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Gene: Abi2 MGI:106913

Gene Summary

Name:

abl interactor 2

Synonyms:

8430425M24Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal cornea morphology	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.32×10^-16
increased circulating alanine transaminase level	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.32×10^-05
small testis	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal iris pigmentation	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.32×10^-18
abnormal iris morphology	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.05×10^-15
abnormal retina morphology	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.95×10^-05
absent urinary bladder	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased locomotor activity	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.95×10^-06
abnormal seminal vesicle morphology	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased prepulse inhibition	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.76×10^-06
increased fasting circulating glucose level	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.04×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

18 Images

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Immunophenotyping

Panel A FCS file(s)

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Histopathology

Images

12 Images

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Immunophenotyping

Panel B FCS file(s)

2 Images

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Human diseases caused by Abi2 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.

Human diseases associated with Abi2 (0 diseases)
Human diseases predicted to be associated with Abi2 (691 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Abi2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Cataract, Agenesis of corpus callosum	ORPHA:401830
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma...	ORPHA:500166
Schizencephaly	Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum	OMIM:269160
Tietz Albinism-Deafness Syndrome	Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Hypopigmentat...	OMIM:103500
Oliver-Mcfarlane Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of penis, Cent...	OMIM:275400
Isolated Corpus Callosum Agenesis	Bradyphrenia, Short attention span, Agenesis of corpus callosum	ORPHA:200
Chudley-Mccullough Syndrome	Hypoplasia of the corpus callosum, Polymicrogyria, Partial agenesis of the corpus callosum, Dyspl...	OMIM:604213
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia, Coloboma	OMIM:251505
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Thin corpus callosum, Cortical dysplasia, Dysgenesis of the basal ganglia, Subcor...	OMIM:615771
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebral atrophy, Microphthalmia, Microcornea, Microcephaly, Simplified gyral pattern, Cataract, ...	OMIM:616171
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplasia	OMIM:606574
Oculocutaneous Albinism Type 6	Abnormal foveal morphology on macular OCT, Abnormal fundus morphology, Abnormal iris pigmentation...	ORPHA:370097
Adult-Onset Foveomacular Vitelliform Dystrophy	Choroideremia, Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions	ORPHA:99000
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Mucolipidosis Iv	Dysplastic corpus callosum, Cerebral dysmyelination, Corneal opacity, Microcephaly, Progressive n...	OMIM:252650
Cataract 9, Multiple Types	Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Cataract 11, Multiple Types	Cataract, Microphthalmia, Developmental cataract	OMIM:610623
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin, Chorioreti...	OMIM:619165
Dihydropyrimidine Dehydrogenase Deficiency	Cerebral atrophy, Microphthalmia, Coloboma, Microcephaly, Agenesis of corpus callosum	OMIM:274270
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	OMIM:619947
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti...	OMIM:614039
Microphthalmia/Coloboma 3	Cataract, Microphthalmia, Iris coloboma	OMIM:610092
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Secondary microcephaly, Dysplastic corpus callosum, Reduced cerebral white matter volume, Hyperin...	OMIM:620317
Spastic Paraplegia 45, Autosomal Recessive	Hypoplasia of the corpus callosum, Dysplastic corpus callosum	OMIM:613162
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Hyperlipidemia, Retinopathy, Iris hypopigmentation, Ataxia...	ORPHA:79476
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Microphthalmia, Agenesis of corpus callosum	OMIM:616570
Congenital Varicella Syndrome	Microcephaly, Microphthalmia, Cerebral cortical atrophy, Cataract	ORPHA:291
Bilateral Acute Depigmentation Of The Iris	Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe...	ORPHA:69736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Type II lissencephaly, Agyria, Corneal opacity, Coloboma, Cataract, Abnormal cere...	OMIM:613153
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Colpocephaly, Agenesis of cor...	ORPHA:250972
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Iris coloboma	OMIM:616428
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, Microcornea, Microcephaly, Sclerocornea, Chorioretinal coloboma, Ag...	ORPHA:139471
Microcephaly 5, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Cortical dysplasia, Small cerebral cortex, Microcephaly, Simpl...	OMIM:608716
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, Microcornea, Microphthalmia, Cataract	ORPHA:2528
Sub-Cortical Nodular Heterotopia	Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal basal ganglia morphology, Agenesis of...	ORPHA:101029
Oculocutaneous Albinism Type 1	Optic nerve misrouting, Iris transillumination defect, Abnormal morphology of the choroidal vascu...	ORPHA:352731
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Neovascular Glaucoma	Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal...	ORPHA:94058
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Hypoplasia of the corpus callosum, Polymicrogyria, Microcephaly, Unilateral polymicrogyria, Agene...	OMIM:610031
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, 3-Methylglutaconic aciduria, Hypoglycemia, Cataract	ORPHA:67048
Usher Syndrome Type 3	Cataract, Iris hypopigmentation, Astigmatism, Ataxia	ORPHA:231183
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Microphthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:120433
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia, Agenesis of corpus callosum, Lissencephaly, Absent septum...	OMIM:218670
Warburg Micro Syndrome 1	Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Microcornea, Microcephaly, P...	OMIM:600118
Microphthalmia/Coloboma 7	Microphthalmia, Inferior chorioretinal coloboma, Iris coloboma	OMIM:614497
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Xeroderma Pigmentosum, Complementation Group G	Microcephaly, Microphthalmia, Cataract	OMIM:278780
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Optic atrophy, Hypoplasia of the fovea, Iris cyst	OMIM:620086
Lissencephaly 4	Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lissencephaly, Primary micro...	OMIM:614019
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Corpus Callosum, Agenesis Of	Microcephaly, Agenesis of corpus callosum	OMIM:217990
Prader-Willi Syndrome Due To Imprinting Mutation	External genital hypoplasia, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopig...	ORPHA:177910
Late-Onset Retinal Degeneration	Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina...	ORPHA:67042
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Atax...	OMIM:277580
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Primary microcephaly, Agenesis of corpus callosum	ORPHA:171703
Phenylketonuria	Increased level of hippuric acid in urine, Generalized hypopigmentation, Hyperphenylalaninemia, E...	OMIM:261600
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the fovea, Hypopi...	OMIM:203200
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Microcephaly, Dysplastic corpus callosum	OMIM:618276
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe, Progressive microcephaly, Type II lissencephaly, Agyria, ...	OMIM:615249
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Foveal Hypoplasia 2	Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea	OMIM:609218
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:611638
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613265
Riboflavin Transporter Deficiency	Diabetes insipidus, Abnormality of macular pigmentation, Iris hypopigmentation, Ataxia, Hypogonad...	ORPHA:97229
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the corpus callosum, Cavum septum pellucidum, Polymicrogyria, Cortical dysplasia, A...	ORPHA:300573
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, Lissencephaly	ORPHA:1528
Martsolf Syndrome 2	Hypoplasia of the corpus callosum, Microcephaly, Developmental cataract, Lateral ventricle dilata...	OMIM:619420
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Simplified gyral pattern, Agen...	OMIM:618492
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Microphthalmia, Coloboma, Peters anomaly, Iris coloboma	OMIM:610023
Microphthalmia, Syndromic 13	Microphthalmia, Microcornea, Microcephaly, Chorioretinal coloboma, Iris coloboma	OMIM:300915
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Joubert Syndrome 23	Dysplastic corpus callosum, Coloboma	OMIM:616490
X-Linked Recessive Ocular Albinism	Astigmatism, Giant melanosomes in melanocytes, Iris hypopigmentation, Hypoplasia of the fovea, Fr...	ORPHA:54
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Usher Syndrome Type 1	Cataract, Iris hypopigmentation, Ataxia	ORPHA:231169
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Microphthalmia, Type II lissencephaly, Coloboma, Developmenta...	ORPHA:324416
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Microphthalmia, Agenesis of corpus callosum	ORPHA:93267
Temtamy Syndrome	Microphthalmia, Lens luxation, Ectopia lentis, Chorioretinal coloboma, Agenesis of corpus callosu...	OMIM:218340
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Lissencephaly Due To Tuba1A Mutation	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hypoplastic anteri...	ORPHA:171680
Microcephaly 10, Primary, Autosomal Recessive	Cerebral atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Agenesis of cor...	OMIM:615095
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum	OMIM:166990
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma, Cataract, Iris co...	ORPHA:1473
Methionine Malabsorption Syndrome	White hair, Positive ferric chloride test, Blue irides, Aminoaciduria	OMIM:250900
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Hypospadias, Cryptorchidism, Congenital hypothyroidism, Diabetes mellitus, Blue irides,...	OMIM:614613
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microcephaly, Microphthalmia	OMIM:616335
Weiss-Kruszka Syndrome	Dysplastic corpus callosum	ORPHA:502430
Microphthalmia/Coloboma 6	Bilateral microphthalmos, Coloboma, Optic disc hypoplasia, Hypoplasia of the fovea	OMIM:613703
Tonne-Kalscheuer Syndrome	Hypospadias, Broad-based gait, Decreased testicular size, Micropenis, Cryptorchidism, Blue irides	OMIM:300978
Autosomal Dominant Keratitis	Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr...	ORPHA:2334
2Q24 Microdeletion Syndrome	Abnormality iris morphology, Coloboma, Microphthalmia, Cataract	ORPHA:1617
Frontonasal Dysplasia 1	Microphthalmia, Coloboma, Cataract, Agenesis of corpus callosum, Pericallosal lipoma	OMIM:136760
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cerebral atrophy, Microphthalmia, Microcephaly, Simplified gyral pattern, Pachygyria, Cataract	OMIM:251270
Gombo Syndrome	Microcephaly, Microphthalmia	OMIM:233270
Ermine Phenotype	White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Oculocutaneous Albinism Type 4	Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ...	ORPHA:79435
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hypopigmentation, ...	ORPHA:411515
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Microphthalmia, Polymicrogyria, Optic nerve hypoplasia, Microcephaly,...	OMIM:614833
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Microphthalmia, Polymicrogyria, Retinal coloboma, Pachygyria, Iris co...	ORPHA:2328
Even-Plus Syndrome	Dysplastic corpus callosum, Cataract, Agenesis of corpus callosum	OMIM:616854
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Optic d...	ORPHA:263479
Cofs Syndrome	Microphthalmia, Cerebral calcification, Microcephaly, Cerebral cortical atrophy, Cataract	ORPHA:1466
Woolly Hair Nevus	Precocious puberty, Persistent pupillary membrane, Heterochromia iridis, Patchy hypopigmentation ...	ORPHA:79414
Lissencephaly 8	Hypoplasia of the corpus callosum, Microphthalmia, Polymicrogyria, Type II lissencephaly, Agyria,...	OMIM:617255
Oculocutaneous Albinism Type 2	Optic nerve misrouting, Macular hypopigmentation, Iris transillumination defect, Hypopigmentation...	ORPHA:79432
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	External genital hypoplasia, Decreased testicular size, Cafe-au-lait spot, Unsteady gait, Micrope...	ORPHA:3041
Free Sialic Acid Storage Disease	Athetosis, Gait disturbance, Nephrotic syndrome, Abnormality of skin pigmentation, Iris hypopigme...	ORPHA:834
Baraitser-Winter Syndrome 2	Secondary microcephaly, Microphthalmia, Coloboma, Pachygyria, Agenesis of corpus callosum, Lissen...	OMIM:614583
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microphthalmia, Microcornea, Remnants of the hyaloid vascular system, Chori...	ORPHA:231736
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of corpus callosum	OMIM:614402
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Heterochromia ...	ORPHA:2885
Anterior Segment Dysgenesis 5	Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Oculocerebrocutaneous Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of corpus callosum, Anophthalmia	OMIM:164180
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology	ORPHA:1390
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Agenesis of corpus callosum, Iris coloboma	ORPHA:1553
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Hypoplastic iris st...	OMIM:193510
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Coloboma, Corneal opacity, Congenital aphakia, Anterior se...	OMIM:610256
Intellectual Developmental Disorder, Autosomal Recessive 38	Unsteady gait, Blue irides	OMIM:615516
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Clitoral hypertrophy, Polycystic kidney dysplasia, Hypoplasia of the thymu...	OMIM:214110
Adams-Oliver Syndrome 2	Cerebral atrophy, Microphthalmia, Polymicrogyria, Microcephaly, Developmental cataract, Lateral v...	OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Hypoplasia of the corpus callosum, Microphthalmia, Thin corpus callosum, Microcephaly, Lateral ve...	OMIM:614105
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Abnormality iris morphology, Polymicrogyria, Type II lissencephaly, Coloboma, Opt...	ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly, Developmental cataract, Focal co...	OMIM:613155
Deafness-Hypogonadism Syndrome	Congenital stationary night blindness, Delayed puberty, Abnormal spermatogenesis, Heterochromia i...	ORPHA:90646
Oculocutaneous Albinism Type 3	Optic nerve misrouting, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyel...	ORPHA:79433
Zellweger Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Clitoral hypertrophy, Hypospadias, Corneal opac...	ORPHA:912
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Microcornea,...	ORPHA:3214
Microphthalmia, Isolated 5	Cataract, Microphthalmia	OMIM:611040
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy, Latera...	ORPHA:77299
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Optic disc hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus...	OMIM:619955
Neuhauser Syndrome	Corneal arcus, Iris transillumination defect, Iridodonesis, Retinal detachment, Primary hypothyro...	OMIM:249310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Polymicrogyria, Type II lissencephaly, Optic nerve hypoplasia, Cataract, Leukoenc...	OMIM:615181
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Thin corpus callosum, Astigmatism, Microcephaly, Cataract	OMIM:619694
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Microcephaly, Diffuse cerebral atrophy, Basal ganglia calcification, Agenesis of ...	OMIM:214150
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Sclerocornea, Agenesis of corpus callosum, Iris coloboma	ORPHA:77298
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Microphthalmia, Microlissencephaly, Optic nerve hypoplasia, Sm...	OMIM:617914
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Microcornea, Cerebral cortical atrophy, Cataract, Hyperintensity of cerebral whit...	ORPHA:48431
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hypopigmentation of hair, I...	ORPHA:999
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Athetosis, Corneal opacity, Ureteral stenosis, Choroideremia, Iris hypo...	ORPHA:2719
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con...	OMIM:180550
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Microphthalmia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:300887
Cataract 21, Multiple Types	Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ...	OMIM:610202
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir...	ORPHA:895
Spondylo-Ocular Syndrome	Retinal detachment, Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens	ORPHA:85194
Kennedy Disease	Abnormal circulating lipid concentration, Erectile dysfunction, Gait disturbance, Type II diabete...	ORPHA:481
Hermansky-Pudlak Syndrome 8	Iris transillumination defect, Astigmatism, Myopic astigmatism, Silver-gray hair, Generalized hyp...	OMIM:614077
Walker-Warburg Syndrome	Microphthalmia, Abnormal cortical gyration, Anophthalmia, Polymicrogyria, Microcornea, Corneal op...	ORPHA:899
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c...	OMIM:217300
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ...	ORPHA:98754
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79434
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Microphthalmia, Retinal coloboma	OMIM:601794
Hermansky-Pudlak Syndrome 11	Iris transillumination defect, Menorrhagia, Hypoplasia of the fovea, Melanocytic nevus, Albinism,...	OMIM:619172
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Microphthalmia, Retinal coloboma	ORPHA:363741
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ...	ORPHA:98793
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Microphthalmia, Syndromic 16	Microphthalmia, Sclerocornea, Anophthalmia	OMIM:611038
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ...	ORPHA:177904
Temtamy Syndrome	Aplasia/Hypoplasia of the corpus callosum, Microphthalmia, Chorioretinal coloboma, Iris coloboma	ORPHA:1777
Microphthalmia, Isolated 4	Coloboma, Microphthalmia	OMIM:613094
Waardenburg Syndrome, Type 3	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, White forelock, Blue...	OMIM:148820
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ...	ORPHA:177901
Waardenburg Syndrome, Type 2E	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir...	OMIM:611584
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the corpus callosum, Microphthalmia, Cortical dysplasia, Porencephalic cyst, Hypopl...	OMIM:613001
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Hypoplasia of the corpus callosum, Lissencephaly, Agenesis of corpus callosum	OMIM:619466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hypoplasia of the corpus callosum, Microphthalmia, Polymicrogyria, Type II lissencephaly, Agyria,...	OMIM:614643
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Lacrimal gland hypoplasia, Heterochromia i...	OMIM:613266
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Secondary microcephaly, Microphthalmia, Cataract	OMIM:613730
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Developmental cataract, Focal white matter lesions	ORPHA:557003
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79431
Combined Oxidative Phosphorylation Deficiency 54	Secondary microcephaly, Memory impairment, Periventricular white matter hyperintensities, Dysplas...	OMIM:619737
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Microcornea, Septo-optic dysplasia, Agenesis of corpus callosum, Cataract, Iris c...	ORPHA:3301
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Microcephaly, Atte...	OMIM:152950
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Menorrhagia, Hypoplasia of the fovea, Metrorrhagia, Albinism, Ocul...	OMIM:614074
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Corneal scarring, Chorioretinal coloboma, Cataract, Buphthalmos, Iris coloboma	OMIM:212550
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Iris hypopigmentation, Parti...	ORPHA:79477
Proteus-Like Syndrome	Irregular hyperpigmentation, Retinal detachment, Heterochromia iridis, Cataract, Abnormal pupil m...	ORPHA:2969
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Lateral ventricle dilatation, Lens coloboma	OMIM:618914
Cat-Eye Syndrome	Microphthalmia, Chorioretinal coloboma, Iris coloboma	ORPHA:195
Band Heterotopia	Subcortical band heterotopia, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dila...	OMIM:600348
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Developmental cataract	OMIM:618810
Baraitser-Winter Syndrome 1	Microphthalmia, Microcephaly, Chorioretinal coloboma, Pachygyria, Agenesis of corpus callosum, Li...	OMIM:243310
Peroxisome Biogenesis Disorder 1A (Zellweger)	Clitoral hypertrophy, Hypospadias, Adrenal hypoplasia, Elevated circulating long chain fatty acid...	OMIM:214100
Griscelli Syndrome	Premature graying of hair, Hypopigmented skin patches, Abnormal circulating lipid concentration, ...	ORPHA:381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Type II lissencephaly, Persistent pupillary membrane, Microcephaly, Pachygyria, A...	OMIM:613150
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Microcornea, Microcephaly, Cerebral cortical atrophy, Partial agenesis of the cor...	OMIM:234050
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Optic atrophy, Clitoral hypertrophy, Increased circulating very long-chain...	OMIM:614866
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia, Microcornea, Microcephaly, Sclerocornea, Agenesis of corp...	OMIM:243605
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Angelman Syndrome	Optic atrophy, Astigmatism, Precocious puberty in females, Inability to walk, Broad-based gait, K...	ORPHA:72
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Hydronephrosi...	OMIM:222300
Frontofacionasal Dysplasia	Microcornea, Brushfield spots, Cataract, Limbal dermoid, Iris coloboma	ORPHA:1791
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Microphthalmia, Syndromic 8	Microcephaly, Microcornea, Microphthalmia	OMIM:601349
Norrie Disease	Microphthalmia, Buphthalmos, Dementia, Corneal opacity, Hypoplasia of the iris, Shallow anterior ...	OMIM:310600
Congenital Microcoria	Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris...	ORPHA:566
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebral atrophy, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Dysplastic cor...	OMIM:616900
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hy...	ORPHA:98795
Angelman Syndrome Due To A Point Mutation	Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hy...	ORPHA:411511
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corp...	OMIM:609053
Exfoliation Syndrome	Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in...	OMIM:177650
Acrofrontofacionasal Dysostosis	Hypopigmented skin patches, Bifid scrotum, Hypospadias, Brushfield spots	ORPHA:1784
Oculocerebral Hypopigmentation Syndrome, Preus Type	Generalized hypopigmentation, White hair, Iris hypopigmentation, Ataxia, Cataract, Ocular albinism	ORPHA:2720
Diabetes And Deafness, Maternally Inherited	Unsteady gait, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration, Pigmentary retinop...	OMIM:520000
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Pierpont Syndrome	Microcornea, Abnormal cortical gyration, Primary microcephaly, Microphthalmia	ORPHA:487825
Albinism, Oculocutaneous, Type Ia	Blue irides, Astigmatism, Hypopigmentation of hair, White hair, Hypoplasia of the fovea, Albinism...	OMIM:203100
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocornea, Cataract, Cryptorchidism	ORPHA:284160
Cerebrooculofacioskeletal Syndrome 2	Microcephaly, Microphthalmia, Developmental cataract, Cataract	OMIM:610756
Familial Dysautonomia	Optic atrophy, Corneal erosion, Corneal opacity, Heterochromia iridis, Gait disturbance, Hyponatr...	ORPHA:1764
Usher Syndrome Type 2	Cataract, Iris hypopigmentation, Ataxia	ORPHA:231178
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme...	ORPHA:83461
Autosomal Recessive Cutis Laxa Type 2A	Secondary microcephaly, Dysplastic corpus callosum, Thick cerebral cortex, Pachygyria, Abnormal c...	ORPHA:357058
Familial Congenital Mirror Movements	Abnormal corticospinal tract morphology, Agenesis of corpus callosum	ORPHA:238722
Linear Skin Defects With Multiple Congenital Anomalies 3	Agenesis of corpus callosum, Microphthalmia, Sclerocornea, Lateral ventricle dilatation	OMIM:300952
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cavum septum pellucidum, Mic...	OMIM:616449
Septooptic Dysplasia	Absent septum pellucidum, Optic nerve hypoplasia, Optic disc hypoplasia, Agenesis of corpus callosum	OMIM:182230
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Hyaloid vascular remnant and retrolental mass, Microcornea, Corneal opacity, Pers...	ORPHA:91495
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Elevated circulating thyroid-stimulating hormone concentration, Elevated circulati...	OMIM:101800
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Microphthalmia, Cavum septum pellucidum, Microcornea, Coloboma, Ca...	OMIM:617306
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Astigmatism, Renal insufficiency, Attenuation of retinal...	OMIM:615986
Microphthalmia, Syndromic 3	Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Coloboma...	OMIM:206900
Edinburgh Malformation Syndrome	Brushfield spots	ORPHA:1895
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Anterior Segment Dysgenesis 3	Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e...	OMIM:601631
Knobloch Syndrome 1	Iris transillumination defect, Retinal detachment, Band keratopathy, Chorioretinal atrophy, Vitre...	OMIM:267750
Congenital Rubella Syndrome	Microphthalmia, Corneal opacity, Microcephaly, Cataract, Aplasia/Hypoplasia of the iris	ORPHA:290
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Retinal thinning, Hyperglycemia, Ataxia, Optic disc pallor	OMIM:618970
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Facial Clefting, Oblique, 1	Coloboma, Microphthalmia	OMIM:600251
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal...	OMIM:221900
Albinism-Deafness Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom...	ORPHA:998
Pontocerebellar Hypoplasia Type 2	Hypoplasia of the corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Dysplast...	ORPHA:2524
Nanophthalmos	Microphthalmia	ORPHA:35612
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop...	ORPHA:1067
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Polymicrogyria, Type II lissencephaly, Agyria, Hypoplasia of the pyramidal tract,...	OMIM:253800
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Nance-Horan Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:627
Noonan Syndrome 13	Cafe-au-lait spot, Multiple lentigines, Cryptorchidism, Blue irides	OMIM:619087
Waardenburg Syndrome, Type 1	Premature graying of hair, Aplasia of the vagina, Heterochromia iridis, Hypoplastic iris stroma, ...	OMIM:193500
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Hypoplasia of the corpus callosum, Microphthalmia, Polymicrogyria, Type II lissencephaly, Agyria,...	OMIM:236670
Glycosylphosphatidylinositol Biosynthesis Defect 17	Microcephaly, Dysplastic corpus callosum	OMIM:618010
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Noonan Syndrome 4	Ureteral duplication, Blue irides, Hydronephrosis, Cryptorchidism	OMIM:610733
Pierpont Syndrome	Microcephaly, Microcornea, Microphthalmia	OMIM:602342
Warburg Micro Syndrome 3	Secondary microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Polymicrogyria, Microc...	OMIM:614222
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Phacoanaphylactic Uveitis	Cystoid macular edema, Corneal keratic precipitates, Anterior uveitis, Panuveitis, Pseudophakia, ...	ORPHA:209959
Angelman Syndrome	Broad-based gait, Hypopigmentation of the skin, Ataxia, Progressive gait ataxia, Blue irides, Fai...	OMIM:105830
Microphthalmia/Coloboma 12	Microphthalmia, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Ch...	OMIM:120200
Sturge-Weber Syndrome	Optic atrophy, Retinal detachment, Corneal dystrophy, Heterochromia iridis, Conjunctival telangie...	ORPHA:3205
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Microcephaly, Simplified gyral pattern, Dysplastic corpus callosum	OMIM:620001
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Microphthalmia	OMIM:618805
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Coloboma, Cataract	OMIM:610125
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme...	ORPHA:98973
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hy...	ORPHA:98794
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Microcephaly, Colpocephaly, Sclerocornea, Agenesis of corpus callosum, Cataract, ...	OMIM:309801
Charcot-Marie-Tooth Disease Type 1B	Elevated circulating creatine kinase concentration, Abnormal pupil morphology	ORPHA:101082
Hermansky-Pudlak Syndrome	Astigmatism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphol...	ORPHA:79430
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret...	OMIM:612109
Microphthalmia/Coloboma 9	Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Sclerocornea, ...	OMIM:615145
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven...	OMIM:172800
Joubert Syndrome 22	Hypoplasia of the corpus callosum, Coloboma, Microphthalmia, Temporal cortical atrophy	OMIM:615665
Mmep Syndrome	Microcephaly, Microphthalmia	ORPHA:3434
Neurooculocardiogenitourinary Syndrome	Secondary microcephaly, Coloboma, Peters anomaly, Microphthalmia	OMIM:618652
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas...	OMIM:106210
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormally prominent line of Schwalbe, Rieger anomaly, Agenesis of corpus callosum	OMIM:109120
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Polymicrogyria, Coloboma, Microphthalmia	OMIM:612379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hypoplasia of the corpus callosum, Microphthalmia, Cerebral calcification, Polymicrogyria, Agyria...	OMIM:616538
Wyburn-Mason Syndrome	Iris hypopigmentation, Retinal vascular malformation	ORPHA:53719
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Gait disturbance, Giant...	OMIM:214500
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Microphthalmia, Mental deterioration, Microcephaly, Keratitis, Conjun...	OMIM:278730
Albinism, Ocular, Type I	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism	OMIM:300500
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Dementia, Neurofibrillary tangles, Cerebral amyloid angiopathy, Posterior polar cataract	OMIM:117300
Hermansky-Pudlak Syndrome 6	Iris transillumination defect, Urinary incontinence, Endometriosis, Neurogenic bladder, Perineal ...	OMIM:614075
Nanophthalmos 4	Microphthalmia	OMIM:615972
Hydrolethalus	Microphthalmia, Anencephaly, Anophthalmia, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Warburg Micro Syndrome 2	Secondary microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Polymicrogyria, Microc...	OMIM:614225
Otodental Syndrome	Microphthalmia, Microcornea, Retinal coloboma, Lens coloboma, Cataract, Iris coloboma	ORPHA:2791
1Q21.1 Microdeletion Syndrome	Microphthalmia, Microcephaly, Attention deficit hyperactivity disorder, Agenesis of corpus callos...	ORPHA:250989
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Microcephaly, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Chorioretinal ...	OMIM:615219
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Microcephaly, Dysplastic corpus callosum	OMIM:604273
Curry-Jones Syndrome	Microphthalmia, Megalencephaly, Polymicrogyria, Hemimegalencephaly, Agenesis of corpus callosum, ...	OMIM:601707
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Microcephaly, Sclerocornea, Agenesi...	ORPHA:42775
Rere-Related Neurodevelopmental Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Astigmatism, Chorioretinal coloboma, Attention...	ORPHA:494344
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium	OMIM:619339
Oculocutaneous Albinism Type 5	Abnormal fundus morphology, Hypoplasia of the fovea, Ocular albinism	ORPHA:370091
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, White hair, Hete...	ORPHA:894
Juvenile Glaucoma	Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal arterial occlusion, Abn...	ORPHA:98977
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Warburg Micro Syndrome 4	Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Microcornea, Cerebral ...	OMIM:615663
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Progressive microcephaly, Multifoc...	ORPHA:488627
Biemond Syndrome Type 2	Coloboma, Microphthalmia	ORPHA:141333
Myopathy, Tubular Aggregate, 1	Elevated circulating creatine kinase concentration, Abnormal pupil morphology	OMIM:160565
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca	ORPHA:1806
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Glucose intolerance, Azoospermia, Hyperpigmentation...	OMIM:235200
Spinocerebellar Ataxia 32	Infertility, Ataxia, Testicular atrophy, Azoospermia	OMIM:613909
Congenital Toxoplasmosis	Microcephaly, Cerebral calcification, Microphthalmia, Cognitive impairment	ORPHA:858
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Coloboma, Corneal opacity, Microcephaly, Conjunctival h...	ORPHA:2399
Nail-Patella Syndrome	Tip-toe gait, Hematuria, Nephrotic syndrome, Nephritis, Primary congenital glaucoma, Proteinuria,...	ORPHA:2614
Oculopalatocerebral Syndrome	Microcephaly, Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Spinocerebellar Ataxia Type 32	Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia	ORPHA:276183
Woolly Hair	Cataract, Abnormal pupil morphology, Hypopigmentation of hair, Abnormal retinal morphology	ORPHA:170
Hec Syndrome	Developmental cataract, Abnormal pupil morphology, Abnormal retinal vascular morphology, Vaginal ...	ORPHA:2119
Sandestig-Stefanova Syndrome	Hypoplasia of the corpus callosum, Developmental cataract, Microphthalmia, Primary microcephaly	OMIM:618804
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Abnormality of iron homeostasis, Erectile dysfuncti...	ORPHA:465508
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Decreased fertility, Testicular atrophy	OMIM:313200
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal vagina ...	ORPHA:3440
Micro Syndrome	Microphthalmia, Microcornea, Retinal coloboma, Microcephaly, Cerebral cortical atrophy, Pachygyri...	ORPHA:2510
Vitreoretinochoroidopathy	Microcornea, Microphthalmia, Developmental cataract, Pulverulent cataract	OMIM:193220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Microphthalmia	OMIM:614830
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Abnormal corneal endothelium morphology, Bone spic...	ORPHA:364055
Koolen-De Vries Syndrome	Vesicoureteral reflux, Iris hypopigmentation, Hydronephrosis, Cataract, Cryptorchidism, Fair hair	OMIM:610443
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Agenesis of corpus callosum, Corticospinal tract hypoplasia	OMIM:307000
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Microphthalmia, Optic disc coloboma, Iris coloboma	OMIM:169550
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Frontal cortical atrophy, Remnants of the hyaloid vascular system, Microcephaly, ...	ORPHA:2714
Trisomy 13	Microphthalmia, Anophthalmia, Cognitive impairment, Cataract, Aplasia/Hypoplasia of the iris, Iri...	ORPHA:3378
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Agenesis of corpus callosum	ORPHA:228390
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cataract, Microphthalmia	OMIM:301108
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Precocious puberty, Hyp...	OMIM:262190
Mody	Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Pancreatic ...	ORPHA:552
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Inability to walk, Hypopigmentation of hair, Hypoproteinemia, Hypopigmentat...	ORPHA:167
Combined Oxidative Phosphorylation Deficiency 53	Secondary microcephaly, Dysplastic corpus callosum	OMIM:619423
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Microcephaly, Attention deficit hyperactivity disorder, Focal polymic...	OMIM:619103
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Microcornea, Heterochromia iridis, Retinoschisis, Hydronephrosis, Optic disc colobom...	ORPHA:2995
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cavum septum pellucidum, Mic...	ORPHA:464738
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Microcornea, Coloboma, Sclerocornea, Ectopia pupillae, Cataract	OMIM:615877
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Transverse vaginal septum, Blue irides, Decreased response to growth hormone stimulation test, Ab...	OMIM:604292
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly, Simplified gyral pat...	OMIM:619179
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the fundus, Hypopigmentation of the skin, Ocular albinism	OMIM:614171
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Microcephaly, Sclerocornea, Cataract, Iris coloboma	ORPHA:251038
Mycophenolate Mofetil Embryopathy	Microphthalmia, Chorioretinal coloboma, Agenesis of corpus callosum, Iris coloboma	ORPHA:268249
Hermansky-Pudlak Syndrome 4	Menorrhagia, Albinism, Hypoplasia of the fovea, Ocular albinism	OMIM:614073
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypoproteinemia, Retina...	OMIM:609049
Nance-Horan Syndrome	Microcornea, Posterior Y-sutural cataract, Developmental cataract, Microphthalmia	OMIM:302350
Microphthalmia, Lenz Type	Microphthalmia, Microcornea, Microcephaly, Chorioretinal coloboma, Optic disc coloboma, Cataract,...	ORPHA:568
Bresek Syndrome	Microcephaly, Optic nerve hypoplasia, Microphthalmia, Iris coloboma	ORPHA:85284
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polymicrogyria, Microphthalmia, Megalencephaly, Cavum septum pellucidum	OMIM:602501
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos	OMIM:251750
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete...	OMIM:604367
Fanconi Anemia, Complementation Group G	Microcephaly, Microphthalmia	OMIM:614082
Albinism-Deafness Syndrome	Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism	OMIM:300700
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, External genital hypoplasia, Hypopigmentat...	ORPHA:177907
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Microphthalmia, Cataract, Agenesis of corpus callosum	ORPHA:306542
Myotonic Dystrophy 1	Testicular atrophy, Cataract, Cholelithiasis, Hypogonadism	OMIM:160900
Short Syndrome	Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Xk Aprosencephaly Syndrome	Microcephaly, Microphthalmia	ORPHA:3469
Duane Retraction Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Optic disc hypoplasia, Ectopic kidney, A...	ORPHA:233
Kapur-Toriello Syndrome	Microphthalmia, Polymicrogyria, Retinal coloboma, Pachygyria, Cataract, Iris coloboma	OMIM:244300
Nail-Patella Syndrome	Microphakia, Hematuria, Keratoconus, Microcornea, Nephrotic syndrome, Antecubital pterygium, Prot...	OMIM:161200
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Transverse vaginal septum, Blue irides, Decreased response to growth hormone stimulation test, Ab...	OMIM:129900
Frontorhiny	Microphthalmia, Cataract, Pericallosal lipoma, Aplasia/Hypoplasia of the corpus callosum, Iris co...	ORPHA:391474
Neurofibromatosis Type 1	Hypopigmented skin patches, Inguinal freckling, Delayed puberty, Abnormality of the endocrine sys...	ORPHA:636
Oculogastrointestinal Neurodevelopmental Syndrome	Microcephaly, Unilateral microphthalmos, Coloboma, Bilateral microphthalmos	OMIM:619318
Familial Exudative Vitreoretinopathy	Microcephaly, Microphthalmia, Cataract	ORPHA:891
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Attention deficit hyperactivity disorde...	ORPHA:544488
Traboulsi Syndrome	Microphthalmia, Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chambe...	OMIM:601552
Oculofaciocardiodental Syndrome	Microphthalmia, Microcornea, Ectopia lentis, Cataract, Iris coloboma	ORPHA:2712
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Retinoblastoma	Hypopyon, Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hetero...	ORPHA:790
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Coloboma, Microphthalmia	OMIM:167730
Trichothiodystrophy 3, Photosensitive	Cataract, Microphthalmia, Developmental cataract	OMIM:616395
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Cryptorchidism, Hypergonadotropic hypogonadism	ORPHA:250999
Mosaic Trisomy 1	Microphthalmia, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation, Opacif...	ORPHA:1692
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Corneal opacity, Nephrocalcinosis,...	ORPHA:904
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Microphthalmia	ORPHA:163649
Xeroderma Pigmentosum, Complementation Group B	Microcephaly, Microphthalmia, Basal ganglia calcification, Cataract	OMIM:610651
Chromosome 13Q14 Deletion Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Chorioretinal coloboma, Agenesis of corpus cal...	OMIM:613884
Combined Oxidative Phosphorylation Deficiency 12	Hypoplasia of the corpus callosum, Leukoencephalopathy, Agenesis of corpus callosum, Dysplastic c...	OMIM:614924
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Juvenile Xanthogranuloma	Iritis, Uveitis, Multiple cafe-au-lait spots, Asymmetry of iris pigmentation	ORPHA:158000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, Heterochromia iridis, White forelock, Ataxia, White eyelashes, White ...	OMIM:609136
Megalocornea-Intellectual Disability Syndrome	Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Megalocornea, Hypoplasia of the ...	ORPHA:2479
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Aicardi Syndrome	Microphthalmia, Cavum septum pellucidum, Polymicrogyria, Microcephaly, Pachygyria, Lateral ventri...	OMIM:304050
Fryns Syndrome	Cerebral cortical atrophy, Microphthalmia, Corneal opacity, Agenesis of corpus callosum	ORPHA:2059
Hartsfield Syndrome	Aplasia/Hypoplasia of the corpus callosum, Microphthalmia	ORPHA:2117
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Microphthalmia, Astigmatism, Retinal coloboma	OMIM:618571
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma	OMIM:615113
Developmental And Epileptic Encephalopathy 49	Microcephaly, Cerebral calcification, Basal ganglia calcification, Dysplastic corpus callosum	OMIM:617281
Congenital Fibrinogen Deficiency	Microphthalmia, Developmental cataract	ORPHA:335
Hermansky-Pudlak Syndrome 7	Menorrhagia, Albinism, Ocular albinism	OMIM:614076
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:163746
Marden-Walker Syndrome	Microcephaly, Microphthalmia, Agenesis of corpus callosum	OMIM:248700
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy, Iris atrophy	OMIM:620422
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ...	OMIM:616329
Pseudotrisomy 13 Syndrome	Cyclopia, Microphthalmia, Polymicrogyria, Microcephaly, Agenesis of corpus callosum	OMIM:264480
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Developmental And Epileptic Encephalopathy 1	Microcephaly, Microphthalmia	OMIM:308350
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Refsum Disease	Cataract, Microphthalmia	ORPHA:773
Meckel Syndrome, Type 8	Microcephaly, Microphthalmia, Anophthalmia	OMIM:613885
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:618569
Genitourinary And/Or Brain Malformation Syndrome	Secondary microcephaly, Dysplastic corpus callosum, Astigmatism, Polymicrogyria, Colpocephaly, Ag...	OMIM:618820
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Microphthalmia, Astigmatism, Ectopia pupillae	OMIM:618727
Histiocytoid Cardiomyopathy	Microphthalmia, Corneal opacity, Megalocornea, Congenital aphakia, Agenesis of corpus callosum	ORPHA:137675
Weill-Marchesani Syndrome 4	Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ...	OMIM:613195
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria...	OMIM:619649
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Bradykinesia, Premature ovarian insufficiency, Secondary amenorrhea, Gait ataxia, Hypergonadotrop...	OMIM:157640
Stevenson-Carey Syndrome	Hypoplasia of the corpus callosum, Coloboma, Microphthalmia	OMIM:611961
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ...	OMIM:618858
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Renal insuff...	OMIM:203300
Seckel Syndrome 2	Microcephaly, Microphthalmia, Primary microcephaly, Basal ganglia calcification	OMIM:606744
Vici Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Elevated circulating creatine kinase conc...	OMIM:242840
Solitary Median Maxillary Central Incisor	Cyclopia, Microphthalmia, Anophthalmia, Coloboma, Microcephaly	OMIM:147250
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Abnormal circulating fatty-acid co...	ORPHA:2298
Trisomy 8P	Annular pancreas, Astigmatism, Heterochromia iridis, Nephrocalcinosis, Hydronephrosis, Cryptorchi...	ORPHA:264450
3Q29 Microdeletion Syndrome	Microcephaly, Microphthalmia, Cataract, Attention deficit hyperactivity disorder	ORPHA:65286
Chromosome 8Q21.11 Deletion Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Sclerocornea, Cataract	OMIM:614230
Martsolf Syndrome 1	Periventricular white matter hyperintensities, Microphthalmia, Microcephaly, Developmental catara...	OMIM:212720
Adams-Oliver Syndrome	Cataract, Periventricular leukomalacia, Microphthalmia, Porencephalic cyst	ORPHA:974
Skin Creases, Congenital Symmetric Circumferential, 1	Microcephaly, Microcornea, Microphthalmia, Hypoplasia of the corpus callosum	OMIM:156610
Cerebrofacioarticular Syndrome	Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus c...	ORPHA:314679
Multiple Benign Circumferential Skin Creases On Limbs	Microcephaly, Microcornea, Microphthalmia	ORPHA:2505
Diabetes Mellitus, Transient Neonatal, 3	Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ...	OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe...	OMIM:606176
Trisomy 18	Cyclopia, Microphthalmia, Anencephaly, Microcornea, Cognitive impairment, Microcephaly, Cataract,...	ORPHA:3380
Neuroocular Syndrome	Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Hypoplasia of the fovea, Len...	OMIM:619539
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Microphthalmia	ORPHA:35173
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Microcornea, Microcephaly, Cataract, Keratoconjunctivitis sicca	OMIM:601675
Galloway-Mowat Syndrome 1	Secondary microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Hypo...	OMIM:251300
Linear Nevus Sebaceus Syndrome	Microphthalmia, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus call...	ORPHA:2612
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Cystoid macular edema, C...	ORPHA:91500
Alagille Syndrome	Delayed puberty, Keratoconus, Corneal dystrophy, Abnormality of the ureter, Nephrotic syndrome, C...	ORPHA:52
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum	ORPHA:363444
Noonan Syndrome	Delayed menarche, Melanocytic nevus, Cryptorchidism, Blue irides, Hypogonadotropic hypogonadism	ORPHA:648
Braddock-Carey Syndrome 2	Microcephaly, Microphthalmia	OMIM:619981
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebral atrophy, Polymicrogyria, Microphthalmia, Hypoplasia of the corpus callosum	OMIM:618494
Vernal Keratoconjunctivitis	Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat...	ORPHA:70476
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Microphthalmia, Persistent pupillary membrane	OMIM:257850
Myoclonic-Astatic Epilepsy	Microcephaly, Microphthalmia, Attention deficit hyperactivity disorder	ORPHA:1942
Axenfeld-Rieger Syndrome, Type 1	Decreased response to growth hormone stimulation test, Polycoria, Hypospadias, Aniridia, Microcor...	OMIM:180500
17Q12 Microduplication Syndrome	Cortical dysplasia, Microphthalmia	ORPHA:261272
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Microphthalmia, Optic nerve hypo...	ORPHA:508498
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Coloboma, Corneal opacity, Ectopia pupillae, Lens subluxation	ORPHA:85167
Atelis Syndrome 2	Microphthalmia, Remnants of the hyaloid vascular system, Microcephaly, Developmental cataract, At...	OMIM:620185
Chromosome 13Q33-Q34 Deletion Syndrome	Microcephaly, Microphthalmia, Anencephaly, Agenesis of corpus callosum	OMIM:619148
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microcephaly, Microphthalmia, Cognitive impairment, Iris coloboma	ORPHA:1236
Alstrom Syndrome	Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, De...	OMIM:203800
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Microcephaly, Agenesis of corpus callosum, Partial agen...	OMIM:610828
Williams-Beuren Syndrome	Retinal arteriolar tortuosity, Blue irides, Premature graying of hair, Glucose intolerance, Gait ...	OMIM:194050
Papillorenal Syndrome	Microphthalmia, Lens luxation, Retinal coloboma, Optic disc coloboma, Cataract	OMIM:120330
Cockayne Syndrome	Delayed puberty, Urinary incontinence, Retinal atrophy, Ataxia, Optic atrophy, Difficulty walking...	ORPHA:191
Joubert Syndrome 37	Hypoplasia of the corpus callosum, Microphthalmia	OMIM:619185
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Delayed puberty, Abnormal vitreous humor morpho...	ORPHA:649
Trichothiodystrophy	Periventricular leukomalacia, Bilateral microphthalmos, Cerebral dysmyelination, Astigmatism, Mic...	ORPHA:33364
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Ocular anterior segment dysgenesis	ORPHA:369891
Cockayne Syndrome Type 3	Microphthalmia, Corneal ulceration, Progressive microcephaly, Cerebral white matter atrophy, Micr...	ORPHA:90324
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microcephaly, Microphthalmia, Ocular albinism	ORPHA:1352
Coats Disease	Retinal telangiectasia, Exudative retinal detachment, Leukocoria	OMIM:300216
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia, Microcornea, Coloboma, Chorioretinal coloboma, Optic disc ...	ORPHA:959
Gracile Bone Dysplasia	Microphthalmia, Aniridia	OMIM:602361
Oculodentodigital Dysplasia	Optic atrophy, Abnormality iris morphology, Neurogenic bladder, Microcornea, Gait disturbance, At...	ORPHA:2710
Aicardi Syndrome	Microphthalmia, Polymicrogyria, Microcephaly, Chorioretinal coloboma, Pachygyria, Optic disc colo...	ORPHA:50
Incontinentia Pigmenti	Microphthalmia, Corneal opacity, Cognitive impairment, Cerebral cortical atrophy, Attention defic...	ORPHA:464
Mowat-Wilson Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Aplasia/Hypoplasia of the cerebral white matte...	OMIM:235730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microphthalmia, Buphthalmos, Polymicrogyria, Type II lissencephaly, Coloboma, Megalocornea, Micro...	OMIM:253280
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Microphthalmia, Anophthalmia, Iris coloboma	ORPHA:2250
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Adrenocorticotropin receptor defect, Hyperpigmentation of the skin, Anisocoria, De...	OMIM:231550
Monosomy 13Q14	Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly, Cataract, Iris coloboma	ORPHA:1587
Focal Dermal Hypoplasia	Microphthalmia, Corneal opacity, Hypoplasia of the iris, Cognitive impairment, Ectopia lentis, Ch...	ORPHA:2092
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Developmental cataract, Basal ganglia calcification	OMIM:127000
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Cortical dys...	OMIM:175780
Holoprosencephaly 2	Cyclopia, Microphthalmia, Remnants of the hyaloid vascular system, Microcephaly, Chorioretinal co...	OMIM:157170
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Hypokalemia, Abnormal cornea...	ORPHA:411629
Proboscis Lateralis	Cyclopia, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Abnormal corpus call...	ORPHA:141099
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Urinary incontinence, Iris atrophy, Impotence, Urinary urgency, Ataxia	OMIM:146500
Collagenoma, Familial Cutaneous	Primary testicular failure, Iris atrophy	OMIM:115250
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Hydranencephaly, Microcornea, Retinal coloboma, Iris coloboma	ORPHA:2839
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Joubert Syndrome 14	Hypoplasia of the corpus callosum, Coloboma, Microphthalmia	OMIM:614424
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Bilateral microphthalmos, Polymicrogyria, Co...	ORPHA:468631
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Corneal opacity, Ectopia pupillae, Optic disc coloboma, Lens subluxation	OMIM:608940
Heart And Brain Malformation Syndrome	Microcephaly, Microphthalmia, Cerebral atrophy, Hypoplasia of the corpus callosum	OMIM:616920
Nephronophthisis 11	Polyuria, Nephronophthisis, Anisocoria, Retinal degeneration, Stage 5 chronic kidney disease, Ren...	OMIM:613550
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Fetal Alcohol Syndrome	Microcephaly, Microphthalmia, Cognitive impairment	ORPHA:1915
Monosomy 18P	Microcephaly, Microphthalmia	ORPHA:1598
Oculodentodigital Dysplasia	Microphthalmia, Microcornea, Microcephaly, Basal ganglia calcification, Abnormal cerebral white m...	OMIM:164200
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Phace Association	Optic nerve hypoplasia, Microphthalmia, Developmental cataract	OMIM:606519
Charcot-Marie-Tooth Disease Type 1E	Steppage gait, Difficulty walking, Gait imbalance, Inability to walk, Gait disturbance, Anisocori...	ORPHA:90658
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Microcephaly, Polymicrogyria, Unilateral microphthalmos, Iris coloboma	OMIM:618874
3P25.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Cerebral white matter atrophy, Microphthalmia	ORPHA:435638
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia, Corneal opacity, Microcephaly, Posterior embryotoxon, Sclerocornea,...	ORPHA:2556
Proteus Syndrome	Irregular hyperpigmentation, Enlarged kidney, Thymus hyperplasia, Generalized hyperpigmentation, ...	ORPHA:744
Lesch-Nyhan Syndrome	Hyperuricemia, Nephrolithiasis, Nephrocalcinosis, Choreoathetosis, Hyperuricosuria, Testicular at...	OMIM:300322
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcephaly, Microcornea, Microphthalmia	OMIM:110100
Holoprosencephaly 1	Microcephaly, Cyclopia, Microphthalmia, Agenesis of corpus callosum	OMIM:236100
Juvenile Nephropathic Cystinosis	Proximal tubulopathy, Corneal crystals, Hypophosphatemia, Elevated circulating creatinine concent...	ORPHA:411634
Meckel Syndrome	Microphthalmia, Anencephaly, Anophthalmia, Microcornea, Aplasia/Hypoplasia of the iris, Microceph...	ORPHA:564
Meckel Syndrome, Type 4	Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Microcephaly	OMIM:611134
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Retinal coloboma, Cataract, Iris coloboma	OMIM:607323
Fanconi Anemia, Complementation Group D2	Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly, Agenesis of corpus callosum, Att...	OMIM:227646
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Microphthalmia	OMIM:302960
2Q31.1 Microdeletion Syndrome	Microphthalmia, Coloboma, Microcephaly, Cerebral cortical atrophy, Optic disc coloboma, Iris colo...	ORPHA:251014
Bone Marrow Failure Syndrome 5	Reticular hyperpigmentation, Testicular atrophy, Hypogonadism	OMIM:618165
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Steinert Myotonic Dystrophy	Impotence, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Astigmatism, ...	ORPHA:273
Hallermann-Streiff Syndrome	Microphthalmia, Microcephaly, Chorioretinal coloboma, Optic disc coloboma, Cataract, Iris coloboma	OMIM:234100
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Attention deficit hyperactivity disorder, Microphthalmia	ORPHA:404440
Hermansky-Pudlak Syndrome 10	Albinism, Ocular albinism	OMIM:617050
Fanconi Anemia, Complementation Group S	Microcephaly, Microphthalmia	OMIM:617883
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Abnormal cortical gyration, Anophthalmia, Agenesis of corpus callosum, Absent sep...	ORPHA:2538
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Microphthalmia, Corneal ulceration, Conjunctivitis	OMIM:153400
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Iris atrophy, Absent anterior chamber of the eye, Microcephaly, Cataract, Phthisi...	OMIM:259770
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Corneopalpebral synechiae, Anophthalmia	OMIM:248450
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microcephaly, Microphthalmia, Attention deficit hyperactivity disorder	OMIM:620098
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Incontinentia Pigmenti	Microphthalmia, Microcephaly, Keratitis, Hypoplasia of the fovea, Cataract	OMIM:308300
Frontofacionasal Dysplasia	Cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:229400
Axenfeld-Rieger Syndrome, Type 3	Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ...	OMIM:602482
Dubowitz Syndrome	Microphthalmia, Megalocornea, Short attention span, Hypoplasia of the iris, Microcephaly, Iris co...	OMIM:223370
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypoplasia of the corpus callosum, Microphthalmia, Coloboma, Hypoplastic anterior commissure, Mic...	OMIM:616975
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Jacobsen Syndrome	Microphthalmia, Microcornea, Microcephaly, Chorioretinal coloboma, Macular hypoplasia, Iris coloboma	OMIM:147791
Moebius Syndrome	Microphthalmia	OMIM:157900
Monosomy 9Q22.3	Cataract, Microphthalmia, Calcification of falx cerebri	ORPHA:77301
Basal Cell Nevus Syndrome 1	Cataract, Microphthalmia, Calcification of falx cerebri, Iris coloboma	OMIM:109400
Neu-Laxova Syndrome 1	Microphthalmia, Pterygium, Hydranencephaly, Agenesis of corpus callosum, Cataract, Lissencephaly,...	OMIM:256520
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microcephaly, Microphthalmia, Corneal opacity	ORPHA:364577
Cohen Syndrome	Microcephaly, Microphthalmia, Iris coloboma	ORPHA:193
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microcephaly, Microphthalmia, Hypoplasia of the corpus callosum	OMIM:241410
Meckel Syndrome, Type 5	Microphthalmia, Anencephaly	OMIM:611561
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Corneal opacity, Microcephaly, Cataract, Aplasia/Hypoplasia of the corpus callosum	ORPHA:1052
Neurooculorenal Syndrome	Unilateral renal agenesis, Decreased circulating ACTH concentration, Iris atrophy, Central hypoth...	OMIM:620305
Dyskeratosis Congenita, Autosomal Recessive 2	Reticulated skin pigmentation, Testicular atrophy	OMIM:613987
Hermansky-Pudlak Syndrome 2	Generalized hypopigmentation, Aberrant melanosome maturation, Albinism, Fair hair, Ocular albinism	OMIM:608233
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Down Syndrome	Hypothyroidism, Brushfield spots	OMIM:190685
Mosaic Trisomy 9	Microcephaly, Microphthalmia, Corneal opacity	ORPHA:99776
Holoprosencephaly	Cyclopia, Microphthalmia, Anophthalmia, Cognitive impairment, Microcephaly, Chorioretinal colobom...	ORPHA:2162
White-Kernohan Syndrome	Dysplastic corpus callosum, Attention deficit hyperactivity disorder	OMIM:619426
Joubert Syndrome 2	Microphthalmia, Abnormal corpus callosum morphology, Chorioretinal coloboma, Optic disc coloboma	OMIM:608091
Garg-Mishra Progeroid Syndrome	Secondary microcephaly, Microphthalmia	OMIM:620601
Galloway-Mowat Syndrome 3	Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly, Simplified gyr...	OMIM:617729
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Dysplastic corpus callosum	OMIM:151050
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Corneal...	ORPHA:534
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
1P36 Deletion Syndrome	Optic atrophy, Abnormal female external genitalia morphology, Annular pancreas, Hypospadias, Hypo...	ORPHA:1606
Witteveen-Kolk Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microphthalmia, Iris coloboma, Cor...	OMIM:613406
Revesz Syndrome	Broad-based gait, Exudative retinopathy, Megalocornea, Ataxia, Leukocoria, Fine, reticulate skin ...	OMIM:268130
Fryns Syndrome	Opacification of the corneal stroma, Microphthalmia, Agenesis of corpus callosum	OMIM:229850
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Cockayne Syndrome B	Cerebral atrophy, Microphthalmia, Microcornea, Hypoplasia of the iris, Microcephaly, Developmenta...	OMIM:133540
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Hypoplasia of the frontal lobes, Sclerocornea, Agenesis...	ORPHA:3472
Cerebrooculofacioskeletal Syndrome 4	Microcephaly, Polymicrogyria, Bilateral microphthalmos, Simplified gyral pattern	OMIM:610758
Mend Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Cataract	ORPHA:401973
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Anophthalmia	ORPHA:3412
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Microphthalmia, Zonular cataract	OMIM:268400
Cousin Syndrome	Microcornea, Microphthalmia, Hydranencephaly	OMIM:260660
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	OMIM:184705
Meckel Syndrome, Type 1	Microphthalmia, Anencephaly, Cerebral hypoplasia, Microcephaly, Agenesis of corpus callosum, Iris...	OMIM:249000
Bosma Arhinia Microphthalmia Syndrome	Cataract, Coloboma, Microphthalmia	OMIM:603457
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Cat Eye Syndrome	Microphthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:115470
Microcephaly-Micromelia Syndrome	Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Microphthalmia, Simplified gyral pattern	OMIM:251230
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly	OMIM:603194
Ritscher-Schinzel Syndrome 3	Microphthalmia, Chorioretinal coloboma	OMIM:619135
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Chromosome 1Q41-Q42 Deletion Syndrome	Microcephaly, Microphthalmia	OMIM:612530
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia, Microcephaly, Ectopia lentis, Chorioretinal coloboma, Age...	OMIM:305600
Fanconi Anemia, Complementation Group R	Microcephaly, Microphthalmia	OMIM:617244
Monosomy 9P	Microcephaly, Microphthalmia, Agenesis of corpus callosum	ORPHA:261112
Hallermann-Streiff Syndrome	Microcephaly, Microphthalmia, Developmental cataract	ORPHA:2108
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Abnormality of adrenal physiology, Anisocoria	OMIM:300858
X-Linked Intellectual Disability, Snyder Type	Ectopic kidney, Hypospadias, Inability to walk, Abnormality of the Leydig cells, Unsteady gait, P...	ORPHA:3063
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microcephaly, Cyclopia, Microphthalmia, Iris coloboma	ORPHA:3186
Frontonasal Dysplasia 2	Microcephaly, Microphthalmia, Hypoplasia of the corpus callosum	OMIM:613451
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Microphthalmia, Syndromic 2	Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Microcornea, Remnants of the hya...	OMIM:300166
Holoprosencephaly 9	Microphthalmia, Thin corpus callosum, Abnormal cortical gyration, Anophthalmia, Optic nerve hypop...	OMIM:610829
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Townes-Brocks Syndrome	Microphthalmia, Chorioretinal coloboma, Agenesis of corpus callosum, Cataract, Limbal dermoid, Ir...	ORPHA:857
Zttk Syndrome	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Abnormal cerebral white matter m...	OMIM:617140
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microcephaly, Microphthalmia, Cataract, Anophthalmia	ORPHA:2526
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microcephaly, Microphthalmia, Cataract	OMIM:620005
Neonatal Marfan Syndrome	Decreased testicular size, Iridodonesis, Ectopia lentis, Megalocornea	ORPHA:284979
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microcephaly, Microphthalmia	ORPHA:2728
Treacher-Collins Syndrome	Cataract, Microphthalmia, Iris coloboma	ORPHA:861
Weill-Marchesani Syndrome 2	Iridodonesis, Astigmatism, Microspherophakia, Lens luxation, Ectopia lentis, Shallow anterior cha...	OMIM:608328
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Skin Creases, Congenital Symmetric Circumferential, 2	Microcephaly, Microcornea, Microphthalmia, Hypoplasia of the corpus callosum	OMIM:616734
Facial Spasm	Anisocoria	OMIM:134300
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Developmental cataract, Basal ganglia calcification	ORPHA:93325
Roberts Syndrome	Microcephaly, Microphthalmia, Cataract	ORPHA:3103
Renpenning Syndrome 1	Cerebral atrophy, Microphthalmia, Coloboma, Microcephaly, Cataract	OMIM:309500
Retinoblastoma	Retinoblastoma, Retinal calcification, Leukocoria, Vitreous hemorrhage, Pinealoma, Vitritis	OMIM:180200
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Microphthalmia, Corneal ulceration, Pterygium, Opacifica...	OMIM:263650
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Ischemic stroke, Dysplastic corp...	ORPHA:500150
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Thick corpus callosum	OMIM:300967
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Hydrolethalus Syndrome 1	Microphthalmia, Abnormal cortical gyration, Anencephaly, Agenesis of corpus callosum, Absent sept...	OMIM:236680
Pallister-Hall Syndrome	Microphthalmia, Hypothalamic hamartoma	OMIM:146510
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Cyclopia, Microphthalmia	ORPHA:2166
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia, Microcornea, Coloboma, Microcephaly, Cerebral cortical atrophy, Scl...	OMIM:607932
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Iris atrophy, Ectopia pupillae, Lateral ventricle dilatation, Primary microcephal...	ORPHA:261552
Myhre Syndrome	Microcephaly, Microphthalmia, Cataract	OMIM:139210
Lowe Oculocerebrorenal Syndrome	Dense posterior cortical cataract, Microphthalmia, Corneal scarring, Developmental cataract, Peri...	OMIM:309000
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microcephaly, Microphthalmia, Corneal opacity	OMIM:608670
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Astigmatism, Polymicro...	ORPHA:261537
Tetraamelia Syndrome 1	Cataract, Microphthalmia	OMIM:273395
Fanconi Anemia	Microphthalmia, Astigmatism, Microcephaly, Cataract, Aplasia/Hypoplasia of the iris	ORPHA:84
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
22Q11.2 Deletion Syndrome	Corneal neovascularization, Microphthalmia, Microcephaly, Posterior embryotoxon, Attention defici...	ORPHA:567
Fanconi Anemia, Complementation Group F	Microcephaly, Microphthalmia	OMIM:603467
Charge Syndrome	Microphthalmia, Anophthalmia, Coloboma, Microcephaly, Chorioretinal coloboma, Attention deficit h...	ORPHA:138
Fanconi Anemia, Complementation Group N	Microcephaly, Microphthalmia	OMIM:610832
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum	ORPHA:466791
Fanconi Anemia, Complementation Group E	Microcephaly, Microphthalmia	OMIM:600901
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Nuclear pulverulent cataract, Sutural cataract, Microcephaly, Cataract	OMIM:612474
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Fanconi Anemia, Complementation Group A	Microcephaly, Microphthalmia	OMIM:227650
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Teebi-Shaltout Syndrome	Microcephaly, Microphthalmia	OMIM:272950
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microcephaly, Popliteal pterygium, Microphthalmia, Antecubital pterygium	OMIM:609945
Mowat-Wilson Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Astigmatism, Focal white matter lesions, Polym...	ORPHA:2152
Degcags Syndrome	Microcephaly, Microphthalmia, Agenesis of corpus callosum	OMIM:619488
Adams-Oliver Syndrome 1	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Microphthalmia, Polymicrogyria, ...	OMIM:100300
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	OMIM:620186
Fanconi Anemia, Complementation Group C	Microcephaly, Microphthalmia	OMIM:227645
Fanconi Anemia, Complementation Group L	Attention deficit hyperactivity disorder, Microphthalmia	OMIM:614083
Charge Syndrome	Microphthalmia, Anophthalmia, Coloboma, Unilateral microphthalmos, Retinal coloboma, Microcephaly...	OMIM:214800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia, Retinal coloboma, Microcephaly, Cataract, Iris coloboma	OMIM:113620
Fraser Syndrome 1	Bilateral microphthalmos, Abnormal cortical gyration, Anophthalmia, Corneal opacity, Microcephaly	OMIM:219000
Craniofacial Microsomia 1	Limbal dermoid, Microphthalmia, Agenesis of corpus callosum, Anophthalmia	OMIM:164210
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia	OMIM:601186
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Coloboma, Corneal opacity, Microcephaly, Cataract, Opacification of the corneal s...	OMIM:268300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Fontaine Progeroid Syndrome	Microcephaly, Microphthalmia, Hypoplasia of the corpus callosum	OMIM:612289
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Pallister-Hall Syndrome	Hypothalamic hamartoma, Microphthalmia, Abnormal corpus callosum morphology, Abnormal basal gangl...	ORPHA:672
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Microphthalmia, Syndromic 1	Microphthalmia, Ciliary body coloboma, Anophthalmia, Microcornea, Microcephaly, Chorioretinal col...	OMIM:309800
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Hypokalemia, Keratoconus, Renovascular hypertension, Uterine prolap...	ORPHA:286
8Q24.3 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Secondary microcephaly, Bilateral microphthalmos, Optic nerve ...	ORPHA:508488
Fraser Syndrome	Microcephaly, Microphthalmia, Anophthalmia	ORPHA:2052
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Life Stage
Testis - MPATH pathological process term dysplasia	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult
Testis - MPATH pathological process term spermatogenesis defect	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult
Epididymis - MPATH pathological process term hypospermia	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult
Eye - MPATH pathological process term developmental dysplasia	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Abi2.

No publications found that use IMPC mice or data for Abi2.

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MGI Allele	Allele Type	Produced
Abi2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Abi2^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Abi2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Abi2 MGI:106913

Gene Summary

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Phenotypes

lacZ Expression

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Eye Morphology

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X-ray

Eye Morphology

Gross Pathology and Tissue Collection

Histopathology

Immunophenotyping

Human diseases caused by Abi2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data