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... OMIM:312600
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... ORPHA:296
Bothnia Retinal Dystrophy
Macular degeneration, Nyctalopia, Retinal dystrophy OMIM:607475
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi... OMIM:616170
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Tritanopia
Abnormal retinal morphology, Color vision test abnormality, Reduced visual acuity, Photophobia, T... ORPHA:88629
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... ORPHA:324416
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... OMIM:618173
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Vitreoretinochoroidopathy
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Pulverulent cataract, De... OMIM:193220
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, High myopia, Microcornea, Cortical pulver... OMIM:610202
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia ORPHA:35737
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, High myopia OMIM:614284
Achromatopsia 7
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Reduced visual acuity, Absent foveal r... OMIM:616517
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... OMIM:618826
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... OMIM:620228
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal atrophy... OMIM:618144
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Congenital blindness ORPHA:436182
Nystagmus 1, Congenital, X-Linked
Mildly reduced visual acuity, Reduced visual acuity OMIM:310700
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Premature Aging Syndrome, Okamoto Type
Neoplasm, Osteosarcoma OMIM:601811
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Redu... OMIM:309300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Night Blindness, Congenital Stationary, Type1I
Tritanomaly, Nyctalopia OMIM:618555
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Carney Triad
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenom... ORPHA:139411
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Cone Dystrophy 4
Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi... OMIM:613093
Usher Syndrome, Type Iid
Nyctalopia, Rod-cone dystrophy OMIM:611383
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia ORPHA:2714
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Cataract OMIM:615995
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Cone-Rod Dystrophy 18
Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment... OMIM:615374
Optic Atrophy 12
Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I... OMIM:618977
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:620102
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon ORPHA:447877
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Leber Congenital Amaurosis 2
Optic disc pallor, Blindness, Nyctalopia, Fundus atrophy, Reduced visual acuity, Absent foveal re... OMIM:204100
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract OMIM:601794
Severe Early-Childhood-Onset Retinal Dystrophy
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... ORPHA:364055
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias OMIM:619096
Ceroid Lipofuscinosis, Neuronal, 7
Blindness, Visual loss, Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:608553
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy, Hyp... OMIM:172870
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma OMIM:224750
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... OMIM:610356
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Idiopathic Uveal Effusion Syndrome
Metamorphopsia, Reduced visual acuity, Subretinal fluid, Visual field defect, Exudative retinal d... ORPHA:209956
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Blue Cone Monochromacy
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen... OMIM:303700
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... OMIM:609049
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract ORPHA:363741
Autosomal Recessive Stickler Syndrome
Retinal detachment, Myopia, Cataract, Amblyopia, Vitreoretinopathy, Astigmatism ORPHA:250984
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Optic atrophy, Severely reduced visual acuity OMIM:309555
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis... ORPHA:1852
Congenital Stationary Night Blindness
Myopia, Abnormality of retinal pigmentation, Retinal thinning, Nyctalopia, Reduced visual acuity,... ORPHA:215
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks, Reduced visual acuity, Hypermetropia OMIM:611809
Junctional Epidermolysis Bullosa Inversa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79405
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Reduced visual acuity, Absent foveal r... OMIM:615147
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Myopia, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lac... OMIM:152950
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy OMIM:179840
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Liposarcoma
Sarcoma ORPHA:69078
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Myopia, Cataract, Blindness, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Achromatopsia
Hypoplasia of the fovea, Myopia, Attenuation of retinal blood vessels, Retinal pigment epithelial... ORPHA:49382
Epidermodysplasia Verruciformis
Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous cell carcinoma, Verrucae ORPHA:302
Night Blindness, Congenital Stationary, Type 1F
Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... OMIM:615058
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de... OMIM:180020
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal atrophy... OMIM:617304
Leber Congenital Amaurosis 16
Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im... OMIM:614186
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Acute Zonal Occult Outer Retinopathy
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... ORPHA:284454
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Cerebral Cavernous Malformations 3
Seizure, Cerebral cavernous malformation, Paralysis OMIM:603285
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Blindness, Visual loss, Lens s... ORPHA:171844
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... OMIM:615973
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... OMIM:613756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Retinitis Pigmentosa 6
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin... OMIM:312612
Leber Congenital Amaurosis 14
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... OMIM:613341
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Uterine rupture, Aplasia/Hypopla... ORPHA:649
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Cataract, Vacuolated lymphocytes, Optic atrophy, Reduced visual acuity, Macular degene... OMIM:204200
Retinal Cone Dystrophy 3A
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia OMIM:610024
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... OMIM:610478
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... ORPHA:83469
Late-Onset Junctional Epidermolysis Bullosa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79406
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Nyctalopia, Retinal dystrophy, Reduced visual acuity, Micropenis OMIM:610156
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im... OMIM:258870
Leber Congenital Amaurosis 3
Visual loss, Nyctalopia, Constriction of peripheral visual field OMIM:604232
Bardet-Biedl Syndrome 4
External genital hypoplasia, Cryptorchidism, Nyctalopia, Hypogonadism, Rod-cone dystrophy, Retina... OMIM:615982
Rhabdoid Tumor
Renal neoplasm, Lymphadenopathy, Neoplasm of the central nervous system, Anemia, Neoplasm of the ... ORPHA:69077
Peripheral Cone Dystrophy
Pericentral scotoma, Optic disc pallor, Cone/cone-rod dystrophy, Peripheral retinal degeneration,... OMIM:609021
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Nance-Horan Syndrome
Retinal detachment, Cataract, Visual loss, Microcornea, Microphthalmia, Visual impairment ORPHA:627
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Stickler Syndrome Type 1
Retinal detachment, Myopia, Cataract, Visual loss, Abnormal vitreous humor morphology ORPHA:90653
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Bardet-Biedl Syndrome 5
External genital hypoplasia, Reduced visual acuity, Hypogonadism, Macular dystrophy, Micropenis, ... OMIM:615983
Cataract 42
Cataract, Developmental cataract OMIM:115900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... ORPHA:158057
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Fanconi Anemia, Complementation Group G
Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia OMIM:614082
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... ORPHA:2591
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... OMIM:278760
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia OMIM:246470
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Retinitis Pigmentosa 93
Retinal dots, Constriction of peripheral visual field, Reduced visual acuity, Rod-cone dystrophy OMIM:619845
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:615233
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... OMIM:616171
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613617
Stickler Syndrome, Type Ii
Retinal detachment, Myopia, Cataract, Abnormal vitreous humor morphology OMIM:604841
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Combined Immunodeficiency Due To Dock8 Deficiency
Squamous cell carcinoma of the vulva, Verrucae, Squamous cell carcinoma ORPHA:217390
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... OMIM:600105
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Meige Disease
Angiosarcoma, Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... OMIM:617879
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... ORPHA:247798
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:613983
Gardner Syndrome
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Visual impairment, Blurred vision OMIM:204870
Self-Improving Dystrophic Epidermolysis Bullosa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79411
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Myopia, Cataract, Corneal opacity, Coloboma, Microphthalmia OMIM:613153
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc... ORPHA:440727
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Blindness, Rod-cone dystrophy, Retinopathy OMIM:551500
Night Blindness, Congenital Stationary, Type 1H
Hypermetropia, Photophobia, Nyctalopia, Mild myopia OMIM:617024
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Constriction of peripheral visual field, Congenital stationary night blindness... OMIM:616389
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Butyrylcholinesterase Deficiency
Neoplasm, Paralysis ORPHA:132
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:180105
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Micropenis, Visual ... ORPHA:75858
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid... ORPHA:873
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae OMIM:614038
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Reduced visual acuity, Microcornea, Microphth... OMIM:615145
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... OMIM:605549
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m... ORPHA:436274
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:300915
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis OMIM:616871
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Central scotoma, Nyctalopia, Progressive visual field defects, ... ORPHA:52427
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:612095
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... OMIM:601777
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Achondrogenesis Type 2
Retinal detachment, Myopia, Cataract, Abnormal vitreous humor morphology, Lens subluxation ORPHA:93296
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... OMIM:619041
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Blindness, Abnor... ORPHA:791
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size, High myopia OMIM:300851
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... ORPHA:824
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... OMIM:616108
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Myopia, Splenomegaly, Abnormal pupil morphology... ORPHA:2969
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Optic nerve dysplasia, Developmental cataract OMIM:246000
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Spleno... OMIM:614470
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Nathalie Syndrome
Cataract ORPHA:2663
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Myeloid leukemia, Aplastic anemia, Leukemia OMIM:614743
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... OMIM:613464
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Nyctalopia OMIM:618632
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Myopia, Blindness, Constriction of peripheral visual field, Retinal atro... OMIM:617406
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Trichomegaly
Cataract OMIM:190330
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Chromosome Xq21 Deletion Syndrome
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at... OMIM:303110
Cone-Rod Dystrophy 19
Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my... OMIM:615860
Spondylo-Ocular Syndrome
Retinal detachment, Myopia, Cataract, Aplasia/Hypoplasia of the lens, Visual loss, Microphthalmia... ORPHA:85194
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:616469
Leber Congenital Amaurosis 1
Keratoconus, Blindness, Cataract, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc d... OMIM:204000
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... OMIM:610283
Neuroblastoma, Susceptibility To, 2
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma OMIM:613013
Donnai-Barrow Syndrome
Retinal detachment, Myopia, Retinal dystrophy, Bicornuate uterus, Abnormality of the uterus, Prog... ORPHA:2143
Retinitis Pigmentosa 59
Constriction of peripheral visual field, Cryptorchidism, Nyctalopia, Reduced visual acuity, Micro... OMIM:613861
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Blindness, Corneal dystrophy, Abnormal retinal v... ORPHA:3205
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Scotoma, Mac... OMIM:217080
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Myopia, Remnants of the hyaloid vascular system, Optic nerve h... OMIM:603671
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia ORPHA:98827
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Optic Pathway Glioma
Papilledema, Blindness, Precocious puberty, Visual loss, Neurofibroma, Optic atrophy, Reduced vis... ORPHA:2086
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... OMIM:613767
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... ORPHA:99818
Åland Islands Eye Disease
Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ... ORPHA:178333
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Iris coloboma, Chorioretinal coloboma, High myopia OMIM:617662
Antiphospholipid Syndrome, Familial
Retinal detachment, Visual loss, Vitritis, Central retinal artery occlusion, Retinal vasculitis, ... OMIM:107320
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Co... ORPHA:899
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret... ORPHA:414
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Myopia, Cataract, Blindness, Optic nerve hypoplasia, Optic atrophy, Abnormali... ORPHA:370959
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Optic atrophy, Coloboma OMIM:274270
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... OMIM:614172
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypogonadism, Microphthalmia, Visua... ORPHA:1466
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Retinoblastoma
Hypopyon, Abnormality of retinal pigmentation, Glioma, Rhabdomyosarcoma, Subretinal pigment epith... ORPHA:790
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Oculoauricular Syndrome
Ultra-low vision with retained light perception, Sclerocornea, Microcornea, Iris cyst, Chorioreti... OMIM:612109
Idiopathic Panuveitis
Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R... ORPHA:280921
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Red-green ... ORPHA:67042
Cowden Syndrome 1
Myopia, Cataract, Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Angioid strea... OMIM:158350
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Lymphoma, Anal atresia ORPHA:1572
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Wolfram-Like Syndrome, Autosomal Dominant
Diabetes mellitus, Blind-spot enlargment, Reduced visual acuity, Type II diabetes mellitus, Sever... OMIM:614296
Werner Syndrome
Diabetes mellitus, Elevated hemoglobin A1c, Hypogonadism, Meningioma, Osteosarcoma OMIM:277700
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:602772
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Squamous cell carcinoma OMIM:615225
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma OMIM:602540
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... OMIM:611131
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... OMIM:605808
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Thrombocytopenia, Elevated circulating thyroid-stimulati... OMIM:620185
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Oculocutaneous Albinism Type 6
Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Pho... ORPHA:370097
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Co... OMIM:616732
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:613581
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Actinic keratosis, Oropharyngeal squamous cell carcinoma, Breast carcinoma OMIM:614564
Ceroid Lipofuscinosis, Neuronal, 1
Blindness, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Progressive visual loss, ... OMIM:256730
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:600132
Cancer-Associated Retinopathy
Vitritis, Photophobia, Prostate cancer, Neoplasm of the breast, Pancreatic adenocarcinoma, Retina... ORPHA:71505
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status epilepticus,... ORPHA:71277
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613810
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... ORPHA:2526
Bardet-Biedl Syndrome 3
External genital hypoplasia, Nyctalopia, Pigmentary retinopathy, Rod-cone dystrophy, Visual impai... OMIM:600151
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Abnorm... OMIM:601399
Xeroderma Pigmentosum, Complementation Group B
Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Basal cell ... OMIM:610651
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Corneal Dystrophy, Lattice Type Iiia
Reduced visual acuity, Visual impairment OMIM:608471
Partington Syndrome
Macroorchidism ORPHA:94083
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment, Myopia, Cataract ORPHA:1856
Chromosome Xp11.3 Deletion Syndrome
Moderate myopia, Constriction of peripheral visual field, Blindness, Cryptorchidism, Nyctalopia, ... OMIM:300578
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Neurofibromatosis Type 1
Astrocytoma, Abnormality of vision, Multiple lipomas, Neoplasm, Pheochromocytoma, Chorioretinal c... ORPHA:636
Werner Syndrome
Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neoplasm, Acral lentiginous ... ORPHA:902
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract, Visual impairment ORPHA:3437
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Photophobia, Basal cell carcinoma, ... ORPHA:79434
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... ORPHA:86841
Night Blindness, Congenital Stationary, Type 1E
Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia OMIM:614565
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma ORPHA:281090
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... OMIM:618195
Pheochromocytoma/Paraganglioma Syndrome 7
Pheochromocytoma, Paraganglioma OMIM:618475
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Galactosemia Iv
Cataract OMIM:618881
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness, Optic atrophy ORPHA:2787
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Myopia, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, B... OMIM:236670
Albinism, Oculocutaneous, Type Vi
Photophobia, Hypoplasia of the fovea, Reduced visual acuity, Visual impairment OMIM:113750
Storage Pool Platelet Disease
Decreased mean platelet volume, Myelodysplasia, Acute leukemia OMIM:185050
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... ORPHA:157794
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Visual loss, Acute leukemia, Abnormal opti... ORPHA:3226
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Myopia, Cataract, Microphthalmia, Hypopigmentation of the fundus ORPHA:163649
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Microphthalmia, Syndromic 5
Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Microcornea, Coloboma, Microph... OMIM:610125
Recessive Dystrophic Epidermolysis Bullosa Inversa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79409
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Retinal dystrophy, Reduced visual acuity, Secondary amenorrhea OMIM:617175
Facioscapulohumeral Muscular Dystrophy 1
Exudative retinal detachment, Facial palsy, Retinal telangiectasia OMIM:158900
Primary Erythromelalgia
Leukemia ORPHA:90026
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Nephroblastoma, Leukemia, Meningioma OMIM:602501
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Anemia, Osteosarcoma OMIM:620072
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Pruritus, Esophageal neoplasm... ORPHA:523
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia, Coloboma OMIM:615665
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... OMIM:210370
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... ORPHA:97685
Optic Atrophy 1
Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Centrocecal sco... OMIM:165500
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... ORPHA:892
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, M... ORPHA:221008
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Ovarian Fibrothecoma
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma ORPHA:314478
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Retinitis Pigmentosa 75
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co... OMIM:617023
Aicardi Syndrome
Retinal detachment, Cataract, Precocious puberty, Chorioretinal lacunae, Optic disc coloboma, Opt... OMIM:304050
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Congenital Macroglossia
Macroglossia, Neurofibroma ORPHA:2430
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive... OMIM:264420
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Hypospadias, Septate v... OMIM:300166
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,... OMIM:619649
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cataract, Optic disc pallor OMIM:613730
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Reduc... OMIM:612989
Yellow Nail Syndrome
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Hypoplasia of lymphatic v... ORPHA:662
Stickler Syndrome, Type I
Retinal detachment, Myopia, Cataract, Blindness, Vitreoretinopathy, Membranous vitreous appearanc... OMIM:108300
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620157
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia of inadequate pro... ORPHA:75564
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... OMIM:120330
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... ORPHA:276399
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Dermatomyositis
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma ORPHA:221
Non-Functioning Pituitary Adenoma
Bitemporal hemianopia, Decreased response to growth hormone stimulation test, Reduced circulating... ORPHA:91349
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79410
Retinitis Pigmentosa 23
Attenuation of retinal blood vessels, Constriction of peripheral visual field, Retinal pigment ep... OMIM:300424
Achromatopsia 3
Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatopsia, Severe... OMIM:262300
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Basal cell ca... ORPHA:221016
Microphthalmia With Brain And Digit Anomalies
Myopia, Cataract, Retinal dystrophy, Anophthalmia, Sclerocornea, Cryptorchidism, Microcornea, Cho... ORPHA:139471
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion, Blindness ORPHA:73267
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Bilateral vestibular schwannoma, Paraspinal neurofibroma, Palmar neurofibroma, Lisch nodules, Men... OMIM:162260
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Night Blindness, Congenital Stationary, Type 1B
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... OMIM:257270
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Donnai-Barrow Syndrome
Retinal detachment, Cataract, Retinal dystrophy, High myopia, Hypoplasia of the iris, Bicornuate ... OMIM:222448
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:195
Cone-Rod Dystrophy And Hearing Loss 2
Photophobia, Reduced visual acuity OMIM:618358
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Galactosemia Ii
Cataract OMIM:230200
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Ataxia, Rigidity, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the ... ORPHA:1183
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract OMIM:616722
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Anemia ORPHA:375
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology, Coloboma ORPHA:1617
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Spinal cord tumor, Ovarian neoplasm, Peripheral primiti... ORPHA:370348
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Myelodysplasia, Erythroid hypoplasia, Reticulocyto... ORPHA:124
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Rena... OMIM:135150
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma ORPHA:60032
Intermediate Uveitis
Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ... ORPHA:279914
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Seizure, Progressive cerebellar ataxia, Progressive gait a... ORPHA:101112
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Squamous cell carcinoma, Atopic dermatitis, Eczema, Disseminated molluscum contagiosum OMIM:243700
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Photophobia, Corneal keratic precipitates, Con... ORPHA:209959
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Hyperme... OMIM:305400
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Achromatopsia 2
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Reduced visual acuity, Absent foveal refle... OMIM:216900
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Leber Congenital Amaurosis 15
Attenuation of retinal blood vessels, Myopia, Optic disc pallor, Constriction of peripheral visua... OMIM:613843
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma ORPHA:2712
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, ... ORPHA:485
Lissencephaly 8
Microphthalmia, Cataract, Optic atrophy OMIM:617255
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Fibroma, Lymphadenopathy, Microcytic anemia OMIM:619750
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Narp Syndrome
Abnormal visual field test, Blindness, Constriction of peripheral visual field, Optic disc pallor... ORPHA:644
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Leukodystrophy, Hypomyelinating, 14
Blindness OMIM:617899
Marshall Syndrome
Retinal detachment, Myopia, Cataract, Ectopia lentis, Amblyopia, Abnormal vitreous humor morpholo... ORPHA:560
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Retinal dystrophy, Facial palsy, Developmental cataract OMIM:613155
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Usher Syndrome Type 3
Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia ORPHA:231183
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Blindness OMIM:607674
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Nyctalopia OMIM:277350
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia... OMIM:300843
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Gombo Syndrome
Microphthalmia OMIM:233270
Night Blindness, Congenital Stationary, Type 1C
Congenital stationary night blindness, Myopia, Reduced visual acuity OMIM:613216
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Central scotoma, Nyctalopia, Retinal ... OMIM:617547
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Myopia, Pancytopenia, Retinal dystrophy, Aplastic anemia, Pancreatic stea... OMIM:617052
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Diplopia, Reduced visual acuity, Ol... ORPHA:91351
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Blue irides, Reduced visual acuity,... ORPHA:79432
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... ORPHA:86839
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Knobloch Syndrome
Retinal detachment, Myopia, Cataract, Ectopia lentis, Visual loss, Abnormal vitreous humor morpho... ORPHA:1571
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus, Lymphoma, Neoplasm of the skin OMIM:254400
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn... OMIM:602499
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, ... OMIM:600118
Otospondylomegaepiphyseal Dysplasia
Retinal detachment, Cataract, Mild myopia, Hypermetropia, High myopia, Degenerative vitreoretinop... ORPHA:1427
Glioblastoma
Glioblastoma multiforme, Seizure, Paralysis ORPHA:360
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Incontinentia Pigmenti
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Supernumerary n... ORPHA:464
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Osteochondroma, Generalized lymphadenopathy, B-cell lymphoma, Burkitt lymphoma OMIM:620232
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Reduc... ORPHA:79098
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem... ORPHA:486
Myopia 22, Autosomal Dominant
Reduced visual acuity, High myopia OMIM:615420
Oculocutaneous Albinism, Type Viii
Photophobia, Hypoplasia of the fovea, Chorioretinal hypopigmentation, Reduced visual acuity OMIM:619165
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Neuroocular Syndrome
Hypoplasia of the fovea, Myopia, Cataract, Remnants of the hyaloid vascular system, Amblyopia, Br... OMIM:619539
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Wolfram Syndrome 1
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy OMIM:222300
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Localized neuroblastoma, Abnormality of ... ORPHA:2505
Prolactinoma
Bitemporal hemianopia, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in m... ORPHA:2965
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, A... ORPHA:290
Myopia 23, Autosomal Recessive
Reduced visual acuity, Visual impairment, High myopia OMIM:615431
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Polyembryoma
Neoplasm of head and neck, Isosexual precocious puberty, Irregular menstruation, Gonadal neoplasm... ORPHA:180229
Corneal Dystrophy, Epithelial Basement Membrane
Reduced visual acuity OMIM:121820
Ataxia-Pancytopenia Syndrome
Pancytopenia, Decreased nerve conduction velocity, Thrombocytopenia, Acute myelomonocytic leukemi... OMIM:159550
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Congenit... ORPHA:8
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Recurrent skin infections, Pustule, Squamous cell carcinom... ORPHA:678
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,... ORPHA:50
Night Blindness, Congenital Stationary, Type 2A
Congenital stationary night blindness, Reduced visual acuity, Visual impairment OMIM:300071
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopenia, A... OMIM:619151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Myopia, Cataract, Optic atrophy, Hypermetropia, Retinal dysplasia, Microphtha... OMIM:253800
Baller-Gerold Syndrome
Lymphoma, Osteosarcoma ORPHA:1225
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Retinitis Pigmentosa 89
Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Hyperautofluorescent retin... OMIM:618955
Terminal Osseous Dysplasia
Fibroma, Cleft palate OMIM:300244
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Photophobia, Basal cell carcinoma, Squamous cell carcin... ORPHA:79431
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias OMIM:605724
Cln3 Disease
Blindness, Cataract, Bull's eye maculopathy, Amblyopia, Vacuolated lymphocytes, Optic atrophy, In... ORPHA:228346
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Musk, Inability To Smell
Blindness OMIM:254150
Usher Syndrome Type 1
Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia ORPHA:231169
Smith-Magenis Syndrome
Retinal detachment, Myopia, Precocious puberty, Microcornea, Delayed puberty, Hypothyroidism ORPHA:819
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Amblyopia, Blue irides, Reduced visual acuity, Depigmented fundus, Photo... ORPHA:352731
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Decreased sensory nerve conduction velocity, B... OMIM:609033
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Cataract, Optic atrophy OMIM:619833
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Trisomy 13
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Cryptorchidism, Optic atrophy, Apla... ORPHA:3378
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration OMIM:615249
Diamond-Blackfan Anemia 1
Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ... OMIM:105650
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Retinal detachment OMIM:182290
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Moderately reduced visual acuity, Retinal coloboma, Chorioretinal coloboma, Severely reduced visu... ORPHA:2921
Sandhoff Disease
Cherry red spot of the macula, Blindness ORPHA:796
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Chromomycosis
Multiple cutaneous malignancies, Squamous cell carcinoma ORPHA:182
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Diplopia, Primary amenorrhea, Se... OMIM:157640
Stiff Skin Syndrome
Retinal detachment, Type II diabetes mellitus ORPHA:2833
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Cryptococcosis
Blindness, Lymphoid leukemia, Abnormal retinal morphology, Vitritis, Abnormality of vision, Neopl... ORPHA:1546
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Nathalie Syndrome
Cataract OMIM:255990
Temtamy Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:1777
Otodental Syndrome
Cataract, Lens coloboma, Odontoma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2791
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, Hypogonadism, Annular pancreas, Os... OMIM:268400
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Aica-Ribosiduria
Congenital blindness, Fused labia minora, Clitoral hypertrophy ORPHA:250977
Kniest Dysplasia
Retinal detachment, Myopia, Cataract OMIM:156550
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplasia, Hematologi... ORPHA:98849
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Myelodysplasia, Portal hypertension, Anemia, Squamous cell carcinoma of the skin, Lymphopenia, Th... OMIM:620365
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Supernumerary nipple, Retina... OMIM:308300
Lig4 Syndrome
Pancytopenia, Myelodysplasia, Cryptorchidism, Acute lymphoblastic leukemia, Astigmatism, Type II ... OMIM:606593
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Visual loss, Corneal erosion, Corneal scarring, High myopi... ORPHA:90354
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma OMIM:613951
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Retinal detachment, Myopia ORPHA:3218
Bazex Syndrome
Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Band keratopathy, Phthisis bulbi, Chorioretinal atrophy, D... OMIM:267750
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Blindness, Optic atrophy ORPHA:216873
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... OMIM:613254
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Retinal detachment, Rieger anomaly, Myopia, Primary congenital glaucoma, Congenital hypothyroidis... ORPHA:521445
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Leukoencephalopathy With Vanishing White Matter 1
Blindness, Premature ovarian insufficiency, Decreased circulating progesterone, Primary amenorrhe... OMIM:603896
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Hypokalemic Periodic Paralysis
Respiratory paralysis, Periodic hypokalemic paresis, Adrenocortical adenoma, Paralysis ORPHA:681
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Optic atrophy, Developm... OMIM:615663
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Anemia, Microphthalmia, Visual impairment, Thrombocytopenia ORPHA:858
Cataract 47
Microcornea, Cataract OMIM:612018
Bloom Syndrome
Acute myeloid leukemia, Malignant genitourinary tract tumor, Male infertility, Premature ovarian ... ORPHA:125
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cerebral visual impairment, C... ORPHA:2510
Spondyloocular Syndrome
Retinal detachment, Cataract, Unilateral cryptorchidism, Amblyopia, Posterior subcapsular catarac... OMIM:605822
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Myelodysplasia, Cryptorchidism, Reduced visual acuity, Micropenis, Leukemia OMIM:619951
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Cataract OMIM:614307
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract OMIM:613763
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... OMIM:157170
Dubowitz Syndrome
Hypospadias, Aplastic anemia, Cryptorchidism, Lymphoma, Hypermetropia, Acute lymphoblastic leukem... OMIM:223370
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Retinal detachment OMIM:609616
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Rabin-Pappas Syndrome
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620155
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Myopia, Abnormal retinal vascular morphology, Nyctalopia, He... ORPHA:1390
Canavan Disease
Abnormality of retinal pigmentation, Blindness, Optic atrophy, Visual impairment ORPHA:141
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Refsum Disease
Abnormality of retinal pigmentation, Cataract, Splenomegaly, Nyctalopia, Abnormality of vision, P... ORPHA:773
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:180295
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot... ORPHA:370091
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Blindness, Abnormality of macular pigmentation ORPHA:1573
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Ocular albinism, Reduced visual acu... ORPHA:79435
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Squamous cell carcinoma OMIM:226600
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria, Capillary hemangioma, Displacement of the urethral meatus, Hypoth... ORPHA:1556
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Small scrotum, Hypospadias, Cryptorchidism, Micropenis OMIM:607143
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Fanconi Anemia, Complementation Group N
Nephroblastoma, Medulloblastoma, Neuroblastoma OMIM:610832
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Cataract, Hypospadias, Pancytopeni... OMIM:305000
Spinocerebellar Ataxia, Autosomal Recessive 3
Blindness OMIM:271250
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Neurofibroma, Plexiform neurofibroma, Lisch nodules, S... OMIM:162210
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Myopia, Cryptorchidism OMIM:613224
Biemond Syndrome Type 2
Microphthalmia, Coloboma ORPHA:141333
Thymoma
Aplastic anemia, Neoplasm of head and neck, Pure red cell aplasia, Imbalanced hemoglobin synthesi... ORPHA:99867
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Myopia, Corneal opacity, Hypospadias, Amblyopia, Cryptorch... ORPHA:464311
Xeroderma Pigmentosum, Complementation Group E
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin OMIM:278740
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Maternally-Inherited Diabetes And Deafness
Retinopathy, Macular dystrophy, Cataract, Abnormal chorioretinal morphology ORPHA:225
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Blindness OMIM:204850
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Mmep Syndrome
Microphthalmia, Cryptorchidism, Visual impairment ORPHA:3434
Lig4 Syndrome
Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphoma, Acute leukemia, Type I... ORPHA:99812
Warburg Micro Syndrome 3
Cataract, Small scrotum, Cerebral visual impairment, Hypoplastic labia minora, Optic atrophy, Dev... OMIM:614222
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen... OMIM:615986
Marshall Syndrome
Retinal detachment, Myopia, Cataract, Lens luxation, Vitreoretinopathy OMIM:154780
Waldenström Macroglobulinemia
Normocytic anemia, Abnormality of neutrophils, Abnormal retinal vascular morphology, Splenomegaly... ORPHA:33226
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cataract, Optic atrophy, Coloboma OMIM:612379
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... ORPHA:744
Rere-Related Neurodevelopmental Syndrome
Myopia, Hypospadias, Cerebral visual impairment, Cryptorchidism, Optic atrophy, Astigmatism, Chor... ORPHA:494344
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Progressive Non-Fluent Aphasia
Brain neoplasm ORPHA:100070
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Myopia, Ectopia lentis, Amblyo... ORPHA:394
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Myelodysplasia, Myeloid leukemia, Anemia OMIM:614742
Severe Canavan Disease
Blindness, Optic atrophy ORPHA:314911
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Aggressive Systemic Mastocytosis
Pancytopenia, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatospleno... ORPHA:98850
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Horner Syndrome, Congenital
Paralysis OMIM:143000
Congenital Central Hypoventilation Syndrome
Neoplasm of the central nervous system, Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma ORPHA:661
Usher Syndrome
Abnormality of retinal pigmentation, Myopia, Cataract, Blindness, Nyctalopia, Decreased fertility... ORPHA:886
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... ORPHA:1018
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Gapo Syndrome
Keratoconus, Myopia, Dysmenorrhea, Optic atrophy, Oligozoospermia, Hypogonadism, Hemangioma, Visu... ORPHA:2067
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myopia, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Visual loss, Nyct... ORPHA:5
Essential Thrombocythemia
Myelodysplasia, Splenomegaly, Abnormal platelet morphology, Acute leukemia, Amaurosis fugax ORPHA:3318
Fragile X Syndrome
Macroorchidism ORPHA:908
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... OMIM:227650
Xeroderma Pigmentosum, Complementation Group C
Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma OMIM:278720
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:600901
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat... OMIM:612674
Musculocontractural Ehlers-Danlos Syndrome
Retinal detachment, Myopia, Astigmatism, Cryptorchidism ORPHA:2953
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Centrocecal scotoma, Tritanoma... OMIM:125250
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Cach Syndrome
Blindness, Cataract, Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Primar... ORPHA:135
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Blindness, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Abnormal... OMIM:598500
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Reduced sperm moti... OMIM:615434
Monosomy 22
Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo... ORPHA:96123
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract, Abnormality of peripheral nerve conduction ORPHA:48431
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Squamous cell carcinoma OMIM:601675
Atypical Werner Syndrome
Renal neoplasm, Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant d... ORPHA:79474
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Squamous cell carcinoma OMIM:148210
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Cataract, Hypospadias, Cryptorchidism, Embryonal rhabdomyosarcoma, Micropenis, Leu... OMIM:257300
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... OMIM:619824
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Ambiguous ge... OMIM:610644
Hermansky-Pudlak Syndrome
Myopia, Cataract, Menometrorrhagia, Amblyopia, Ocular albinism, Photophobia, Basal cell carcinoma... ORPHA:79430
Phace Association
Optic nerve hypoplasia, Cavernous hemangioma of the face, Optic atrophy, Horner syndrome, Develop... OMIM:606519
Infantile Refsum Disease
Constriction of peripheral visual field, Cataract, Facial palsy, Nyctalopia, Optic atrophy, Rod-c... ORPHA:772
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Knobloch Syndrome 2
Retinal detachment, Anterior cortical cataract, Vitreous floaters, High myopia, Vitreoretinopathy OMIM:618458
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Temtamy Syndrome
Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:218340
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Albinism, Ocular, Type I
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Depigmented fundus, Photophobia OMIM:300500
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Progre... ORPHA:436245
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Immunoneurologic Disorder, X-Linked
Nyctalopia OMIM:300076
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Abnormal... ORPHA:79303
Behr Syndrome
Blindness, Optic atrophy, Hypoplastic optic chiasm, Progressive visual loss, Visual impairment OMIM:210000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Cataract 48
Reduced visual acuity, Amblyopia OMIM:618415
Retinitis Pigmentosa And Erythrocytic Microcytosis
Myopia, Optic disc pallor, Ring scotoma, Retinal atrophy, Retinal pigment epithelial atrophy, Epi... OMIM:616959
Isolated Atp Synthase Deficiency
Blindness, Cataract, Optic atrophy, Hypogonadism, Rod-cone dystrophy, Hypothyroidism ORPHA:254913
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract ORPHA:3173
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Iris coloboma, Dec... ORPHA:85284
Ataxia-Telangiectasia
Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Lymphoma, Hodgkin lymphoma, ... OMIM:208900
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Large central visual field defect, Blindness, Visual loss, Pigmentary retinopa... ORPHA:79264
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Spondyloepiphyseal Dysplasia Congenita
Retinal detachment, Myopia, Vitreoretinopathy OMIM:183900
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea ORPHA:2611
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Pilomatrixoma
Pruritus, Pilomatrixoma, Neoplasm of head and neck ORPHA:91414
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Cataract, Coloboma, Microphthalmia OMIM:136760
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract, Retinal pigment epithelial mottling OMIM:614105
Corneal Dystrophy, Meesmann, 1
Photophobia, Reduced visual acuity OMIM:122100
Peroxisome Biogenesis Disorder 9B
Constriction of peripheral visual field, Cataract, Nyctalopia, Reduced visual acuity, Rod-cone dy... OMIM:614879
Down Syndrome
Myopia, Cataract, Aganglionic megacolon, Decreased fertility, Type II diabetes mellitus, Hypothyr... ORPHA:870
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... ORPHA:201
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Mohr-Tranebjaerg Syndrome
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Reduced visual acuit... OMIM:304700
Rothmund-Thomson Syndrome
Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of the skin, Le... ORPHA:2909
Stickler Syndrome, Type Iv
Astigmatism, Degenerative vitreoretinopathy OMIM:614134
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma ORPHA:1553
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Blindness, Elevated circulating growth hormone concentratio... OMIM:174800
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Cataract, Rhabdomyosarcoma, Medulloblastoma,... ORPHA:77301
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor, Myopia, Visual impairment OMIM:300887
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Multiple lipom... ORPHA:2399
Warburg Micro Syndrome 2
Cataract, Small scrotum, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Hypo... OMIM:614225
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma ORPHA:2328
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Retinal detachment, Myopia, Hypermetropia, Microcornea, Abnormality of the brachial nerve plexus ORPHA:1900
Kapur-Toriello Syndrome
Cataract, Cryptorchidism, Hypoplastic labia majora, Retinal coloboma, Microphthalmia, Micropenis,... OMIM:244300
X-Linked Intellectual Disability, Najm Type
Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:227645
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Blindness OMIM:614514
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Myeloid leukemia, Neuroendocrine neoplasm ORPHA:404443
Alpers-Huttenlocher Syndrome
Abnormality of vision, Blindness ORPHA:726
Proximal Myotonic Myopathy
Cataract ORPHA:606
Aniridia 3
Aniridia, Cataract OMIM:617142
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B... OMIM:616005
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Optic atrophy, Retinal dysplasia ORPHA:272
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Optic atrophy, Unilateral microphthalmos OMIM:615085
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Seizure, Tetraparesis ORPHA:140989
Zygomycosis
Retinal detachment, Brain abscess, Diabetes mellitus, Hematological neoplasm, Visual loss, Diplop... ORPHA:73263
Bloom Syndrome
Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Lymphoma, Squamous cell ... OMIM:210900
Trichothiodystrophy 3, Photosensitive
Cataract, Bilateral cryptorchidism, Developmental cataract, Neoplasm of the skin, Neutropenia, Mi... OMIM:616395
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma OMIM:618913
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Coloboma, Microphthalmia, Conjunctival hyperemia, Hamartoma OMIM:167730
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Blindness, Visual loss, Optic atrophy, Progressive visual loss, Visual impairment OMIM:601338
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism OMIM:612285
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Retinopathy, Neoplasm of the breast ORPHA:618
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula... OMIM:602450
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
X-Linked Immunoneurologic Disorder
Nyctalopia ORPHA:2571
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... OMIM:259720
Alstrom Syndrome
Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Hypergonadotropic hy... OMIM:203800
Microphthalmia, Lenz Type
Cataract, Hypospadias, Cryptorchidism, Optic disc coloboma, Microcornea, Chorioretinal coloboma, ... ORPHA:568
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblasti... ORPHA:1052
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Corneal Dystrophy And Perceptive Deafness
Reduced visual acuity OMIM:217400
Multiple Endocrine Neoplasia Type 4
Angiofibromas, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary prolac... ORPHA:276152
Pierpont Syndrome
Microcornea, Cryptorchidism, Microphthalmia ORPHA:487825
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Sarcosinemia
Congenital blindness, Optic atrophy ORPHA:3129
Adams-Oliver Syndrome 2
Microphthalmia, Optic atrophy, Developmental cataract OMIM:614219
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retinal detachment, Abnormal optic chiasm morphology, Cataract, Hypospadias, Decreased response t... ORPHA:268261
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, Blindness, Progressive visual field defects ORPHA:79263
Alg12-Cdg
Retinal detachment, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, B ... ORPHA:79324
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,... ORPHA:562
Variegate Porphyria
Paralysis OMIM:176200
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Diplopia, Optic atrophy, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Ret... ORPHA:220295
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:44
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Cataract OMIM:619780
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... OMIM:268315
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Optic atrophy, Coloboma, Rod-cone dystrophy ORPHA:324737
Bardet-Biedl Syndrome 1
Decreased testicular size, Myopia, Bone spicule pigmentation of the retina, Cataract, Retinal dys... OMIM:209900
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Cryptorchidism, High myopia, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... OMIM:162200
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Cleft palate ORPHA:33001
Refsum Disease, Classic
Nyctalopia, Rod-cone dystrophy, Retinal degeneration, Cataract OMIM:266500
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Breast carcinoma, Macroor... ORPHA:90790
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Cohen Syndrome
Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,... OMIM:216550
Tsh-Secreting Pituitary Adenoma
Bitemporal hemianopia, Abnormal visual field test, Elevated circulating thyroid-stimulating hormo... ORPHA:91347
Medulloblastoma
Medulloblastoma, Spinal cord tumor, Neoplasm of the lung, Neuroblastoma, Cerebellar medulloblastoma ORPHA:616
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia OMIM:617306
Pierpont Syndrome
Microcornea, Cryptorchidism, Micropenis, Microphthalmia OMIM:602342
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy OMIM:616538
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ab... ORPHA:1359
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... OMIM:605373
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Benign Schwannoma
Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannoma, Abnormality of the ... ORPHA:252164
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Sclerocorne... OMIM:206900
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Central hypothyroidism, Lymphocytosis, Hypochromic anemia... ORPHA:514
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Microphthalmia, Iris coloboma ORPHA:3301
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Myelodysplasia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular... OMIM:127550
Bardet-Biedl Syndrome 20
Papilledema, Constriction of peripheral visual field, Bilateral cryptorchidism, Nyctalopia, Hyper... OMIM:619471
Spondyloepiphyseal Dysplasia Congenita
Retinal detachment, Myopia ORPHA:94068
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Blindness, Abnormal mitochondrial shape, Cataract, Central scotoma, Optic atrophy, Ambiguous geni... ORPHA:543470
Adrenoleukodystrophy
Blindness, Visual loss, Primary adrenal insufficiency, Impotence, Hypogonadism OMIM:300100
Marfan Syndrome
Retinal detachment, Myopia, Flat cornea, Lens luxation, Ectopia lentis, Increased axial length of... ORPHA:558
Pellagra-Like Syndrome
Cataract OMIM:260650
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Baraitser-Winter Syndrome 1
Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Micropenis, Iris coloboma OMIM:243310
Seckel Syndrome 10
Retinal detachment, Diabetes mellitus, Elevated hemoglobin A1c, Elevated circulating luteinizing ... OMIM:617253
Krabbe Disease
Decreased nerve conduction velocity, Blindness, Optic atrophy, Autoimmune thrombocytopenia OMIM:245200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Retinal detachment, Myopia, Blindness, Microcornea OMIM:225400
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Amblyopia, Visceral angiomatosis, Hypothyroidism,... ORPHA:42775
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Blindness, Visual loss, Reduced visual acuity, Astigmatism, Retinal degeneration ORPHA:168491
Chime Syndrome
Corneal opacity, Retinal coloboma, Acute leukemia ORPHA:3474
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration, Cataract, Tortuosity of conjunctival vessels ORPHA:284289
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Astigmatism, Retinal coloboma, Cataract OMIM:618571
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentia... OMIM:619260
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Myeloproliferative disorder ORPHA:100924
Vitamin K Antagonist Embryofetopathy
Aplasia/Hypoplasia affecting the eye, Optic atrophy, Cataract ORPHA:1914
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Annular pancreas,... OMIM:227646
Pyoderma Gangrenosum
Myeloid leukemia, Myelodysplasia ORPHA:48104
Methanol Poisoning
Blindness, Type II diabetes mellitus, Type I diabetes mellitus, Visual impairment, Blurred vision ORPHA:31825
Tuberous Sclerosis 1
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino... OMIM:191100
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphocytosis, Myeloproliferative disorder ORPHA:79456
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Squamous cell carcinoma ORPHA:89842
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... ORPHA:65285
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Cataract, Developmental cataract OMIM:610756
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Sever... OMIM:102700
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Chronic lymphatic leukemia ORPHA:90033
Hsd10 Disease, Infantile Type
Blindness, Visual loss, Optic atrophy, Rod-cone dystrophy, Retinal degeneration ORPHA:391428
Fuchs Endothelial Corneal Dystrophy
Visual loss, Nyctalopia, Reduced visual acuity ORPHA:98974
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, M... OMIM:272750
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Coloboma, Microphthalmia, Peters anomaly OMIM:618652
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia OMIM:618727
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Cataract, Visual loss, Nyctalopia, Pigmentary retinopath... ORPHA:88628
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor... OMIM:243605
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Visual field ... ORPHA:71493
Herpes Simplex Virus Stromal Keratitis
Blindness, Reduced visual acuity ORPHA:137599
Mitochondrial Complex I Deficiency, Nuclear Type 4
Blindness OMIM:618225
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Bicornuate uterus, Microphthalmia OMIM:615524
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Blindness, Facial palsy, Optic atrophy, Visual impairment, Anemia ORPHA:53
Hereditary Acrokeratotic Poikiloderma
Transitional cell carcinoma of the bladder, Squamous cell carcinoma ORPHA:2907
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Blindness, Hypospadias OMIM:601499
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Blindness, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Blue Rubber Bleb Nevus
Hemangioma, Cerebellar medulloblastoma OMIM:112200
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Blindness, Reduced visual acuity ORPHA:3208
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb
Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neurofibrosarcoma, Subcutaneous neurofibroma... OMIM:613675
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Parathyro... ORPHA:99880
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis OMIM:300857
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract ORPHA:93267
Juvenile Xanthogranuloma
Visual loss, Myeloproliferative disorder, Iritis, Asymmetry of iris pigmentation ORPHA:158000
Congenital Microcoria
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision ORPHA:566
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Blindness, Hypoplasia of penis, External genital hypoplasia, Amblyopia, Cryptorchidism, Visual lo... ORPHA:2250
Microphthalmia-Brain Atrophy Syndrome
Blindness ORPHA:77299
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Blindness OMIM:250940
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma ORPHA:1791
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Microphthalmia, Micropenis OMIM:614230
Dubowitz Syndrome
Hypoparathyroidism, Myopia, Cataract, Hypospadias, Abnormality of neutrophils, Cryptorchidism, Th... ORPHA:235
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Epispadias, Vitritis, Retinal dysplasia, Abn... ORPHA:2556
Pineoblastoma
Retinoblastoma, Seizure, Pinealoma, Paralysis ORPHA:251909
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Microphthalmia OMIM:615877
Congenital Factor Xiii Deficiency
Myeloid leukemia, Menorrhagia ORPHA:331
Trichothiodystrophy
Squamous cell carcinoma ORPHA:33364
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Cysticercosis
Retinal detachment, Abnormal optic chiasm morphology, Diplopia, Chorioretinitis ORPHA:1560
Joubert Syndrome With Oculorenal Defect
Blindness, Aganglionic megacolon, Retinal dystrophy, Chorioretinal coloboma, Abnormality of the h... ORPHA:2318
Usher Syndrome Type 2
Myopia, Scotoma, Visual loss, Nyctalopia, Hemianopia ORPHA:231178
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Uterine l... ORPHA:143
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Retinal detachment, Myopia, Cryptorchidism, Microcornea, Astigmatism, Abnormal anterior chamber m... OMIM:601776
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Visual loss, Microp... ORPHA:77298
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Albinism, Oculocutaneous, Type Vii
Photophobia, High hypermetropia, Reduced visual acuity OMIM:615179
Meningioma
Bitemporal hemianopia, Decreased circulating cortisol level, Neoplasm of the anterior pituitary, ... ORPHA:2495
Stickler Syndrome
Retinal detachment, Myopia, Cataract, Blindness, Ectopia lentis, Abnormal vitreous humor morpholo... ORPHA:828
Webb-Dattani Syndrome
Blindness, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, ... OMIM:615926
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Marfan Syndrome
Retinal detachment, Myopia, Cataract, Ectopia lentis, Microspherophakia, Increased axial length o... OMIM:154700
Canavan Disease
Blindness, Optic atrophy, Visual impairment OMIM:271900
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Ovotestis, High myopia, Hypoplasia of the uterus, Pigmentary... OMIM:309801
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Nyctalopia, Diabetes mellitus, Visual impairment ORPHA:96
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia ORPHA:1806
Encephalocraniocutaneous Lipomatosis
Astrocytoma, Sclerocornea, Limbal dermoid, Cryptorchidism, Hypoplasia of the iris, Lipoma, Microp... OMIM:613001
Cinca Syndrome
Blindness, Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Splenomegaly, Ab... ORPHA:1451
Fanconi Anemia, Complementation Group S
Breast carcinoma, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia, Anemia OMIM:617883
Dyskeratosis Congenita, Digenic
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Anemia OMIM:620040
Asbestos Intoxication
Malignant mesothelioma, Lung adenocarcinoma ORPHA:2302
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Vocal cord paralysis, Neoplasm of the lung, Malignant neoplasm o... ORPHA:142
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Nyctalopia, Optic atrophy ORPHA:99947
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Platelet Disorder, Undefined
Neuroblastoma, Hematological neoplasm OMIM:173420
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Abnormality of the menstrual cycle, Keratitis, ... ORPHA:906
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Myopia, Cryptorchidism, Optic atrop... ORPHA:193
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Retinoblastoma, Mic... OMIM:613884
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Normocytic anemia, Hypopituitarism, Diabetes mellitus, Aplastic anemia, D... ORPHA:811
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Very low visual acuity, Corneal opacity, Chorioretinal degeneration,... ORPHA:98973
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Blindness, Visual loss, Reduced visual acuity, Abnormal fundus morpholog... ORPHA:94147
Joubert Syndrome 6
Blindness, Retinal degeneration, Bile duct proliferation, Chorioretinal coloboma OMIM:610688
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Microphthalmia, Papilledema, Developmental cataract OMIM:127000
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Optic atrophy OMIM:234050
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr... ORPHA:3243
Pantothenate Kinase-Associated Neurodegeneration
Blindness, Bull's eye maculopathy, Acanthocytosis, Nyctalopia, Optic atrophy, Peripheral visual f... ORPHA:157850
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Myopia, Corneal dystrophy, Nyctalopia, High myopia, Rod-cone dystrophy, Hypothyroidism OMIM:617763
Microcephaly 20, Primary, Autosomal Recessive
Blindness, Optic nerve hypoplasia, Hypoplasia of the uterus, Microphthalmia, Vaginal atresia OMIM:617914
Baraitser-Winter Syndrome 2
Microphthalmia, Coloboma OMIM:614583
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Myopia, Anophthalmia, Corneal dystrophy, Cryptorchidism, Abnormal vitreous humor morphology, Abno... ORPHA:1101
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract, Retinal dystrophy ORPHA:370997
Spondyloepiphyseal Dysplasia Tarda
Retinal detachment ORPHA:93284
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Jacobsen Syndrome
Hypospadias, Amblyopia, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hypoplasia, Macular ... OMIM:147791
Multiple Epiphyseal Dysplasia, Beighton Type
Retinal thinning, Myopia, Cataract, Asteroid hyalosis ORPHA:166011
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Cataract, Medulloblastoma, Hama... OMIM:109400
Trisomy 20P
Macroorchidism, Cryptorchidism, Hypospadias ORPHA:261318
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Osteochondroma OMIM:610474
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias OMIM:618874
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cryptorchidism, Nyctalopia, Visual field defect, Rod-cone dy... ORPHA:166035
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Photophobia, Keratoconjunctivitis sicca, Melanoma, Conjunctivitis, Microphth... OMIM:278730
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Pigmentary retinopathy, Blindness OMIM:560000
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Blindness, Cataract, Optic atrophy, High myopia OMIM:220500
Noonan Syndrome 2
Cryptorchidism, Leukemia OMIM:605275
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Blindness, Hemolytic anemia, Retinal dystrophy, Reticulocytosis ORPHA:713
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Blindness, Cerulean catarac... ORPHA:67036
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Blindness OMIM:618731
Xeroderma Pigmentosum, Complementation Group A
Melanoma, Squamous cell carcinoma of the skin OMIM:278700
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin... OMIM:259770
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Cerebrooculonasal Syndrome
Hypoplasia of penis, Blindness ORPHA:66625
Fanconi Anemia, Complementation Group I
Myopia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Astigmatis... OMIM:609053
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Steinfeld Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma OMIM:184705
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated prop... ORPHA:3261
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Cowden Syndrome 6
Colonic diverticula, Fibroadenoma of the breast, Breast carcinoma, Furrowed tongue, Hamartomatous... OMIM:615109
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Medulloblastoma ORPHA:199276
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Blindness OMIM:236270
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Acute lymphoblastic leukemia, Hydrocele testis, Retinal coloboma, Hypoplastic nipples, Chorioreti... OMIM:280000
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism, Chorioretinal coloboma OMIM:619135
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism, Cataract OMIM:214150
Aspergillosis
Eosinophilia, Hematological neoplasm, Keratitis, Vitritis, Neutropenia, Visual impairment ORPHA:1163
Linear Nevus Sebaceus Syndrome
Cavernous hemangioma, Abnormality of vision, Adenoma sebaceum, Microphthalmia, Iris coloboma ORPHA:2612
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Cataract 17, Multiple Types
Reduced visual acuity, Amblyopia OMIM:611544
Encephalocraniocutaneous Lipomatosis
Neoplasm of the skeletal system, Paralysis, Rigidity, Visceral angiomatosis, Tetraplegia, Hemipar... ORPHA:2396
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... OMIM:620189
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Kindler Epidermolysis Bullosa
Neoplasm of the urethra, Squamous cell carcinoma ORPHA:2908
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Hypopigmentation of the fundus, Hemolytic anemia, Myopia, Hy... OMIM:175780
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Nyctalopia, Retinal degeneration OMIM:615630
Congenital Bile Acid Synthesis Defect Type 1
Nyctalopia ORPHA:79301
Gm1 Gangliosidosis
Blindness, Corneal opacity, Abnormal retinal vascular morphology, Splenomegaly, Optic atrophy, Re... ORPHA:354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... OMIM:253280
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Nyctalopia, Hepatosplenomegaly, Rena... OMIM:260920
Aica-Ribosuria Due To Atic Deficiency
Congenital blindness, Clitoral hypertrophy, Optic atrophy, Fused labia minora OMIM:608688
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphom... ORPHA:647
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Blindness, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Visual impairment, Fa... OMIM:259700
Myopathy, Tubular Aggregate, 1
Nyctalopia OMIM:160565
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Bilateral microphthalmos, Hypermetropia, Developmental cataract, Retinal calcificati... ORPHA:93325
Joubert Syndrome 35
Nyctalopia, Rod-cone dystrophy, Progressive visual loss OMIM:618161
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Abnormality of per... ORPHA:585
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Joubert Syndrome 14
Coloboma, Microphthalmia, Optic atrophy, Morning glory anomaly OMIM:614424
Solitary Median Maxillary Central Incisor
Microphthalmia, Cyclopia, Anophthalmia, Coloboma OMIM:147250
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Poland Syndrome
Myopia, Diabetes mellitus, Hypospadias, Retinal hamartoma, Cryptorchidism, Acute leukemia, Neopla... ORPHA:2911
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Microphthalmia, Micropenis, De... ORPHA:335
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:2715
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Keratoconus 9
Reduced visual acuity OMIM:617928
Xfe Progeroid Syndrome
Blindness, Premature ovarian insufficiency, Optic atrophy, Corneal scarring, Visual impairment, A... OMIM:610965
Polycythemia Vera
Splenomegaly, Myelodysplasia, Acute leukemia ORPHA:729
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Thrombocytopenia, Persistence of hemoglobin... OMIM:260400
Alpha-N-Acetylgalactosaminidase Deficiency
Blindness ORPHA:3137
Ophthalmomandibulomelic Dysplasia
Blindness ORPHA:2741
Meckel Syndrome
Accessory spleen, Cataract, Abnormal chorioretinal morphology, Pancreatic fibrosis, Sclerocornea,... ORPHA:564
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Blindness, Abnormal erythrocyte enzyme level, Optic at... ORPHA:1187
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Pituitary Apoplexy
Bitemporal hemianopia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... ORPHA:95613
Lead Poisoning
Abnormal sperm morphology, Decreased female libido, Abnormality of the menstrual cycle, Imbalance... ORPHA:330015
Czech Dysplasia
Osteochondroma OMIM:609162
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Oropharyngeal squamous cell carcinoma, Eczema, Esophageal c... ORPHA:391487
Ellis Van Creveld Syndrome
Hypospadias, Cryptorchidism, Epispadias, Acute leukemia, Abnormal morphology of female internal g... ORPHA:289
Rubinstein-Taybi Syndrome 1
Accessory spleen, Cataract, Hypospadias, Premature thelarche, Bilateral cryptorchidism, Cryptorch... OMIM:180849
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Monosomy 13Q14
Microphthalmia, Retinoblastoma, Cataract, Iris coloboma ORPHA:1587
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Congenital Erythropoietic Porphyria
Pruritus, Recurrent bacterial skin infections, Neoplasm of the skin, Squamous cell carcinoma ORPHA:79277
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Aganglionic megacolon, Optic disc coloboma, Microcornea, Colobom... ORPHA:959
Trisomy 18
Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Microcornea, Microphthalmia, Cyclo... ORPHA:3380
Adrenocortical Carcinoma
Adrenocortical carcinoma, Lung adenocarcinoma ORPHA:1501
Myotonic Dystrophy 2
Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Oligozoospermia, Hypog... OMIM:602668
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Focal-onset seizure, Generalized-onset seizure, Status epilepticus, Paralysis ORPHA:83601
Corneal Dystrophy, Posterior Polymorphous, 4
Reduced visual acuity OMIM:618031
Glossopharyngeal Neuralgia
Seizure, Schwannoma, Neoplasm, Vocal cord paralysis ORPHA:221098
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Ophthalmomandibulomelic Dysplasia
Blindness OMIM:164900
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Myopia, Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Abnormal hemoglobin, Bli... ORPHA:847
Late-Infantile/Juvenile Krabbe Disease
Visual loss, Blindness, Visual impairment ORPHA:206443
Cockayne Syndrome
Photophobia, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Retinal atrophy,... ORPHA:191
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Papilloma, Chorioretinal coloboma, Giant... ORPHA:2092
Momo Syndrome
Blindness, Retinal coloboma OMIM:157980
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Macroorchidism, Thyroid hypoplasia, Increased circulating prolactin con... ORPHA:90674
Joubert Syndrome 2
Retinal dystrophy, Optic disc coloboma, Chorioretinal coloboma, Hypoplastic male external genital... OMIM:608091
Severe X-Linked Intellectual Disability, Gustavson Type
Blindness, Optic atrophy ORPHA:3078
Pyruvate Dehydrogenase E1-Alpha Deficiency
Blindness ORPHA:79243
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Microcornea, Retinal coloboma, Ambiguous genitalia, Iris coloboma ORPHA:2839
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Tay-Sachs Disease
Cherry red spot of the macula, Blindness OMIM:272800
Abetalipoproteinemia
Abnormality of retinal pigmentation, Reticulocytosis, Blindness, Scotoma, Acanthocytosis, Nyctalo... ORPHA:14
Holoprosencephaly
Hypoplasia of penis, Diabetes mellitus, Diabetes insipidus, Anophthalmia, Cryptorchidism, Anterio... ORPHA:2162
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79408
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Streak ovary, Aganglionic megacolon, Nephroblastoma, Hypospadias, Ependy... ORPHA:798
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Joubert Syndrome 37
Microphthalmia, Cryptorchidism, Micropenis, Decreased testicular size OMIM:619185
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, B-cell lymphoma, Multiple myeloma, Chronic lymphatic leu... ORPHA:91139
Infantile Neuroaxonal Dystrophy
Blindness, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of peripheral... ORPHA:35069
Momo Syndrome
Abnormality of the thyroid gland, Blindness, Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Frontorhiny
Pericallosal lipoma, Cataract, Microphthalmia, Hypopituitarism, Diabetes insipidus, Iris coloboma ORPHA:391474
Cranioectodermal Dysplasia 4
Nyctalopia, Rod-cone dystrophy, Hypermetropia, Visual impairment OMIM:614378
Noonan Syndrome 1
Male infertility, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Myopia, Hyp... OMIM:163950
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Retinal coloboma, Microphth... OMIM:607323
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Localized neuroblastoma, Microphthalmia, Hypoplastic nipples OMIM:156610
White-Sutton Syndrome
Myopia, Blindness, Optic atrophy, Hypermetropia, Astigmatism, Rod-cone dystrophy, Iris coloboma, ... ORPHA:468678
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Blindness, Primary adrenal insufficiency, Reduced visual ac... ORPHA:139396
Fanconi Anemia
Abnormality of vision, Leukopenia, Neoplasm, Abnormality of the uterus, Abnormality of the hypoth... ORPHA:84
Vacterl With Hydrocephalus
Anophthalmia, Cryptorchidism, Microcornea, Abnormal optic nerve morphology, Abnormal fallopian tu... ORPHA:3412
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Cataract, Splenomegaly, Retinal hemorrhage... ORPHA:90324
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Maternal Uniparental Disomy Of Chromosome 4
Acanthocytosis, Abnormal erythrocyte morphology, Nyctalopia, Optic atrophy, Visual field defect, ... ORPHA:96180
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
Moebius Syndrome
Hypogonadotropic hypogonadism, Facial diplegia, Microphthalmia, Micropenis, Decreased testicular ... OMIM:157900
Severe Generalized Junctional Epidermolysis Bullosa
Squamous cell carcinoma ORPHA:79404
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Stevenson-Carey Syndrome
Microphthalmia, Coloboma OMIM:611961
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Myelodysplasia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... ORPHA:3260
Lowry-Wood Syndrome
Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss OMIM:226960
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Myopia, Cryptorchidism, Bilateral microphthalmos, Hypermetropia, Ocular anterior segment dysgenesis ORPHA:369891
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Hepatosplenomegaly, Juvenile myelomonocytic leukemia, Splenomegaly, Cryptorchidism OMIM:613563
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis ORPHA:43
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Myopia, Cryptorchidism, Hypermetropia, Hemianopia, Microphthalmia ORPHA:404440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Blindness, Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma, Micrope... OMIM:615287
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism, Cerebral visual impairment OMIM:618494
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Hermansky-Pudlak Syndrome 7
Menorrhagia, Reduced visual acuity, Visual impairment OMIM:614076
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... ORPHA:206436
Tarp Syndrome
Extramedullary hematopoiesis ORPHA:2886
Japanese Encephalitis
Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor... ORPHA:79139
Pilomatrixoma
Pilomatrixoma OMIM:132600
Non-Functioning Paraganglioma
Tremor, Paraganglioma of head and neck, Vocal cord paralysis, Paraganglioma ORPHA:94080
Sandhoff Disease
Orthostatic hypotension, Blindness, Hepatosplenomegaly, Impotence, Cherry red spot of the macula OMIM:268800
Cockayne Syndrome B
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Cryptorchidism, Splenom... OMIM:133540
Treacher-Collins Syndrome
Thyroid hypoplasia, Hypoplasia of penis, Cataract, Small scrotum, Cryptorchidism, Multiple enchon... ORPHA:861
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:284160
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Cryptorchidism OMIM:609942
Developmental Malformations-Deafness-Dystonia Syndrome
Blindness ORPHA:79107
Down Syndrome
Aganglionic megacolon, Brushfield spots, Myeloproliferative disorder, Hypothyroidism, Acute megak... OMIM:190685
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Optic disc coloboma, Coloboma, Microphthalmia, Abnormality of the hypothalamus-pi... ORPHA:251014
Mucopolysaccharidosis Type 3
Myopia, Blindness, Cataract, Corneal opacity, Constriction of peripheral visual field, Splenomega... ORPHA:581
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Tetrasomy 9P
Absent gallbladder, Myopia, Abnormal chorioretinal morphology, Amblyopia, Cryptorchidism, Pilomat... ORPHA:3310
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Nijmegen Breakage Syndrome
Lymphoma, Medulloblastoma, Glioma, Rhabdomyosarcoma OMIM:251260
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy, Optic atrophy OMIM:201180
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Hyperparathyroidism, Cataract, Corneal opacity, Ch... ORPHA:534
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,... OMIM:250410
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Panhypogammaglobulinemia, Hypoplasia of the thymus,... ORPHA:84064
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Hallermann-Streiff Syndrome
Cataract, Cryptorchidism, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:234100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Myopia, Hypospadias, Optic nerve hypoplasia, Facial palsy, Amblyopia, Hypermetropia, Coloboma, Ab... ORPHA:508498
Aicardi-Goutières Syndrome
Enchondroma, Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Developmental glaucoma, Chr... ORPHA:51
Cystinosis, Nephropathic
Male infertility, Blindness, Diabetes mellitus, Retinal pigment epithelial mottling, Splenomegaly... OMIM:219800
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... ORPHA:1435
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... ORPHA:363700
Lmna-Related Cardiocutaneous Progeria Syndrome
Papillary renal cell carcinoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmon... ORPHA:363618
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopenia, Hypersplenism, Splenom... ORPHA:77293
Machado-Joseph Disease Type 1
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276238
Machado-Joseph Disease Type 2
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276241
Microphthalmia, Syndromic 6
Myopia, Blindness, Small scrotum, Retinal dystrophy, Female hypogonadism, Sclerocornea, Adrenal h... OMIM:607932
Amyloidosis, Hereditary, Transthyretin-Related
Diplopia, Amyloid deposition in the vitreous humor, High myopia, Impotence, Abnormal autonomic ne... OMIM:105210
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Hypospadias, High hypermetropia, Microcornea, Microphthalmia, Clitoral hypertrophy OMIM:616449
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Cryptorchidism, Small scrotum, Hypogonadism ORPHA:228390
Tolchin-Le Caignec Syndrome
Precocious puberty, Osteochondroma, Cardiac rhabdomyoma OMIM:618971
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Blindness, Optic atrophy ORPHA:95433
Proboscis Lateralis
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic disc coloboma, Microcornea... ORPHA:141099
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Martsolf Syndrome 1
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Developmental cataract, Microphthalmia, ... OMIM:212720
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Ring Chromosome 10 Syndrome
Microphthalmia, Aganglionic megacolon ORPHA:1438
Porphyria, Acute Intermittent
Seizure, Respiratory paralysis, Paralysis OMIM:176000
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... ORPHA:83471
Galloway-Mowat Syndrome 1
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia OMIM:251300
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Hemangioma, Macroorchidism OMIM:619950
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cataract, Hypospadias, Pilomatrixoma, Cryptorchidism, Spinal cord tumor, Coloboma, Neoplasm, Reti... ORPHA:353281
Sotos Syndrome
Sacrococcygeal teratoma, Myopia, Astrocytoma, Cataract, Aganglionic megacolon, Hypospadias, Phimo... ORPHA:821
Tay-Sachs Disease
Blindness, Precocious puberty, Optic atrophy, Hepatosplenomegaly, Cherry red spot of the macula, ... ORPHA:845
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
1Q21.1 Microdeletion Syndrome
Cataract, Cryptorchidism, High hypermetropia, Microphthalmia, Iris coloboma ORPHA:250989
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Mycophenolate Mofetil Embryopathy
Visual loss, Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:268249
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal retinal morphology OMIM:610758
Hallermann-Streiff Syndrome
Myopia, Cryptorchidism, Developmental cataract, Rib exostoses, Microphthalmia, Hypothyroidism, Vi... ORPHA:2108
Granular Corneal Dystrophy Type Ii
Reduced visual acuity, Visual impairment, Blurred vision ORPHA:98963
Hermansky-Pudlak Syndrome 1
Photophobia, Severely reduced visual acuity, Ocular albinism, Blindness OMIM:203300
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Senior-Loken Syndrome 3
Visual loss, Congenital blindness OMIM:606995
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Blindness OMIM:603387
Branchiooculofacial Syndrome
Myopia, Cataract, Hypospadias, Facial palsy, Supernumerary nipple, Anophthalmia, Cryptorchidism, ... OMIM:113620
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Nyctalopia, Optic atrophy, Hypoplasia of... OMIM:619321
Hydrolethalus
Microphthalmia, Cryptorchidism, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Focal Dermal Hypoplasia
Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Optic atrophy, Reduced visual... OMIM:305600
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Cryptorchidism, Small scrotum, Amblyopia ORPHA:2728
Multiple Osteochondromas
Osteochondroma, Chondrosarcoma, Rib exostoses, Scapular exostoses ORPHA:321
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Hypermetropia, Photophobia, Squamous cell carcinoma of the skin, Anemia ORPHA:79396
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Vocal cord paralysis, Adre... ORPHA:276621
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Elevated circulating thyroid-stimulating hormone concentration, Hypermyelinated ... OMIM:601812
X-Linked Dominant Chondrodysplasia Punctata
Microcornea, Microphthalmia, Cataract ORPHA:35173
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Optic atrophy, Coloboma, Peters anomaly, Microphthalmia, Annular pan... OMIM:616975
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abn... ORPHA:2470
Behçet Disease
Blindness, Cataract, Orchitis, Retrobulbar optic neuritis, Splenomegaly, Photophobia, Keratoconju... ORPHA:117
Fetal Alcohol Syndrome
Microphthalmia, Visceral angiomatosis ORPHA:1915
Machado-Joseph Disease Type 3
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276244
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Blindness, Retinal telangiectasia, Optic atrophy, Anemia, Exudative retinopathy, Thrombocytopenia OMIM:612199
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypopla... OMIM:603457
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane OMIM:257850
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor,... ORPHA:29072
Immunodeficiency 9
Hypoplasia of the thymus OMIM:612782
Visual Impairment And Progressive Phthisis Bulbi
Reduced visual acuity, Hypermetropia OMIM:618283
Neuroendocrine Neoplasm Of Appendix
Functional intestinal obstruction, Mechanical ileus, Midgut malrotation, Ovarian neoplasm, Intest... ORPHA:100079
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Erythroid hypoplasia, Thrombocyt... OMIM:612541
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Seizure, Vocal cord paralysis ORPHA:397744
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Edict Syndrome
Reduced visual acuity, Visual impairment OMIM:614303
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Histiocytoid Cardiomyopathy
Corneal opacity, Optic atrophy, Polycystic ovaries, Microphthalmia, Megalocornea, Congenital aphakia ORPHA:137675
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Amblyopia, High hypermetropia, Developmental cataract, Microcornea, Male urethral me... ORPHA:464738
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Bohring-Opitz Syndrome
Nephroblastoma, Medulloblastoma ORPHA:97297
Marden-Walker Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Hypospadias OMIM:248700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Cat Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:115470
Trichorhinophalangeal Syndrome, Type Ii
Osteochondroma, Hemiparesis, Seizure, Osteoma, Rib exostoses, Scapular exostoses, Multiple long-b... OMIM:150230
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Viss Syndrome
Exostosis of the external auditory canal, Retinal detachment, Hypereosinophilia, High myopia, Hyp... OMIM:619472
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Asplenia, Cryptorchidism, Abnormality of the uterus, Abnorm... ORPHA:99776
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Facial palsy, Amblyopia, Optic disc col... OMIM:620186
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Facial palsy, Cryptorchidism, Delayed... ORPHA:138
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Seckel Syndrome 2
Microphthalmia OMIM:606744
Fetal And Neonatal Alloimmune Thrombocytopenia
Blindness ORPHA:853
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Vocal cord paralysis, Seizure, Myoclonus, Spasticity ORPHA:500144
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Amyotrophic Lateral Sclerosis
Spasticity, Paralysis ORPHA:803
Chronic Thromboembolic Pulmonary Hypertension
Neoplasm, Myeloproliferative disorder ORPHA:70591
Isolated Complex I Deficiency
Optic disc pallor, Blindness, Diabetes mellitus, Optic neuropathy ORPHA:2609
Dermatoosteolysis, Kirghizian Type
Nyctalopia ORPHA:1657
Frontofacionasal Dysplasia
Frontal cutaneous lipoma, Cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:229400
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia OMIM:614813
Hydranencephaly
Blindness, Optic nerve hypoplasia, Chorioretinal atrophy, Abnormality of vision, Atrophic pituita... ORPHA:2177
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cryptorchidism, Micropenis, Bicornuate uterus, Microphthalmia, Cyclopia OMIM:264480
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Cryptorchidism, Microphthalmia, Hamartoma of tongue OMIM:616300
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Hypermetropia, Microphthalmia OMIM:619148
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Monosomy 18P
Microphthalmia ORPHA:1598
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Corneal opac... ORPHA:580
Fryns Syndrome
Aganglionic megacolon, Corneal opacity, Hypospadias, Cryptorchidism, Bicornuate uterus, Microphth... ORPHA:2059
Asparagine Synthetase Deficiency
Blindness, Optic nerve hypoplasia, Cerebral visual impairment OMIM:615574
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Mucoepithelial Dysplasia, Hereditary
Blindness, Cataract, Eosinophilia, Keratoconjunctivitis, Photophobia, Opacification of the cornea... OMIM:158310
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:612530
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of t... ORPHA:99889
Weill-Marchesani Syndrome 1
Blindness, Cataract, Ectopia lentis, Microspherophakia, High myopia, Shallow anterior chamber OMIM:277600
Adams-Oliver Syndrome
Microphthalmia, Cataract ORPHA:974
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Constriction of peripheral visual field, Macular atrophy, Splenomegaly, Nyctalo... OMIM:619418
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Dysosteosclerosis
Blindness, Facial paralysis, Optic atrophy OMIM:224300
Roberts Syndrome
Cataract, Cryptorchidism, Thrombocytopenia, Long penis, Midface capillary hemangioma, Microphthal... ORPHA:3103
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epilepticus, Myoclonus, Tetra... OMIM:203700
Weill-Marchesani Syndrome 2
Iridodonesis, Blindness, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, High myopia,... OMIM:608328
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... OMIM:214800
Renpenning Syndrome 1
Blindness, Cataract, Hypospadias, Phimosis, Hypermetropia, Coloboma, Microphthalmia, Decreased te... OMIM:309500
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Cataract, Hypospadias, Rectoperineal fistula, Cryptorchidism,... ORPHA:857
Andersen-Tawil Syndrome
Seizure, Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis ORPHA:37553
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Pallister-Hall Syndrome
Osteochondroma, Thyroid hypoplasia, Adrenal hypoplasia, Midline facial capillary hemangioma, Prec... ORPHA:672
3Q29 Microdeletion Syndrome
Microphthalmia, Cataract ORPHA:65286
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations ORPHA:682
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopenia, Leukopen... OMIM:603467
Tick-Borne Encephalitis
Speech apraxia, Generalized-onset seizure, Incoordination, Paralysis, Tremor, Focal-onset seizure... ORPHA:297
Igg4-Related Dacryoadenitis And Sialadenitis
Blindness, Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Keratoconjunctivi... ORPHA:79078
Inhalational Botulism
Paralysis ORPHA:254504
Holoprosencephaly 9
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Joubert Syndrome 5
Congenital blindness, Rod-cone dystrophy, Retinal coloboma, Reduced visual acuity OMIM:610188
Cogan Syndrome
Photophobia, Blindness, Reduced visual acuity ORPHA:1467
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Corneal opacity, Facial capillary hemangioma ORPHA:364577
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Hypermetropia, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Cataract OMIM:302960
Arima Syndrome
Blindness, Retinal dystrophy, Optic atrophy, Chorioretinal coloboma, Anemia OMIM:243910
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cataract, Aganglionic megacolon, Hyperthyroidism, Hypospadias, Retinal arteri... ORPHA:567
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Blindness, Hepatosplenomegaly ORPHA:79255
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp... ORPHA:217085
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypoplasia of the thymus OMIM:214110
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Blindness, Hypospadias, Optic neuropathy, Splenomegaly OMIM:252010
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp... ORPHA:217093
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microp... ORPHA:2166
Plasminogen Deficiency, Type I
Blindness OMIM:217090
Heart And Brain Malformation Syndrome
Microphthalmia, Visual impairment OMIM:616920
Lymphedema-Distichiasis Syndrome
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions OMIM:153400
Amoebiasis Due To Free-Living Amoebae
Blindness, Facial palsy, Visual loss, Diplopia, Photophobia, Abnormality of the adrenal glands, G... ORPHA:68
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma ORPHA:1236
Aspartylglucosaminuria
Macroorchidism, Vacuolated lymphocytes, Neutropenia OMIM:208400
Blau Syndrome
Cataract, Band keratopathy, Iritis, Cystoid macular edema, Abnormal cranial nerve morphology OMIM:186580
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Thrombocytosis, Impaired neutrophil chemotaxis, Perianal abscess, Leukocy... ORPHA:2968
Poliomyelitis
Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis ORPHA:2912
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Cataract, Severe B lymphocytopenia, Cryptorchidism, Thrombocytopenia, Microphth... OMIM:620005
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Aganglionic megacolon, Hypospadias, Supernumerary nipple, Cryptorchidism... OMIM:235730
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Sclerocornea OMIM:300952
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Micropenis, Hypoplastic labia majora, Poplit... OMIM:263650
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Hamartoma of tongue, Uterus didelphys, Microphthalmia, Microp... OMIM:617925
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Curry-Jones Syndrome
Microphthalmia, Iris coloboma OMIM:601707
Microphthalmia With Limb Anomalies
Microphthalmia, Cryptorchidism, Optic atrophy, True anophthalmia ORPHA:1106
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Mosaic Trisomy 1
Microphthalmia, Micropenis, Penile hypospadias, Opacification of the corneal stroma ORPHA:1692
Corneodermatoosseous Syndrome
Photophobia, Nyctalopia, Hemeralopia ORPHA:3194
Cataract 49
Reduced visual acuity OMIM:619593
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos,... ORPHA:468631
Leprosy
Blindness, Abnormality of the spleen, Abnormality of the seventh cranial nerve, Testicular mass, ... ORPHA:548
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Vocal cord paralysis, Seizure, Hyp... OMIM:617799
Dpagt1-Cdg
Nyctalopia, Optic atrophy, Developmental cataract, Astigmatism, Diffuse optic disc pallor, Rod-co... ORPHA:86309
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Gitelman Syndrome
Seizure, Ataxia, Paralysis OMIM:263800
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Blindness, Cryptorchidism, Bicornuate uterus, Am... ORPHA:2052
Saul-Wilson Syndrome
Nyctalopia, Cataract, Neutropenia OMIM:618150
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Eec Syndrome
Anterior hypopituitarism, Lymphoma, Hypoplasia of the thymus, Decreased response to growth hormon... ORPHA:1896
Fraser Syndrome 1
Blindness, Hypospadias, Cryptorchidism, Abnormal thymus morphology, Bicornuate uterus, Micropenis... OMIM:219000
Mend Syndrome
Microphthalmia, Cryptorchidism, Cataract, Abnormal auditory evoked potentials ORPHA:401973
Gitelman Syndrome
Parathyroid adenoma, Focal-onset seizure, Neoplasm of the pancreas, Paralysis ORPHA:358
Microphthalmia, Syndromic 1
Blindness, Anophthalmia, Aganglionic megacolon, Hypospadias, Cryptorchidism, Optic disc coloboma,... OMIM:309800
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Aganglionic megacolon, Hypospadias, Cryptorchidism, Bic... OMIM:229850
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Cousin Syndrome
Microcornea, Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cataract, Hypospadias, Pilomatrixoma, Cryptorchidism, Corneal scarring, Hypermetropia, Hydrocele ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cataract, Hypospadias, Pilomatrixoma, Cryptorchidism, Corneal scarring, Hypermetropia, Hydrocele ... ORPHA:353277
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis ORPHA:79102
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Cryptorchidism, Sple... OMIM:249000
Igg4-Related Thyroid Disease
Neoplasm, Vocal cord paralysis ORPHA:64744
Aspartylglucosaminuria
Macroorchidism, Splenomegaly ORPHA:93
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Cyclopia, Iris coloboma ORPHA:3186
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Corneal opacity, Hypospadias, Enlarged labia minora, Cryptorchidism, ... OMIM:268300
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Oculodentodigital Dysplasia
Microcornea, Microphthalmia, Cataract OMIM:164200
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Hypoplasia of the thymus, Rectal abscess, Type I diabetes mellitus, ... ORPHA:436252
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Reduced visual acuity, Corneal scarring, Developmental cataract, Microphthalmia, ... OMIM:309000
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Rift Valley Fever
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis ORPHA:319251
Mucopolysaccharidosis, Type Iiid
Nyctalopia, Visual impairment OMIM:252940
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Asplenia, Abnormal pupil morphology, Microcornea, Webbed penis, Micropenis, Iris c... ORPHA:261552
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypoplasia of the ... OMIM:601186
Myhre Syndrome
Microphthalmia, Cryptorchidism, Cataract, Hypermetropia OMIM:139210
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Microphthalmia, ... OMIM:273395
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Optic nerve hypoplasia, Bilateral microphthalmos, Reduced visual acu... ORPHA:508488
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Cavernous hemangioma of the face, Acute myelomonocytic leukemia, Cavernous hemangioma, Developmen... ORPHA:99646
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Antecubital pterygium, Popliteal pterygium, Clitoral ... OMIM:609945
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Pericallosal lipoma, Cataract ORPHA:306542
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Microphthalmia OMIM:616734
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Corneal opacity, Facial capillary hemangioma OMIM:608670
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus OMIM:619879
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bilateral tonic-clonic seizure with generalized onset, Paralysis, Oculomotor apraxia, Spastic par... ORPHA:2072
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Myopia, Cataract, Aganglionic megacolon, Hypospadias, Septate vagina, Asplenia, Cr... ORPHA:261537
Sarcoidosis
Hemolytic anemia, Blindness, Cataract, Hyperthyroidism, Facial palsy, Diabetes insipidus, Eosinop... ORPHA:797
Galloway-Mowat Syndrome 3
Microphthalmia, Visual impairment OMIM:617729
Menke-Hennekam Syndrome 1
Cryptorchidism, Blindness, Hypermetropia OMIM:618332
Mowat-Wilson Syndrome
Bifid scrotum, Myopia, Cataract, Aganglionic megacolon, Hypospadias, Septate vagina, Asplenia, Cr... ORPHA:2152
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Blindness, Symblepharon, Keratitis, Visual loss, Corneal erosion, Phot... ORPHA:95455
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Yunis-Varon Syndrome
Cataract, Hypospadias, Sclerocornea, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia ... ORPHA:3472
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia OMIM:613177
Witteveen-Kolk Syndrome
Cataract, Unilateral cryptorchidism, Decreased response to growth hormone stimulation test, Hypos... OMIM:613406
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:610828
Monosomy 9P
Ambiguous genitalia, Cryptorchidism, Microphthalmia, Hypospadias ORPHA:261112
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, Hepatosplenomegaly, Lymphadenopathy, Neopl... ORPHA:1333
Degcags Syndrome
Pancytopenia, Hypospadias, Congenital hypoplastic anemia, Cryptorchidism, Hepatosplenomegaly, Leu... OMIM:619488
Fanconi Anemia, Complementation Group L
Anemia, Microphthalmia, Micropenis, Aplasia of the uterus OMIM:614083
Digeorge Syndrome
Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyroid hormone level, ... OMIM:188400
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Hepatoerythropoietic Porphyria
Hemolytic anemia, Blindness, Splenomegaly, Keratoconjunctivitis, Erythroid hyperplasia, Corneal u... ORPHA:95159
Fontaine Progeroid Syndrome
Absent nipple, Small scrotum, Cryptorchidism, Hypermetropia, Hypoplastic labia majora, Hypoplasti... OMIM:612289
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Abnormality of the spleen, Perineal fistula, Rectovaginal fistula, Microphthalmia ORPHA:2538
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Neu-Laxova Syndrome 1
Cataract, Bifid uterus, Cryptorchidism, Microphthalmia, Pterygium OMIM:256520
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
African Trypanosomiasis
Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Hemiparesis, Seizure, ... ORPHA:3385
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract OMIM:612474
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Isolated Arrhinia
Microphthalmia ORPHA:1134
Holoprosencephaly 1
Microphthalmia, Cyclopia OMIM:236100
Treacher Collins Syndrome 1
Visual loss, Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology OMIM:154500
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level OMIM:264090
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal v... OMIM:236680
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Craniofacial Microsomia 1
Limbal dermoid, Microphthalmia, Anophthalmia, Amblyopia OMIM:164210

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.

Phenotype Allele Zygosity Sex Life Stage
Thymus - MPATH diagnostic term cyst Cdkn2atm1a(EUCOMM)Wtsi HOM Early adult
Testes - process of degenerative change Cdkn2atm1a(EUCOMM)Wtsi HOM Early adult
Eye with optic nerve - developmental and structural abnormality Cdkn2atm1a(EUCOMM)Wtsi HOM Early adult
Thymus - developmental and structural abnormality Cdkn2atm1a(EUCOMM)Wtsi HOM Early adult

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 Cdkn2a.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cdkn2aipnltm1b(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Cdkn2aipnltm1b(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cdkn2atm1a(EUCOMM)Wtsi Cdkn2aipnltm1b(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cdkn2atm1a(EUCOMM)Wtsi Cdkn2aipnltm1b(KOMP)Wts PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Cdkn2aipnltm1b(KOMP)Wtsi PMC5827107

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

MGI Allele Allele Type Produced
Cdkn2atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cdkn2atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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