Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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
increased anxiety-related response	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.34×10^-09
increased circulating alanine transaminase level	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.26×10^-05
absent urinary bladder	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal iris pigmentation	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.04×10^-18
abnormal iris morphology	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.63×10^-15
decreased locomotor activity	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.39×10^-05
small testis	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
hyperactivity	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.42×10^-13
abnormal seminal vesicle morphology	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal retina morphology	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.56×10^-05
increased fasting circulating glucose level	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.72×10^-05
abnormal cornea morphology	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.59×10^-16
decreased prepulse inhibition	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.59×10^-06
abnormal behavior	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.10×10^-08
increased thigmotaxis	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.06×10^-08

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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 Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Eye Morphology

Images Slit Lamp

18 Images

View images

Gross Pathology and Tissue Collection

Images

8 Images

View images

Histopathology

Images

12 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Eye Morphology

Images Ophthalmoscopy

4 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Immunophenotyping

Panel B FCS file(s)

2 Images

View images

Immunophenotyping

Panel A FCS file(s)

2 Images

View images

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 (702 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	Microphthalmia, Cataract	OMIM:156850
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Elevated urinary phenylpyruvic acid leve...	OMIM:261600
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Agenesis of corpus callosum, Cerebral cortical atrophy	ORPHA:401830
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Short attention span, Abno...	ORPHA:500166
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o...	OMIM:604213
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia, Coloboma	OMIM:251505
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus callosum, C...	OMIM:615771
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebr...	OMIM:616171
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum	OMIM:274270
Oliver-Mcfarlane Syndrome	Central heterochromia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to ...	OMIM:275400
Mucolipidosis Iv	Corneal opacity, Cerebral dysmyelination, Microcephaly, Progressive neurologic deterioration, Dys...	OMIM:252650
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ...	OMIM:103500
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Agenesis of corpus callosum, Microcephaly	OMIM:616570
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Adult-Onset Foveomacular Vitelliform Dystrophy	Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation	ORPHA:99000
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Congenital Varicella Syndrome	Microphthalmia, Cataract, Cerebral cortical atrophy, Microcephaly	ORPHA:291
Usher Syndrome Type 3	Cataract, Ataxia, Depression, Astigmatism, Iris hypopigmentation	ORPHA:231183
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Polyphagia, Inappropriate laug...	ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut...	OMIM:615516
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity, Chorioretinal degeneration	OMIM:616311
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo...	OMIM:126070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Simplified gyral pattern, Coloboma, Abnormal cerebral white matter mor...	OMIM:613153
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor...	ORPHA:250972
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Polyphagia,...	ORPHA:177910
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Aggressive behavior, Hypogonadism, Abnormality of macular pigmentation...	ORPHA:97229
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Sclerocornea, Microcephaly, Microcornea, Chorioretinal coloboma, Micropht...	ORPHA:139471
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o...	OMIM:619947
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ...	OMIM:608716
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract, Microcephaly	ORPHA:2528
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Griscelli Syndrome Type 1	Partial albinism, Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iri...	ORPHA:79476
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Lissencephaly, ...	OMIM:610031
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Usher Syndrome Type 1	Depression, Cataract, Ataxia, Iris hypopigmentation	ORPHA:231169
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Warburg Micro Syndrome 1	Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Developmental cataract, Microcornea, ...	OMIM:600118
Craniotelencephalic Dysplasia	Absent septum pellucidum, Optic nerve hypoplasia, Lissencephaly, Microphthalmia, Agenesis of corp...	OMIM:218670
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract, Microcephaly	OMIM:278780
Tonne-Kalscheuer Syndrome	Broad-based gait, Hypospadias, Aggressive behavior, Cryptorchidism, Blue irides, Self-injurious b...	OMIM:300978
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c...	OMIM:614019
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides, Congenital hypothyroi...	OMIM:614613
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly	ORPHA:171703
Morm Syndrome	Hyperactivity, Cataract, Retinal dystrophy, Retinal atrophy, Aggressive behavior, Micropenis	ORPHA:75858
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Microcephaly, Coloboma, Progressive microcephaly, Lissencephaly...	OMIM:615249
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly	OMIM:618276
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
3-Methylglutaconic Aciduria Type 4	3-Methylglutaconic aciduria, Cataract, Hypoglycemia, Iris hypopigmentation	ORPHA:67048
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po...	ORPHA:300573
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Lissencephaly, Microphthalmia, Agenesis of corpus callosum	ORPHA:1528
Martsolf Syndrome 2	Cataract, Microcephaly, Developmental cataract, Lateral ventricle dilatation, Hypoplasia of the c...	OMIM:619420
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of...	OMIM:618492
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:610023
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Microphthalmia, Syndromic 13	Microcephaly, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:300915
Joubert Syndrome 23	Dysplastic corpus callosum, Coloboma	OMIM:616490
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Developmental cataract, Coloboma, Microphthalmia, Ocular anterior segment dysgenesis, Type II lis...	ORPHA:324416
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Microcephaly 10, Primary, Autosomal Recessive	Cataract, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Prima...	OMIM:615095
Lissencephaly Due To Tuba1A Mutation	Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limbs of the internal capsule,...	ORPHA:171680
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract, Agenesis of corpus callosum	ORPHA:93267
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin...	OMIM:277580
Temtamy Syndrome	Ectopia lentis, Lens luxation, Thick corpus callosum, Chorioretinal coloboma, Microphthalmia, Age...	OMIM:218340
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum	OMIM:166990
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	External genital hypoplasia, Self-mutilation, Unsteady gait, Blue irides, Dysmetria, Hypogonadism...	ORPHA:3041
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co...	ORPHA:1473
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, ...	OMIM:614833
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, I...	ORPHA:411511
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Microcephaly	OMIM:616335
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia, Hyperlysinuria, Ectopia lentis	OMIM:238700
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Angelman Syndrome	Keratoconus, Optic disc pallor, Hyperactivity, Broad-based gait, Precocious puberty in females, A...	ORPHA:72
Frontonasal Dysplasia 1	Pericallosal lipoma, Cataract, Coloboma, Microphthalmia, Agenesis of corpus callosum	OMIM:136760
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Abnormality iris morphology, Coloboma	ORPHA:1617
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Microphthalmia, Pachygyria	OMIM:251270
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Gombo Syndrome	Microphthalmia, Microcephaly	OMIM:233270
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Lissencephaly 8	Cataract, Microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Polymicrogyria, Agyria...	OMIM:617255
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Polymicrogyria, Retinal coloboma, Microphthalmia, Pachygyria, Iris co...	ORPHA:2328
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp...	OMIM:605899
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Cofs Syndrome	Cerebral calcification, Cataract, Microcephaly, Microphthalmia, Cerebral cortical atrophy	ORPHA:1466
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom...	ORPHA:54
Baraitser-Winter Syndrome 2	Coloboma, Lissencephaly, Secondary microcephaly, Microphthalmia, Pachygyria, Agenesis of corpus c...	OMIM:614583
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal eating behavior, Tong...	ORPHA:98794
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ...	ORPHA:66624
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:98793
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of corpus callosum	OMIM:614402
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
Nanophthalmos 2	Microphthalmia	OMIM:609549
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:164180
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:98754
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Micropht...	OMIM:614105
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:177901
Methionine Malabsorption Syndrome	Aminoaciduria, White hair, Blue irides, Positive ferric chloride test	OMIM:250900
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Agenesis of corpus callosum, Iris coloboma	ORPHA:1553
Free Sialic Acid Storage Disease	Ataxia, Proteinuria, Abnormality of skin pigmentation, Athetosis, Nephrotic syndrome, Gait distur...	ORPHA:834
Adams-Oliver Syndrome 2	Microcephaly, Cerebral atrophy, Developmental cataract, Lateral ventricle dilatation, Microphthal...	OMIM:614219
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic nerve hypoplasia, Microcephaly, Diffuse white matter abnormalities, Abnormality i...	ORPHA:370959
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxy...	OMIM:239500
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia, Hypopigm...	ORPHA:98795
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microcephaly, Developmental cataract, Hypoplasia of the corpus callosum, Microphthalmia, Focal co...	OMIM:613155
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Latera...	ORPHA:77299
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Dworschak-Punetha Neurodevelopmental Syndrome	Optic disc hypoplasia, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus...	OMIM:619955
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r...	ORPHA:79432
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Cataract, Progressive neurologic deterioration, Microcephaly, Basal gan...	OMIM:214150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Leukoencephalopathy, Microphthalmia, Polymicrogyria, Type II li...	OMIM:615181
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Aminoa...	OMIM:214110
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Sclerocornea, Microphthalmia, Agenesis of corpus callosum, Iris coloboma	ORPHA:77298
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Microcephaly, Astigmatism, Microphthalmia, Thin corpus callosum	OMIM:619694
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Piebald Trait-Neurologic Defects Syndrome	Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Irregular hyperpigmentation, Hetero...	ORPHA:2885
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional lability, Neu...	OMIM:234500
Woolly Hair Nevus	Precocious puberty, Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary m...	ORPHA:79414
Zellweger Syndrome	Multicystic kidney dysplasia, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Hypos...	ORPHA:912
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge...	ORPHA:83461
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p...	OMIM:193510
Walker-Warburg Syndrome	Anophthalmia, Corneal opacity, Cataract, Absent septum pellucidum, Abnormal cortical gyration, Mi...	ORPHA:899
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300887
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypot...	OMIM:619927
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Blue irides, Progressive gait ataxia, Fair hair, Hypopig...	OMIM:105830
Usher Syndrome Type 2	Depression, Cataract, Ataxia, Iris hypopigmentation	ORPHA:231178
Wolfram Syndrome 1	Neurogenic bladder, Cataract, Diabetes mellitus, Diabetes insipidus, Ataxia, Hydroureter, Hypothy...	OMIM:222300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract, Cerebral cortical atrophy	ORPHA:48431
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract, Retinal coloboma	OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract, Retinal coloboma	ORPHA:363741
Noonan Syndrome 13	Aggressive behavior, Cryptorchidism, Blue irides, Head-banging, Multiple lentigines, Attention de...	OMIM:619087
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	OMIM:176270
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Hypospadias, Adrenal hypoplasia, Brushfield spots, Cryptorchidism, U...	OMIM:214100
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly	OMIM:619466
Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed puberty, Congenital stationary ...	ORPHA:90646
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Spondylo-Ocular Syndrome	Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ataxia, Ureteral stenosis, Cryptorchidism, O...	ORPHA:2719
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis...	ORPHA:79433
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum	ORPHA:1777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Agyria, Partial agenes...	OMIM:614643
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Renal insufficiency, Irregular menstruation, A...	OMIM:615986
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Cortical dysplasia, Porencephalic cyst, Hypoplasia of the iris, Hypoplasia of the c...	OMIM:613001
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Microcephaly, Myopic astigmatism, Simplified gyral pattern, Microcorne...	OMIM:152950
Band Heterotopia	Lateral ventricle dilatation, Subcortical band heterotopia, Agenesis of corpus callosum, Polymicr...	OMIM:600348
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Agenesis of corpus callosum, Iris c...	ORPHA:3301
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions, Developmental cataract	ORPHA:557003
Combined Oxidative Phosphorylation Deficiency 54	Memory impairment, Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matt...	OMIM:619737
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cataract, Secondary microcephaly	OMIM:613730
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:212550
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Cat-Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Blue ...	OMIM:614077
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Microcephaly, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmi...	OMIM:613150
Trichothiodystrophy 4, Nonphotosensitive	Microcephaly, Partial agenesis of the corpus callosum, Microcornea, Keratoconjunctivitis sicca, M...	OMIM:234050
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lateral ventricle dilatation, Lens coloboma, Hypoplasia of the corpus callosum	OMIM:618914
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Developmental cataract	OMIM:618810
Waardenburg Syndrome, Type 3	Partial albinism, Blue irides, Hypopigmented skin patches, Premature graying of hair, White forel...	OMIM:148820
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Microcornea, Peters anomaly, Microp...	OMIM:243605
Baraitser-Winter Syndrome 1	Microcephaly, Lissencephaly, Chorioretinal coloboma, Microphthalmia, Pachygyria, Agenesis of corp...	OMIM:243310
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla...	OMIM:611584
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia, Microcephaly	OMIM:601349
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Wyburn-Mason Syndrome	Irritability, Retinal vascular malformation, Iris hypopigmentation	ORPHA:53719
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Astigmatism, Microp...	OMIM:609053
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Hypospadias, Brushfield spots, Conjugated hyperbilirubinemia, Cryptorchidism, Optic ner...	OMIM:614866
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Griscelli Syndrome	Ataxia, Silver-gray hair, White hair, Hypopigmented skin patches, Premature graying of hair, Abno...	ORPHA:381
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven...	OMIM:616900
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def...	OMIM:619172
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Microcephaly, Cataract, Developmental cataract	OMIM:610756
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Corneal opacity, Dysplastic corpus callosum, Abnormal cornea morphology, S...	ORPHA:357058
Pierpont Syndrome	Microcornea, Microphthalmia, Abnormal cortical gyration, Primary microcephaly	ORPHA:487825
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Bradykinesia, Self...	OMIM:619827
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Kennedy Disease	Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Abnormal ...	ORPHA:481
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microcephaly, Cerebral atrophy, Microcornea, Hypoplasia of the corpus callosum, Microph...	OMIM:616449
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Lateral ventricle dilatation, Agenesis of corpus callosum, Sclerocornea	OMIM:300952
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma	ORPHA:1791
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the p...	ORPHA:2969
Septooptic Dysplasia	Agenesis of corpus callosum, Absent septum pellucidum, Optic disc hypoplasia, Optic nerve hypoplasia	OMIM:182230
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop...	ORPHA:79477
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia, Cavum septum pell...	OMIM:617306
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, ...	OMIM:206900
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Menometrorrhagia, Anorexia, Renal insuffici...	ORPHA:79430
Congenital Rubella Syndrome	Cataract, Corneal opacity, Microcephaly, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration, Dysp...	OMIM:313200
Acrofrontofacionasal Dysostosis	Brushfield spots, Hypospadias, Hypopigmented skin patches, Bifid scrotum	ORPHA:1784
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Iris hypopigmentation	ORPHA:284160
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Metrorrhagia, Albinism, Ocular albinism, Iris transillumination defect, ...	OMIM:614074
Nanophthalmos	Microphthalmia	ORPHA:35612
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro...	ORPHA:248111
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Ataxia, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation	ORPHA:2720
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Edinburgh Malformation Syndrome	Brushfield spots	ORPHA:1895
Nance-Horan Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:627
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, B...	OMIM:221900
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t...	ORPHA:2524
Familial Dysautonomia	Hyponatremia, Renal insufficiency, Corneal opacity, Ataxia, Abnormal pupil morphology, Corneal er...	ORPHA:1764
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte...	OMIM:620141
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Agyria, Hypoplasia of the pyramidal tract, Lissencephaly, Microphthalmia, Pachygyria, A...	OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Agyria, Microcephaly, Buphthalmos, Coloboma, H...	OMIM:236670
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur...	OMIM:613266
Koolen-De Vries Syndrome	Hyperactivity, Cataract, Impulsivity, Cryptorchidism, Vesicoureteral reflux, Fair hair, Hydroneph...	OMIM:610443
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Warburg Micro Syndrome 3	Cataract, Microcephaly, Developmental cataract, Microcornea, Shallow anterior chamber, Secondary ...	OMIM:614222
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom...	OMIM:120200
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly	OMIM:620001
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce...	OMIM:101800
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract	OMIM:618805
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti...	ORPHA:177907
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Pierpont Syndrome	Microcornea, Microphthalmia, Microcephaly	OMIM:602342
Microphthalmia, Syndromic 5	Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Coloboma, Microphthalmia	OMIM:610125
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Absent septum pellucidum, Sclerocornea, Microcephaly, Colpocephaly, Peters anomaly, Mic...	OMIM:309801
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Myotonic Dystrophy 1	Cataract, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy	OMIM:160900
Microphthalmia, Isolated, With Coloboma 9	Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, ...	OMIM:615145
Mmep Syndrome	Microphthalmia, Microcephaly	ORPHA:3434
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Noonan Syndrome 4	Cryptorchidism, Ureteral duplication, Blue irides, Hydronephrosis	OMIM:610733
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Agenesis of corpus callosum, Abnormally prominent line of Schwalbe	OMIM:109120
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Ataxia, Band keratop...	OMIM:267750
Joubert Syndrome 22	Microphthalmia, Hypoplasia of the corpus callosum, Temporal cortical atrophy, Coloboma	OMIM:615665
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Cataract, Polymicrogyria, Coloboma	OMIM:612379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Cerebral calcification, Buphthalmos, Hypoplasia of the corpus callosum, Microphthalmia,...	OMIM:616538
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia	ORPHA:329249
Xeroderma Pigmentosum, Complementation Group D	Cataract, Microcephaly, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Mental deteriorati...	OMIM:278730
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Posterior polar cataract, Neurofibrillary tangles, Dementia, Cerebral amyloid angiopathy	OMIM:117300
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Secondary microcephaly, Coloboma, Peters anomaly	OMIM:618652
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Piebaldism, Hypopigmented skin ...	ORPHA:2884
Hydrolethalus	Anophthalmia, Absent septum pellucidum, Anencephaly, Microphthalmia, Agenesis of corpus callosum	ORPHA:2189
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h...	OMIM:612109
Nanophthalmos 4	Microphthalmia	OMIM:615972
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Warburg Micro Syndrome 2	Cataract, Microcephaly, Developmental cataract, Microcornea, Secondary microcephaly, Hypoplasia o...	OMIM:614225
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f...	OMIM:193500
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly	OMIM:604273
Curry-Jones Syndrome	Megalencephaly, Hemimegalencephaly, Microphthalmia, Polymicrogyria, Agenesis of corpus callosum, ...	OMIM:601707
Rere-Related Neurodevelopmental Syndrome	Astigmatism, Chorioretinal coloboma, Peters anomaly, Hypoplasia of the corpus callosum, Microphth...	ORPHA:494344
1Q21.1 Microdeletion Syndrome	Cataract, Microcephaly, Attention deficit hyperactivity disorder, Microphthalmia, Agenesis of cor...	ORPHA:250989
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Lens coloboma, Agenesis of corpus c...	ORPHA:42775
Warburg Micro Syndrome 4	Perisylvian polymicrogyria, Developmental cataract, Microcornea, Secondary microcephaly, Hypoplas...	OMIM:615663
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Chediak-Higashi Syndrome	Hypopigmentation of hair, Ataxia, Silver-gray hair, Ocular albinism, Giant melanosomes in melanoc...	OMIM:214500
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
8p23.1 deletion syndrome	Cryptorchidism, Hyperactivity	DECIPHER:39
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Microcephaly, Simplified gyral pattern, Colpocephaly, Macular hypoplasia, Lissencephaly, Choriore...	OMIM:615219
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Biemond Syndrome Type 2	Microphthalmia, Coloboma	ORPHA:141333
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Type 1 Diabetes Mellitus	Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly...	OMIM:222100
Congenital Toxoplasmosis	Microphthalmia, Cerebral calcification, Cognitive impairment, Microcephaly	ORPHA:858
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Microcephaly, Bilateral microphthalmos, Coloboma, Microphthalmia, Conj...	ORPHA:2399
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Hyperactivity, Hypospadias, Optic nerve hypoplasia, Hyperopic astigmatism, Astigmatism, Tics, Low...	ORPHA:363686
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Microcephaly	OMIM:257910
47,Xyy Syndrome	Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ...	ORPHA:8
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p...	ORPHA:1067
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	ORPHA:101082
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Hypopigmented skin patches,...	ORPHA:894
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, At...	ORPHA:636
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormal iris pigmentation, Antecubital pterygium, Primary cong...	ORPHA:2614
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Sandestig-Stefanova Syndrome	Microphthalmia, Primary microcephaly, Hypoplasia of the corpus callosum, Developmental cataract	OMIM:618804
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Type II lissencephaly	OMIM:614830
Micro Syndrome	Cataract, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Microcornea, Retinal coloboma,...	ORPHA:2510
Vitreoretinochoroidopathy	Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract	OMIM:193220
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, A...	OMIM:235200
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Hydrocephalus, Congenital, X-Linked	Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:307000
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Agenesis of corpus callosum	ORPHA:228390
Trisomy 13	Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Cognitive impairment, Microphthalmia, Iri...	ORPHA:3378
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca...	OMIM:619103
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility, Ataxia	OMIM:613909
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia	ORPHA:276183
Oculo-Palato-Cerebral Syndrome	Cataract, Remnants of the hyaloid vascular system, Microcephaly, Leukocoria, Aplasia/Hypoplasia o...	ORPHA:2714
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly	OMIM:619423
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	OMIM:160565
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Chédiak-Higashi Syndrome	Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid...	ORPHA:167
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call...	OMIM:619179
Mycophenolate Mofetil Embryopathy	Microphthalmia, Agenesis of corpus callosum, Iris coloboma, Chorioretinal coloboma	ORPHA:268249
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Developmental cataract, Microcornea, Lateral ventricle dilatation...	ORPHA:464738
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Microphthalmia	OMIM:615877
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Waardenburg Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature...	ORPHA:3440
Albinism, Ocular, Type I	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus	OMIM:300500
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Ataxia, Hypothyroidism, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, ...	ORPHA:2479
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Astigmatism, Gait disturbance, Low...	ORPHA:168491
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Microcephaly, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Bresek Syndrome	Microphthalmia, Iris coloboma, Optic nerve hypoplasia, Microcephaly	ORPHA:85284
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, E...	ORPHA:465508
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Cavum septum pellucidum, Polymicrogyria, Megalencephaly	OMIM:602501
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b...	ORPHA:100924
Microphthalmia, Lenz Type	Cataract, Microcephaly, Optic disc coloboma, Aplasia/Hypoplasia of the corpus callosum, Microcorn...	ORPHA:568
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Dysmetria, Nephrocalcino...	ORPHA:904
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Fanconi Anemia, Complementation Group G	Microphthalmia, Microcephaly	OMIM:614082
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrhea, ...	OMIM:157640
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Optic disc coloboma, Microcornea, Hydronephrosis, Retinoschisis, Heterochromia iridi...	ORPHA:2995
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Woolly Hair	Abnormal retinal morphology, Abnormal pupil morphology, Cataract, Hypopigmentation of hair	ORPHA:170
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Ectopic kidney, Ab...	ORPHA:233
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology	ORPHA:370091
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit...	ORPHA:247585
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cataract, Agenesis of corpus callosum, Pericallosal lipoma	ORPHA:306542
Xk Aprosencephaly Syndrome	Microphthalmia, Microcephaly	ORPHA:3469
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hydroureter, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypo...	OMIM:604292
Kapur-Toriello Syndrome	Cataract, Polymicrogyria, Retinal coloboma, Microphthalmia, Pachygyria, Iris coloboma	OMIM:244300
Frontorhiny	Pericallosal lipoma, Cataract, Aplasia/Hypoplasia of the corpus callosum, Microphthalmia, Iris co...	ORPHA:391474
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma, Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly	OMIM:619318
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Vaginal hydrocele, Developmental...	ORPHA:2119
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Un...	OMIM:308750
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Familial Exudative Vitreoretinopathy	Microphthalmia, Cataract, Microcephaly	ORPHA:891
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2712
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Norrie Disease	Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Uterine rupture, Abnormal repeti...	ORPHA:649
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat...	ORPHA:544488
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Cataract, Developmental cataract	OMIM:616395
Nail-Patella Syndrome	Keratoconus, Renal insufficiency, Cataract, Proteinuria, Glomerulonephritis, Antecubital pterygiu...	OMIM:161200
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Mosaic Trisomy 1	Lateral ventricle dilatation, Opacification of the corneal stroma, Microphthalmia, Polymicrogyria...	ORPHA:1692
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia, Coloboma	OMIM:167730
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili...	OMIM:609049
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:163649
Chromosome 13Q14 Deletion Syndrome	Absent septum pellucidum, Chorioretinal coloboma, Hypoplasia of the corpus callosum, Microphthalm...	OMIM:613884
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Basal ganglia calcification, Cataract, Microcephaly	OMIM:610651
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hydroureter, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypo...	OMIM:129900
Neuhauser Syndrome	Iridodonesis, Ataxia, Hypoplasia of the iris, Primary hypothyroidism, Dysphagia, Hypercholesterol...	OMIM:249310
Short Syndrome	Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Insulin res...	ORPHA:3163
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus	OMIM:614171
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn...	OMIM:256800
Aicardi Syndrome	Cataract, Microcephaly, Partial agenesis of the corpus callosum, Optic disc coloboma, Lateral ven...	OMIM:304050
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Microphallus, Low frustration toleranc...	OMIM:300486
Hartsfield Syndrome	Microphthalmia, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2117
Fryns Syndrome	Microphthalmia, Agenesis of corpus callosum, Corneal opacity, Cerebral cortical atrophy	ORPHA:2059
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Microphthalmia, Isolated 8	Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia	OMIM:615113
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len...	OMIM:619539
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Retinal coloboma, Cataract	OMIM:618571
Vici Syndrome	Hypopigmentation of hair, Cataract, Elevated circulating creatine kinase concentration, Macular a...	OMIM:242840
Hermansky-Pudlak Syndrome 4	Menorrhagia, Hypoplasia of the fovea, Ocular albinism, Albinism	OMIM:614073
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Basal ganglia calcification, Cerebral calcification, Microcephaly	OMIM:617281
Pseudotrisomy 13 Syndrome	Microcephaly, Microphthalmia, Cyclopia, Polymicrogyria, Agenesis of corpus callosum	OMIM:264480
Marden-Walker Syndrome	Microphthalmia, Agenesis of corpus callosum, Microcephaly	OMIM:248700
Congenital Fibrinogen Deficiency	Microphthalmia, Developmental cataract	ORPHA:335
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Lesch-Nyhan Syndrome	Nephrolithiasis, Hyperuricosuria, Choreoathetosis, Self-injurious behavior, Nephrocalcinosis, Hyp...	OMIM:300322
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hypothyroidism, Depressio...	ORPHA:449291
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Hypergonadotropic hypogonadism, Abnormality iris morphology	ORPHA:250999
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Microcephaly	OMIM:308350
Refsum Disease	Microphthalmia, Cataract	ORPHA:773
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, White eyebrow, Ataxia, Cryptorchidism, Hypopigmented skin patches, White foreloc...	OMIM:609136
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia, Microcephaly	OMIM:613885
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Astigmatism, Secondary microc...	OMIM:618820
Williams-Beuren Syndrome	Premature graying of hair, Early onset of sexual maturation, Glucose intolerance, Nephrocalcinosi...	OMIM:194050
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Stevenson-Carey Syndrome	Microphthalmia, Hypoplasia of the corpus callosum, Coloboma	OMIM:611961
Histiocytoid Cardiomyopathy	Corneal opacity, Microphthalmia, Megalocornea, Agenesis of corpus callosum, Congenital aphakia	ORPHA:137675
Solitary Median Maxillary Central Incisor	Anophthalmia, Microcephaly, Coloboma, Microphthalmia, Cyclopia	OMIM:147250
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia	ORPHA:411777
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Elevated circulating C-reactive protein concentration, Anorexia, St...	ORPHA:91500
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
3Q29 Microdeletion Syndrome	Microphthalmia, Cataract, Attention deficit hyperactivity disorder, Microcephaly	ORPHA:65286
Juvenile Xanthogranuloma	Multiple cafe-au-lait spots, Uveitis, Iritis, Asymmetry of iris pigmentation	ORPHA:158000
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cataract, Hypoplasia of the corpus callosum, Sclerocornea	OMIM:614230
Hermansky-Pudlak Syndrome 6	Albinism, Ocular albinism, Absent foveal reflex, Macular hypoplasia, Hypopigmentation of the skin	OMIM:614075
Nephronophthisis 11	Polyuria, Stage 5 chronic kidney disease, Anisocoria, Renal corticomedullary cysts, Nephronophthi...	OMIM:613550
Adams-Oliver Syndrome	Microphthalmia, Cataract, Porencephalic cyst, Periventricular leukomalacia	ORPHA:974
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Micro...	ORPHA:314679
Martsolf Syndrome 1	Cataract, Microcephaly, Developmental cataract, Periventricular white matter hyperintensities, Mi...	OMIM:212720
Trisomy 8P	Cryptorchidism, Annular pancreas, Nephrocalcinosis, Astigmatism, Aplasia/Hypoplasia of the gallbl...	ORPHA:264450
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:156610
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Premature graying of hair, Hypogona...	ORPHA:163746
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia, Microcephaly	ORPHA:2505
Intellectual Disability-Alacrima-Achalasia Syndrome	Aggressive behavior, Anisocoria, Enuresis, Abnormality of the adrenal glands, Dysphagia	ORPHA:289483
Trisomy 18	Cataract, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Microcornea, Cogn...	ORPHA:3380
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t...	ORPHA:273
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
Galloway-Mowat Syndrome 1	Cataract, Microcephaly, Cerebral atrophy, Hypoplasia of the iris, Secondary microcephaly, Opacifi...	OMIM:251300
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract	ORPHA:35173
Linear Nevus Sebaceus Syndrome	Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Microphtha...	ORPHA:2612
Hermansky-Pudlak Syndrome 7	Menorrhagia, Ocular albinism, Albinism	OMIM:614076
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Corneal c...	ORPHA:411629
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum	ORPHA:363444
Trichothiodystrophy 1, Photosensitive	Cataract, Microcephaly, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	OMIM:601675
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed areas, Albinism, Ocular al...	OMIM:203300
Braddock-Carey Syndrome 2	Microphthalmia, Microcephaly	OMIM:619981
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ...	ORPHA:85327
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem...	ORPHA:2298
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane	OMIM:257850
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Hyperpigmentation of the skin, Ataxia, Akinesia, Retinal degeneration, Urinary inc...	OMIM:234200
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Polymicrogyria, Hypoplasia of the corpus callosum, Cerebral atrophy	OMIM:618494
Myoclonic-Astatic Epilepsy	Microphthalmia, Attention deficit hyperactivity disorder, Microcephaly	ORPHA:1942
17Q12 Microduplication Syndrome	Microphthalmia, Cortical dysplasia	ORPHA:261272
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Microphthalmia, Agenesis of corpus callosum, Microcephaly	OMIM:619148
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Microcephaly, Developmental cataract, Attention deficit ...	OMIM:620185
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microcephaly, Coloboma, Retinal coloboma, Hypoplasia of the corpus callos...	ORPHA:508498
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma, Cognitive impairment, Microcephaly	ORPHA:1236
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxation, Microphthalmia	ORPHA:85167
Papillorenal Syndrome	Cataract, Lens luxation, Optic disc coloboma, Retinal coloboma, Microphthalmia	OMIM:120330
Trichinellosis	Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Irritability, Conjunctivitis, A...	ORPHA:863
Joubert Syndrome 37	Microphthalmia, Hypoplasia of the corpus callosum	OMIM:619185
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior	ORPHA:309246
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Bilateral microph...	ORPHA:33364
Oculoectodermal Syndrome	Hyperactivity, Supernumerary nipple, Hyperpigmented streaks, Chorioretinal atrophy, Pineal cyst, ...	OMIM:600268
Holoprosencephaly 7	Microcephaly, Partial agenesis of the corpus callosum, Bilateral microphthalmos, Microphthalmia, ...	OMIM:610828
Mowat-Wilson Syndrome	Cataract, Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Mic...	OMIM:235730
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Alagille Syndrome	Keratoconus, Corneal dystrophy, Cryptorchidism, Abnormal pupil morphology, Abnormality of the ure...	ORPHA:52
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Microcephaly, Chorioretinal coloboma, Microphthalmia, Cy...	OMIM:157170
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo...	ORPHA:959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Buphthalmos, Coloboma, Hypopla...	OMIM:253280
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacc...	ORPHA:534
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism, Microcephaly	ORPHA:1352
Cockayne Syndrome Type 3	Cerebral white matter atrophy, Cataract, Progressive neurologic deterioration, Basal ganglia calc...	ORPHA:90324
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos	ORPHA:369891
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Seckel Syndrome 2	Microphthalmia, Microcephaly	OMIM:606744
Aicardi Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Optic disc coloboma, Chorioretinal colobom...	ORPHA:50
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokines...	OMIM:610217
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	ORPHA:2250
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Incontinentia Pigmenti	Cataract, Corneal opacity, Keratitis, Cognitive impairment, Attention deficit hyperactivity disor...	ORPHA:464
Monosomy 13Q14	Cataract, Microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Iris coloboma	ORPHA:1587
Proteus Syndrome	Central heterochromia, Neoplasm of the thymus, Renal cyst, Abnormality of skin pigmentation, Chor...	ORPHA:744
Focal Dermal Hypoplasia	Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Cognitive impair...	ORPHA:2092
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Schizencephaly, Corneal opacity, Cortical dysplasia, Porencephalic cyst, Polycoria, Leukoencephal...	OMIM:175780
Oculodentodigital Dysplasia	Neurogenic bladder, Cataract, Ataxia, Hypoglycemia, Optic atrophy, Abnormality iris morphology, M...	ORPHA:2710
Cockayne Syndrome	Urinary incontinence, Progressive gait ataxia, Lentiglobus, Retinal arteriolar constriction, Reti...	ORPHA:191
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic disc coloboma, Microcornea...	ORPHA:141099
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
1P36 Deletion Syndrome	Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Hypothyroidism, Ocular albinism, Poly...	ORPHA:1606
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Polymicrogyria, Unilateral microphthalmos, Microcephaly	OMIM:618874
Joubert Syndrome 14	Microphthalmia, Hypoplasia of the corpus callosum, Coloboma	OMIM:614424
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Microcornea, Retinal coloboma, Hydranencephaly, Iris coloboma	ORPHA:2839
Heart And Brain Malformation Syndrome	Microphthalmia, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly	OMIM:616920
Fetal Alcohol Syndrome	Microphthalmia, Cognitive impairment, Microcephaly	ORPHA:1915
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Basal ganglia calcification, Developmental cataract	OMIM:127000
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Microcephaly, Cortical dysplasia, Bilateral microphthalmos, Simplified gy...	ORPHA:468631
Monosomy 18P	Microphthalmia, Microcephaly	ORPHA:1598
Phace Association	Microphthalmia, Optic nerve hypoplasia, Developmental cataract	OMIM:606519
3P25.3 Microdeletion Syndrome	Microphthalmia, Cerebral white matter atrophy, Attention deficit hyperactivity disorder	ORPHA:435638
Oculodentodigital Dysplasia	Cataract, Microcephaly, Basal ganglia calcification, Microcornea, Abnormal cerebral white matter ...	OMIM:164200
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Holoprosencephaly 1	Microphthalmia, Cyclopia, Agenesis of corpus callosum, Microcephaly	OMIM:236100
Duane-Radial Ray Syndrome	Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:607323
Meckel Syndrome	Anophthalmia, Cataract, Sclerocornea, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus...	ORPHA:564
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Hypoplasia of the corpus callosum, Microcephaly	OMIM:611134
Fanconi Anemia, Complementation Group D2	Microcephaly, Attention deficit hyperactivity disorder, Hypoplasia of the corpus callosum, Microp...	OMIM:227646
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Cataract	OMIM:302960
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Polycoria, Mi...	OMIM:180500
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Corneal opacity, Absent septum pellucidum, Sclerocornea, Microcephaly, Microphthalm...	ORPHA:2556
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
2Q31.1 Microdeletion Syndrome	Microcephaly, Optic disc coloboma, Coloboma, Microphthalmia, Iris coloboma, Cerebral cortical atr...	ORPHA:251014
Fanconi Anemia, Complementation Group S	Microphthalmia, Microcephaly	OMIM:617883
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Attention deficit hyperactivity disorder	ORPHA:404440
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Hallermann-Streiff Syndrome	Cataract, Microcephaly, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:234100
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Renal cyst, Chorioretinal hypopigmentation, Pheochromocytoma, Carcino...	ORPHA:805
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Lymphedema-Distichiasis Syndrome	Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions	OMIM:153400
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Microcephaly, Phthisis bulbi, Absent anterior chamber of the eye, Microph...	OMIM:259770
Charcot-Marie-Tooth Disease Type 1E	Inability to walk, Abnormal pupil morphology, Anisocoria, Steppage gait, Gait disturbance, Gait i...	ORPHA:90658
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Incontinentia Pigmenti	Hypoplasia of the fovea, Cataract, Microcephaly, Keratitis, Microphthalmia	OMIM:308300
Holoprosencephaly 9	Anophthalmia, Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Partial agenesis ...	OMIM:610829
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microcephaly, Hypoplastic anterior commissure, Coloboma, Hypoplasia of the corpus callosum, Peter...	OMIM:616975
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Attention deficit hyperactivity disorder, Microcephaly	OMIM:620098
Dubowitz Syndrome	Short attention span, Microcephaly, Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris co...	OMIM:223370
Jacobsen Syndrome	Microcephaly, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:147791
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microphthalmia, Agenesis of c...	ORPHA:2538
Neu-Laxova Syndrome 1	Cataract, Lissencephaly, Primary microcephaly, Hydranencephaly, Microphthalmia, Pterygium, Agenes...	OMIM:256520
Moebius Syndrome	Microphthalmia	OMIM:157900
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Ataxia, Optic atrophy, Anisocoria, Adrenocorticotropin rece...	OMIM:231550
Monosomy 9Q22.3	Microphthalmia, Cataract, Calcification of falx cerebri	ORPHA:77301
Hermansky-Pudlak Syndrome 10	Ocular albinism, Albinism	OMIM:617050
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Iris coloboma, Calcification of falx cerebri	OMIM:109400
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Ataxia, Urinary incontinence, Bradykinesia, Urinary urgency, Impotence	OMIM:146500
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity, Microcephaly	ORPHA:364577
Meckel Syndrome, Type 5	Microphthalmia, Anencephaly	OMIM:611561
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Cataract, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced beh...	ORPHA:353281
White-Kernohan Syndrome	Dysplastic corpus callosum, Attention deficit hyperactivity disorder	OMIM:619426
Cohen Syndrome	Microphthalmia, Iris coloboma, Microcephaly	ORPHA:193
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:241410
Mosaic Trisomy 9	Microphthalmia, Corneal opacity, Microcephaly	ORPHA:99776
Holoprosencephaly	Anophthalmia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Chorioretinal coloboma, Co...	ORPHA:2162
Mosaic Variegated Aneuploidy Syndrome	Cataract, Corneal opacity, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Microphthalmia	ORPHA:1052
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy, Reticular hyperpigmentation	OMIM:618165
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria, Dysphagia	OMIM:300858
Lenz-Majewski Hyperostotic Dwarfism	Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:151050
Fryns Syndrome	Microphthalmia, Agenesis of corpus callosum, Opacification of the corneal stroma	OMIM:229850
Galloway-Mowat Syndrome 3	Microcephaly, Simplified gyral pattern, Cerebral atrophy, Lissencephaly, Hypoplasia of the corpus...	OMIM:617729
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Collagenoma, Familial Cutaneous	Iris atrophy, Primary testicular failure	OMIM:115250
Joubert Syndrome 2	Microphthalmia, Optic disc coloboma, Chorioretinal coloboma, Abnormal corpus callosum morphology	OMIM:608091
Down Syndrome	Brushfield spots, Hypothyroidism	OMIM:190685
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	OMIM:184705
Witteveen-Kolk Syndrome	Cataract, Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Anisocoria, Hypoplasia of...	OMIM:613406
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Yunis-Varon Syndrome	Cataract, Sclerocornea, Bilateral microphthalmos, Hypoplasia of the frontal lobes, Primary microc...	ORPHA:3472
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair	OMIM:608233
Cerebrooculofacioskeletal Syndrome 4	Polymicrogyria, Bilateral microphthalmos, Simplified gyral pattern, Microcephaly	OMIM:610758
Cockayne Syndrome B	Microcephaly, Basal ganglia calcification, Cerebral atrophy, Developmental cataract, Hypoplasia o...	OMIM:133540
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Anophthalmia	ORPHA:3412
Meckel Syndrome, Type 1	Microcephaly, Anencephaly, Microphthalmia, Agenesis of corpus callosum, Iris coloboma, Cerebral h...	OMIM:249000
Mend Syndrome	Microphthalmia, Cataract, Hypoplasia of the corpus callosum	ORPHA:401973
Rothmund-Thomson Syndrome, Type 2	Microcornea, Microphthalmia, Cataract, Zonular cataract	OMIM:268400
Cousin Syndrome	Microcornea, Microphthalmia, Hydranencephaly	OMIM:260660
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Dyskeratosis Congenita, Autosomal Recessive 2	Reticulated skin pigmentation, Testicular atrophy	OMIM:613987
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly	OMIM:603194
Ritscher-Schinzel Syndrome 3	Microphthalmia, Chorioretinal coloboma	OMIM:619135
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Microcephaly-Micromelia Syndrome	Microphthalmia, Microcephaly, Simplified gyral pattern, Aplasia/Hypoplasia of the corpus callosum	OMIM:251230
Cat Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:115470
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cataract, Coloboma	OMIM:603457
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Neurooculorenal Syndrome	Iris atrophy, Ectopic posterior pituitary, Decreased circulating cortisol level, Unilateral renal...	OMIM:620305
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Microcephaly	OMIM:612530
Focal Dermal Hypoplasia	Anophthalmia, Ectopia lentis, Microcephaly, Chorioretinal coloboma, Aniridia, Microphthalmia, Age...	OMIM:305600
Monosomy 9P	Microphthalmia, Agenesis of corpus callosum, Microcephaly	ORPHA:261112
Revesz Syndrome	Ataxia, Fine, reticulate skin pigmentation, Leukocoria, Exudative retinopathy, Megalocornea	OMIM:268130
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Fanconi Anemia, Complementation Group R	Microphthalmia, Microcephaly	OMIM:617244
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Cyclopia, Iris coloboma, Microcephaly	ORPHA:3186
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Ectopic kidney, Cryptorchidism, Inability to walk, Patchy hypo- and hyperpigmentatio...	ORPHA:3063
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Hallermann-Streiff Syndrome	Microphthalmia, Microcephaly, Developmental cataract	ORPHA:2108
Frontonasal Dysplasia 2	Microphthalmia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:613451
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Townes-Brocks Syndrome	Cataract, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Agenesis of corpus callosum, Ir...	ORPHA:857
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Zttk Syndrome	Dysplastic corpus callosum, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Abno...	OMIM:617140
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Microcephaly, Anophthalmia, Cataract	ORPHA:2526
Microphthalmia, Syndromic 2	Anophthalmia, Remnants of the hyaloid vascular system, Microcephaly, Phthisis bulbi, Developmenta...	OMIM:300166
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Cataract, Microcephaly	OMIM:620005
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Microcephaly	ORPHA:2728
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Treacher-Collins Syndrome	Microphthalmia, Cataract, Iris coloboma	ORPHA:861
Autosomal Dominant Kenny-Caffey Syndrome	Basal ganglia calcification, Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Roberts Syndrome	Microphthalmia, Cataract, Microcephaly	ORPHA:3103
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616734
Pallister-Hall Syndrome	Microphthalmia, Hypothalamic hamartoma	OMIM:146510
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce...	OMIM:263650
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe...	OMIM:608328
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Renpenning Syndrome 1	Cataract, Microcephaly, Cerebral atrophy, Coloboma, Microphthalmia	OMIM:309500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Cataract, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Cataract, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal ...	ORPHA:353277
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Microphthalmia, Agenesis of co...	OMIM:236680
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic nerve hypoplasia, Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral w...	ORPHA:500150
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Cyclopia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2166
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Thick corpus callosum	OMIM:300967
Tetraamelia Syndrome 1	Microphthalmia, Cataract	OMIM:273395
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Neonatal Marfan Syndrome	Iridodonesis, Megalocornea, Decreased testicular size, Ectopia lentis	ORPHA:284979
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal pupil morphology, Large basal ganglia, Microcornea, Agenesis of corpus callosum, Iris co...	ORPHA:261552
Microphthalmia, Syndromic 6	Anophthalmia, Sclerocornea, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Microcornea,...	OMIM:607932
Lowe Oculocerebrorenal Syndrome	Periventricular cysts, Corneal scarring, Developmental cataract, Microphthalmia, Dense posterior ...	OMIM:309000
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Focal hypointensity of cerebral white matter on MRI, Cerebral white matter hypoplasia, ...	ORPHA:261537
Myhre Syndrome	Microphthalmia, Cataract, Microcephaly	OMIM:139210
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity, Microcephaly	OMIM:608670
22Q11.2 Deletion Syndrome	Cataract, Microcephaly, Attention deficit hyperactivity disorder, Microphthalmia, Posterior embry...	ORPHA:567
Fanconi Anemia	Cataract, Microcephaly, Aplasia/Hypoplasia of the iris, Astigmatism, Microphthalmia	ORPHA:84
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
Fanconi Anemia, Complementation Group F	Microphthalmia, Microcephaly	OMIM:603467
Charge Syndrome	Anophthalmia, Microcephaly, Chorioretinal coloboma, Attention deficit hyperactivity disorder, Mic...	ORPHA:138
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	ORPHA:466791
Fanconi Anemia, Complementation Group E	Microphthalmia, Microcephaly	OMIM:600901
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Microcephaly, Nuclear pulverulent cataract, Microphthalmia	OMIM:612474
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Pinealoma	OMIM:180200
Fanconi Anemia, Complementation Group A	Microphthalmia, Microcephaly	OMIM:227650
Teebi-Shaltout Syndrome	Microphthalmia, Microcephaly	OMIM:272950
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Mowat-Wilson Syndrome	Focal cortical dysplasia, Cataract, Microcephaly, Large basal ganglia, Abnormal cerebral white ma...	ORPHA:2152
Adams-Oliver Syndrome 1	Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Microphthalmia, Pachygyria, ...	OMIM:100300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Antecubital pterygium, Microcephaly	OMIM:609945
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Degcags Syndrome	Microphthalmia, Agenesis of corpus callosum, Microcephaly	OMIM:619488
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	OMIM:620186
Fanconi Anemia, Complementation Group C	Microphthalmia, Microcephaly	OMIM:227645
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Fanconi Anemia, Complementation Group L	Microphthalmia, Attention deficit hyperactivity disorder	OMIM:614083
Charge Syndrome	Anophthalmia, Cataract, Microcephaly, Unilateral microphthalmos, Coloboma, Retinal coloboma, Micr...	OMIM:214800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Branchiooculofacial Syndrome	Anophthalmia, Cataract, Microcephaly, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:113620
Fraser Syndrome 1	Anophthalmia, Corneal opacity, Abnormal cortical gyration, Microcephaly, Bilateral microphthalmos	OMIM:219000
Craniofacial Microsomia 1	Limbal dermoid, Microphthalmia, Anophthalmia, Agenesis of corpus callosum	OMIM:164210
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Microcephaly, Coloboma, Opacification of the corneal stroma, Microphth...	OMIM:268300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Fontaine Progeroid Syndrome	Microphthalmia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:612289
Pallister-Hall Syndrome	Abnormal basal ganglia MRI signal intensity, Microphthalmia, Hypothalamic hamartoma, Abnormal cor...	ORPHA:672
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Microphthalmia, Syndromic 1	Anophthalmia, Microcephaly, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretina...	OMIM:309800
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Vascular Ehlers-Danlos Syndrome	Keratoconus, Hypospadias, Cryptorchidism, Abnormal pupil morphology, Cystocele, Renovascular hype...	ORPHA:286
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Bilateral microphthalmos, Secondary microcephaly, Retinal coloboma, Hypop...	ORPHA:508488
Fraser Syndrome	Microphthalmia, Anophthalmia, Microcephaly	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 spermatogenesis defect	Abi2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult
Testis - MPATH pathological process term dysplasia	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.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Abi2 MGI:106913

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Eye Morphology

Gross Pathology and Tissue Collection

Histopathology

X-ray

Eye Morphology

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Abi2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data