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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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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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

27 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
Microcephaly, Small cerebral cortex OMIM:251200
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Gray matter heterotopia, Microcepha... 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
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract, Hearing impairment, Infertility OMIM:300719
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Anti-La/SS-B antibody positivity... ORPHA:90283
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cryptorchidism, Cataract, Abnormal antihelix morphology, Hearing impairment OMIM:274205
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Galactosialidosis
Cherry red spot of the macula, Corneal opacity, Hearing impairment ORPHA:351
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spastic Paraparesis And Deafness
Hearing impairment, Cataract, Hypogonadism, Tremor OMIM:312910
Winchester Syndrome
Carpal osteolysis, Generalized osteoporosis, Osteolysis involving tarsal bones, Corneal opacity OMIM:277950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Cerebral atrophy, Microcornea, Cataract, Microcephaly, Simplified gyral pattern, Mic... OMIM:616171
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract, Microcephaly, Microphthalmia, Hypogonadism ORPHA:2528
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Retinal detachment, Astigmatism, Lens subluxation, Mosaic ... OMIM:309300
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Bilateral cryptorchidism, Abnormality of male interna... OMIM:261550
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Thrombocytopenic Purpura, Autoimmune
Platelet antibody positive OMIM:188030
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Chorioretinal dysplasia, Cerebellar hypoplasia, Abnormality of retinal pigmenta... OMIM:251270
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Dandy-Walker malformation, Cataract, Cerebellar vermis hypoplasia ORPHA:73245
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Sensorineural hearing impairment, Cataract, Reti... ORPHA:90654
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Sensorineural hearing impairment, C... ORPHA:1473
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma, Microcornea OMIM:251505
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Blepharospasm, Co... ORPHA:171673
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Microcephaly, Corneal opacity, Thrombocytopenia ORPHA:1980
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Warburg Micro Syndrome 1
Cerebral atrophy, Developmental cataract, Agenesis of corpus callosum, Low-set ears, Cryptorchidi... OMIM:600118
Cofs Syndrome
Cerebral calcification, Sensorineural hearing impairment, Abnormality of retinal pigmentation, Ca... ORPHA:1466
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Cerebellar agenesis ORPHA:1397
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Bone Marrow Failure Syndrome 5
Microcephaly, Hypogonadism, Testicular atrophy OMIM:618165
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Intention tremor, Microcornea, Cataract, Osteoporosis, Microphthal... ORPHA:48431
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the fovea, Hypoplasia of the iris, Cataract, Optic n... OMIM:106210
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy, Hearing impairment, Tremor OMIM:165300
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Retinal degeneration, Dystonia, Corneal opac... OMIM:252650
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Cataract, Hypogonadism ORPHA:2815
Aniridia 3
Cataract OMIM:617142
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Osteoporosis-Pseudoglioma Syndrome
Abnormal vitreous humor morphology, Exudative vitreoretinopathy, Osteopenia, Corneal opacity, Ret... ORPHA:2788
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Optic nerve misrouting, Foveal hyperpigmentation,... OMIM:609218
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Cataract, Subcortical band heterotopia, Microcephaly, Pachygyria, Cortical dysplasia OMIM:615412
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, EEG abnormality, Optic nerve hypoplasia, Corneal opacity, Optic disc hypo... ORPHA:137902
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Retinal dystrophy, Cataract OMIM:610156
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Retinitis Pigmentosa
Hyperinsulinemia, Abnormality of retinal pigmentation, Cataract, Hypogonadism, Conductive hearing... ORPHA:791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar hypoplasia, Cataract, Corneal opacity, Retinal detachment, Hypoplasia of the p... OMIM:613153
Xeroderma Pigmentosum, Complementation Group D
Sensorineural hearing impairment, Cataract, Telangiectasia, Microcephaly, Keratoconjunctivitis si... OMIM:278730
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Cataract, External genital hypoplasia, Microphthalmia, Rod-cone dystrophy, Retina... ORPHA:363741
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Cataract, Microphthalmia, Tremor OMIM:278780
Nathalie Syndrome
Sensorineural hearing impairment, Cataract, Arrhythmia ORPHA:2663
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Microcephaly, Cerebral atrophy, Cataract OMIM:617393
Cone-Rod Dystrophy 1
Hearing impairment, Cone/cone-rod dystrophy, Hypogonadism OMIM:600624
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Delayed puberty, Cataract, Osteoporosis, Secondary growth hormone deficiency,... ORPHA:2410
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Microphthalmia, Macular atrophy, Retinal dy... OMIM:212550
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, EEG abnormality, Cryptorchidism, Micropenis, Corn... OMIM:618815
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Retinal dysplasia, Microcephaly, Hypoplasia of the brainstem, Microphthalm... OMIM:615771
Bloom Syndrome
Decreased fertility in females, Decreased circulating IgG level, Decreased circulating total IgM,... OMIM:210900
Cataract-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Developmental cataract, Hypogonadism ORPHA:1383
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, Cataract OMIM:614882
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Cataract, Per... OMIM:143200
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cystoid macular edema, Cataract, Microphth... OMIM:611040
Microcephaly 1, Primary, Autosomal Recessive
Microcephaly, Small cerebral cortex OMIM:251200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Hypogonadism OMIM:601794
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
Chorioretinal coloboma, Anophthalmia, Abnormality of the hypothalamus-pituitary axis, Agenesis of... ORPHA:139471
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Sensorineural heari... ORPHA:290
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Corneal opacity, Reduced bone mineral density ORPHA:2370
Sialidosis Type 2
Abnormal macular morphology, Corneal opacity, Splenomegaly, Osteoporosis, Hearing impairment, Tremor ORPHA:87876
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigmatism, Retinal detachment, Cat... OMIM:152950
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy, Attenuation of retinal ... OMIM:604393
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Walker-Warburg Syndrome
Abnormal cortical gyration, Cryptorchidism, Cerebellar hypoplasia, Retinal detachment, Retinal dy... ORPHA:899
Congenital Varicella Syndrome
Microcephaly, Cataract, Microphthalmia, Cerebral cortical atrophy ORPHA:291
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis, Microphthalmia, Co... ORPHA:324416
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Sensorineural hearing impairment, Cataract, Ret... OMIM:310600
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Microphthalmia, Syndromic 13
Anteverted ears, Microcornea, Microcephaly, Coloboma, Microphthalmia OMIM:300915
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Agenesis of corpus callosum, Cataract, Aplasia/Hypoplasia of the cerebellar vermis, ... ORPHA:401830
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Hypopigmentation of the fundus, Astigmatism, Cortical dysplasia, Peripapi... OMIM:175780
Microphthalmia, Isolated 6
Microphthalmia, Microcornea, Retinal fold OMIM:613517
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Sensorineural hearing impairment, Cataract, Pigmentary retinop... OMIM:204000
Mucolipidosis Type Iii
Craniofacial hyperostosis, Corneal opacity, Reduced bone mineral density ORPHA:577
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia, Cerebral dysmyelination, Hypogonadotropic hypogonadism, Primary amenorrhea, Cr... ORPHA:293967
Masp2 Deficiency
Systemic lupus erythematosus OMIM:613791
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Cataract, Aplasia/Hypoplasia of the cerebellar vermis, Abnor... ORPHA:65
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Buph... ORPHA:91495
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Dyskeratosis Congenita, Autosomal Recessive 2
Cerebral calcification, Testicular atrophy OMIM:613987
Macular Dystrophy, Corneal
Corneal dystrophy, Recurrent corneal erosions, Macular dystrophy, Punctate opacification of the c... OMIM:217800
Morquio Syndrome C
Corneal opacity OMIM:252300
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Keratoconjuncti... OMIM:617388
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries, Aplasia/Hypoplasia affecting the eye, Secondar... ORPHA:1643
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract, Hypsarrhythmia OMIM:607906
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Microcephaly, Diabetes mellitus, Protruding ear, Abnormal testis morph... ORPHA:317
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Microphthalmia, Retinal fold, Exudati... ORPHA:209956
Cerebrooculofacioskeletal Syndrome 1
Agenesis of corpus callosum, Cerebellar hypoplasia, Sensorineural hearing impairment, Cataract, O... OMIM:214150
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Senior-Loken Syndrome
Premature ovarian insufficiency, Abnormality of retinal pigmentation, Cataract, Hypertension, Ret... ORPHA:3156
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Fanconi Anemia, Complementation Group G
Leukemia, Neutropenia, Anemia, Abnormality of chromosome stability, Microcephaly, Microphthalmia,... OMIM:614082
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Cataract, Microcephaly, Hypogonadism, Hearing impairment OMIM:302950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia, Chorioretinal dysplasia OMIM:616335
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Retinopathy, Pigmentary, And Mental Retardation
Microcephaly, Pigmentary retinopathy, Cataract, Hypogonadism OMIM:268050
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Primary amenorrhea, Hyperinsulinemia, Obesity, Decreased serum estra... ORPHA:66628
Gómez-López-Hernández Syndrome
Corneal opacity, Low-set ears, Cerebellar vermis hypoplasia ORPHA:1532
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Delayed puberty, Cryptorc... ORPHA:432
Warburg Micro Syndrome 2
Hypoplastic labia majora, Developmental cataract, Small scrotum, Cryptorchidism, Microcornea, Cat... OMIM:614225
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Cataract, Hearing impairment OMIM:608763
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Decreased corneal thickness, Keratoconus, Macrocephaly,... OMIM:229200
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorchidism, Micropenis, D... OMIM:614841
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea, ... OMIM:614170
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Prema... OMIM:617565
Alopecia Areata 1
Autoimmunity OMIM:104000
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cryptorchidism, Hypoplasia of the antihelix, Cataract, Abnormal antihelix... ORPHA:2489
Flynn-Aird Syndrome
Increased bone mineral density, Cataract, Osteoporosis, Increased bone density with cystic change... OMIM:136300
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Sclerosis of finger phalanx, Cerebral atrophy, EEG abnormality, Action tremor, Corneal scarring, ... ORPHA:404454
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Cataract, Melena, Keratoconjunctivitis, Opacification of the corneal stroma, Cornea... OMIM:158310
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Phthisis bulbi, Persistent pupillary membrane, Microcornea, Cataract, C... OMIM:221900
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Sensor... ORPHA:293603
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Primary amenorrhea, Hyperinsulinemia, Obesity, Decreased testicular ... ORPHA:179494
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract, Micropenis ORPHA:75858
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration, Hearing impairment OMIM:121450
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Dysequilibrium Syndrome
Cataract ORPHA:1766
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Sclerocornea, Microcornea, Cataract, Microphthalmia, Coloboma, Ectopia pupillae, Pr... OMIM:615877
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Myotonic Dystrophy 1
Cholelithiasis, Cerebral atrophy, Hypogonadism, Testicular atrophy OMIM:160900
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Gordon Holmes Syndrome
Cerebral atrophy, Hypogonadotropic hypogonadism, Oligomenorrhea, Infertility OMIM:212840
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy, Corpus callosum atrophy OMIM:225740
Atopic Keratoconjunctivitis
Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascularization ORPHA:163934
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Coloboma, Iris coloboma, Hear... OMIM:610023
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Warburg Micro Syndrome 3
Shallow anterior chamber, Developmental cataract, Small scrotum, Secondary microcephaly, Micropen... OMIM:614222
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metatarsal osteolysis, Carpal osteolysis, Corneal opacity, Metacarpal osteolysis, Hyp... OMIM:166300
2Q24 Microdeletion Syndrome
Cataract, Low-set, posteriorly rotated ears, Coloboma, Microphthalmia, Abnormality iris morphology ORPHA:1617
Adams-Oliver Syndrome 2
Cerebral atrophy, Developmental cataract, Low-set ears, Cerebellar hypoplasia, Microcephaly, Micr... OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Low-set ears, Cerebellar hypoplasia, Cataract, Retinal detachment, Optic nerve hypoplasia... OMIM:614643
Alpha-Mannosidosis
Abnormal helix morphology, Craniofacial hyperostosis, Cataract, Corneal opacity, Splenomegaly, Ma... ORPHA:61
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, EEG abnormality, Aplasia/Hypoplasia of the corpus callosum, Cataract, Hypertrophi... ORPHA:3173
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Coloboma, Cataract OMIM:120433
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Vacuolated lymphocytes, Cataract, Rod-cone dystrophy, Macular degeneration, Con... OMIM:204200
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Linear Verrucous Nevus Syndrome
Retinopathy, Abnormal cornea morphology, Aplasia/Hypoplasia of the corpus callosum, Cataract, Apl... ORPHA:2611
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Retinal degeneration, Progressive microcephaly, Agenesis of corpus callosum, Cerebellar h... OMIM:615249
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Osteopenia, Aortic regurgitation, Low-set ears, Corneal opacity, Microcep... OMIM:616603
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:611638
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Osteopenia, Aortic regurgitation, Cataract, Corneal opacity, Op... ORPHA:309288
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Lissencephaly 5
Abnormal cerebral white matter morphology, Cataract, Porencephalic cyst, Subcortical band heterot... OMIM:615191
Brittle Cornea Syndrome
Corneal scarring, Corneal dystrophy, Keratoglobus, Conductive hearing impairment, Sensorineural h... ORPHA:90354
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum, Low-set ears, Cataract, Decreased skull ossification, Microphthalmia... ORPHA:93267
N Syndrome
Cryptorchidism, Abnormality of chromosome stability, Hypospadias OMIM:310465
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Delayed proximal femoral epiphyseal ossification, Delayed ver... ORPHA:93296
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Sensorineural hearing impairment, Corneal dystrophy OMIM:217400
Gombo Syndrome
Microcephaly, Microphthalmia, Delayed puberty OMIM:233270
Trichomegaly
Cataract OMIM:190330
Fanconi Anemia, Complementation Group I
Hypothyroidism, Colpocephaly, Bone marrow hypocellularity, Agenesis of corpus callosum, Chromosom... OMIM:609053
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting... ORPHA:83461
Zellweger Syndrome
EEG abnormality, Primary adrenal insufficiency, Posterior embryotoxon, Cryptorchidism, Cataract, ... ORPHA:912
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Congenital macroorchidism, Macroorchidism, postpubertal OMIM:300624
Warburg-Cinotti Syndrome
Sterile abscess, Retinal dystrophy, Symblepharon, Hypoplasia of the ear cartilage, Low-set ears, ... OMIM:618175
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Mucolipidosis Type Iv
Biparietal narrowing, Retinopathy, EEG abnormality, Abnormality of retinal pigmentation, Corneal ... ORPHA:578
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Corneal opacity, Testicular seminoma, Lissencephaly, Acute leukemia, Hypogonadism ORPHA:281090
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Retinal pigment epithelial atrophy, Macular degeneration... OMIM:270200
Kid Syndrome
Punctate keratitis, Severe sensorineural hearing impairment, Recurrent cutaneous abscess formatio... ORPHA:477
Oculo-Palato-Cerebral Syndrome
Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Cataract, Retinal detachment, Re... ORPHA:2714
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Developmental cataract, Cataract, Microcephaly, Macrotia, Hypoplas... OMIM:619420
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Developmental And Epileptic Encephalopathy 35
Cerebral atrophy, Cataract, Microcephaly, Cardiomyopathy, Limb tremor OMIM:616647
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar hypoplasia, Cataract, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the po... OMIM:615181
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Hypop... OMIM:604229
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Small scrotum, Micropenis, Cataract, Microcephaly, Microphthalmia, Hearin... OMIM:610756
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Hypogonadism-Cataract Syndrome
Infertility, Cataract, Elevated circulating follicle stimulating hormone level, Male hypogonadism... OMIM:240950
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Maternally-Inherited Diabetes And Deafness
Retinopathy, Arrhythmia, Congestive heart failure, Sensorineural hearing impairment, Cataract, Hy... ORPHA:225
Pierpont Syndrome
Abnormal cortical gyration, Uplifted earlobe, Cryptorchidism, Microcornea, Primary microcephaly, ... ORPHA:487825
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Retinal degeneration, Microphthalmia, Macular atrophy, Cystoid macular ... OMIM:267760
Microphthalmia, Syndromic 8
Cryptorchidism, Microcornea, Microcephaly, Microphthalmia OMIM:601349
Spondylo-Ocular Syndrome
Low-set ears, Cataract, Retinal detachment, Osteoporosis, Aplasia/Hypoplasia of the lens, Microph... ORPHA:85194
Perrault Syndrome 4
Primary amenorrhea, Obesity, Decreased serum estradiol, Secondary amenorrhea, Increased circulati... OMIM:615300
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Cataract OMIM:614876
Ataxia-Telangiectasia
Polycystic ovaries, Decreased circulating antibody level, Abnormality of chromosome stability, Fa... ORPHA:100
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
3-Methylglutaconic Aciduria, Type Viib
Neutropenia, Microcephaly, Cataract, Cerebral atrophy OMIM:616271
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Delayed puberty, Osteopenia, Osteoporosis, Hypogonadism OMIM:615270
Fanconi Anemia, Complementation Group S
Failure to thrive, Chromosome breakage, Ovarian neoplasm OMIM:617883
Hereditary Bullous Dystrophy, Macular Type
Cryptorchidism, Cataract, Corneal opacity, External genital hypoplasia, Microcephaly, Heart murmu... ORPHA:1867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Hypoplasia of the pons, Dandy-Walker malformation, Type II lissencep... OMIM:613154
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Osteoporosis, Male hypogonadism, Premature ovarian insufficiency, Juvenile cataract OMIM:618625
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Osteopeni... OMIM:601813
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Micro Syndrome
Optic atrophy, Cryptorchidism, Abnormality of retinal pigmentation, Cataract, Microcornea, Clitor... ORPHA:2510
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency, Failure to thrive, Mitochondrial hypertrophy OMIM:619518
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea, Abnormality of bone mineral density ORPHA:2741
Ichthyosis, X-Linked
Opacification of the corneal stroma, Cryptorchidism OMIM:308100
Warburg Micro Syndrome 4
Developmental cataract, Small scrotum, Secondary microcephaly, Cryptorchidism, Microcornea, Micro... OMIM:615663
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Microcephaly, Cataract OMIM:212540
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Hypoplasia of the corpus callosum, Retinal degeneration, Sensorineural hearing ... OMIM:619260
Microphthalmia, Syndromic 5
Anophthalmia, Cryptorchidism, Microcornea, Cataract, Optic nerve hypoplasia, Micropenis, Micropht... OMIM:610125
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Cryptorchidism, Cerebellar hypoplasia, Optic nerve hypoplasia, Retinal dysplasia, Retinal... OMIM:236670
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Galactosemia Iv
Cataract OMIM:618881
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Obesity, Gonadoblastoma, Abnormality of the uterus, S... OMIM:194072
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Sensorineural heari... ORPHA:585
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Cryptorchidism, Cataract, Hypoplasia of penis, Low-set, posteri... ORPHA:2772
Nathalie Syndrome
Abnormal EKG, Cataract, Hearing impairment OMIM:255990
Xeroderma Pigmentosum, Complementation Group B
Sensorineural hearing impairment, Cataract, Decreased nerve conduction velocity, Microcephaly, Pi... OMIM:610651
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Scheie Syndrome
Aortic valve stenosis, Corneal opacity, Retinal degeneration, Aortic regurgitation OMIM:607016
Diethylstilbestrol Syndrome
Decreased fertility in females, Epididymal cyst, Small for gestational age, Micropenis, Cryptorch... ORPHA:1916
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Eosinophilopenia
Autoimmunity OMIM:131430
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Hypoplasia of the corpus callosum, Dystonia, Sensorineural hearing impairment, ... OMIM:617248
Werner Syndrome
Retinal degeneration, Cataract, Osteoporosis, Diabetes mellitus, Hypogonadism OMIM:277700
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Obesity, Ambiguous genitalia, female, Eunuchoid habitus, Enla... ORPHA:91
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Buphthalmos OMIM:269400
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Nance-Horan Syndrome
Microcornea, Cataract, Retinal detachment, Microphthalmia, Protruding ear ORPHA:627
Sialidosis Type 1
Cherry red spot of the macula, Retinopathy, EEG abnormality, Sensorineural hearing impairment, Ca... ORPHA:812
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Agenesis of corpus callosum, Sensorineural hearing impairm... OMIM:109120
Retinitis Pigmentosa 84
Cataract, Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Secondary amenor... ORPHA:243
Galactosemia Ii
Cataract OMIM:230200
Oculopalatocerebral Syndrome
Microcephaly, Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Sanjad-Sakati Syndrome
Cryptorchidism, Astigmatism, Corneal opacity, Patchy osteosclerosis, Hypoplasia of penis, Aplasia... ORPHA:2323
22Q11.2 Deletion Syndrome
Hypothyroidism, Small earlobe, Gastrointestinal hemorrhage, Cryptorchidism, Abnormality of the ut... ORPHA:567
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Secondary ame... OMIM:300510
Norrie Disease
Abnormal vitreous humor morphology, EEG abnormality, Cryptorchidism, Erectile dysfunction, Retina... ORPHA:649
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Microcephaly, Microphthalmia, Macrotia, Thin corpus callosum OMIM:619694
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Cataract, Corneal opacity, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, D... ORPHA:496790
Flynn-Aird Syndrome
Cerebral calcification, EEG abnormality, Primary adrenal insufficiency, Cataract, Abnormality of ... ORPHA:2047
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Cerebellar hypoplasia, Cataract, Retinal detachment, Optic nerve hyp... ORPHA:370959
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Cataract ORPHA:2278
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity, Coarse metaphyseal trabecularization OMIM:618961
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cerebral atrophy, Cataract, Microcephaly, Dandy-Walker malformation, Macrotia OMIM:616154
Oculocerebral Hypopigmentation Syndrome, Cross Type
EEG abnormality, Cryptorchidism, Sensorineural hearing impairment, Cataract, Corneal opacity, Ath... ORPHA:2719
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Abnormal nerve conduction velocity, Corneal opacity, Splenomega... ORPHA:93476
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment, Delayed ossification of carpal bones OMIM:127200
Wolfram Syndrome 1
Cerebral atrophy, Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus OMIM:222300
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
3Q29 Microduplication Syndrome
Biparietal narrowing, Craniosynostosis, Low-set ears, Sclerocornea, Cataract, Microcephaly, Micro... ORPHA:251038
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Polycystic ovaries, Hyperinsulinemia, Cryptorchidism, Abnormality of retinal pigmentation, Catara... ORPHA:3085
Oculoauricular Syndrome
Developmental cataract, Morning glory anomaly, Retinal detachment, Ocular anterior segment dysgen... OMIM:612109
Pierpont Syndrome
Cryptorchidism, Microcornea, Micropenis, Microcephaly, Microphthalmia, Posteriorly rotated ears, ... OMIM:602342
Lissencephaly 8
Cataract, Microcephaly, Lissencephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus call... OMIM:617255
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Cerebellar hypoplasia, Astigmatism, Optic nerve hypoplasia, Global brain atrophy,... OMIM:301056
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Global brain atrophy, Cataract, External genital hypoplasia, Microcephaly, Hearin... OMIM:612947
Microphthalmia, Isolated, With Coloboma 9
Low-set ears, Sclerocornea, Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, ... OMIM:615145
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Prog... OMIM:609049
4H Leukodystrophy
Hypogonadotropic hypogonadism, Dystonia, Abnormality of thyroid physiology, Delayed puberty, Hype... ORPHA:289494
Nasopalpebral Lipoma-Coloboma Syndrome
Cupped ear, Low-set ears, Abnormality of cartilage of external ear, Cataract, Corneal opacity, Mi... ORPHA:2399
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Riboflavin Transporter Deficiency
Progressive hearing impairment, Abnormal cranial nerve morphology, Diabetes insipidus, Abnormal a... ORPHA:97229
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Temtamy Syndrome
Chorioretinal coloboma, Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Microphthalmia, ... ORPHA:1777
Premature Aging Syndrome, Okamoto Type
Low-set ears, Cataract, Osteoporosis, Microcephaly, Diabetes mellitus OMIM:601811
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Colpocephaly, Chordee, Agenesis of corpus callosum, Arrhythmia, Sclerocornea, Micropen... OMIM:309801
Developmental And Epileptic Encephalopathy 73
Microcephaly, Sensorineural hearing impairment, Cataract, Hypoplasia of the corpus callosum OMIM:618379
Multiple Benign Circumferential Skin Creases On Limbs
Retinopathy, Small scrotum, Congestive heart failure, Cryptorchidism, Microcornea, Low-set, poste... ORPHA:2505
Immunodeficiency 54
Adrenal insufficiency, Failure to thrive, Chromosome breakage, Adrenocorticotropic hormone excess OMIM:609981
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma, Iris coloboma, Hearing impairment ORPHA:195
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Dystonia, Cataract, Microcephaly, Microphthalmia, Hypoplasia of the corpus callosum OMIM:614105
Congenital Sialidosis Type 2
Cherry red spot of the macula, Developmental cataract, Hepatosplenomegaly, Low-set ears, Hypoplas... ORPHA:93400
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Precocious costochondral ossification OMIM:271630
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Retinitis Pigmentosa 4
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:613731
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
X-Linked Intellectual Disability, Miles-Carpenter Type
Microcornea, Hypogonadism ORPHA:85283
1Q21.1 Microduplication Syndrome
Cryptorchidism, Macrocephaly, Cataract, Hypospadias ORPHA:250994
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Abnormal sperm morphology, Infertility, Abnormal cerebral white matter morpholo... ORPHA:320391
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Low-set ears, Corneal opacity, Antecubital pterygium, Microphthalmia, Overfo... OMIM:619339
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Systemic lupus erythematosus ORPHA:444463
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Agenesis of corpus callosum, Optic atrophy, Cryptorchidism, Microcornea, C... ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Agenesis of corpus callosum, Micropenis, Cerebellar hypoplasia, Anencephal... OMIM:615287
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea, Macular dystrophy OMIM:616947
Wagr Syndrome
Cryptorchidism, Cataract, Microcephaly, Aplasia/Hypoplasia of the iris, Displacement of the ureth... ORPHA:893
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability, Microcephaly OMIM:600546
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
3-Methylglutaconic Aciduria Type 4
Cataract, Microcephaly, Cardiomyopathy, Iris hypopigmentation, Thrombocytopenia, Hearing impairment ORPHA:67048
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Lowry-Maclean Syndrome
Craniosynostosis, Osteopenia, Low-set ears, Developmental glaucoma, Aplasia/Hypoplasia of the cor... ORPHA:2409
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Coloboma, Microphthalmia, Optic atrophy OMIM:274270
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Retinal detachment, Corneal guttata, Retinal dots... OMIM:193230
Cystinosis
Retinopathy, Hypothyroidism, Portal hypertension, Type I diabetes mellitus, Corneal opacity, Neph... ORPHA:213
Bardet-Biedl Syndrome 5
Micropenis, Macular dystrophy, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism OMIM:615983
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Classic Galactosemia
Decreased fertility in females, Action tremor, Dystonia, Primary amenorrhea, Delayed puberty, Cry... ORPHA:79239
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Trichothiodystrophy 4, Nonphotosensitive