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Gene: Mcph1 MGI:2443308

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Gene Summary

Name:
microcephaly, primary autosomal recessive 1
Synonyms:
D030046N04Rik,  5430437K10Rik,  BRIT1

Order Alleles

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.

Select physiological systems to view:
Viewing: all phenotypes
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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 50% (1 of 2)
Brain N/A heterozygote 100% (2 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 Not available
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 0.0% (0 of 2)
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 50% (1 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 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
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 100% (2 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

54 Images

View images
Legacy Phenotype Associated Images
Mcph1tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Mcph1tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Mcph1tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Mcph1tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Mcph1tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI

View all 236 images

Mcph1tm1a(EUCOMM)Wtsi
eye, corneal opacity, cornea/lens fusion, HOM, Female, WTSI
Mcph1tm1a(EUCOMM)Wtsi
eye, cornea/lens fusion, corneal opacity, HOM, Female, WTSI
Mcph1tm1a(EUCOMM)Wtsi
eye, persistence of hyaloid vascular system, HOM, Female, WTSI
Mcph1tm1a(EUCOMM)Wtsi
eye, cornea/lens fusion, corneal vascularization, corneal opacity, HOM, Female, WTSI
Mcph1tm1a(EUCOMM)Wtsi
eye, corneal vascularization, corneal opacity, cornea/lens fusion, corneal ulcer, HOM, Female, WTSI

View all 11 images

Mcph1tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Mcph1tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Mcph1tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Mcph1tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Mcph1 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 Mcph1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microcephaly 1, Primary, Autosomal Recessive
Small cerebral cortex, Primary microcephaly OMIM:251200
Autosomal Recessive Primary Microcephaly
Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c... ORPHA:2512

The table below shows human diseases predicted to be associated to Mcph1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
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
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
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 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
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract, Infertility, Hearing impairment OMIM:300719
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Abnormal antihelix morphology, Chorioretinal coloboma, Hearing impairment OMIM:274205
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
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
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
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 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spastic Paraparesis And Deafness
Tremor, Cataract, Hypogonadism, Hearing impairment OMIM:312910
Galactosialidosis
Cherry red spot of the macula, Corneal opacity, Hearing impairment ORPHA:351
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Winchester Syndrome
Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis, Corneal opacity OMIM:277950
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
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 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 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Cataract, Microcephaly, Subcortical band heterotopia, Thick corpus callosum, Pachygyria, ... OMIM:615412
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
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
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
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 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcephaly, Microcornea, Hypogonadism, Microphthalmia ORPHA:2528
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Cataract ORPHA:73245
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Xeroderma Pigmentosum, Complementation Group D
Cataract, Microcephaly, Keratitis, Sensorineural hearing impairment, Defective DNA repair after u... OMIM:278730
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microcephaly, Tremor, Defective DNA repair after ultraviolet radiation damage, Micropht... OMIM:278780
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Optic disc pallor, Retinal detachment, Cataract, Abnormality of retinal pigmentation, Chorioretin... OMIM:251270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Microcephaly, Hypoplasia of the pons, Partial agene... OMIM:616171
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou... ORPHA:90654
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, C... ORPHA:1473
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, External genital hypoplasia, Microcephaly, Cryptorchidism, Perisylv... OMIM:600118
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Corneal opacity, Thrombocytopenia, Microcephaly ORPHA:1980
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Cerebral calcification, Microcephaly, Sensorineura... ORPHA:1466
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Cerebellar agenesis ORPHA:1397
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Hypogonadotropic hypogonadism, Osteoporosis, Microcornea, Microphthalmia, Cerebral cort... ORPHA:48431
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Tremor, Optic atrophy, Hearing impairment OMIM:165300
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Spermatogenic Failure 17
Male infertility OMIM:617214
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Fanconi Anemia, Complementation Group O
Chromosome breakage, Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, ... OMIM:613390
Mucolipidosis Iv
Corneal opacity, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Optic atrophy... OMIM:252650
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Cataract, Hypogonadism ORPHA:2815
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Retinal detachment, Corneal opacity, Isosexual precocious puberty, Osteoporosis, Abno... ORPHA:2788
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
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 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cerebellar vermis hypoplasia, Cataract, Fundus atrophy, Absent fo... OMIM:204100
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Simplified gyral pattern, D... OMIM:618815
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Nathalie Syndrome
Sensorineural hearing impairment, Cataract, Arrhythmia ORPHA:2663
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Hypogonadism, Developmental cataract ORPHA:1383
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Agenesis of cerebellar vermis, Corneal opacity, Cataract, Type II lissencepha... OMIM:613153
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphtha... ORPHA:363741
Cone-Rod Dystrophy 1
Cone/cone-rod dystrophy, Hypogonadism, Hearing impairment OMIM:600624
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, Cataract OMIM:614882
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
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 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Microphthalmia, Syndromic 13
Microcephaly, Anteverted ears, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:300915
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... ORPHA:2410
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
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
Microphthalmia With Brain And Digit Anomalies
Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Microcephaly, Cryptorchidism, Sensorineu... ORPHA:139471
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Chorioretinal atrophy, Op... OMIM:143200
Sialidosis Type 2
Corneal opacity, Tremor, Splenomegaly, Osteoporosis, Abnormal macular morphology, Hearing impairment ORPHA:87876
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Leukoencephalopathy OMIM:620312
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Corneal opacity, Reduced bone mineral density ORPHA:2370
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... ORPHA:137686
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Microcephaly, Chorioretin... OMIM:152950
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microcephaly, Thrombocytopenia, S... ORPHA:290
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy OMIM:601794
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Chorioretinal dysplasia, Protruding ear, Microcornea, Abnormal... ORPHA:899
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ... OMIM:604393
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
N Syndrome
Cryptorchidism, Abnormality of chromosome stability, Hypospadias OMIM:310465
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Sensorineural hearing impairment, Fundus atrophy, Optic disc drusen, Pigme... OMIM:204000
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Hearing impairment OMIM:120433
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Agenesis of corpus callosum, ... ORPHA:401830
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocula... ORPHA:324416
Mucolipidosis Type Iii
Craniofacial hyperostosis, Corneal opacity, Reduced bone mineral density ORPHA:577
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Aplasia/Hypoplasia of the cerebellar ... ORPHA:65
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Congenital Varicella Syndrome
Microphthalmia, Cataract, Cerebral cortical atrophy, Microcephaly ORPHA:291
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Microcephaly, Developmental catara... OMIM:613155
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Birdshot Chorioretinopathy
Optic disc pallor, Retinal detachment, Cataract, Choroidal neovascularization, Abnormal chorioret... ORPHA:179
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Schizencephaly, Cortical dysplasia, Porencephalic cyst, Microcornea, Hypoplasia of the iris, Limb... OMIM:175780
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Underdeveloped superior crus of antihelix, Cerebral dysmyelination... ORPHA:293967
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Keratoconjunctivitis s... OMIM:617388
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Diabetes mellitus, Microcephaly, Protruding ear, Abnormal testis morph... ORPHA:317
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Relative macrocephaly, Increased bone mineral density, Cataract, Posteriorly rotated ears, Congen... OMIM:617306
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Opa... ORPHA:1643
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Lissencephaly 8
Cataract, Microcephaly, Optic atrophy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypopl... OMIM:617255
Morquio Syndrome C
Corneal opacity OMIM:252300
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Microcephaly, Anemia, Neutropenia, Microphthalmia, Leukemia,... OMIM:614082
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... OMIM:614841
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Corneal opacity, Low-set ears ORPHA:1532
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Premature ovarian insufficiency... ORPHA:3156
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Ataxia-Telangiectasia
Abnormality of chromosome stability, Diabetes mellitus, Failure to thrive, Polycystic ovaries, De... ORPHA:100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia, Microcephaly OMIM:616335
Cataract 42
Cataract, Developmental cataract OMIM:115900
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom... OMIM:120200
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Macrocephaly,... OMIM:229200
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Splenomegaly, Optic atrophy, Cerebral atrophy, Reduce... ORPHA:404454
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Cryptorchidism, Secondary microcephaly, Cerebellar hypoplasia, Micro... OMIM:613730
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L... OMIM:310600
Flynn-Aird Syndrome
Increased bone mineral density, Cataract, Osteoporosis, Increased bone density with cystic change... OMIM:136300
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Fem... ORPHA:432
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Abnormal antihelix morphology, Chorioretinal coloboma, Hypoplasia of th... ORPHA:2489
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Cornea... OMIM:158310
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Leuk... OMIM:221900
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Hear... OMIM:610023
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Microcephaly, Epiphyseal stippling, Hypogonadism, Hearing impairment OMIM:302950
Alpha-Mannosidosis, Adult Form
Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Mixed hearing impairment,... ORPHA:309288
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Cerebral... OMIM:204200
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Corneal opacity, Hypertension, Osteolysis involving tarsal bones, Metatarsal osteolys... OMIM:166300
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Cataract, Abnormality iris morphology, Coloboma, Microphthalmia ORPHA:1617
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia, Hypoplasia of the pons, Leukoencephalopathy... OMIM:615181
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Sensorineural hearing impairment, Osteopo... ORPHA:90354
Alpha-Mannosidosis
Craniofacial hyperostosis, Cataract, Corneal opacity, Splenomegaly, Type II diabetes mellitus, Ab... ORPHA:61
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Decreased serum insulin-like growth factor... ORPHA:85327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Agyria, Cataract, Optic nerve hypoplasia, Type II lissencephaly, Peters anoma... OMIM:614643
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Cataract, Aplasia/Hypoplasia of the corpus callosum, Reduced bon... ORPHA:2611
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Retinal dystrophy, Mi... OMIM:617052
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Trichomegaly
Cataract OMIM:190330
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Microcephaly, Abnormally large globe, Sensorineural hearing impairment, Coloboma, Hypop... OMIM:615249
Kid Syndrome
Recurrent cutaneous abscess formation, Cerebellar vermis hypoplasia, Keratitis, Punctate keratiti... ORPHA:477
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... OMIM:617523
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Vaginal hernia, Cataract, Microcephaly, Aplasia/Hypoplasia of the corpus callo... ORPHA:3173
Warburg-Cinotti Syndrome
Hypoplasia of the ear cartilage, Posteriorly rotated ears, Symblepharon, Retinal dystrophy, Osteo... OMIM:618175
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Lissencephaly 5
Cerebellar vermis hypoplasia, Cataract, Porencephalic cyst, Subcortical band heterotopia, Optic a... OMIM:615191
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop... OMIM:619260
Zellweger Syndrome
Posterior embryotoxon, Cataract, Corneal opacity, Hypospadias, Abnormal chorioretinal morphology,... ORPHA:912
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Decreased fe... OMIM:210900
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Low-set ears, Ambiguous genitalia, Microphthalmia, Decreased skull ossification, Agenes... ORPHA:93267
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Martsolf Syndrome 2
Cataract, Hypogonadotropic hypogonadism, Microcephaly, Developmental cataract, Hypoplasia of the ... OMIM:619420
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Corneal opacity, Microcephaly, EEG abnormality, Biparietal n... ORPHA:578
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Catarac... ORPHA:93296
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Gombo Syndrome
Microphthalmia, Delayed puberty, Microcephaly OMIM:233270
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Decreased response to growth horm... OMIM:609053
Warburg Micro Syndrome 2
Cataract, Small scrotum, Asymmetry of the ears, Microcephaly, Cryptorchidism, Macrotia, Optic atr... OMIM:614225
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Developmental And Epileptic Encephalopathy 35
Cataract, Microcephaly, Limb tremor, Cerebral atrophy, Cardiomyopathy OMIM:616647
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Cryptorchidism, Acute leukemia, Lissencephaly, Hypogonadism, Testicular seminoma ORPHA:281090
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Posteriorly rotated ears, Reduced bone mineral density, Delayed ossification of carpal ... OMIM:618392
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Microcephaly, Leukocoria, ... ORPHA:2714
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Hypergonadotropic hypogonadism, Tremor, Pigmentary retinopathy, Rod-cone dystrophy, Int... OMIM:614307
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Rothmund-Thomson Syndrome, Type 1
Premature ovarian insufficiency, Osteoporosis, Male hypogonadism, Juvenile cataract, Hypothyroidism OMIM:618625
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma OMIM:148200
Morm Syndrome
Micropenis, Cataract, Retinal dystrophy, Retinal atrophy ORPHA:75858
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Pierpont Syndrome
Posteriorly rotated ears, Abnormal cortical gyration, Uplifted earlobe, Cryptorchidism, Microcorn... ORPHA:487825
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Microcephaly, Cryptorchidism, Heart murmu... ORPHA:1867
Microphthalmia, Syndromic 8
Microcornea, Cryptorchidism, Microphthalmia, Microcephaly OMIM:601349
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
Micro Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Cere... ORPHA:2510
Maternally-Inherited Diabetes And Deafness
Cataract, Abnormal chorioretinal morphology, Congestive heart failure, Sensorineural hearing impa... ORPHA:225
Warburg Micro Syndrome 4
Decreased testicular size, Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidi... OMIM:615663
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Retinal dystrophy, C... OMIM:610125
Fanconi Anemia, Complementation Group S
Chromosome breakage, Failure to thrive, Ovarian carcinoma, Ovarian neoplasm OMIM:617883
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Cataract OMIM:614876
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Coloboma, Hypoplasia of the brainstem, Retinal dysplasia, Megalocornea, Pachygyria, Agenesis of c... OMIM:236670
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
Warburg Micro Syndrome 3
Decreased testicular size, Cataract, Small scrotum, Microcephaly, Hypoplastic labia minora, Macro... OMIM:614222
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Cataract, Microcephaly, Cerebral atrophy, B lymphocyto... OMIM:619851
Spondylo-Ocular Syndrome
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Osteoporosis, Abnormal antihelix mo... ORPHA:85194
Harel-Yoon Syndrome
Corneal opacity, Optic atrophy, Developmental cataract, Dystonia, Hypertrophic cardiomyopathy OMIM:617183
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Microcephaly, Developmental cataract, Microphthalmia, Micropenis, Hearin... OMIM:610756
Exudative Vitreoretinopathy 4
Osteopenia, Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrha... OMIM:601813
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration OMIM:607016
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Primary ameno... OMIM:615300
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Delayed puberty... ORPHA:496790
Nathalie Syndrome
Abnormal EKG, Cataract, Hearing impairment OMIM:255990
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity, Abnormality of bone mineral density ORPHA:2741
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microcephaly, Splenomegaly, Senso... ORPHA:585
Sialidosis Type 1
Cataract, Corneal opacity, Decreased nerve conduction velocity, Splenomegaly, Sensorineural heari... ORPHA:812
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal p... OMIM:616108
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen... OMIM:615771
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Ambiguous genitalia, Microcepha... ORPHA:2772
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Microcephaly, Astigmatism, Microphthalmia, Macrotia, Thin corpus callosum OMIM:619694
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Xeroderma Pigmentosum, Complementation Group B
Cataract, Microcephaly, Decreased nerve conduction velocity, Basal ganglia calcification, Sensori... OMIM:610651
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Abnormal left ventricular function, Leukopenia, Micropenis, Agenesis of corpus callosum, Hypospad... OMIM:301056
Galactosemia Iv
Cataract OMIM:618881
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Cerebral atrophy OMIM:160900
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Retinal dystrophy OMIM:610156
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Abnormality of the uterus, Conductive hearing impairment, Small earlobe... ORPHA:567
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia... ORPHA:370959
Hurler-Scheie Syndrome
Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Cardiomyopathy, Abnormal nerve c... ORPHA:93476
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Patc... ORPHA:2323
Flynn-Aird Syndrome
Cerebral calcification, Cataract, Abnormality of the thyroid gland, Bone cyst, Primary adrenal in... ORPHA:2047
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Microcephaly OMIM:257910
Pierpont Syndrome
Posteriorly rotated ears, Microcephaly, Cryptorchidism, Microcornea, Large fleshy ears, Microphth... OMIM:602342
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Low-set ears, Microphthalmia, Oc... OMIM:615145
1Q21.1 Microduplication Syndrome
Cryptorchidism, Cataract, Hypospadias, Macrocephaly ORPHA:250994
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Macrocepha... OMIM:109120
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Eosinophilopenia
Autoimmunity OMIM:131430
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Craniosynostosis, Microcephaly, Biparietal narrowing, Low-set ears, Macro... ORPHA:251038
Galactosemia Ii
Cataract OMIM:230200
Nance-Horan Syndrome
Retinal detachment, Cataract, Protruding ear, Microcornea, Microphthalmia ORPHA:627
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Microcephaly, Cryptorchidism, Sensorineural hearing impairment, Ocular... ORPHA:2719
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cataract, Microcephaly, Cerebral atrophy, Macrotia, Dandy-Walker malformation OMIM:616154
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Uterine rupture,... ORPHA:649
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity, Coarse metaphyseal trabecularization OMIM:618961
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
4H Leukodystrophy
Cataract, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, A... ORPHA:289494
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Microcephaly OMIM:618165
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Riboflavin Transporter Deficiency
Optic disc pallor, Facial palsy, Tremor, Abnormal cranial nerve morphology, Hypertension, Progres... ORPHA:97229
Temtamy Syndrome
Aplasia/Hypoplasia of the corpus callosum, Low-set ears, Macrocephaly, Chorioretinal coloboma, Mi... ORPHA:1777
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Cataract, Microcephaly, Basal ganglia calcification, Cryptorchidism, Se... OMIM:214150
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomega... ORPHA:93400
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Microcephaly, Abnormality of cartilage of external ear, Bilateral micr... ORPHA:2399
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Low-set ears, Microphthalmia, Overfo... OMIM:619339
Premature Aging Syndrome, Okamoto Type
Cataract, Abnormal pinna morphology, Diabetes mellitus, Microcephaly, Osteoporosis, Low-set ears OMIM:601811
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Optic a... ORPHA:1528
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
X-Linked Intellectual Disability, Miles-Carpenter Type
Microcornea, Hypogonadism ORPHA:85283
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Mi... ORPHA:3301
Pierson Syndrome
Retinal vascular tortuosity, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Hearing impairment ORPHA:195
Microcephaly 1, Primary, Autosomal Recessive
Small cerebral cortex, Primary microcephaly OMIM:251200
Multiple Benign Circumferential Skin Creases On Limbs
Low-set, posteriorly rotated ears, Small scrotum, Hypospadias, Microcephaly, External ear malform... ORPHA:2505
Immunodeficiency 54
Chromosome breakage, Failure to thrive, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:609981
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
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
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Se... ORPHA:3085
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia, Microcephaly OMIM:600546
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Opacification of the corneal stroma OMIM:271630
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Defi... OMIM:227650
Stickler Syndrome, Type V
Retinal detachment, Sensorineural hearing impairment, Cataract, Vitreoretinopathy OMIM:614284
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Cataract, Hearing impairment, Corpus callosum atrophy, Cerebral atroph... ORPHA:320391
Wagr Syndrome
Cataract, Microcephaly, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Disp... ORPHA:893
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Optic atrophy, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum OMIM:274270
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Lowry-Maclean Syndrome
Osteopenia, Corneal opacity, Hypospadias, Craniosynostosis, Microcephaly, Bilateral cryptorchidis... ORPHA:2409
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Cataract, Premature ovarian insuf... ORPHA:79239
Autosomal Recessive Cutis Laxa Type 2A
Thick cerebral cortex, Cerebellar vermis hypoplasia, Corneal opacity, Dystonia, Dysplastic corpus... ORPHA:357058
Cystinosis
Corneal opacity, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroidism, Rickets, De... ORPHA:213
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation, Microcephaly, Cardiomyopathy, Thrombocytopenia, Hearing impairment ORPHA:67048
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Aortic regurgitation, Corneal opacity, Microcephaly, Developmental cataract, Protrudi... OMIM:616603
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia, Primary amenorrhea OMIM:616947
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Bilateral cryptorchidism, Sensorineural hearing impairment, Coloboma, Se... OMIM:618652
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Protruding ear, Keratoglobus, Astigmatism, Reti... OMIM:108145
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Revesz Syndrome
Abnormality of chromosome stability, Cerebral calcification, Aplastic anemia, Leukocoria, Exudati... OMIM:268130
Adams-Oliver Syndrome 2
Microcephaly, Optic atrophy, Cerebral atrophy, Developmental cataract, Protruding ear, Cerebellar... OMIM:614219
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Microcephaly, Elevated circulating thyroid-stimulating h... OMIM:620185
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia ORPHA:444463
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Absent septum pellucidum, Sclerocornea, Microcephaly, Ovotestis, Junctiona... OMIM:309801
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability, Microcephaly OMIM:620153
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Cataract, Microcephaly, Hypsarrhythmia, Hypoplasia o... ORPHA:79326
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange, Dilated cardiomyopathy, Microc... OMIM:618097
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Anophthalmia, Sclerocornea, Precocious puberty, Microcornea, Coloboma, Ect... OMIM:615877
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Corneal opacity, Precocious puberty, Hemimegalencephaly, Coloboma, Hypophosphatemic r... OMIM:163200
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microcephaly, Retinal pigment epithelial mottling, Hypoplasia of the corpus callosum, D... OMIM:614105
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus arteriosus, ... OMIM:603467
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Congenital Disorder Of Glycosylation, Type Iq
Cerebellar vermis hypoplasia, Cataract, Microcytic anemia, Optic atrophy, Coloboma, Low-set ears,... OMIM:612379
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Gm1 Gangliosidosis
Generalized dystonia, Corneal opacity, Abnormal retinal vascular morphology, Splenomegaly, Tremor... ORPHA:354
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Age... ORPHA:77298
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Increased bone mineral density, Cataract, Delayed patellar ossification, Abno... ORPHA:163649
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Cerebellar hypopl... OMIM:618805
Cockayne Syndrome B
Tremor, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand, Microcornea, H... OMIM:133540
Temtamy Syndrome
Aortic regurgitation, Ectopia lentis, Lens luxation, Lop ear, Thick corpus callosum, Low-set ears... OMIM:218340
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Macrotia, Cataract, Low-set ears, Microcephaly ORPHA:3433
Alg3-Cdg
Osteopenia, Cerebral white matter atrophy, Cataract, Abnormal pinna morphology, Microcephaly, Hyp... ORPHA:79321
Sengers Syndrome
Osteopenia, Cataract, Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac death, Deve... OMIM:212350
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Hearing impairment, Cryptorchidism,... ORPHA:284160
Prune1-Related Neurological Syndrome
Cataract, Microcephaly, Optic atrophy, Cerebral atrophy, EEG abnormality, Low-set ears, Hypertrop... ORPHA:544469
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Immunoglobulin A Deficiency 2
Autoimmunity OMIM:609529
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Cerebellar hypoplasia, Low-set ears, Microphthalmia, Agenesis of corpus callosum OMIM:616570
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Protruding ear, Low-... ORPHA:85284
Combined Oxidative Phosphorylation Deficiency 13
Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoathetosis,... OMIM:614932
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Cerebral atrophy, Hypothyroidism, Testicular atrophy OMIM:222300
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Premature ovarian insufficiency, Dystonia, Hyperintensity of cerebral white matter on M... ORPHA:101006
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... ORPHA:209956
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Failure to thrive, Chromosomal breakage induced by crosslinking agents, Decreased body weight OMIM:619060
Cednik Syndrome
Microcephaly, Congestive heart failure, Macrotia, Sensorineural hearing impairment, Optic atrophy... ORPHA:66631
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Coloboma, Hypogonadism, Delayed puberty, Microphthalmia ORPHA:141333
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
X-Linked Intellectual Disability, Najm Type
Cataract, Optic nerve hypoplasia, Microcephaly, Sensorineural hearing impairment, Optic atrophy, ... ORPHA:163937
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Craniosynostosis ORPHA:1064
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cataract, Anophthalmia, Tremor, Basal ganglia calcification,... ORPHA:90321
Trichothiodystrophy 4, Nonphotosensitive
Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Decreased fertility, Microc... OMIM:234050
Dentici-Novelli Neurodevelopmental Syndrome
Cataract, Microcephaly, Precocious puberty, Simplified gyral pattern, Hypsarrhythmia, Macrotia, T... OMIM:619877
Autosomal Recessive Stickler Syndrome
Retinal detachment, Cataract, Sensorineural hearing impairment, Astigmatism, Vitreoretinopathy ORPHA:250984
Neonatal Adrenoleukodystrophy
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Sensorineural h... ORPHA:44
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolong... ORPHA:542306
Wilson-Turner Syndrome
Cataract, Hypogonadotropic hypogonadism, Uplifted earlobe, Cryptorchidism, Microtia ORPHA:3459
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Increased bone mineral density, Basal ganglia calcification, Dev... OMIM:127000
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Increased corneal thickness, Abnormal pinna morphology, Cryptorchidism,... ORPHA:2363
Microtriplication 11Q24.1
Keratoconus, Attached earlobe, Posteriorly rotated ears, Microcephaly, Hearing impairment ORPHA:289522
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Hypospadias, Cryptorchidism, Opt... ORPHA:494344
Otodental Syndrome
High-frequency sensorineural hearing impairment, Cataract, Lens coloboma, Microcornea, Retinal co... ORPHA:2791
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Deficient excision of ... OMIM:600901
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Isolated Atp Synthase Deficiency
Cataract, Microcephaly, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic atrophy, ... ORPHA:254913
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Protruding ear, Hypopl... ORPHA:401777
Frontonasal Dysplasia 1
Pericallosal lipoma, Cataract, Coloboma, Low-set ears, Conductive hearing impairment, Microphthal... OMIM:136760
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Ichthyosis, X-Linked
Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism OMIM:308100
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Microcephaly, Optic atrophy, Protruding ear, Abnormal cerebral white matter morphology,... OMIM:617481
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Cryptorchidism, Sensorineural h... ORPHA:2377
Spastic Paraplegia 46, Autosomal Recessive
Cataract, Cerebral atrophy, Hand tremor, Infertility, Hypoplasia of the corpus callosum, Head tre... OMIM:614409
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Hypergonadotropic hypogonadism, Optic disc ... OMIM:300514
Cockayne Syndrome A
Tremor, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand, Micropenis, Re... OMIM:216400
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism ORPHA:1381
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Sclerocorne... OMIM:206900
Bartsocas-Papas Syndrome
Corneal opacity, Microcephaly, Popliteal pterygium, Hypoplastic male external genitalia, Ambiguou... ORPHA:1234
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Cimdag Syndrome
Cerebellar vermis hypoplasia, Retinal dystrophy, Dystonia, Microcephaly, Sensorineural hearing im... OMIM:619273
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cataract, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior ... OMIM:224050
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Cataract, Hypospadias, Microcephaly, External ear malformation... ORPHA:568
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc... ORPHA:1806
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Cataract, Microcephaly, Splenomegaly, Cerebral cortical atrophy ORPHA:29
Fanconi Anemia, Complementation Group P
Cryptorchidism, Chromosomal breakage induced by crosslinking agents OMIM:613951
Lig4 Syndrome
Pancytopenia, Hypoplasia of penis, Abnormality of chromosome stability, Telangiectasia of the ski... ORPHA:99812
Bardet-Biedl Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Fanconi Anemia, Complementation Group D1
Failure to thrive, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:605724
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Cerebral atrophy, Polycystic... OMIM:268020
Stromme Syndrome
Accessory spleen, Cerebellar vermis hypoplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, M... OMIM:243605
Baraitser-Winter Syndrome 1
Microcephaly, Cryptorchidism, Sensorineural hearing impairment, Overfolded helix, Lissencephaly, ... OMIM:243310
Dyskeratosis Congenita, Autosomal Recessive 2
Cerebral calcification, Testicular atrophy OMIM:613987
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Cataract, Hypogonadotropic hypogonadism, Microcephaly, Cryptor... ORPHA:1387
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Trisomy 13
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Cryptorchidism, Sensorineural heari... ORPHA:3378
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy, Cataract, Microcephaly OMIM:615352
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Transcobalamin Deficiency
Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Usher Syndrome Type 1
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atr... ORPHA:231169
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Fanconi Anemia
Reduced bone mineral density, Leukopenia, Abnormality of the uterus, Abnormality of the hypothala... ORPHA:84
Vitamin K Antagonist Embryofetopathy
Cataract, Optic atrophy, Epiphyseal stippling, Microtia, Aplasia/Hypoplasia affecting the eye, He... ORPHA:1914
Nanophthalmos 2
Microphthalmia OMIM:609549
Galactokinase Deficiency
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Microcephaly, Sensorin... ORPHA:79237
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Decreased nerve conduction velocity, Rod-cone dystrophy, Sensorineural hearing impairme... OMIM:612674
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Microcephaly, Cryptorchidism, Pigmentary r... ORPHA:3363
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Cataract, Uplifted earlobe, Epiphyseal stippling, Type I diabetes mellitus, Hearing... ORPHA:251009
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Postural tremor, Sensorineural hearing impairment, Optic atrophy, Hyperintensity of cer... OMIM:270800
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Mietens Syndrome
Cataract, Corneal opacity, Sclerocornea, Microcephaly, Microcornea ORPHA:2557
Fanconi Anemia, Complementation Group R
Radial dysplasia, Microcephaly, Chromosomal breakage induced by crosslinking agents, Bone marrow ... OMIM:617244
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Cataract, Microcephaly, Hypoplasia of the pons, Sensorineural hearing impairment, Cerebellar hypo... OMIM:615350
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Low-set ears, Cherry red spot of th... ORPHA:93399
Wagro Syndrome
Decreased testicular size, Cataract, Corneal opacity, Hypertension, Low-set ears, Aniridia, Hypop... OMIM:612469
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Bone marrow hypocellul... OMIM:227645
Kapur-Toriello Syndrome
Cataract, Cryptorchidism, Polymicrogyria, Hypoplastic labia majora, Retinal coloboma, Low-set ear... OMIM:244300
Kapur-Toriello Syndrome
Hypoplasia of penis, Posteriorly rotated ears, Dysplastic corpus callosum, Polymicrogyria, Hypopl... ORPHA:2328
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Epispadias, Vitritis, Retinal dysplasia, Abn... ORPHA:2556
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Opacification of the corneal stroma, Dystonia OMIM:230650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebral calcification, Cerebellar vermis hypoplasia, Cataract, Retinal dystrophy, Buphthalmos, H... OMIM:616538
Oculocerebrocutaneous Syndrome
Corneal opacity, External ear malformation, Cryptorchidism, Aplasia/Hypoplasia of the corpus call... ORPHA:1647
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Craniotelencephalic Dysplasia
Absent septum pellucidum, Optic nerve hypoplasia, Craniosynostosis, Lissencephaly, Cerebellar hyp... OMIM:218670
Werner Syndrome
Cataract, Diabetes mellitus, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral density,... OMIM:277700
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Candidiasis, Familial, 1
Abnormality of the endocrine system, Cutaneous anergy OMIM:114580
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Prim... OMIM:147950
Usher Syndrome Type 3
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Iris hypopi... ORPHA:231183
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... ORPHA:85167
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Sensorineural hearing impai... OMIM:268315
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Dilated cardiomyopathy, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, EEG a... ORPHA:272
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea, Protruding ear OMIM:268320
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... ORPHA:280679
Congenital Fibrinogen Deficiency
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Developmental catara... ORPHA:335
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Microcephaly, Sensorineural hearing impairment, Hypsarrhythmia, Thin corpus callosum, I... OMIM:607906
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Developmental And Epileptic Encephalopathy 1
Microcephaly, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, Dystonia, Microphthalm... OMIM:308350
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Pigment... OMIM:614230
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Hypoplasia of olfactory tract, Hypoplasia of the corpus ... ORPHA:1791
Incontinentia Pigmenti
Retinal detachment, Cataract, Corneal opacity, Eosinophilia, Abnormal chorioretinal morphology, T... ORPHA:464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Agyria, Cataract, Hypoplasia of the pyramidal t... OMIM:253800
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Cataract, Periventricular white matter hy... ORPHA:543470
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Corneal opacity, Corneal erosion, Abnormal pupil morphology... ORPHA:1764
Cach Syndrome
Cataract, Premature ovarian insufficiency, Microcephaly, Progressive macrocephaly, Optic atrophy,... ORPHA:135
Hypomelanosis Of Ito
Cataract, Microcephaly, Cerebral atrophy, Macrocephaly, Iris coloboma OMIM:300337
Sandestig-Stefanova Syndrome
Developmental cataract, EEG abnormality, Hypoplasia of the corpus callosum, Primary microcephaly,... OMIM:618804
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Chromosome Xp11.3 Deletion Syndrome
Cataract, Microcephaly, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary... OMIM:300578
Gapo Syndrome
Keratoconus, Dysmenorrhea, Optic atrophy, Amenorrhea, Oligozoospermia, Hypogonadism, Low-set ears... ORPHA:2067
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Curry-Jones Syndrome
Craniosynostosis, Optic disc coloboma, Microphthalmia, Agenesis of corpus callosum, Iris coloboma ORPHA:1553
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Baralle-Macken Syndrome
Dystonia, Cataract, Global brain atrophy, Microcephaly OMIM:619255
Trichothiodystrophy 3, Photosensitive
Cataract, Bilateral cryptorchidism, Developmental cataract, Low-set ears, Neutropenia, Microphtha... OMIM:616395
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Cataract, Abnormal enchondral ossification, Abnormal cortical ... ORPHA:2635
Short Syndrome
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Sensorineur... ORPHA:3163
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Angelman Syndrome
Keratoconus, Optic disc pallor, Precocious puberty in females, Cerebral dysmyelination, Microceph... ORPHA:72
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Cerebral calcification, Microcephaly, Anemia, Microphthalmia... ORPHA:858
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Aortic regurgitation, Ambiguous genitalia, Cataract, Corneal o... ORPHA:1052
Refsum Disease
Abnormality of retinal pigmentation, Cataract, Heart block, Splenomegaly, Sensorineural hearing i... ORPHA:773
Mmep Syndrome
Microphthalmia, Cryptorchidism, Microcephaly ORPHA:3434
Stickler Syndrome, Type Ii
Retinal detachment, Sensorineural hearing impairment, Cataract, Abnormal vitreous humor morphology OMIM:604841
Triploidy
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Ap... ORPHA:3376
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Irregular menstruation, Astigmatism, Rod-cone ... OMIM:615986
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Cataract, Diabetes mellitus, Morning glory anomaly, Corpus callosum atrophy, B... ORPHA:98673
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Conduct... ORPHA:90646
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Corneal opacity ORPHA:1794
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Decreased serum testosterone concentration, Cataract, Hypospadias, Hypergonadotropic ... ORPHA:2959
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... ORPHA:414
Recessive X-Linked Ichthyosis
Cryptorchidism, Opacification of the corneal stroma ORPHA:461
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Cerebral calcification, Corneal opacity, Absent septum pellucidum, Bon... ORPHA:2396
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Facial palsy, Thrombocytopenia, Chromosomal breakage induce... OMIM:616435
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Combined Oxidative Phosphorylation Deficiency 47
Cataract, Posteriorly rotated ears, Microcephaly, Cryptorchidism, Sensorineural hearing impairmen... OMIM:618958
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au... OMIM:615559
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Posteriorly rotated ears, Corneal opacity, Keratitis, Microtia, Conjunctivitis OMIM:602562
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Generalized bone demineralization, Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
De Barsy Syndrome
Osteopenia, Cerebellar vermis hypoplasia, Corneal opacity, Cataract, Abnormal fundus fluorescein ... ORPHA:2962
Pseudohypoparathyroidism, Type Ia
Cataract, Basal ganglia calcification, Choroid plexus calcification, Osteoporosis, Pseudohypopara... OMIM:103580
Pseudohypoparathyroidism, Type Ic
Cataract, Basal ganglia calcification, Choroid plexus calcification, Osteoporosis, Elevated circu... OMIM:612462
X-Linked Dominant Chondrodysplasia Punctata
Abnormally ossified vertebrae, Cataract, Abnormal pinna morphology, Sensorineural hearing impairm... ORPHA:35173
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Microcyti... ORPHA:324737
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Hurler Syndrome
Aortic regurgitation, Corneal opacity, Splenomegaly, Cranial hyperostosis, Hepatosplenomegaly, Ca... OMIM:607014
Carpenter Syndrome
External genital hypoplasia, Craniosynostosis, Abnormal reproductive system morphology, Cryptorch... ORPHA:65759
Intermediate Uveitis
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... ORPHA:279914
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Cataract, Small scrotum, Microcephaly, Cryptorchidism, Large earlobe, Hypogo... ORPHA:127
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment, Delayed pubic bone ossification, Cataract, Hearing impairment ORPHA:1856
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Osteopetrosis, Macr... OMIM:615085
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Tremor, Sensorineural... ORPHA:52368
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Absent septum pellucidum, Cryptorchidism, Dysplastic corpus callosum, ... OMIM:618820
Fish-Eye Disease
Splenomegaly, Corneal opacity, Angina pectoris ORPHA:79292
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Patent ductus arterios... OMIM:227646
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Cataract, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Retin... OMIM:620157
Tyrosinemia Type 2
Tremor, Corneal opacity, Microcephaly ORPHA:28378
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Premature ovarian insufficiency, Diabetes mellitus, Abnormality of the thyroid gland, C... OMIM:609286
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Microcephaly 10, Primary, Autosomal Recessive
Cataract, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cereb... OMIM:615095
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Ectopia lentis, Sensorineural hearing impairment, Microcornea, Micr... ORPHA:2712
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:609054
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Multiple Sulfatase Deficiency
Corneal opacity, Splenomegaly, Cerebral atrophy, Abnormal periventricular white matter morphology... OMIM:272200
Scheie Syndrome
Aortic regurgitation, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Abnormal n... ORPHA:93474
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Pontocerebellar Hypoplasia, Type 16
Cataract, Hypoplasia of the pons, Optic atrophy, Thin corpus callosum, Cerebellar hypoplasia, Low... OMIM:619527
Stickler Syndrome Type 1
Retinal detachment, Sensorineural hearing impairment, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Hypospadias, Uplifted earlobe, Microcephaly, Cerebral atrophy, Microcornea, Pulmonary a... OMIM:616449
Neuraminidase Deficiency
Cataract, Bone-marrow foam cells, Splenomegaly, Sensorineural hearing impairment, Vacuolated lymp... OMIM:256550
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ... OMIM:221800
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Cryptorchidism, Cortical dysplasia, Porencephalic cyst, Hypoplasia of the iris, Cer... OMIM:613001
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm... ORPHA:2969
Peroxisome Biogenesis Disorder 7A (Zellweger)
Cataract, Posteriorly rotated ears, Epiphyseal stippling, Low-set ears, Polymicrogyria OMIM:614872
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation ORPHA:35737
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Redu... ORPHA:324
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Al-Gazali Syndrome
Osteopenia, Corneal opacity, Sclerocornea OMIM:609465
Pseudopseudohypoparathyroidism
Cataract, Osteoporosis, Pseudohypoparathyroidism OMIM:612463
Cln3 Disease
Cataract, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Increased circulating an... ORPHA:228346
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Coloboma OMIM:613094
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Cataract, Microcephaly ORPHA:177
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypospadias, Aganglionic megacolon, Microcephaly, Keratitis, Cryptorchidism, Hypertension, Recurr... OMIM:308205
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Ruijs-Aalfs Syndrome
Hypogonadism, Posterior subcapsular cataract, Cataract, Osteoporosis OMIM:616200
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Corneal opacity, Decreased response to growth hormone stimulation test, Microcep... ORPHA:488632
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Basal ganglia calcification, Bilateral microphthalmos, Developmental cataract, Retin... ORPHA:93325
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Pseudo-Torch Syndrome 1
Cerebral calcification, Cataract, Dystonia, Microcephaly, Splenomegaly, Lissencephaly, Cerebellar... OMIM:251290
Ravine Syndrome
Abnormal auditory evoked potentials, Abnormal basal ganglia morphology ORPHA:99852
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis, Absence of pubertal development, Hypogonadism, Hearing impairment OMIM:615267
Marinesco-Sjögren Syndrome
Cataract, External genital hypoplasia, Microcephaly, Optic atrophy, Hypogonadism, Cerebellar hypo... ORPHA:559
Cataract 47
Microcornea, Cataract OMIM:612018
Microcephalic Primordial Dwarfism, Toriello Type
Cataract, Neutropenia, Microcephaly ORPHA:2643
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... ORPHA:137675
Hemochromatosis, Type 4
Diabetes mellitus, Cataract, Cardiomyopathy, Impotence, Arrhythmia, Anemia OMIM:606069
Peroxisome Biogenesis Disorder 11B
Cataract, Hearing impairment, Hepatosplenomegaly OMIM:614885
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Mucopolysaccharidosis Type 4
Macrocephaly, Corneal opacity, Hearing impairment, Reduced bone mineral density ORPHA:582
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Meckel Syndrome
Accessory spleen, Low-set, posteriorly rotated ears, Cataract, True hermaphroditism, Anophthalmia... ORPHA:564
Trichothiodystrophy
Osteopenia, Partial agenesis of the corpus callosum, Protruding ear, Microcornea, Macular degener... ORPHA:33364
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Cerebrotendinous Xanthomatosis
Osteopenia, Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic neuropa... ORPHA:909
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Sensorineural hearing impairment, Elevated circulating thyroid-stimulating hormo... OMIM:601812
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cerebellar vermis hypoplasia, Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Microce... ORPHA:495875
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia, Cerebellar hypoplasia, Type II lissencephaly OMIM:614830
Microphthalmia, Syndromic 2
Anophthalmia, Anteverted ears, Microcornea, Hypothyroidism, Iris coloboma, Dandy-Walker malformat... OMIM:300166
Farber Disease
Corneal opacity, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly, Macular degeneration, Abnorm... ORPHA:333
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Osteoporosis, Mitral regurgitation, Opacification of the corneal stroma, Aortic ... OMIM:253010
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Hypopituitarism, Increased T cell count, Increased B cell count ORPHA:98813
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Retinal dystrophy, Microcep... ORPHA:251066
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... ORPHA:3240
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Cataract, EEG with focal spike waves, Retinal dystrophy, Buphthalmo... ORPHA:370997
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Protruding ear, Astigmatism, Retinal coloboma, Low-set ears, Microphthalmia, Inferior c... OMIM:618571
Kniest Dysplasia
Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Rhegmatogenous retinal detachment, ... ORPHA:485
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling, Rickets, Corneal crystals OMIM:219900
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Cu... OMIM:110100
X-Linked Intellectual Disability, Seemanova Type
Microcephaly, Cryptorchidism, Developmental cataract, Hypogonadism, Macrotia ORPHA:85323
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy... ORPHA:1345
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta... OMIM:615184
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Tremor, Hematochezia, Pigmentary retinopathy, Hypogonadism, Type II diabetes mellitus ORPHA:79095
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Microcephaly, Asplenia, Cryptorchidism, Biparietal narrowin... ORPHA:99776
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Cataract, Sensorineural hearing impairment, Hand tremo... OMIM:162400
Gracile Bone Dysplasia
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen, Decreased skull ossification OMIM:602361
Martsolf Syndrome 1
Cataract, Hypogonadotropic hypogonadism, Posteriorly rotated ears, Cardiac arrest, Microcephaly, ... OMIM:212720
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly OMIM:618982
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Decreased response to growth hormone stimulation test, Sensorineural hearing impairment... ORPHA:436174
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Iris atrophy, Cataract, Microcephaly, Phthisis bulbi, Osteoporosis, Retinal calcifica... OMIM:259770
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Cerebral calcification, Corneal dystrophy, Pulmo... ORPHA:3205
Bardet-Biedl Syndrome 22
Microcephaly, Macular hypopigmentation, Hypogonadism, Macrocephaly, Rod-cone dystrophy OMIM:617119
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Cataract, Optic nerve hypoplasia, Microcephaly, Epiphyseal stippling, Zonular cataract OMIM:222765
Alpha-Mannosidosis, Infantile Form
Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Mixed hearing impairment,... ORPHA:309282
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration ORPHA:3233
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Microcephaly, Retinal degeneration, Optic atrophy, Aplasia/Hypoplasia ... OMIM:253280
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cataract, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Low-set ears, Dystonia, Thin ... OMIM:619286
3Mc Syndrome 3
Bifid scrotum, Corneal opacity, Abnormal pinna morphology, Cryptorchidism, Auricular pit, Micrope... OMIM:248340
Trichothiodystrophy 1, Photosensitive
Cataract, Microcephaly, Protruding ear, Microcornea, Telangiectasia, Keratoconjunctivitis sicca, ... OMIM:601675
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Abnormality of thyroid physiology, Transient ischemic attack, Thrombocytopenia, ... ORPHA:1830
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Cerebral calcification, Adrenal hyperplasia, Cataract, Primary adrenal insuff... ORPHA:3453
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Hypothyroidism, Lens coloboma, Reti... ORPHA:42775
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Increased circulating IgE level, Increas... OMIM:617241
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cataract, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypopla... ORPHA:2250
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Cherry red ... OMIM:256540
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Posteriorly rotated ears, Microcephaly, Pulmonary arterial hypertension, Hypop... OMIM:300887
Nance-Horan Syndrome
Developmental cataract, Microcornea, Posterior Y-sutural cataract, Microphthalmia, Macrotia OMIM:302350
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... OMIM:603909
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
Infantile Refsum Disease
Cataract, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Cardiomyopathy, Arrhythm... ORPHA:772
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Fanconi Anemia, Complementation Group L
Chromosome breakage, Bone marrow hypocellularity, Aplasia of the uterus, Micropenis, Chromosomal ... OMIM:614083
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic atrophy, Pigmentary ... OMIM:609033
Carpenter Syndrome 1
Abnormal pinna morphology, External genital hypoplasia, Sagittal craniosynostosis, Precocious pub... OMIM:201000
Vici Syndrome
Abnormality of retinal pigmentation, Cataract, Hypoplasia of the pons, Sensorineural hearing impa... ORPHA:1493
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Abnormality of neutrophils, Hearing impairment, Ocular albinism, Reduced bone mineral d... ORPHA:2720
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Hyperopic astigmatism, Craniosynostosis, Opacification of the corneal strom... OMIM:252600
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Congenital hypoth... OMIM:606519
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Xeroderma Pigmentosum
Conjunctival telangiectasia, Craniofacial hyperostosis, Decreased testicular size, Cataract, Tela... ORPHA:910
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Focal Dermal Hypoplasia
Corneal opacity, Telangiectasia of the skin, Hearing impairment, Ectopia lentis, Hypoplasia of th... ORPHA:2092
Usher Syndrome
Abnormality of retinal pigmentation, Cataract, Sensorineural hearing impairment, Vestibular arefl... ORPHA:886
Cerebrotendinous Xanthomatosis
Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Osteoporosis, Cerebral atrop... OMIM:213700
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Se... OMIM:120330
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism OMIM:612285
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia, Microcephaly ORPHA:3469
Galloway-Mowat Syndrome 1
Cataract, Dystonia, Microcephaly, Macrotia, Optic atrophy, Cerebral atrophy, Hypoplasia of the ir... OMIM:251300
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Hypogonadism, Decreased serum testosterone concentration, Failure to th... OMIM:201100
Gomez-Lopez-Hernandez Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Craniosyno... OMIM:601853
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Pemphigus Erythematosus
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... ORPHA:79480
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Mucopolysaccharidosis Type 7
Splenomegaly, Epiphyseal stippling, Corneal opacity ORPHA:584
Chromosome 6Pter-P24 Deletion Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Macrocephaly, Telangiectasia, Pigment... OMIM:612582
Microphthalmia, Syndromic 6
Small scrotum, Anophthalmia, Sclerocornea, Uplifted earlobe, Adrenal hypoplasia, Protruding ear, ... OMIM:607932
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Neu-Laxova Syndrome
Osteopenia, Cerebral calcification, External genital hypoplasia, Opisthotonus, Pterygium, Pachygy... ORPHA:2671
Pellagra-Like Syndrome
Cataract OMIM:260650
Frontorhiny
Low-set, posteriorly rotated ears, Pericallosal lipoma, Cataract, Diabetes insipidus, Aplasia/Hyp... ORPHA:391474
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Peripheral opacification of the cornea, Corneal opacity, Osteoporosis, Osteolysis inv... OMIM:259600
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
Fryns Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Corneal opacity, Aganglionic megacolon, Cryptorch... ORPHA:2059
Donnai-Barrow Syndrome
Retinal detachment, Cataract, Posteriorly rotated ears, Retinal dystrophy, Partial agenesis of th... OMIM:222448
Cockayne Syndrome Type 3
Cerebral white matter atrophy, Basal ganglia calcification, Microcornea, Lentiglobus, Adult onset... ORPHA:90324
Baraitser-Winter Syndrome 2
Abnormal pinna morphology, Coloboma, Secondary microcephaly, Lissencephaly, Microphthalmia, Pachy... OMIM:614583
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Mixed hearing impairment, Cataract, Corneal opacity, Thickened helices... ORPHA:581
Fanconi Anemia, Complementation Group V
Microcephaly, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Bone marrow ... OMIM:617243
Cataract 48
Cataract OMIM:618415
Neurotrophic Keratopathy
Diabetes mellitus, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal ede... ORPHA:137596
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Transient ischemic attack, Bilateral cryptorchidism, Thrombocytopenia, ... OMIM:242900
Costello Syndrome
Keratoconus, Low-set, posteriorly rotated ears, Cryptorchidism, Large earlobe, Pulmonic stenosis,... ORPHA:3071
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Hypopl... OMIM:214110
Jacobsen Syndrome
Hypospadias, Microcephaly, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hypoplasia, Macul... OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Microcephaly, Peters anomaly, Partial absence of cerebellar vermis, Buphthalmos, Hypopl... OMIM:613150
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Opacification of the corneal stroma, Macrocephaly OMIM:601356
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Cataract, Hypospadias, Posteriorly rotated ears, Adrenal hypoplasia, Brushfiel... OMIM:214100
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Death in childhood OMIM:607624
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Megalencephaly, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy,... ORPHA:3063
Peroxisome Biogenesis Disorder 5A (Zellweger)
Pachygyria, Agenesis of corpus callosum, Tricuspid regurgitation, Hypospadias, Brushfield spots, ... OMIM:614866
Werner Syndrome
Abnormality of retinal pigmentation, Increased bone mineral density, Cataract, Telangiectasia of ... ORPHA:902
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract, Macrocephaly OMIM:619338
Cowden Syndrome 6
Cataract, Hyperthyroidism, Goiter, Progressive macrocephaly, Thyroiditis, Angioid streaks of the ... OMIM:615109
Bardet-Biedl Syndrome 2
Diabetes mellitus, External genital hypoplasia, Dilated cardiomyopathy, Hypogonadism, Rod-cone dy... OMIM:615981
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormally ossified verte... ORPHA:175
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cataract, Female hypogonadism, Premature ovarian insufficiency, Decreased cir... OMIM:240300
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Cockayne Syndrome
Cerebral calcification, Basal ganglia calcification, Lentiglobus, Retinal arteriolar constriction... ORPHA:191
Joubert Syndrome 22
Agenesis of cerebellar vermis, Temporal cortical atrophy, Coloboma, Retinal dysplasia, Hypoplasia... OMIM:615665
Congenital Disorder Of Glycosylation, Type Ij
Cataract, Microcephaly, Tremor, Cryptorchidism, Hypsarrhythmia OMIM:608093
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Pancytopenia, Cataract, Hypoplasia of penis, Telangiectasia of the skin, Microceph... ORPHA:85321
Cowden Syndrome 5
Cataract, Hyperthyroidism, Goiter, Progressive macrocephaly, Thyroiditis, Angioid streaks of the ... OMIM:615108
Refsum Disease, Classic
Cataract, Congestive heart failure, Sensorineural hearing impairment, Cardiomyopathy, Arrhythmia,... OMIM:266500
Cowden Syndrome 1
Cataract, Hyperthyroidism, Goiter, Progressive macrocephaly, Thyroiditis, Hemimegalencephaly, Ang... OMIM:158350
Alagille Syndrome
Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Cryptorchidism, Abnormal pupil morpho... ORPHA:52
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ne... ORPHA:2495
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Coronal craniosynostosis, Astigmatism, Sclerocornea ORPHA:2095
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... ORPHA:3464
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of cerebellar vermis, Small scrotum, Cryptorchidism, Hypogonadism, Low-set ears, Microph... ORPHA:228390
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Dilated cardiomyopathy, Osteoporosis, Abnormality of endocrine pancreas physio... ORPHA:79230
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Sclerocornea, Dilated cardiomyopathy, Ventricular tac... OMIM:300952
Autoimmune Hypoparathyroidism
Prolonged QT interval, Increased bone mineral density, Cataract, Autoimmune hypoparathyroidism, A... ORPHA:36913
Mucopolysaccharidosis Type 1
Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Congestive heart failure, Optic ... ORPHA:579
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc pallor, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Re... ORPHA:364055
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Gaucher Disease
Osteopenia, Increased bone mineral density, Pancytopenia, Corneal opacity, Tremor, Thrombocytopen... ORPHA:355
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Optic disc pallor, Retinal detachment, Corneal opacity, Hypospadias, Microc... ORPHA:464311
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, EEG abnormality, Cataract, Optic atrophy ORPHA:588
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty OMIM:615270
Skin Creases, Congenital Symmetric Circumferential, 1
Posteriorly rotated ears, Microcephaly, Microcornea, Hypoplasia of the corpus callosum, Low-set e... OMIM:156610
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Cataract, Tremor, Cryptorchidism, Cerebellar hypoplasia, Inferior c... OMIM:620327
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Sensorineural hearing impairment, Cataract, Cardiomyopathy OMIM:614879
Gorlin Syndrome
Cerebral calcification, Hypogonadotropic hypogonadism, Cataract, Cryptorchidism, Iris coloboma ORPHA:377
Hurler-Scheie Syndrome
Aortic regurgitation, Corneal opacity, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyp... OMIM:607015
Weill-Marchesani Syndrome
Cataract, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis ORPHA:3449
Reticular Dysgenesis
Hypoplasia of the thymus, Impaired T cell function, Lack of T cell function OMIM:267500
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia OMIM:618727
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Cataract, Thin corpus callosum, Diffuse leukoencephalopathy OMIM:619780
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Rothmund-Thomson Syndrome, Type 2
Cataract, Underfolded helix, Cryptorchidism, Osteoporosis, Telangiectasia, Microcornea, Prominent... OMIM:268400
Müllerian Aplasia And Hyperandrogenism
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... ORPHA:247768
Proboscis Lateralis
Cataract, Corneal opacity, Optic nerve hypoplasia, External genital hypoplasia, Anophthalmia, Opt... ORPHA:141099
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Absent tragus, Abnormal pinna morphology, C... OMIM:603457
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Mosaic Trisomy 8
Corneal opacity, Abnormal pinna morphology, Cryptorchidism, Protruding ear, Abnormal antihelix mo... ORPHA:96061
Jaberi-Elahi Syndrome
Cataract, Dystonia, Microcephaly, Tremor, Globus pallidus hypointensity on susceptibility-weighte... OMIM:617988
Bardet-Biedl Syndrome 1
Decreased testicular size, Attenuation of retinal blood vessels, Bone spicule pigmentation of the... OMIM:209900
3Q29 Microdeletion Syndrome
Cataract, Hypospadias, Microcephaly, Pulmonary arterial hypertension, Low-set ears, Macrocephaly,... ORPHA:65286
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Aniridia 3
Aniridia, Cataract OMIM:617142
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Megalencephaly, Progressive macrocephaly, Large earlobe, Microphthalmia, Cavum septum pellucidum,... OMIM:602501
Mucopolysaccharidosis Type 2
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Corneal opacity, Decreased nerve ... ORPHA:580
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Sensorineural hearing impairment, Conjunctivitis, Cerebral atrophy OMIM:242150
Galactosemia I
Hemolytic anemia, Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency OMIM:230400
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Abnormal pinna morphology, Epiphyseal stippling, Stippled calcification in carpal bones... OMIM:302960
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm ORPHA:523
Hallermann-Streiff Syndrome
Cataract, Microcephaly, Cryptorchidism, Optic disc coloboma, Telangiectasia, Choreoathetosis, Hyp... OMIM:234100
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Aganglionic megacolon, Radial club hand, Sensorineural hearing i... ORPHA:959
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Anterior chamber s... OMIM:601499
Mend Syndrome
Cataract, Abnormal auditory evoked potentials, Cryptorchidism, Hypoplasia of the corpus callosum,... ORPHA:401973
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Fucosidosis
Hypothyroidism, Corneal opacity, Hearing impairment ORPHA:349
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Microcephaly, Brushfi... OMIM:619539
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Low-set, posteriorly rotated ears, Agenesis of pineal gland, Corneal opacity, Optic n... ORPHA:536471
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cataract, Portal hypertension, Porencephalic cyst, Leukopenia, EEG a... ORPHA:974
Wilson Disease
Abnormality of the menstrual cycle, Splenomegaly, Anemia, Kayser-Fleischer ring, Thrombocytopenia ORPHA:905
Classic Phenylketonuria
Cataract, Cerebral calcification, Tremor, Microcephaly ORPHA:79254
Trisomy 18
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Microcephaly, C... ORPHA:3380
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Microcephaly, Keratitis, Ret... OMIM:308300
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, EEG abnormality, Lissencephaly,... OMIM:614833
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia ORPHA:100024
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... ORPHA:2715
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Premature ovarian insufficiency, Aplastic anemia... ORPHA:221008
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Optic disc pallor, Corneal opacity, Hypospadias, Anterior pituitary hypopla... ORPHA:464306
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy, Postural tremor, Hypoplasia of the pons, Corpus callosum atrophy, Hypothyroidism... ORPHA:412057
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Microcephaly, Cryptorchidism, Senso... ORPHA:193
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Bicornuate uterus, Microphthalmia OMIM:615524
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Band keratopathy, Cerebral calcification, Cataract OMIM:604278
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Vogt-Koyanagi-Harada Disease
Retinal detachment, Sensorineural hearing impairment, Cataract ORPHA:3437
Spastic Paraplegia 9B, Autosomal Recessive
Cataract, Microcephaly, Corpus callosum atrophy, Tremor, Cerebral cortical atrophy OMIM:616586
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Abnormal pinna morphology, Bilateral microphthalmos, Microcornea, Microtia, ... ORPHA:2839
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Microcephaly, Microphthalmia, Small earlobe, Hearing impairment ORPHA:364577
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of corp... OMIM:164180
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Icf Syndrome
Abnormality of chromosome stability, Abnormality of neutrophils, Low-set ears, Macrocephaly, Lymp... ORPHA:2268
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Aplasia/Hypoplasia of the cerebellum, Abnormal auditory evoked potential... ORPHA:99027
Rabin-Pappas Syndrome
Retinal detachment, Cataract, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Retin... OMIM:620155
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Cerebral calcification, Cataract, Facial palsy, Posteriorly rotat... ORPHA:2780
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Precocious puberty, Cryptorchidis... ORPHA:636
Meckel Syndrome, Type 8
Anophthalmia, Microcephaly, Low-set ears, Ambiguous genitalia, Microphthalmia OMIM:613885
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Myotonic Dystrophy 2
Tachycardia, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Oligozoos... OMIM:602668
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity ORPHA:231154
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma OMIM:252605
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... OMIM:300845
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Seco... OMIM:616881
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Hypoplasia of... OMIM:617914
Full Schwannomatosis
Cataract, Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Uterine leiomyoma,... ORPHA:93921
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cupped ear, Lens coloboma, Pulmonic stenosis, Hypoplasia of the corpus callosum, Microphthalmia OMIM:618914
Roifman Syndrome
Decreased T cell activation, Hypogonadotropic hypogonadism, Decreased circulating antibody level ORPHA:353298
Dystonia-Deafness Syndrome 1
Cataract, Generalized dystonia, Oculogyric crisis, Sensorineural hearing impairment, Leg dystonia OMIM:607371
Oculogastrointestinal Neurodevelopmental Syndrome
Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Vaginal fistula, Sim... OMIM:619318
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Hereditary Mucoepithelial Dysplasia
Abnormal morphology of female internal genitalia, Cataract, Corneal dystrophy ORPHA:1839
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Cataract, Truncal titubation, Pigmentary retinopathy, Ab... ORPHA:88628
Chime Syndrome
Corneal opacity, Osteolysis, Acute leukemia, Retinal coloboma, Cerebral cortical atrophy, Hearing... ORPHA:3474
Autosomal Recessive Primary Microcephaly
Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c... ORPHA:2512
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Patchy osteoscle... OMIM:241410
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Linear Nevus Sebaceus Syndrome
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, EEG abnorm... ORPHA:2612
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, EEG with focal spike waves, Microcephaly, Tremor, EEG with irr... ORPHA:1942
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Oculodentodigital Dysplasia
Cataract, Abnormal pinna morphology, Microcephaly, Basal ganglia calcification, Microcornea, Abno... OMIM:164200
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Cerebral dysmyelination,... OMIM:609136
Nail-Patella Syndrome
Keratoconus, Cataract, Sensorineural hearing impairment, Antecubital pterygium, Microcornea, Micr... OMIM:161200
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Cerebellar vermis hypoplasia, Cryptorchidism, Poorly ossified vertebrae, E... OMIM:619135
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract, Decreased proportion of class-switched memory B cells OMIM:614878
Prolactinoma
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... ORPHA:2965
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Phacoanaphylactic Uveitis
Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Vitritis, Abnormal... ORPHA:209959
Lathosterolosis
Hypoplasia of penis, Cataract, Cerebral calcification, Microcephaly, Anisopoikilocytosis, Abnorma... ORPHA:46059
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Bone marrow hypocellularity, Low-set ears, Microcephaly OMIM:615272
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Microcephaly, Unilateral microphthalmos, Macrocephaly, Macroorchidism, Polymicrogyri... OMIM:618874
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
H Syndrome
Diabetes mellitus, Hearing impairment, Microcytic anemia, Abnormal cardiovascular system physiolo... ORPHA:168569
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Cataract, Craniosynostosis, Microcephaly, Portal hype... OMIM:620005
Camurati-Engelmann Disease, Type 2
Osteopenia, Hyperostosis, Mitral regurgitation, Hypogonadism, Delayed puberty OMIM:606631
Hurler Syndrome
Corneal opacity, Angina pectoris, Splenomegaly, Cardiomyopathy, Hypertension, Abnormal nerve cond... ORPHA:93473
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Nasopalpebral Lipoma-Coloboma Syndrome
Cupped ear, Coloboma, Low-set ears, Microphthalmia, Conjunctival hyperemia OMIM:167730
Proximal Myotonic Myopathy
Cataract ORPHA:606
Hartsfield Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Craniosynostosis, Aplasia/Hypoplasia of the co... ORPHA:2117
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Corneal opacity, Microcephaly, Osteoporosis, Athetos... OMIM:615273
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Hypointensity of cerebr... ORPHA:206436
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hypoplasia of the iris, Anterior ... OMIM:614195
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Telangiectasia of the skin, Thin bony cortex ORPHA:75508
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Abnormal autonom... OMIM:256800
Senior-Loken Syndrome 9
Osteopenia, Retinal dystrophy, Macular degeneration, Hypogonadism, Rod-cone dystrophy OMIM:616629
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Cataract, Hypospadias, Microcephaly, Cryptorchidism, Microcornea, Hearing impairment ORPHA:217346
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Cataract, Posteriorly rotated ears, Cryptorchidism, Developmental glaucoma, Prominent... OMIM:614438
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Keratoconus, Retinal detachment, Gastrointestinal hemorrhage, Congestive heart failur... OMIM:225400
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Chorioretinal hypopi... ORPHA:398079
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos, Multifocal epileptiform discharges, EEG abnormality, Lo... ORPHA:369891
Vacterl With Hydrocephalus
Anophthalmia, Microtia, third degree, Cryptorchidism, Microcornea, Anotia, Abnormal optic nerve m... ORPHA:3412
1Q21.1 Microdeletion Syndrome
Cataract, Microcephaly, Cryptorchidism, Sensorineural hearing impairment, Microphthalmia, Agenesi... ORPHA:250989
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Aicardi Syndrome
Retinal detachment, Cerebellar vermis hypoplasia, Cataract, Microcephaly, Precocious puberty, Cho... OMIM:304050
Mevalonic Aciduria
Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Agenesis of cerebellar vermis, Poster... OMIM:610377
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
3-Methylglutaconic Aciduria Type 7
Cataract, Neutropenia, Abnormal basal ganglia morphology, Cerebral atrophy, Opisthotonus, Choreoa... ORPHA:445038
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Microcephaly, Cerebral atrophy, Developmental cataract, Microcornea, Pulmonary arter... ORPHA:464738
Moebius Syndrome
Corneal opacity, Facial palsy, Hypogonadotropic hypogonadism, Hearing impairment ORPHA:570
Treacher-Collins Syndrome
Thyroid hypoplasia, Hypoplasia of penis, Cataract, Small scrotum, Cryptorchidism, Blepharospasm, ... ORPHA:861
Cadds
Cataract, Adrenal hypoplasia, Sensorineural hearing impairment, Abnormal cerebral white matter mo... ORPHA:369942
Arterial Tortuosity Syndrome
Keratoconus, Telangiectasia of the skin, Cardiac arrest, Craniosynostosis, Myocardial infarction,... ORPHA:3342
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Braddock-Carey Syndrome 2
Microcephaly, Atresia of the external auditory canal, Microphthalmia, Thrombocytopenia, Hearing i... OMIM:619981
Pseudohypoparathyroidism Type 1A
Cerebral calcification, Decreased response to growth hormone stimulation test, Reduced circulatin... ORPHA:79443
Lathosterolosis
Cataract, Increased mean platelet volume, Microcephaly, Acanthocytosis, Schistocytosis, Osteoporo... OMIM:607330
Seckel Syndrome 2
Hypospadias, Microcephaly, Heart murmur, Cerebellar hypoplasia, Microphthalmia OMIM:606744
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... ORPHA:529799
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral white matter atrophy, Abnormal cortical gyration, Microcephaly, Megaloblastic anemia, De... ORPHA:79351
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Chorioretinal dy... ORPHA:2526
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Telangiectasia of the skin, Red... ORPHA:2909
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Cerebral calcification, Cataract, Abnormal circulating calcium-phosphate regu... ORPHA:2238
Harrod Syndrome
Cataract, Hypospadias, Microcephaly, Cryptorchidism, Protruding ear, Cerebral cortical atrophy ORPHA:2115
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microcephaly, Cupped ear, Ocular albinism, Microtia, Microphthalmia ORPHA:1352
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Abnormal pinna morphology, Cerebellar hypoplasia, Opacification of ... ORPHA:1692
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Tangier Disease
Splenomegaly, Facial diplegia, Myocardial infarction, Opacification of the corneal stroma OMIM:205400
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... OMIM:600785
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals OMIM:210370
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Thin bony cortex, Abnormal ... ORPHA:79106
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Microcephaly, Cryptorchidism, Protruding ear, Hypoplasia of the iri... OMIM:223370
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Hypertension, Anterior lenticonus, Hearing impairment OMIM:203780
Cousin Syndrome
Posteriorly rotated ears, Ambiguous genitalia, female, Microcornea, Ambiguous genitalia, male, Lo... OMIM:260660
Gapo Syndrome
Keratoconus, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, Protruding ear, EEG abno... OMIM:230740
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Monosomy 18P
Generalized dystonia, Microcephaly, Protruding ear, Abnormal antihelix morphology, Hypertension, ... ORPHA:1598
Usher Syndrome Type 2
Cataract, Sensorineural hearing impairment, Subcortical cerebral atrophy, Aplasia/Hypoplasia of t... ORPHA:231178
Curry-Jones Syndrome
Unicoronal synostosis, Megalencephaly, Hemimegalencephaly, Microphthalmia, Polymicrogyria, Agenes... OMIM:601707
Monosomy 13Q14
Cataract, Microcephaly, Retinoblastoma, Protruding ear, Hypoplasia of the corpus callosum, Low-se... ORPHA:1587
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cerebral calcification, Decreased circulating parathyroid hormone level, Cata... OMIM:146200
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
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Hyperparathyroidism, Cataract, Corneal opacity, Osteomalacia, ... ORPHA:534
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypoplasia of the semicircular canal, Abnormality of bone mineral de... ORPHA:138
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Reduced bone mineral density, Intracranial hemorrhage, Conductive hearing ... ORPHA:740
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Mucopolysaccharidosis, Type Vii
Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Cardiomyopathy, Macrocephaly, He... OMIM:253220
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Basal Cell Nevus Syndrome 1
Cataract, Ovarian fibroma, Irregular ossification of hand bones, Ovarian carcinoma, Calcification... OMIM:109400
Vici Syndrome
Schizencephaly, Cerebellar vermis hypoplasia, Leukopenia, T lymphocytopenia, Abnormal thymus morp... OMIM:242840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of cerebellar vermis, Absent septum pellucidum, Type II lissencephaly, Cortical dysplasi... OMIM:615287
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Decreased distal sensory nerve action potential, Tremor, Developmental glaucoma, Sensor... ORPHA:99956
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Panhypopituitarism, Chorioretinal c... ORPHA:2162
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Large earlobe, Low-set ears, Persistent pupillary membrane, Microphthalmia OMIM:257850
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Monosomy 9Q22.3
Cataract, Ovarian fibroma, Calcification of falx cerebri, Macrocephaly, Low-set ears, Microphthal... ORPHA:77301
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Congenital sensorin... ORPHA:45358
Wolf-Hirschhorn Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Retinopathy, Sclerocornea, Microcephaly, Cryptorc... ORPHA:280
Mogs-Cdg
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... ORPHA:79330
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Cryptorchidism, Hypoplasia of the corpus ... OMIM:619185
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Dystonia, Osteomalacia, Decreased nerve conduction velocity... OMIM:277900
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Cryptorchidism, Cerebral atrophy, Hypsarr... OMIM:618494
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Increased bone mineral density, Cerebral calcification, Cataract, Hypergon... ORPHA:79444
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Diabetes insipidus, Adrenal hypoplasia, Microcephaly, Ce... OMIM:157170
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Hypoparathyroidism, Extramedullary hematopoiesis, Diabetes... ORPHA:231222
Dyggve-Melchior-Clausen Disease
Corneal opacity, Hearing impairment, Microcephaly ORPHA:239
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal ... ORPHA:217093
Joubert Syndrome 14
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Morning gl... OMIM:614424
Moebius Syndrome
Hypogonadotropic hypogonadism, Abnormal pinna morphology, Facial diplegia, Hypoplasia of the brai... OMIM:157900
Neurocardiofaciodigital Syndrome
Optic disc pallor, Cerebellar vermis hypoplasia, Cataract, Sclerocornea, Microcephaly, Hypoplasia... OMIM:619869
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Hallermann-Streiff Syndrome
Microcephaly, Cryptorchidism, Congestive heart failure, Developmental cataract, Reduced bone mine... ORPHA:2108
Fraser Syndrome 1
Anophthalmia, Corneal opacity, Abnormal cortical gyration, Hypospadias, Microcephaly, Abnormal pi... OMIM:219000
Subcorneal Pustular Dermatosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:48377
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Microcephaly, Cryptorchidism, Hypoplasia of the brainstem, H... OMIM:193700
Classic Homocystinuria
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, E... ORPHA:394
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Decreased skull ossification, Low-set ears, Macrocephaly OMIM:300863
Isolated Ectopia Lentis
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Roberts Syndrome
Clitoral hypertrophy, Cataract, Craniosynostosis, Microcephaly, External ear malformation, Crypto... ORPHA:3103
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Neonatal epiphyseal stippling, Blue irides, Optic atrophy, Elevated circulating t... OMIM:101800
Weill-Marchesani Syndrome 1
Cataract, Ectopia lentis, Broad skull, Microspherophakia, Shallow anterior chamber, Mitral regurg... OMIM:277600
Spondyloocular Syndrome
Osteopenia, Retinal detachment, Cataract, Unilateral cryptorchidism, Posteriorly rotated ears, Po... OMIM:605822
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Tsh-Secreting Pituitary Adenoma
Osteopenia, Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogona... ORPHA:91347
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal ... ORPHA:217085
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Riddle Syndrome
Weight loss, Decreased circulating total IgM, Chromosomal breakage induced by ionizing radiation,... ORPHA:420741
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Corneal opacity, Splenomegaly, Cardiomyopathy, Mitral regurgitation, Mac... OMIM:253200
Chromosome 13Q14 Deletion Syndrome
Absent septum pellucidum, Anteverted ears, Cryptorchidism, Retinoblastoma, Hypoplasia of the corp... OMIM:613884
Arterial Tortuosity Syndrome
Keratoconus, Aortic regurgitation, Hypertension, Astigmatism, Ischemic stroke, Aortic valve steno... OMIM:208050
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic nerve hypoplasi... OMIM:603671
Yunis-Varon Syndrome
Sclerocornea, Micropenis, Pachygyria, Decreased skull ossification, Agenesis of corpus callosum, ... ORPHA:3472
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Corneal crystals OMIM:219750
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:240500
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... OMIM:620133
2Q31.1 Microdeletion Syndrome
Microcephaly, Cryptorchidism, Optic disc coloboma, Coloboma, Cerebral cortical atrophy, Low-set e... ORPHA:251014
Marden-Walker Syndrome
Hypospadias, Microcephaly, Cryptorchidism, Micropenis, Hypoplasia of the brainstem, Cerebellar hy... OMIM:248700
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Increased bone mineral density, Cataract, Decreased response to growth hor... ORPHA:94089
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Corneal opacity, Corneal erosion, Microtia, Atresia of the external auditory... ORPHA:920
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, M... OMIM:616975
Myhre Syndrome
Abnormal penis morphology, Craniofacial hyperostosis, Cataract, Hypospadias, External genital hyp... ORPHA:2588
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Pancytopenia, Spontaneous, recurrent epistaxis, Corneal opacity, Abnormality of the ... ORPHA:2072
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Absent septum pellucidum, Cryptorchidism, Anence... ORPHA:2189
Larsen Syndrome
Corneal opacity, Cryptorchidism, Multiple carpal ossification centers, Conductive hearing impairm... OMIM:150250
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Sensorineural hearing impai... OMIM:607323
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Cataract, Tricuspid regurgitation, Thrombocytopenia, Congestive hea... ORPHA:508542
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Rickets, Abnormal cerebral white matter morphology, Abnormal c... ORPHA:411629
Cerebrooculofacioskeletal Syndrome 4
Posteriorly rotated ears, Abnormal retinal morphology, Microcephaly, Bilateral microphthalmos, Si... OMIM:610758
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Diffuse cerebral atrophy, Bilateral microphthalmos, Microcephaly ORPHA:77299
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Cryptorchidism, Developmental c... ORPHA:221016
Mucopolysaccharidosis, Type Iva
Osteoporosis, Opacification of the corneal stroma, Hearing impairment OMIM:253000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Corneal opacity, Craniosynostosis ORPHA:79396
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Broad skull, Congestive heart failure, Mic... OMIM:608328
Mycophenolate Mofetil Embryopathy
Microtia, Anotia, Atresia of the external auditory canal, Chorioretinal coloboma, Microphthalmia,... ORPHA:268249
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Autosomal Dominant Cutis Laxa
Osteopenia, Aortic regurgitation, Corneal opacity, Microcephaly, Congestive heart failure, Develo... ORPHA:90348
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Microtia, second degree, Cataract, Corneal opacity, Hypospadia... ORPHA:709
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Tremor,... ORPHA:3455
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Cataract, Small scrotum, Posteriorly rotated ears, Cryptorchidism, Cerebral atrophy, Microtia, Hy... OMIM:601353
Fanconi Anemia, Complementation Group N
Aplastic anemia, Chromosomal breakage induced by crosslinking agents, Microcephaly OMIM:610832
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Lack of T cell function, Increased circulating IgE level ORPHA:277
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Cataract, Calcification of the auricular cartilage, Bilateral cryptorchidism, Bone cyst, Osteolys... ORPHA:3042
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Posteriorly rotated ears, Uplifted earlobe, Microcephaly, Cryptorchid... OMIM:616734
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Posteriorly rotated ears, Corneal opacity, Microcephaly, Sensorineural hearing impairment, Low-se... OMIM:608670
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Microphallus, Abnormal peri... ORPHA:468631
Prader-Willi Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:739
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Microcephaly, Cryptorchidism, Heart murmur, Microtia, Microphthalmia, Hearing impa... ORPHA:2728
Tangier Disease
Corneal opacity, Hepatosplenomegaly, Anemia, Facial diplegia, Thrombocytopenia ORPHA:31150
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microcephaly, Large earlobe, Hypoplasia of the ear cartilage, Microphthalmia, Iris coloboma ORPHA:1236
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Cataract, Microcephaly, Splenomegaly, Optic atrophy, Hypertension, Inferior cerebella... OMIM:617913
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circul... OMIM:308230
Williams Syndrome
Osteopenia, Hypoplasia of penis, Myocardial infarction, Tremor, Protruding ear, Megalocornea, Hyp... ORPHA:904
Leopard Syndrome 1
Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Aplasia of the ovary, Delayed m... OMIM:151100
Heart And Brain Malformation Syndrome
Attached earlobe, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Microcephaly, Cerebral ... OMIM:616920
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Resting tremor, Cataract, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Abno... ORPHA:314404
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Aganglionic megacolon, Uplifted earlobe, Microcephaly, Apla... OMIM:235730
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Microcephaly, Precocious puberty, Partia... ORPHA:50
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Corneal opacity, Hypospadias, Craniosynostosis, Microcephaly, Enlarge... OMIM:268300
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Hypoplasia of the ovary, Micropenis, Decreas... OMIM:619321
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Hereditary Cryohydrocytosis With Reduced Stomatin
Intracerebral periventricular calcifications, Cataract, Spontaneous hemolytic crises, Microcephal... ORPHA:168577
Congenital Tufting Enteropathy
Optic disc coloboma, Corneal erosion, Cataract, Punctate keratitis ORPHA:92050
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis, Microtia ORPHA:2547
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Cupped ear, Micropenis, Hypoplastic labia ma... OMIM:263650
Poems Syndrome
Sclerosis of hand bone, Papilledema, Diabetes mellitus, Sclerosis of foot bone, Abnormality of th... ORPHA:2905
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... OMIM:300853
Mucopolysaccharidosis Type 6
Splenomegaly, Opacification of the corneal stroma, Hearing impairment ORPHA:583
Oculoectodermal Syndrome
Transient ischemic attack, Chorioretinal atrophy, Pineal cyst, Microcornea, Astigmatism, Opacific... OMIM:600268
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Corneal opacity, Cataract, Eosinophilia, Thrombocytopenia, Leukocyt... OMIM:274000
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Microcephaly, Phimosis, Thrombocytop... OMIM:305000
Progeroid Short Stature With Pigmented Nevi
Diabetes mellitus, Premature ovarian insufficiency, Hypospadias, Small for gestational age, Impai... OMIM:176690
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... OMIM:607594
Smith-Lemli-Opitz Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Hypospadias, Ambiguous genitali... ORPHA:818
Steinfeld Syndrome
Abnormal pinna morphology, Retinal coloboma, Microphthalmia, Iris coloboma, Hearing impairment OMIM:184705
Ciliary Dyskinesia, Primary, 1
Asplenia, Conductive hearing impairment, Abnormal cornea morphology, Male infertility OMIM:244400
Agel Amyloidosis
Cataract, Facial palsy, Cardiomyopathy, Keratoconjunctivitis sicca, Abnormal spleen morphology, A... ORPHA:85448
Charge Syndrome
Anophthalmia, External genital hypoplasia, Decreased response to growth hormone stimulation test,... OMIM:214800
Lymphedema-Distichiasis Syndrome
Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Arrhythmia, Corneal ulceration OMIM:153400
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Posteriorly rotated ears, Microcephaly, Cryptorchidism, Penoscrotal t... OMIM:619148
Dyskeratosis Congenita
Cataract, Cerebral calcification, Diabetes mellitus, Abnormality of neutrophils, Hearing impairme... ORPHA:1775
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Hypospadias, Optic nerve hypoplasia, Facial palsy, Microcephaly, Coloboma, ... ORPHA:508498
Solitary Median Maxillary Central Incisor
Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Microcephaly, Colo... OMIM:147250
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Adrenal gland ag... OMIM:273395
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Impaired T cell function, Patent ductus arteriosus, Decreased specific anti-pol... OMIM:614576
Dent Disease
Cataract, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bo... ORPHA:1652
Stevenson-Carey Syndrome
Posteriorly rotated ears, Coloboma, Cerebellar hypoplasia, Low-set ears, Hypoplasia of the corpus... OMIM:611961
Pseudotrisomy 13 Syndrome
Posteriorly rotated ears, Cyclopia, Adrenal hypoplasia, Microcephaly, Cryptorchidism, Bicornuate ... OMIM:264480
Joubert Syndrome 2
Agenesis of cerebellar vermis, Retinal dystrophy, Optic disc coloboma, Macrocephaly, Hypoplasia o... OMIM:608091
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Small for gestational age, ... ORPHA:125
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Optic atrophy, Increased head circumference, O... OMIM:612301
Fryns Syndrome
Bifid scrotum, Hypospadias, Aganglionic megacolon, Shawl scrotum, Cryptorchidism, Hypoplasia of t... OMIM:229850
Frontonasal Dysplasia 2
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Craniosynostosis, Microcephaly, Bila... OMIM:613451
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy, Mixed hearing impairment, Optic atrophy OMIM:201180
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Intracerebral periventricular calcifications, Cataract, Microcephaly, Splenomeg... OMIM:608885
Renpenning Syndrome 1
Cataract, Hypospadias, Microcephaly, Phimosis, Cupped ear, Cerebral atrophy, Protruding ear, Colo... OMIM:309500
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, EEG wi... OMIM:614231
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma ORPHA:425
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Arrhythmia, Type II diabetes mellitus ORPHA:3191
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction, Abnormal c... ORPHA:206448
Fryns Microphthalmia Syndrome
Microphthalmia, Macrotia, Anophthalmia OMIM:600776
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... OMIM:277440
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Absent septum pellucidum, Aganglionic megacolon, Microcephaly, Keratitis, Crypto... ORPHA:2273
Cystinosis, Nephropathic
Male infertility, Cerebral calcification, Diabetes mellitus, Splenomegaly, Retinal pigment epithe... OMIM:219800
Momo Syndrome
Underfolded helix, Abnormality of the thyroid gland, Bilateral microphthalmos, Abnormal bone ossi... ORPHA:2563
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Cataract, Menometrorrhagia, Epistaxis, Ocular albinism, Cardiomyopat... ORPHA:79430
Frontofacionasal Dysplasia
Microcornea, Microphthalmia, Cataract, Iris coloboma OMIM:229400
Lowe Oculocerebrorenal Syndrome
Osteomalacia, Cryptorchidism, Rickets, Periventricular cysts, Corneal scarring, Developmental cat... OMIM:309000
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Failure to thrive in infancy, Partial IgA deficiency, Lack of T cell function, Decreased circulat... ORPHA:35078
Trisomy 10P
Posteriorly rotated ears, Periventricular white matter hypodensities, Abnormal auditory evoked po... ORPHA:171929
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Cat Eye Syndrome
Chorioretinal coloboma, Low-set ears, Pulmonic stenosis, Microphthalmia, Iris coloboma, Hearing i... OMIM:115470
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Thymoma, Ke... OMIM:269200
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Abnormal antihelix morphology, Large earlobe, Low-set ears, Microphthalmia ORPHA:1438
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Decreased circulating parathyroid hormone level, Delayed epiphyseal ossification, Rickets, Sparse... OMIM:241530
Osteogenesis Imperfecta
Osteopenia, Relative macrocephaly, Mixed hearing impairment, Aortic regurgitation, Corneal opacit... ORPHA:666
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Cataract, Follicular thyroid carcinoma, Enlarge... ORPHA:201
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Chorioretinal coloboma, Limbal der... ORPHA:857
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome stability, Microcephaly,... ORPHA:647
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Torticollis, Hypospadias, Craniosynostosis, Microcephaly, Cryptorchidism, Cupped e... OMIM:609945
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Adrenal hypoplasia, Microcephaly, Asplenia, Spleno... OMIM:249000
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Cystocele, ... ORPHA:285
Autosomal Dominant Optic Atrophy And Cataract
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr... ORPHA:67036
Chondrodysplasia Punctata, Autosomal Dominant
Epiphyseal stippling, Cataract OMIM:118650
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:600081
Atypical Werner Syndrome
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Retinal degenerat... ORPHA:79474
Leiomyomatosis, Diffuse, With Alport Syndrome
High-frequency sensorineural hearing impairment, Cataract, Sensorineural hearing impairment, Ante... OMIM:308940
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Microcep... ORPHA:2166
Chromosome 1Q41-Q42 Deletion Syndrome
Microcephaly, Cryptorchidism, Microtia, Cerebellar hypoplasia, Low-set ears, Microphthalmia OMIM:612530
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Septate vagina, Uterus d... ORPHA:2237
Meckel Syndrome 14
Tricuspid regurgitation, Decreased calvarial ossification, Mitral regurgitation, Low-set ears, Ap... OMIM:619879
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microcephaly, Atresia of the external auditory canal, Microphthalmia, Cyclopia, Iris coloboma, He... ORPHA:3186
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... OMIM:264700
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Mixed hearing impairment, Aplasia of the thymus, Facial palsy, Progressive se... OMIM:620186
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... ORPHA:79280
Microcephaly-Micromelia Syndrome
Craniosynostosis, Microcephaly, Simplified gyral pattern, Aplasia/Hypoplasia of the corpus callos... OMIM:251230
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Pericallosal lipoma, Cataract, Conductive hearing impairment, ... ORPHA:306542
Kindler Epidermolysis Bullosa
Phimosis, Conjunctivitis, Anemia, Corneal opacity ORPHA:2908
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Cataract, Hypospadias, Posteriorly rotated ears, Microcephaly, Abnormal cerebr... OMIM:619268
Myhre Syndrome
Cataract, Microcephaly, Cryptorchidism, Hypertension, Microtia, Low-set ears, Macrocephaly, Micro... OMIM:139210
3-Methylglutaconic Aciduria, Type Viii
Cataract, Dystonia, Tremor, Sensorineural hearing impairment, Cerebral atrophy, Secondary microce... OMIM:617248
Ocular Cystinosis
Corneal crystals ORPHA:411641
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Cy... OMIM:130050
Blau Syndrome
Pericarditis, Cataract, Band keratopathy, Hypertension, Iritis, Cystoid macular edema, Abnormal c... OMIM:186580
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Impaired T cell function OMIM:192430
Van Den Ende-Gupta Syndrome
Posteriorly rotated ears, Sclerocornea, Craniosynostosis, Overfolded helix, Protruding ear, Small... OMIM:600920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Cerebellar vermis hypoplasia, Uplifted earlobe, Asplenia, Abnormal pupil morpholog... ORPHA:261552
Mucolipidosis Ii Alpha/Beta
Osteopenia, Aortic regurgitation, Craniosynostosis, Splenomegaly, Congestive heart failure, Heart... OMIM:252500
Branchiooculofacial Syndrome
Cataract, Agenesis of cerebellar vermis, Hypospadias, Anophthalmia, Microcephaly, Facial palsy, C... OMIM:113620
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Microcephaly, Anencephaly, Hypoplasia of the corpus callosum, Micr... OMIM:611134
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Cerebellar vermis hypoplasia, Uplifted earlobe, Asplenia, Large basal ganglia, Web... ORPHA:261537
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic ... OMIM:300554
Holoprosencephaly 7
Microcephaly, Partial agenesis of the corpus callosum, Bilateral microphthalmos, Panhypopituitari... OMIM:610828
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... ORPHA:881
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism, Low-set ears ORPHA:404440
Stuve-Wiedemann Syndrome 1
Osteoporosis, Abnormal autonomic nervous system physiology, Low-set ears, Opacification of the co... OMIM:601559
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Biparietal narrowing, Microcephaly ORPHA:1915
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Mitral stenosis, Opacification of the corneal stroma OMIM:231005
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microcephaly, Protruding ear, Low-set ears, Macrocephaly, Microphthalmia OMIM:620098
Legius Syndrome
Cataract, Dystonia, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Macrocephaly, Ovaria... ORPHA:137605
Deafness, X-Linked 7
Atresia of the external auditory canal, Posteriorly rotated ears, Unilateral microphthalmos, Hear... OMIM:301018
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Abnormal spleen morphology, Abnormality of the uterus, Low-set ears... ORPHA:2470
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Cryptorchidism, Sensorineural hearing impairment, Blue irides, Hypogonadis... OMIM:613266
Neu-Laxova Syndrome 1
Cataract, Bifid uterus, Cryptorchidism, Lissencephaly, Cerebellar hypoplasia, Low-set ears, Prima... OMIM:256520
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Relative macrocephaly, Unicoronal synostosis, Cryptorchidism, Cerebellar hypoplasia, Ambiguous ge... OMIM:616300
Microphthalmia With Limb Anomalies
Anophthalmia, Posteriorly rotated ears, Unilateral cryptorchidism, Low-set ears, Microphthalmia OMIM:206920
17Q12 Microduplication Syndrome
Microphthalmia, Cortical dysplasia ORPHA:261272
Frontonasal Dysplasia 3
Microphthalmia, Posteriorly rotated ears, Low-set ears OMIM:613456
3P25.3 Microdeletion Syndrome
Microphthalmia, Cerebral white matter atrophy, Pulmonic stenosis, Sensorineural hearing impairment ORPHA:435638
Limb Body Wall Complex
Lens subluxation, Anencephaly, Iris coloboma, Corneal opacity ORPHA:2369
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulat... ORPHA:289157
Focal Dermal Hypoplasia
Mixed hearing impairment, Anophthalmia, Ectopia lentis, Microcephaly, Cryptorchidism, Optic atrop... OMIM:305600
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Uplifted earlobe, Cortical dysplasia, Prot... OMIM:613406
Galloway-Mowat Syndrome 3
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypertension, Lissencephaly, Hypoplasia... OMIM:617729
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears OMIM:607597
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased circulating antibody level, Decreased lymphocyte proliferation... ORPHA:572
Alg9-Cdg
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus ORPHA:79328
Holoprosencephaly 9
Anophthalmia, Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Decreased respons... OMIM:610829
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Ohdo Syndrome, X-Linked
Small scrotum, Posteriorly rotated ears, Cryptorchidism, Microtia, Low-set ears, Shawl scrotum, M... OMIM:300895
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Abnormal preputium morphology, Keratoconjunctivitis, Opacification of... ORPHA:2907
Degcags Syndrome
Osteopenia, Leukopenia, Iron deficiency anemia, Agenesis of corpus callosum, Hypospadias, Congeni... OMIM:619488
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Dent Disease 1
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:300009
Mowat-Wilson Syndrome
Bifid scrotum, Cerebellar vermis hypoplasia, Uplifted earlobe, Asplenia, Large basal ganglia, Con... ORPHA:2152
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Cerebellar hypoplasia, Low-set ears ORPHA:163966
Blau Syndrome
Pericarditis, Cataract, Facial palsy, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Abnorm... ORPHA:90340
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Sclerocornea, Protruding ear, Small earlobe, Pachygyria, Micropenis... OMIM:216340
Digeorge Syndrome
Parathyroid agenesis, Sclerocornea, Microcephaly, Decreased circulating parathyroid hormone level... OMIM:188400
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Abnormal pinna morphology, Aganglionic megacolon, Microcephaly, Crypto... OMIM:309800
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia OMIM:209920
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Cataract, Sutural cataract, Microcephaly, Tremor, Sensorineural hearing imp... OMIM:612474
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Posteriorly rotated ears, Decreased res... OMIM:146510
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Failure to thrive, Aplasia of the thymus OMIM:242700
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Hypothyroidism, Hemolyt... ORPHA:797
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Septate vagina, Uterus didelphys, Decreased calvarial ossification, Mi... OMIM:617925
Proximal Renal Tubular Acidosis
Cataract, Band keratopathy, Hypovolemia, Reduced bone mineral density, Coloboma ORPHA:47159
Monosomy 9P
Hypospadias, Microcephaly, Cryptorchidism, Abnormal antihelix morphology, Anotia, Microtia, Atres... ORPHA:261112
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... ORPHA:91500
Purine Nucleoside Phosphorylase Deficiency
Abnormality of B cell physiology, Failure to thrive, Impaired T cell function, Decreased lymphocy... OMIM:613179
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Cataract, Urethrovaginal fistula, Cryptorchidism, Abnormal pelvis bone ossif... ORPHA:93271
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Thyroiditis, Decreased lymphocyte proliferation in response to mitogen, Ol... ORPHA:83471
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Dandy-Walker malformation OMIM:603194
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Annular pancreas, Central hypothyroidism, Neural tube defect, Hypoplas... ORPHA:798
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, Small scrotum, Posteriorly rotated ears, Craniosynostosis, Microcep... OMIM:612289
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Meckel Syndrome, Type 5
Microphthalmia, Anencephaly OMIM:611561
Teebi-Shaltout Syndrome
Microcephaly, Aortic valve stenosis, Low-set ears, Microphthalmia, Small earlobe, Hypoplastic hel... OMIM:272950
Fraser Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Hypospadias, Anophthalmia,... ORPHA:2052
Adams-Oliver Syndrome 1
Microcephaly, Imperforate hymen, Cortical dysplasia, Hypertension, Pulmonary arterial hypertensio... OMIM:100300
Vascular Ehlers-Danlos Syndrome
Keratoconus, Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Cryptorchidism, ... ORPHA:286
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypoplasia of the ... OMIM:601186
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Cutaneous anergy, Failure to thrive, ... OMIM:600802
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... ORPHA:672
Noonan Syndrome 1
Male infertility, Failure to thrive in infancy, Hypospadias, Cryptorchidism, Patent ductus arteri... OMIM:163950
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Abnormality of the spleen, Pe... ORPHA:2538
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Pmm2-Cdg
Osteopenia, Cerebellar vermis hypoplasia, Elevated circulating thyroid-stimulating hormone concen... ORPHA:79318
Immunodeficiency 58
Decreased specific antibody response to vaccination, Decreased T cell activation, Failure to thri... OMIM:618131
Hereditary Orotic Aciduria
Patent ductus arteriosus, Impaired T cell function ORPHA:30
Fraser Syndrome 2
Hypoplasia of the thymus, Atresia of the external auditory canal, Low-set ears, Ambiguous genital... OMIM:617666
Orotic Aciduria
Failure to thrive, Impaired T cell function OMIM:258900
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Cryptorchidism, Optic atrophy, Large earlobe, Microphthalmia, ... ORPHA:1106
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Holoprosencephaly 1
Diabetes insipidus, Cyclopia, Adrenal hypoplasia, Microcephaly, Cerebellar hypoplasia, Microphtha... OMIM:236100
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Absent septum pellucidum, Abnormal cortical gyration, Bifid uterus... OMIM:236680
Cystic Fibrosis
Male infertility, Failure to thrive OMIM:219700
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Enlarged lacrimal glands, Weight loss, Increased circulating an... OMIM:181000
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Wiskott-Aldrich Syndrome
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... OMIM:301000
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Posteriorly rotated ears, Optic nerve h... ORPHA:508488
Craniofacial Microsomia 1
Anophthalmia, Conductive hearing impairment, Duplicated tragus, Sensorineural hearing impairment,... OMIM:164210
Isolated Arrhinia
Microphthalmia, Microtia ORPHA:1134
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Microtia, Atresia of the external auditory canal, Condu... OMIM:154500

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
Testes - hypoplasia Mcph1tm1a(EUCOMM)Wtsi HOM Early adult
Ovary - hypoplasia Mcph1tm1a(EUCOMM)Wtsi HOM Early adult
Testes - atrophy Mcph1tm1a(EUCOMM)Wtsi HOM Early adult
Uterus - hypoplasia Mcph1tm1a(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 Mcph1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Mcph1tm1a(EUCOMM)Wtsi Mcph1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Mcph1tm1a(EUCOMM)Wtsi PMC6459510
Panel 3: Genetics and Precision Medicine of Otitis Media. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery (April 2017) Mcph1tm1a(EUCOMM)Wtsi 28372532
Mcph1-deficient mice reveal a role for MCPH1 in otitis media. PloS one (March 2013) Mcph1tm1a(EUCOMM)Wtsi PMC3596415

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Mcph1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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