Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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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

Legacy Phenotype Associated Images

View all 236 images

View all 11 images

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
Primary microcephaly, Small cerebral cortex OMIM:251200
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, 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
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Autosomal Dominant Keratitis
Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Colo... ORPHA:2334
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Hearing impairment, Infertility, Rod-cone dystrophy OMIM:300719
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Hearing impairment, Chorioretinal coloboma, Cataract, Cryptorchidism OMIM:274205
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Perinuclear antineutrophil antib... OMIM:614420
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spastic Paraparesis And Deafness
Cataract, Hearing impairment, Tremor, Hypogonadism OMIM:312910
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Galactosialidosis
Hearing impairment, Corneal opacity, Cherry red spot of the macula ORPHA:351
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Corneal opacity, Carpal osteolysis OMIM:277950
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Thin corpus callosum, Subcortical band heterotopia, Agyria, Microcephaly, Pachygyria, Cataract, T... OMIM:615412
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
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 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
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
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcornea, Microcephaly, Hypogonadism, Cataract ORPHA:2528
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity ORPHA:1490
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Macular exudate, Reduced bone mineral density, Retinal ne... ORPHA:891
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Immune Thrombocytopenia
Platelet antibody positive OMIM:188030
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract, Dandy-Walker malformation, Cerebellar vermis hypoplasia ORPHA:73245
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Microphthalmia, Tremor, Microcephaly, Ca... OMIM:278780
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage, Corneal neovascularization, Microphthalm... OMIM:278730
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Microphthalmia, Retinal dystrophy, Retinal detachment, Microcephaly, Abnormalit... OMIM:251270
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cerebral atrophy, Microphthalmia, Microcornea, Retinopathy, Microcephaly, Hypoplas... OMIM:616171
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Sensorineural hearing impairment, Corneal... ORPHA:90654
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Retinal detachment, Sensorineural hearing impairment, Corneal opac... ORPHA:1473
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Microphthalmia/Coloboma 4
Coloboma, Microphthalmia, Microcornea OMIM:251505
Cofs Syndrome
Optic atrophy, Microphthalmia, Cerebral calcification, Sensorineural hearing impairment, Microcep... ORPHA:1466
Bilateral Striopallidodentate Calcinosis
Microcephaly, Cerebral calcification, Thrombocytopenia, Corneal opacity ORPHA:1980
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Cerebellar agenesis ORPHA:1397
Warburg Micro Syndrome 1
Optic atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, External genital hypoplasia, ... OMIM:600118
Aniridia 1
Hypoplasia of the corpus callosum, Corneal neovascularization, Aniridia, Corneal erosion, Optic n... OMIM:106210
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Hearing impairment, Cataract, Optic disc pallor OMIM:165300
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 17
Male infertility OMIM:617214
Mucolipidosis Iv
Optic atrophy, Dysplastic corpus callosum, Cerebral dysmyelination, Corneal opacity, Microcephaly... OMIM:252650
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Microcornea, Osteoporosis, Intention tremor, Cerebral cortical atrophy, Cataract,... ORPHA:48431
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Spastic Paraparesis-Deafness Syndrome
Cataract, Sensorineural hearing impairment, Hypogonadism ORPHA:2815
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Isosexual precocious puberty, Abnormal vitreous humor morphology, Microphthalmia, Ret... ORPHA:2788
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Leber Congenital Amaurosis 2
Cerebellar vermis hypoplasia, Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of reti... OMIM:204100
Gelatinous Drop-Like Corneal Dystrophy
Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi... ORPHA:98957
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Foveal Hypoplasia 2
Optic nerve misrouting, Microphthalmia, Astigmatism, Foveal hyperpigmentation, Axenfeld anomaly, ... OMIM:609218
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
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
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchi... ORPHA:363741
Nathalie Syndrome
Cataract, Sensorineural hearing impairment, Arrhythmia ORPHA:2663
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Bradycardia, EEG abnormality, Corneal opacity, Hypertrophic cardiomyopathy, Developm... OMIM:618815
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Cataract-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Developmental cataract, Hypogonadism ORPHA:1383
Dermoids Of Cornea
Corneal opacity OMIM:304730
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Cone-Rod Dystrophy 1
Cone/cone-rod dystrophy, Hearing impairment, Hypogonadism OMIM:600624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Retinal detachment, Dandy-Walker malformation, Coloboma, Type II lissencephaly, C... OMIM:613153
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Miscarriage, Death in infancy, Chromosome breakage, Neonatal death, ... OMIM:613390
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614882
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Osteopor... ORPHA:2410
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Opt... OMIM:611040
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Anteverted ears, Microcephaly, Chorioretinal coloboma, Iris coloboma OMIM:300915
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
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
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Retinal dystrophy, Microcornea, Remnants of the hyaloid vas... ORPHA:231736
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Cataract, Leukoencephalopathy OMIM:620312
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c... OMIM:217300
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Sialidosis Type 2
Tremor, Corneal opacity, Osteoporosis, Hearing impairment, Splenomegaly, Abnormal macular morphology ORPHA:87876
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy OMIM:601794
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
Microphthalmia, Inferior cerebellar vermis hypoplasia, Retinal dystrophy, Anophthalmia, Sensorine... ORPHA:139471
Leber Congenital Amaurosis 4
Keratoconus, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Opti... OMIM:604393
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Corneal opacity, Low-set, posteriorly rotated ears ORPHA:2370
Congenital Rubella Syndrome
Microphthalmia, Anemia, Sensorineural hearing impairment, Corneal opacity, Microcephaly, Abnormal... ORPHA:290
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Asherman Syndrome
Secondary amenorrhea, Miscarriage, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the ... ORPHA:137686
Leber Congenital Amaurosis 1
Optic disc drusen, Keratoconus, Sensorineural hearing impairment, Fundus atrophy, Attenuation of ... OMIM:204000
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Protruding ear, Astigmatism, Microphthalmia, Myopic astigmatism, Retinal detachmen... OMIM:152950
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Corneal opacity, Abnormal optic nerve morphology, Microcepha... ORPHA:899
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the corpus callosum, Microphthalmia, Retinal dystrophy, Focal cortical dysplasia, C... OMIM:613155
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Hearing impairment, Agenesis of corpus callosum, Cataract, Aplasia/Hyp... ORPHA:401830
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hearing impairment, Chorioretinal coloboma, Cataract, Iris coloboma OMIM:120433
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Leber Congenital Amaurosis
Keratoconus, Abnormal optic disc morphology, Hearing impairment, Abnormality of retinal pigmentat... ORPHA:65
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Mucolipidosis Type Iii
Reduced bone mineral density, Corneal opacity, Craniofacial hyperostosis ORPHA:577
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Ocular anterior segment dysgenesis, Microphthalmia, Retinal dysplasia, Col... ORPHA:324416
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Congenital Varicella Syndrome
Cataract, Microphthalmia, Cerebral cortical atrophy, Microcephaly ORPHA:291
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Iris coloboma OMIM:616428
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Delayed puberty, Cerebral dysmyelination, Underdeveloped s... ORPHA:293967
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Microphthalmia, Corneal opacity, Limb dystonia, Ectopia pupillae, Hyp... OMIM:175780
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Hemorrhage of the eye, Microcornea, Corneal opacity, Persistent pupillary membran... ORPHA:91495
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Thyroiditis, Punctate keratitis, Splenom... OMIM:617388
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma, ... ORPHA:1643
Macular Dystrophy, Corneal
Recurrent corneal erosions, Macular dystrophy, Punctate opacification of the cornea, Corneal dyst... OMIM:217800
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Corneal opacity, Low-set ears ORPHA:1532
Erythrokeratodermia Variabilis
Protruding ear, Corneal opacity, Abnormal testis morphology, Microcephaly, Hearing impairment, Ca... ORPHA:317
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Osteopetrosis, Macrocephaly, Microphthalmia, Cavum septum pellucid... OMIM:617306
Morquio Syndrome C
Corneal opacity OMIM:252300
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology, Exudative retinal detachment, Subretina... ORPHA:209956
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Hearing impairment, Scleroc... OMIM:614170
Senior-Loken Syndrome
Premature ovarian insufficiency, Retinal dystrophy, Abnormality of bone mineral density, Hyperten... ORPHA:3156
Fanconi Anemia, Complementation Group G
Microphthalmia, Anemia, Abnormality of chromosome stability, Microcephaly, Thrombocytopenia, Leuk... OMIM:614082
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Cerebral atrophy, Corneal neovascularization, Secondary microcephaly, Tarsal scler... ORPHA:404454
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Breast hypoplasia, Hypoplasia of the uterus, Male hypog... ORPHA:432
Cataract 42
Cataract, Developmental cataract OMIM:115900
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia, Chorioretinal dysplasia OMIM:616335
Brittle Cornea Syndrome 1
Macrocephaly, Keratoglobus, Keratoconus, Decreased corneal thickness, Hearing impairment, Abnorma... OMIM:229200
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Microphthalmia/Coloboma 12
Microphthalmia, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Ch... OMIM:120200
Lissencephaly 8
Optic atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Polymicrogyria, Type II lissenc... OMIM:617255
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Morm Syndrome
Cataract, Retinal atrophy, Micropenis, Retinal dystrophy ORPHA:75858
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Microphthalmia, Cataract, Cerebellar hypoplasia, Cryptorchidism, Optic di... OMIM:613730
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Melena, Keratoconjunctivitis, Hearing impairment, Eosinophilia, Catar... OMIM:158310
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
Congenital Hereditary Endothelial Dystrophy Type Ii
Sensorineural hearing impairment, Corneal stromal edema, Corneal opacity, Abnormal Descemet membr... ORPHA:293603
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Flynn-Aird Syndrome
Increased bone mineral density, Progressive sensorineural hearing impairment, Osteoporosis, Catar... OMIM:136300
Norrie Disease
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Sensorineural ... OMIM:310600
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Microcornea, Corneal opacity, Retinal nonattachment, Remnants of the hyaloid vasc... OMIM:221900
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Abnormal antihelix morphology, Hearing impairment, Chorioretinal coloboma, Hypoplasia of the anti... ORPHA:2489
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Astigmatism, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia of the... OMIM:617523
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Microphthalmia/Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Microphthalmia, Coloboma, Hearing impairment, Peters anomaly,... OMIM:610023
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Brachyolmia Type 1, Hobaek Type
Osteopenia, Opacification of the corneal stroma, Corneal opacity OMIM:271530
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Alpha-Mannosidosis, Adult Form
Osteopenia, Mixed hearing impairment, Aortic regurgitation, Pancytopenia, Subcortical cerebral at... ORPHA:309288
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Hearing impairment, Microcephaly, Hypogonadism, Cataract OMIM:302950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria... OMIM:615181
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Bloom Syndrome
Azoospermia, Abnormality of chromosome stability, Decreased circulating IgG level, Chromosome bre... OMIM:210900
N Syndrome
Abnormality of chromosome stability, Cryptorchidism, Hypospadias OMIM:310465
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metacarpal osteolysis, Carpal osteolysis, Hypertension, Corneal opacity, Metatarsal o... OMIM:166300
2Q24 Microdeletion Syndrome
Microphthalmia, Low-set, posteriorly rotated ears, Abnormality iris morphology, Coloboma, Cataract ORPHA:1617
Alpha-Mannosidosis
Chronic otitis media, Macrocephaly, Craniofacial hyperostosis, Abnormal helix morphology, Corneal... ORPHA:61
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613801
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Brittle Cornea Syndrome
Corneal erosion, Keratoglobus, Retinal detachment, Sensorineural hearing impairment, Corneal dyst... ORPHA:90354
Warburg Micro Syndrome 2
Optic atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Global brain atrophy, M... OMIM:614225
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber,... OMIM:305390
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:619203
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cerebral atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Va... OMIM:204200
Rothmund-Thomson Syndrome, Type 1
Premature ovarian insufficiency, Recurrent otitis media, Juvenile cataract, Osteoporosis, Hypothy... OMIM:618625
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Warburg-Cinotti Syndrome
Corneal neovascularization, Osteolytic defects of the phalanges of the hand, Retinal dystrophy, S... OMIM:618175
Achondrogenesis Type 2
Abnormal bone ossification, Abnormal vitreous humor morphology, Delayed pubic bone ossification, ... ORPHA:93296
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the corpus callosum, Microphthalmia, Macrocephaly, Retinal dysplasia, Lissencephaly... OMIM:614643
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Bone Marrow Failure Syndrome 3
Aplastic anemia, Astigmatism, Reduced bone mineral density, Neutropenia, Retinal dystrophy, Retin... OMIM:617052
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Macrocephaly, Reduced bone mineral density, Dandy-Walker malform... ORPHA:2611
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Sensorineural hearing impairment, Developmental cataract OMIM:613076
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, Hypertrophic cardiomyopathy, Microcephaly, Cerebral cortical atrophy, Cataract, A... ORPHA:3173
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Testicular seminoma, Corneal opacity, Hypogonadism, Lissencephaly, Cryptorchidism ORPHA:281090
Trichomegaly
Cataract OMIM:190330
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Macular coloboma, Hypoplasia of the corpus callosum, Geographic atrophy, Sensor... OMIM:619260
Kid Syndrome
Corneal neovascularization, Prelingual sensorineural hearing impairment, Delayed pubic bone ossif... ORPHA:477
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Progressive microcephaly, Coloboma, Type II lissencephaly... OMIM:615249
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Low-set ears, Decreased skull ossification, Agenesis of corpus callosum, Cataract... ORPHA:93267
Lissencephaly 5
Optic atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Cerebellar vermis hypoplasia, Typ... OMIM:615191
Micro Syndrome
Optic atrophy, Delayed puberty, Microphthalmia, Low-set, posteriorly rotated ears, Hypoplasia of ... ORPHA:2510
Vitreoretinochoroidopathy
Microphthalmia, Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retin... OMIM:193220
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Mac... OMIM:267760
Mucolipidosis Type Iv
Corneal opacity, Biparietal narrowing, Retinopathy, Microcephaly, Abnormality of retinal pigmenta... ORPHA:578
Martsolf Syndrome 2
Hypoplasia of the corpus callosum, Microcephaly, Macrotia, Developmental cataract, Cataract, Hypo... OMIM:619420
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma OMIM:611638
Zellweger Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Clitoral hypertrophy, Macrocephaly, Hypospadias... ORPHA:912
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Ataxia-Telangiectasia
Delayed puberty, Abnormality of chromosome stability, Decreased circulating antibody level, Abnor... ORPHA:100
Developmental And Epileptic Encephalopathy 35
Cerebral atrophy, Cardiomyopathy, Microcephaly, Limb tremor, Cataract OMIM:616647
Gombo Syndrome
Delayed puberty, Microphthalmia, Microcephaly OMIM:233270
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment OMIM:217400
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Astigmatism, Microphthalmia, Chromosomal b... OMIM:609053
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Delayed ossification of carpal bones, Macrotia, Posteriorly rotated... OMIM:618392
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Cataract, Mal... OMIM:240950
Oculo-Palato-Cerebral Syndrome
Global brain atrophy, Microphthalmia, Retinal detachment, Frontal cortical atrophy, Remnants of t... ORPHA:2714
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Retinopathy Of Prematurity
Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma, Keratitis OMIM:148200
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior se... OMIM:610256
Pierpont Syndrome
Microphthalmia, Abnormal cortical gyration, Microcornea, Hearing impairment, Macrotia, Uplifted e... ORPHA:487825
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Intention tremor, Hypergonadotropic hypogonadism, Cataract, Rod-cone dystrophy, Pigmentar... OMIM:614307
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Microphthalmia, Syndromic 8
Microcephaly, Microcornea, Cryptorchidism, Microphthalmia OMIM:601349
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Fanconi Anemia, Complementation Group S
Failure to thrive, Ovarian carcinoma, Ovarian neoplasm, Chromosome breakage OMIM:617883
Hereditary Bullous Dystrophy, Macular Type
External genital hypoplasia, Corneal opacity, Decreased testicular size, Microcephaly, Heart murm... ORPHA:1867
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614876
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, ... OMIM:212550
Exudative Vitreoretinopathy 4
Osteopenia, Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional reti... OMIM:601813
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Abnormal antihelix morphology... ORPHA:85194
Leukodystrophy, Hypomyelinating, 24
Cerebral atrophy, Thin corpus callosum, B lymphocytopenia, Hypothyroidism, Microcephaly, Cataract... OMIM:619851
Harel-Yoon Syndrome
Optic atrophy, Corneal opacity, Hypertrophic cardiomyopathy, Dystonia, Developmental cataract OMIM:617183
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Small scrotum, Microcephaly, Hearing impairment, Developmental cataract, Cataract... OMIM:610756
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Microphthalmia, Syndromic 5
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microcornea, C... OMIM:610125
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Delayed puberty, Optic nerve hypoplasia, Corneal opacity, Hypertrophic cardiomyopa... ORPHA:496790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Microphthalmia, Optic nerve hypoplasia, Type II lissencephaly, Retinal atrophy, Corneal opacity, ... OMIM:236670
Warburg Micro Syndrome 4
Optic atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Microco... OMIM:615663
Warburg Micro Syndrome 3
Optic atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Small s... OMIM:614222
Multiple Sulfatase Deficiency
Optic atrophy, Macrocephaly, Sensorineural hearing impairment, Corneal opacity, Microcephaly, Abn... ORPHA:585
Nathalie Syndrome
Cataract, Hearing impairment, Abnormal EKG OMIM:255990
Retinitis Pigmentosa
Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Hyperinsu... ORPHA:791
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Obesity, Abnormality of the uterus, Stre... OMIM:194072
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Corneal opacity, Megalocornea ORPHA:2741
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Macular dots, Retinal thinning, Astigmatism, Macular deg... OMIM:270200
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Thin corpus callosum, Retinal dysplasia, Cerebellar vermis hypoplasia, Cortical d... OMIM:615771
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Thin corpus callosum, Astigmatism, Microcephaly, Macrotia, Cataract OMIM:619694
Sialidosis Type 1
Decreased nerve conduction velocity, Sensorineural hearing impairment, Tremor, Corneal opacity, R... ORPHA:812
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attached earlobe, Attenuation of reti... OMIM:616108
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Microphthalmia, Decreased nerve conduction velocity, Sensorineural hearing impairm... OMIM:610651
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia, Corneal opacity, Pulmonic stenosis, Microcephaly, Leukopenia, Craniosynos... OMIM:301056
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Hemochromatosis, Type 1
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... OMIM:235200
Eosinophilopenia
Autoimmunity OMIM:131430
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Coloboma, Abnormality ... ORPHA:370959
Myotonic Dystrophy 1
Cerebral atrophy, Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Stickler Syndrome, Type V
Retinal detachment, Sensorineural hearing impairment, Vitreoretinopathy, Cataract OMIM:614284
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Microcephaly, Decreased calvarial ossific... ORPHA:2772
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis, Retinal dystrophy OMIM:610156
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
22Q11.2 Deletion Syndrome
Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovascularization, Microphthalmia, Sm... ORPHA:567
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity, Cardiomyop... ORPHA:93476
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Oculopalatocerebral Syndrome
Microcephaly, Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Pierpont Syndrome
Microphthalmia, Microcornea, Microcephaly, Hearing impairment, Posteriorly rotated ears, Large fl... OMIM:602342
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Flynn-Aird Syndrome
Cerebral calcification, Bone cyst, Cerebral cortical atrophy, Primary adrenal insufficiency, Type... ORPHA:2047
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Macrocephaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Rieger anoma... OMIM:109120
Microphthalmia/Coloboma 9
Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Retinal detachment, Microco... OMIM:615145
3Q29 Microduplication Syndrome
Microphthalmia, Macrocephaly, Aniridia, Low-set ears, Biparietal narrowing, Microcephaly, Hearing... ORPHA:251038
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cerebral atrophy, Dandy-Walker malformation, Microcephaly, Macrotia, Cataract OMIM:616154
Norrie Disease
Delayed puberty, Microphthalmia, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Sensorineu... ORPHA:649
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
1Q21.1 Microduplication Syndrome
Cataract, Cryptorchidism, Macrocephaly, Hypospadias ORPHA:250994
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Dandy-Walker malformation, Sensorineural hearing impairment, Athetosis, Corneal opacity, ... ORPHA:2719
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Cerebral white ma... OMIM:610532
Nance-Horan Syndrome
Microphthalmia, Retinal detachment, Microcornea, Cataract, Protruding ear ORPHA:627
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting... ORPHA:83461
Oculoauricular Syndrome
Microphakia, Microphthalmia, Phthisis bulbi, Ocular anterior segment dysgenesis, Chorioretinal at... OMIM:612109
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68