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Gene: Hsf4 MGI:1347058

Gene Summary

Name:

heat shock transcription factor 4

Synonyms:

ldis1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal cornea morphology	Hsf4^{tm1b(KOMP)Wtsi}	HOM	Early adult	9.48×10^-06
irregularly shaped pupil	Hsf4^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.55×10^-05
abnormal lens morphology	Hsf4^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.14×10^-16
increased circulating alanine transaminase level	Hsf4^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.23×10^-05
abnormal iris pigmentation	Hsf4^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.00×10^-20
cataract	Hsf4^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.31×10^-18

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Epididymis	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	0.0% (0 of 2)
Thalamus	N/A	heterozygote	100% (2 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	homozygote	0.0% (0 of 1)
Dorsal root ganglion	N/A	heterozygote	0.0% (0 of 1)
Dorsal root ganglion	N/A	homozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	0.0% (0 of 1)
Embryo	N/A	heterozygote	0.0% (0 of 2)
Embryo	N/A	homozygote	0.0% (0 of 1)
Eye	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	homozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	homozygote	0.0% (0 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Forelimb	N/A	homozygote	0.0% (0 of 1)
Fronto-nasal process	N/A	heterozygote	0.0% (0 of 1)
Fronto-nasal process	N/A	homozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 2)
Head	N/A	homozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	homozygote	0.0% (0 of 1)
Hindbrain	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	homozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	homozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	0.0% (0 of 1)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	homozygote	0.0% (0 of 1)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	0.0% (0 of 1)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	0.0% (0 of 1)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	homozygote	0.0% (0 of 1)
Nose	N/A	heterozygote	0.0% (0 of 1)
Nose	N/A	homozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	0.0% (0 of 1)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	0.0% (0 of 1)
Spinal cord	N/A	heterozygote	0.0% (0 of 1)
Spinal cord	N/A	homozygote	0.0% (0 of 1)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	0.0% (0 of 1)
Tail	N/A	heterozygote	0.0% (0 of 2)
Tail	N/A	homozygote	0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
submandibular gland	0.0%
testis	0.0%
thalamus	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
urinary bladder
uterus	0.0%
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
dorsal root ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
fronto-nasal process	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

40 Images

View images

Adult LacZ

LacZ Images Section

10 Images

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Sleep Wake

Wake state (bmp file)

16 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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X-ray

XRay Images Forepaw

10 Images

View images

Electroretinography

Cone waveform (pdf format)

4 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Electroretinography

Rod waveform (pdf format)

4 Images

View images

Human diseases caused by Hsf4 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 Hsf4 (1 diseases)
Human diseases predicted to be associated with Hsf4 (974 diseases)

The table below shows human diseases associated to Hsf4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cataract 5, Multiple Types		Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800

The table below shows human diseases predicted to be associated to Hsf4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Cataract 44	Developmental cataract	OMIM:616509
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
Trichomegaly	Cataract	OMIM:190330
Cataract 7	Developmental cataract	OMIM:115660
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Nathalie Syndrome	Cataract	ORPHA:2663
X-Linked Retinoschisis	Cataract	ORPHA:792
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Foveal Hypoplasia 1	Presenile cataracts, Hypoplasia of the fovea	OMIM:136520
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Tietz Albinism-Deafness Syndrome	Heterochromia iridis, White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation	OMIM:103500
Cataract-Ataxia-Deafness-Retardation Syndrome	Developmental cataract	OMIM:212710
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Galactosemia Ii	Cataract	OMIM:230200
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Galactosemia Iv	Cataract	OMIM:618881
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Microcornea, Glaucoma, And Absent Frontal Sinuses	Microcornea	OMIM:156700
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Microphthalmia/Coloboma 7	Iris coloboma, Microphthalmia	OMIM:614497
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy	OMIM:121820
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Cataract, Microphakia	ORPHA:171844
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Anophthalmia, Microphthalmia	OMIM:616428
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Persistent p...	ORPHA:1067
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Cataract 47	Cataract, Microcornea	OMIM:612018
Nathalie Syndrome	Cataract	OMIM:255990
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigm...	OMIM:619165
Corneal Dystrophy, Lattice Type I	Recurrent corneal erosions, Lattice corneal dystrophy	OMIM:122200
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Corneal Dystrophy, Avellino Type	Lattice corneal dystrophy	OMIM:607541
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Dermochondrocorneal Dystrophy	Corneal dystrophy	ORPHA:79149
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Microcornea, Corneal opacity	ORPHA:2432
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Microphthalmia	OMIM:120433
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Adult-Onset Foveomacular Vitelliform Dystrophy	Iris hypopigmentation, Choroideremia	ORPHA:99000
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation	ORPHA:370097
Foveal Hypoplasia 2	Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia	OMIM:609218
Microphthalmia, Syndromic 16	Sclerocornea, Anophthalmia, Microphthalmia	OMIM:611038
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Hypomyelination-Congenital Cataract Syndrome	Developmental cataract	ORPHA:85163
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Congenital Primary Aphakia	Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm...	ORPHA:83461
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Premature graying of hair	ORPHA:66633
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Weill-Marchesani Syndrome 3	Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:614819
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Methionine Malabsorption Syndrome	Positive ferric chloride test, Blue irides, White hair	OMIM:250900
Cataract-Deafness-Hypogonadism Syndrome	Developmental cataract	ORPHA:1383
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Sclerocornea, Ocular anterior ...	OMIM:269400
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o...	OMIM:604229
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	ORPHA:101082
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia	OMIM:278780
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Progressive Hemifacial Atrophy	Heterochromia iridis, Irregular hyperpigmentation	ORPHA:1214
Microphthalmia/Coloboma 5	Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Macular Dystrophy, Corneal	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy	OMIM:217800
Cataract-Hypertrichosis-Intellectual Disability Syndrome	Developmental cataract	ORPHA:1375
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia	ORPHA:2528
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Griscelli Syndrome Type 1	Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia	ORPHA:79476
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis	OMIM:110150
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Peroxisome Biogenesis Disorder 10A (Zellweger)	Cataract	OMIM:614882
Corneal Dystrophy, Lattice Type Iiia	Corneal erosion, Lattice corneal dystrophy	OMIM:608471
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Iris coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia	OMIM:610023
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract	ORPHA:67048
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Aniridia 3	Cataract, Aniridia	OMIM:617142
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Freckling, Giant ...	ORPHA:54
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Cornea Plana 2, Autosomal Recessive	Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic...	OMIM:217300
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Elevated circulating creatine kinase concentration	OMIM:609115
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Cataract 48	Cataract	OMIM:618415
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Phenylketonuria	Cataract, Fair hair, Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Blue irides, Generali...	OMIM:261600
Woolly Hair	Cataract, Hypopigmentation of hair, Abnormal pupil morphology	ORPHA:170
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Macular hypoplasia...	OMIM:612109
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Usher Syndrome Type 1	Iris hypopigmentation, Cataract	ORPHA:231169
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Chorioretinal coloboma, White forelock, Numerous pigmented freckles, Iris coloboma, ...	OMIM:601706
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	OMIM:160565
Corneal Dystrophy, Fleck	Speckled corneal dystrophy	OMIM:121850
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Facial Spasm	Anisocoria	OMIM:134300
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Iris coloboma, Microphthalmia	ORPHA:231736
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, Abnormal morphology of the choroidal...	ORPHA:352731
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia	ORPHA:324416
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:1473
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Morquio Syndrome C	Corneal opacity	OMIM:252300
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Woolly Hair Nevus	Heterochromia iridis, Patchy hypopigmentation of hair, Persistent pupillary membrane	ORPHA:79414
Morm Syndrome	Cataract	ORPHA:75858
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal guttata, Corneal degeneration, Corneal dystrophy	OMIM:610158
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Corneal Dystrophy, Congenital Stromal	Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A...	OMIM:600886
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract	ORPHA:85288
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Microphthalmia	OMIM:300915
Piebald Trait-Neurologic Defects Syndrome	Heterochromia iridis, Hypopigmentation of hair, Irregular hyperpigmentation, Hypopigmented skin p...	ORPHA:2885
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Microphthalmia	OMIM:601794
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract	OMIM:614292
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Microphthalmia, Isolated 5	Cataract, Microphthalmia	OMIM:611040
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal...	OMIM:613270
Cataract 2, Multiple Types	Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c...	OMIM:604307
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Microphthalmia	ORPHA:209956
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Microphthalmia	ORPHA:363741
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Cardiomyopathy, Dilated, 1Ii	Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal guttata, Corneal dystrophy	OMIM:613268
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Shallow anterior chamber, Microphthalmia	OMIM:267760
Gombo Syndrome	Microphthalmia	OMIM:233270
Insulinomatosis And Diabetes Mellitus	Developmental glaucoma, Developmental cataract	OMIM:147630
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia	OMIM:275400
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract	OMIM:193230
Corneal Dystrophy, Gelatinous Drop-Like	Corneal dystrophy	OMIM:204870
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract	ORPHA:2489
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Fish-Eye Disease	Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea	OMIM:617272
Stickler Syndrome, Type V	Cataract	OMIM:614284
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology, Microphthalmia	ORPHA:1617
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract	OMIM:620425
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu...	ORPHA:3214
Coats Disease	Leukocoria	OMIM:300216
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A...	ORPHA:263479
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma	OMIM:212550
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria, Retinal pigment epithelial mottling	OMIM:619649
Wagner Vitreoretinopathy	Cataract	OMIM:143200
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Cataract	OMIM:620461
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Microphthalmia	OMIM:616171
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy	OMIM:602082
Developmental And Epileptic Encephalopathy 35	Cataract	OMIM:616647
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411515
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Albinism-Deafness Syndrome	Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism	OMIM:300700
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract	ORPHA:39044
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Microphthalmia	OMIM:251270
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Developmental cataract	OMIM:600559
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Ectopia Lentis 1, Isolated, Autosomal Dominant	Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:129600
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Griscelli Syndrome Type 2	Iris hypopigmentation, Premature graying of hair, Partial albinism, Hyperlipidemia, Hypopigmentat...	ORPHA:79477
Supernumerary Nostril	Microcornea, Developmental cataract	ORPHA:141096
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Achromatopsia 3	Cataract	OMIM:262300
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Cataract, Microcornea, Generalized hypopigmentation	OMIM:617306
Waardenburg Syndrome, Type 3	Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch...	OMIM:148820
Otodental Syndrome	Cataract, Microcornea, Microphthalmia, Lens coloboma, Iris coloboma	ORPHA:2791
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract, Elevated circulating creatine kinase concentration	OMIM:615352
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Retinitis Pigmentosa 4	Cataract	OMIM:613731
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Microphthalmia	OMIM:613730
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla...	OMIM:106210
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormality of retinal pigmentation	ORPHA:1390
Nail-Patella Syndrome	Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia	OMIM:161200
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Brushfield spots, Iris coloboma	ORPHA:1791
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi...	OMIM:203100
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity	OMIM:608470
Nanophthalmos	Microphthalmia	ORPHA:35612
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Ocular albinism, Hypoplasia of the iris, Prema...	OMIM:611584
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Cofs Syndrome	Cataract, Microphthalmia	ORPHA:1466
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Phacoanaphylactic Uveitis	Anterior chamber flare grade 1+, Posterior uveitis, Hypopyon, Panuveitis, Posterior synechiae of ...	ORPHA:209959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Hermansky-Pudlak Syndrome 11	Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Iris transillumination defect	OMIM:619172
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Alexander Disease	Microcoria	OMIM:203450
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Cataract	OMIM:608227
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Nance-Horan Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:627
Dermatitis, Atopic	Conjunctivitis, Keratoconus, Cataract	OMIM:603165
Usher Syndrome Type 2	Iris hypopigmentation, Cataract	ORPHA:231178
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cataract	OMIM:616154
Nanophthalmos 4	Microphthalmia	OMIM:615972
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Leber Congenital Amaurosis 2	Cataract, Keratoconus	OMIM:204100
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
1Q21.1 Microduplication Syndrome	Cataract	ORPHA:250994
Axenfeld-Rieger Syndrome, Type 3	Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ...	OMIM:602482
Cone-Rod Dystrophy 16	Cataract	OMIM:614500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Developmental cataract, Microphthalmia	OMIM:613155
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Cerebrooculofacioskeletal Syndrome 2	Cataract, Developmental cataract, Microphthalmia	OMIM:610756
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, White hair, Ocular albinism, Generalized hypopigmentation	ORPHA:2720
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Microphthalmia	OMIM:618805
Leber Congenital Amaurosis	Cataract, Keratoconus	ORPHA:65
Late-Onset Retinal Degeneration	Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab...	ORPHA:67042
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Retinopathy Of Prematurity	Cataract	ORPHA:90050
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Anophthalmia, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:139471
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Microphthalmia, Syndromic 5	Cataract, Microcornea, Anophthalmia, Microphthalmia, Optic nerve hypoplasia	OMIM:610125
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma	OMIM:216820
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract	ORPHA:329314
Lissencephaly 8	Cataract, Microphthalmia	OMIM:617255
Stiff Skin Syndrome	Cataract	OMIM:184900
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Posterior subcapsular cataract	OMIM:615458
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Cataract	ORPHA:3433
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract, Elevated circulating creatine kinase concentration	OMIM:617404
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Short Syndrome	Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ...	ORPHA:3163
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613266
Long-Olsen-Distelmaier Syndrome	Cataract, Microspherophakia, Optic nerve hypoplasia	OMIM:620609
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cataract	ORPHA:85172
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Astigmatism, Microphthalmia	OMIM:619694
Hermansky-Pudlak Syndrome 8	Silver-gray hair, Albinism, Myopic astigmatism, Ocular albinism, Astigmatism, Blue irides, Genera...	OMIM:614077
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract	OMIM:616108
Gyrate Atrophy Of Choroid And Retina	Cataract, Hyperornithinemia, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal degenerat...	ORPHA:414
Neovascular Glaucoma	Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio...	ORPHA:94058
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
Riboflavin Transporter Deficiency	Iris hypopigmentation	ORPHA:97229
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract	ORPHA:1345
Free Sialic Acid Storage Disease	Iris hypopigmentation, Abnormality of skin pigmentation	ORPHA:834
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Cat-Eye Syndrome	Iris coloboma, Microphthalmia	ORPHA:195
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:48431
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
Oculopalatocerebral Syndrome	Leukocoria	OMIM:257910
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal...	ORPHA:91495
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Hyperthreoninemia, Cataract	OMIM:204000
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Myopathy, Distal, 7, Adult-Onset, X-Linked	Cataract	OMIM:301075
Mevalonic Aciduria	Cataract	ORPHA:29
Rodrigues Blindness	Sclerocornea, Microcornea, Microphthalmia	OMIM:268320
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Albinism, Ocular albinism	OMIM:614074
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Proteus-Like Syndrome	Cataract, Irregular hyperpigmentation, Abnormal pupil morphology, Heterochromia iridis, Limbal de...	ORPHA:2969
Microphthalmia/Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma	OMIM:615145
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract	OMIM:132450
Edinburgh Malformation Syndrome	Brushfield spots	ORPHA:1895
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Cataract, Band keratopathy, Hyperamylasemia	OMIM:604278
Juvenile Xanthogranuloma	Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Iritis	ORPHA:158000
Oculocutaneous Albinism Type 5	Ocular albinism	ORPHA:370091
Griscelli Syndrome	Iris hypopigmentation, Silver-gray hair, Hypopigmented skin patches, White hair, Premature grayin...	ORPHA:381
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Iris coloboma, Ectopia lentis	ORPHA:1259
Senior-Loken Syndrome	Cataract	ORPHA:3156
Warburg Micro Syndrome 1	Microcornea, Developmental cataract, Microphthalmia	OMIM:600118
Kniest Dysplasia	Aplasia/Hypoplasia of the lens, Cataract, Lens luxation	ORPHA:485
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Bartsocas-Papas Syndrome 2	Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium	OMIM:619339
Limbal Stem Cell Deficiency	Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea...	ORPHA:171673
Vitreoretinochoroidopathy	Microphthalmia, Microcornea, Developmental cataract, Pulverulent cataract	OMIM:193220
Axenfeld-Rieger Syndrome, Type 1	Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of...	OMIM:180500
Neuhauser Syndrome	Hypoplasia of the iris, Megalocornea, Iridodonesis, Hypercholesterolemia, Iris transillumination ...	OMIM:249310
Flynn-Aird Syndrome	Cataract	OMIM:136300
Congenital Rubella Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Microphthalmia	ORPHA:290
Generalized Eruptive Keratoacanthoma	Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca	ORPHA:411777
Microphthalmia/Coloboma 12	Optic nerve aplasia, Peters anomaly, Microphthalmia, Corneal opacity	OMIM:120200
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Crome Syndrome	Developmental cataract	OMIM:218900
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cataract, Microphthalmia	OMIM:301108
Leukodystrophy, Hypomyelinating, 24	Cataract	OMIM:619851
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy	ORPHA:1806
Nance-Horan Syndrome	Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia	OMIM:302350
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Increased phy...	OMIM:614307
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Posterior subcapsular cataract	OMIM:300619
Monilethrix	Cataract	ORPHA:573
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris	ORPHA:893
Combined Oxidative Phosphorylation Deficiency 13	Cataract	OMIM:614932
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Elevated circulating long ...	OMIM:214110
Infantile Spasms-Broad Thumbs Syndrome	Cataract	ORPHA:3173
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Microphthalmia	ORPHA:93267
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Deafness-Hypogonadism Syndrome	Heterochromia iridis	ORPHA:90646
Tonne-Kalscheuer Syndrome	Blue irides	OMIM:300978
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
Hypoparathyroidism, Familial Isolated, 1	Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Cataract, Elevated circulating creatine kinase concentration	OMIM:615350
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Microphthalmia	OMIM:618914
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis, Abnormal circulating phytanic acid concentration	ORPHA:247815
Retinitis Pigmentosa 2	Cataract	OMIM:312600
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Hyponatremia, Corneal opacity, Corneal erosion	ORPHA:1764
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Microphthalmia	OMIM:613153
Cataract 49	Posterior cortical cataract	OMIM:619593
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Zellweger Syndrome	Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots, Abnormal chorioretinal morpho...	ORPHA:912
Joubert Syndrome 9	Cataract, Astigmatism	OMIM:612285
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract	OMIM:302950
Tricho-Retino-Dento-Digital Syndrome	Juvenile cataract	ORPHA:1264
Autosomal Recessive Stickler Syndrome	Cataract, Astigmatism	ORPHA:250984
Autosomal Recessive Spastic Paraplegia Type 26	Cataract	ORPHA:101006
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity, Microphthalmia	OMIM:152950
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Ocular albinism, Choroideremia, Corneal opacity, Hypopigmentatio...	ORPHA:2719
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity	ORPHA:284160
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Cataract, Elevated circulating creatine kinase concentration	OMIM:615704
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, White forelock, Heterochromia ...	ORPHA:894
Hemochromatosis, Type 4	Cataract, Elevated transferrin saturation, Hyperpigmentation of the skin, Increased circulating f...	OMIM:606069
Temtamy Syndrome	Iris coloboma, Microphthalmia	ORPHA:1777
Lissencephaly 5	Cataract	OMIM:615191
Microcephalic Primordial Dwarfism, Toriello Type	Cataract	ORPHA:2643
Hypomelanosis Of Ito	Cataract, Iris coloboma	OMIM:300337
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Cafe-au-lait spot, Blue irides	ORPHA:3041
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Sclerocornea, Cataract, Microcornea, Ectopia pupillae	OMIM:615877
Mmep Syndrome	Microphthalmia	ORPHA:3434
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411511
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Developmental cataract	ORPHA:436174
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease...	OMIM:614170
Acrofrontofacionasal Dysostosis	Brushfield spots, Hypopigmented skin patches	ORPHA:1784
Baralle-Macken Syndrome	Cataract	OMIM:619255
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma, Microphthalmia	OMIM:169550
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Herpes Simplex Virus Stromal Keratitis	Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea...	ORPHA:137599
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Cataract, Abnormal cornea morphology, Iris coloboma	ORPHA:2611
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Neurotrophic Keratopathy	Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e...	ORPHA:137596
Chromosome 17Q12 Duplication Syndrome	Peters anomaly, Microphthalmia	OMIM:614526
Wyburn-Mason Syndrome	Iris hypopigmentation	ORPHA:53719
Temtamy Syndrome	Ectopia lentis, Iris coloboma, Lens luxation, Microphthalmia	OMIM:218340
Ifap Syndrome 2	Cataract, Keratoconjunctivitis sicca, Keratitis	OMIM:619016
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion	OMIM:614878
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Waardenburg Syndrome, Type 1	Premature graying of hair, Partial albinism, White forelock, Heterochromia iridis, White eyebrow,...	OMIM:193500
Nevus Comedonicus Syndrome	Cataract	ORPHA:64754
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Buphthalmos, Persis...	OMIM:613150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Ocular albinism, Partial albinism,...	ORPHA:79430
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Distal Deletion 6P	Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho...	ORPHA:96125
Laurence-Moon Syndrome	Cataract, Iris coloboma	ORPHA:2377
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj...	OMIM:278730
Microcephaly 10, Primary, Autosomal Recessive	Cataract	OMIM:615095
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Subcapsular cataract	OMIM:612674
Frontonasal Dysplasia 1	Cataract, Microphthalmia	OMIM:136760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Microphthalmia	OMIM:615249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Familial Isolated Hypoparathyroidism	Cataract	ORPHA:2238
Intestinal Botulism	Mydriasis	ORPHA:178481
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Astigmatism, Ectopia pupillae	OMIM:618727
Neurooculocardiogenitourinary Syndrome	Peters anomaly, Microphthalmia	OMIM:618652
Birdshot Chorioretinopathy	Cataract, Choroidal neovascularization, Abnormal choroid morphology, Abnormal chorioretinal morph...	ORPHA:179
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Pseudopseudohypoparathyroidism	Cataract	OMIM:612463
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Cataract, Abnormal circulating creatine kinase concentration	ORPHA:369840
Pierpont Syndrome	Microcornea, Microphthalmia	OMIM:602342
Hermansky-Pudlak Syndrome 4	Albinism, Ocular albinism	OMIM:614073
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Microphthalmia	OMIM:612379
3Q29 Microduplication Syndrome	Cataract, Aniridia, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:251038
Sturge-Weber Syndrome	Abnormal choroid morphology, Heterochromia iridis, Conjunctival telangiectasia, Iris coloboma, Co...	ORPHA:3205
Stickler Syndrome Type 1	Cataract	ORPHA:90653
Vogt-Koyanagi-Harada Disease	Cataract, Hypopigmented skin patches, Premature graying of hair, Vitiligo, Poliosis	ORPHA:3437
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Achondrogenesis Type 2	Lens subluxation, Cataract	ORPHA:93296
Peroxisome Biogenesis Disorder 9B	Cataract	OMIM:614879
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Conjunctivitis, Cataract, Keratitis	OMIM:612843
Noonan Syndrome 13	Multiple lentigines, Cafe-au-lait spot, Blue irides	OMIM:619087
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Corneal opacity, Microphthalmia	ORPHA:2399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Cataract, Elevated circulating creatine kinase concentration	OMIM:615351
Weill-Marchesani Syndrome 1	Cataract, Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:277600
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Phace Syndrome	Cataract, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens coloboma, Iris coloboma, Optic...	ORPHA:42775
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity, Microphthalmia	ORPHA:2788
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract	OMIM:619780
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Exudative Vitreoretinopathy 2, X-Linked	Shallow anterior chamber, Microphthalmia	OMIM:305390
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Adams-Oliver Syndrome 2	Developmental cataract, Microphthalmia	OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Microphthalmia	OMIM:616538
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Hypotriglyceridemia, Ectopia pupillae, Abnormality of retinal pigmentation, Corneal opacity, Lens...	ORPHA:85167
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Cataract	OMIM:162400
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98794
Fish-Eye Disease	Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Duane Retraction Syndrome	Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Chor...	ORPHA:233
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne...	OMIM:601552
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:77298
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno...	ORPHA:3440
Warburg Micro Syndrome 2	Cataract, Microcornea, Developmental cataract, Microphthalmia	OMIM:614225
Warburg Micro Syndrome 3	Cataract, Microcornea, Developmental cataract, Microphthalmia, Shallow anterior chamber	OMIM:614222
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body...	OMIM:609049
Congenital Fibrinogen Deficiency	Developmental cataract, Microphthalmia	ORPHA:335
Rhizomelic Chondrodysplasia Punctata	Cataract	ORPHA:177
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Iatrogenic Botulism	Mydriasis	ORPHA:254509
Trichothiodystrophy 3, Photosensitive	Cataract, Developmental cataract, Microphthalmia	OMIM:616395
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Hermansky-Pudlak Syndrome 7	Albinism, Ocular albinism	OMIM:614076
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia, Corneal opacity, Megalocornea	ORPHA:137675
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria	ORPHA:2714
Wound Botulism	Mydriasis	ORPHA:178475
Dystonia-Deafness Syndrome 1	Cataract	OMIM:607371
Brittle Cornea Syndrome 1	Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Keratoglobus	OMIM:229200
Sandestig-Stefanova Syndrome	Developmental cataract, Microphthalmia	OMIM:618804
Norrie Disease	Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Corneal opacity, Apl...	ORPHA:649
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Microphthalmia	OMIM:614105
Miller Fisher Syndrome	Mydriasis, Anisocoria	ORPHA:98919
Familial Exudative Vitreoretinopathy	Cataract, Microphthalmia	ORPHA:891
Nephronophthisis 11	Anisocoria	OMIM:613550
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Abnormality iris morphology, Megalocornea, Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Exudative Vitreoretinopathy 6	Cataract, Nuclear cataract, Cortical cataract	OMIM:616468
Angelman Syndrome	Iris hypopigmentation, Keratoconus, Hypopigmentation of the skin, Fair hair, Astigmatism	ORPHA:72
Chediak-Higashi Syndrome	Iris hypopigmentation, Silver-gray hair, Hypopigmentation of the skin, Ocular albinism, Giant mel...	OMIM:214500
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Elevated circulating long ...	OMIM:214100
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Persistent pupillary membrane	OMIM:257850
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Noonan Syndrome 4	Blue irides	OMIM:610733
Tetraamelia-Multiple Malformations Syndrome	Cataract, Microcornea, Iris coloboma, Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Inhalational Botulism	Mydriasis	ORPHA:254504
Trisomy 13	Cataract, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Iris coloboma	ORPHA:3378
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cataract	ORPHA:369847
Muscle-Eye-Brain Disease	Cataract, Elevated circulating creatine kinase concentration	ORPHA:588
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Stromme Syndrome	Cataract, Microcornea, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma, Optic nerve h...	OMIM:243605
Lymphedema-Hypoparathyroidism Syndrome	Cataract	OMIM:247410
Oculofaciocardiodental Syndrome	Cataract, Microcornea, Ectopia lentis, Microphthalmia, Iris coloboma	ORPHA:2712
Full Schwannomatosis	Cataract	ORPHA:93921
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Bardet-Biedl Syndrome 9	Cataract, Astigmatism	OMIM:615986
Congenital Fibrosis Of Extraocular Muscles	Cataract, Anisocoria, Abnormal pupil shape	ORPHA:45358
Cerebrooculofacioskeletal Syndrome 1	Cataract, Microphthalmia	OMIM:214150
Bresek Syndrome	Optic nerve hypoplasia, Iris coloboma, Microphthalmia	ORPHA:85284
Knobloch Syndrome 1	Band keratopathy, Chorioretinal atrophy, Iris transillumination defect, Cortical cataract, Develo...	OMIM:267750
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Hyperpigmentation of the skin	OMIM:231550
Warburg Micro Syndrome 4	Microcornea, Developmental cataract, Microphthalmia	OMIM:615663
Weill-Marchesani Syndrome 2	Cataract, Microspherophakia, Ectopia lentis, Astigmatism, Iridodonesis, Shallow anterior chamber,...	OMIM:608328
Galactokinase Deficiency	Cataract, Nuclear cataract, Hypercholesterolemia, Increased level of galactitol in plasma, Hyperg...	ORPHA:79237
Retinitis Pigmentosa 97	Iris atrophy	OMIM:620422
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Cataract, Hyperalaninemia, Elevated circulating creatine kinase concentration	OMIM:615418
Amyloidosis, Finnish Type	Cataract, Lattice corneal dystrophy	OMIM:105120
Curry-Jones Syndrome	Iris coloboma, Microphthalmia	ORPHA:1553
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Microphthalmia	ORPHA:163649
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Opacification...	OMIM:614866
Classic Phenylketonuria	Cataract, Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia	ORPHA:79254
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Charcot-Marie-Tooth Disease Type 1E	Abnormal pupil morphology, Anisocoria	ORPHA:90658
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract	ORPHA:79107
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cataract, Buphthalmos, Elevated circulating creatine kinase concentration	ORPHA:370997
Refsum Disease	Cataract, Microphthalmia	ORPHA:773
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Anterior chamber synechiae	ORPHA:85410
Xeroderma Pigmentosum, Complementation Group B	Cataract, Microphthalmia	OMIM:610651
Koolen-De Vries Syndrome	Iris hypopigmentation, Cataract, Fair hair	OMIM:610443
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract	OMIM:300578
Galactosemia I	Increased level of galactitol in red blood cells, Cataract, Increased level of galactitol in plas...	OMIM:230400
Walker-Warburg Syndrome	Cataract, Microcornea, Anophthalmia, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:899
Harlequin Ichthyosis	Cataract	ORPHA:457
Infant Botulism	Hyponatremia, Mydriasis, Keratoconjunctivitis sicca	ORPHA:178478
Nail-Patella Syndrome	Antecubital pterygium, Primary congenital glaucoma, Abnormal iris pigmentation, Lester's sign	ORPHA:2614
Mietens Syndrome	Sclerocornea, Cataract, Microcornea, Corneal opacity	ORPHA:2557
Rere-Related Neurodevelopmental Syndrome	Iris coloboma, Astigmatism, Peters anomaly, Microphthalmia	ORPHA:494344
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Cadds	Cataract	ORPHA:369942
Botulism	Mydriasis	ORPHA:1267
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Astigmatism, Microphthalmia	OMIM:618571
Spastic Paraplegia 9B, Autosomal Recessive	Cataract	OMIM:616586
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Revesz Syndrome	Fine, reticulate skin pigmentation, Leukocoria, Megalocornea	OMIM:268130
Hermansky-Pudlak Syndrome 6	Albinism, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Iris transillumination...	OMIM:614075
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, E...	OMIM:175780
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Microphthalmia	OMIM:167730
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Posterior synechiae of the anterior chamber	ORPHA:280921
Acrodysostosis 1 With Or Without Hormone Resistance	Melanocytic nevus, Hyperphosphatemia, Blue irides	OMIM:101800
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Foodborne Botulism	Mydriasis	ORPHA:228371
Frontorhiny	Cataract, Iris coloboma, Microphthalmia	ORPHA:391474
Chédiak-Higashi Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Increased circulat...	ORPHA:167
Phace Association	Optic nerve hypoplasia, Developmental cataract, Microphthalmia	OMIM:606519
Baraitser-Winter Cerebrofrontofacial Syndrome	Heterochromia iridis, Microcornea, Iris coloboma	ORPHA:2995
Kapur-Toriello Syndrome	Cataract, Iris coloboma, Microphthalmia	OMIM:244300
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Pigmentary retinopathy, Elevated circulating creatine kinase concentration	ORPHA:79095
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Lens subluxation, Corneal opacity, Ectopia pupillae	OMIM:608940
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju...	ORPHA:163934
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microphthalmia	OMIM:613001
Intermediate Uveitis	Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Anterior uveitis	ORPHA:279914
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:2250
Ruijs-Aalfs Syndrome	Cataract, Posterior subcapsular cataract	OMIM:616200
Micro Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:2510
Dahlberg-Borer-Newcomer Syndrome	Cataract	ORPHA:1563
Kapur-Toriello Syndrome	Iris coloboma, Microphthalmia	ORPHA:2328
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Keratoconjunctivitis sicca, Microphthalmia	OMIM:234050
Retinoblastoma	Hypopyon, Abnormality of retinal pigmentation, Heterochromia iridis, Leukocoria, Uveitis	ORPHA:790
Manitoba Oculotrichoanal Syndrome	Corneopalpebral synechiae, Anophthalmia, Microphthalmia	OMIM:248450
Meckel Syndrome, Type 8	Anophthalmia, Microphthalmia	OMIM:613885
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Microphthalmia, Lenz Type	Cataract, Microcornea, Iris coloboma, Microphthalmia	ORPHA:568
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris...	ORPHA:177907
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract	OMIM:268315
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Microphthalmia	ORPHA:35173
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Autoimmune Hypoparathyroidism	Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Hypocalcemic seiz...	ORPHA:36913
Alpha-Mannosidosis, Adult Form	Cataract, Corneal opacity	ORPHA:309288
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia	ORPHA:2505
Chondrodysplasia Punctata, Autosomal Dominant	Cataract	OMIM:118650
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Kenny-Caffey Syndrome, Type 2	Developmental cataract, Microphthalmia	OMIM:127000
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microcornea, Microphthalmia	OMIM:616449
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98754
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Trichinellosis	Conjunctival hyperemia, Conjunctivitis, Anisocoria, Abnormal uvea morphology	ORPHA:863
Baraitser-Winter Syndrome 1	Iris coloboma, Microphthalmia	OMIM:243310
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Optic nerve hypoplasia, Peters anomaly, Microphthalmia	OMIM:614643
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177901
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria	OMIM:615510
Juvenile Glaucoma	Abnormality iris morphology, Abnormal anterior chamber morphology	ORPHA:98977
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Astigmatism, Microphthalmia	OMIM:609053
Neuroocular Syndrome 1	Cataract, Microcornea, Peters anomaly, Blue irides, Stellate iris, Lens coloboma, Brushfield spot...	OMIM:619539
Chromosome 8Q21.11 Deletion Syndrome	Sclerocornea, Cataract, Microphthalmia	OMIM:614230
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Abnormal pupil morphology, Hyponatremia, Hypokalemia, Hypophosphatemia, Hy...	ORPHA:534
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Trichothiodystrophy 1, Photosensitive	Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	OMIM:601675
Frontofacionasal Dysplasia	Cataract, Microcornea, Iris coloboma, Microphthalmia	OMIM:229400
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Conjunctivitis, Cataract, Corneal scarring	OMIM:226600
Congenital Tufting Enteropathy	Cataract, Punctate keratitis, Corneal erosion	ORPHA:92050
Retinoblastoma	Leukocoria	OMIM:180200
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism, Microphthalmia	ORPHA:1352
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Heterochromia iridis, Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of ...	ORPHA:163746
Leiomyomatosis, Diffuse, With Alport Syndrome	Cataract, Anterior lenticonus, Lenticonus	OMIM:308940
Marfan Syndrome	Cataract, Microspherophakia, Increased axial length of the globe, Ectopia lentis, Hypoplasia of t...	OMIM:154700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Cataract, Elevated circulating alpha-fetoprotein concentration, Hypermethioninem...	ORPHA:247598
Martsolf Syndrome 1	Cataract, Developmental cataract, Microphthalmia	OMIM:212720
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Anophthalmia, Microphthalmia, Sclerocornea, Optic nerve hypoplasia	OMIM:206900
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Neurofibromatosis Type 1	Cataract, Inguinal freckling, Axillary freckling, Hypopigmented skin patches, Chorioretinal colob...	ORPHA:636
3Q29 Microdeletion Syndrome	Cataract, Microphthalmia	ORPHA:65286
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Microphthalmia	OMIM:300952
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes	OMIM:609136
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Cataract, Elevated circulating creatine kinase concentration	ORPHA:363623
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos	ORPHA:369891
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma	OMIM:309801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Peters anomaly, Megalocornea, Corneal opacity, Microphthalmia, Buphthalmos, Optic nerve...	OMIM:236670
Adams-Oliver Syndrome	Cataract, Microphthalmia	ORPHA:974
Hermansky-Pudlak Syndrome 10	Albinism, Ocular albinism	OMIM:617050
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Conjunctivitis, Corneal ulceration, Microphthalmia	OMIM:153400
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Lisch nodules, Juvenile posterior subcapsular lenticula...	OMIM:101000
Papillorenal Syndrome	Cataract, Lens luxation, Microphthalmia	OMIM:120330
Scalp-Ear-Nipple Syndrome	Cataract, Anisocoria, Iris coloboma, Developmental cataract	OMIM:181270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Microphthalmia	OMIM:253800
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Microphthalmia	OMIM:302960
Lymphedema-Distichiasis Syndrome	Conjunctivitis, Cataract, Corneal erosion	ORPHA:33001
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Vici Syndrome	Cataract, Hypopigmentation of the skin, Ocular albinism, Elevated circulating creatine kinase con...	OMIM:242840
1Q21.1 Microdeletion Syndrome	Cataract, Iris coloboma, Microphthalmia	ORPHA:250989
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Multiple cafe-au-lait spots	ORPHA:1556
Serotonin Syndrome	Mydriasis	ORPHA:43116
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae	OMIM:618223
Charcot-Marie-Tooth Disease Type 4C	Anisocoria	ORPHA:99949
Sponastrime Dysplasia	Cataract, Microcoria, Congenital aphakia	ORPHA:93357
Osteoporosis-Pseudoglioma Syndrome	Cataract, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Monosomy 13Q14	Cataract, Iris coloboma, Microphthalmia	ORPHA:1587
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Galloway-Mowat Syndrome 1	Cataract, Opacification of the corneal stroma, Hypoplasia of the iris, Microphthalmia	OMIM:251300
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Cerulean cataract, Anterior cortical cataract, Posterio...	ORPHA:67036
Bickerstaff Brainstem Encephalitis	Mydriasis, Anisocoria	ORPHA:79138
Autoimmune Polyendocrine Syndrome, Type Ii	Keratoconjunctivitis, Band keratopathy, Cataract	OMIM:269200
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber,...	ORPHA:79098
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Acro-Renal-Ocular Syndrome	Cataract, Microcornea, Optic disc hypoplasia, Microphthalmia, Iris coloboma	ORPHA:959
Smooth Muscle Dysfunction Syndrome	Mydriasis	OMIM:613834
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Atelis Syndrome 2	Developmental cataract, Microphthalmia	OMIM:620185
Mednik Syndrome	Cataract	OMIM:609313
Superficial Siderosis	Anisocoria	ORPHA:247245
Duane-Radial Ray Syndrome	Cataract, Iris coloboma, Optic disc hypoplasia, Microphthalmia	OMIM:607323
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria	OMIM:618653
Blau Syndrome	Cataract, Nongranulomatous uveitis, Band keratopathy, Iritis, Uveitis	OMIM:186580
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Trisomy 8P	Heterochromia iridis, Astigmatism	ORPHA:264450
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Vacterl With Hydrocephalus	Microcornea, Anophthalmia, Microphthalmia	ORPHA:3412
Monosomy 18P	Microphthalmia	ORPHA:1598
Pituitary Apoplexy	Hyponatremia, Mydriasis	ORPHA:95613
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Iris coloboma	OMIM:618874
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Noonan Syndrome	Melanocytic nevus, Blue irides	ORPHA:648
Meckel Syndrome	Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Sclerocornea	ORPHA:564
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Hydrolethalus	Anophthalmia, Microphthalmia	ORPHA:2189
Incontinentia Pigmenti	Hypoplasia of the fovea, Cataract, Keratitis, Microphthalmia	OMIM:308300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Hermansky-Pudlak Syndrome 2	Fair hair, Ocular albinism, Aberrant melanosome maturation, Generalized hypopigmentation, Albinism	OMIM:608233
Linear Nevus Sebaceus Syndrome	Iris coloboma, Microphthalmia	ORPHA:2612
Focal Dermal Hypoplasia	Ectopia lentis, Hypoplasia of the iris, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:2092
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Microphthalmia	OMIM:201180
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Developmental cataract, Microphthalmia	ORPHA:464738
Osteopetrosis, Autosomal Recessive 5	Mydriasis, Hyperbilirubinemia, Hypocalcemia	OMIM:259720
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Bosma Arhinia Microphthalmia Syndrome	Cataract, Microphthalmia	OMIM:603457
Moebius Syndrome	Microphthalmia	OMIM:157900
Pelvis-Shoulder Dysplasia	Microcornea, Iris coloboma, Bilateral microphthalmos	ORPHA:2839
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Iris coloboma, Microphthalmia	ORPHA:1236
Monosomy 9Q22.3	Cataract, Microphthalmia	ORPHA:77301
Steinfeld Syndrome	Iris coloboma, Microphthalmia	OMIM:184705
Williams Syndrome	Cataract, Abnormal circulating lipid concentration, Megalocornea, Aplasia/Hypoplasia of the iris,...	ORPHA:904
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Zonular cataract, Microphthalmia	OMIM:268400
Down Syndrome	Brushfield spots	OMIM:190685
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Fair hair, Blue irides, Generalized hypopigmentation	OMIM:604292
Trisomy 18	Cataract, Microcornea, Iris coloboma, Microphthalmia	ORPHA:3380
Basal Cell Nevus Syndrome 1	Cataract, Iris coloboma, Microphthalmia	OMIM:109400
Incontinentia Pigmenti	Cataract, Keratitis, Corneal opacity, Microphthalmia	ORPHA:464
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Oculodentodigital Dysplasia	Cataract, Microcornea, Microphthalmia	OMIM:164200
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Microphthalmia	ORPHA:306542
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Microphthalmia	ORPHA:364577
Curry-Jones Syndrome	Iris coloboma, Microphthalmia	OMIM:601707
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Fair hair, Blue irides, Generalized hypopigmentation	OMIM:129900
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Hypokalemia, Hypophosphatem...	ORPHA:411629
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Fryns Syndrome	Corneal opacity, Microphthalmia	ORPHA:2059
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Mycophenolate Mofetil Embryopathy	Iris coloboma, Microphthalmia	ORPHA:268249
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity, Microphthalmia	OMIM:601812
Mosaic Trisomy 1	Opacification of the corneal stroma, Microphthalmia	ORPHA:1692
Hallermann-Streiff Syndrome	Cataract, Iris coloboma, Microphthalmia	OMIM:234100
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Proboscis Lateralis	Cataract, Microcornea, Anophthalmia, Corneal opacity, Microphthalmia, Iris coloboma, Optic nerve ...	ORPHA:141099
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia	ORPHA:2470
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Tetraamelia Syndrome 1	Cataract, Microphthalmia	OMIM:273395
Mosaic Trisomy 9	Corneal opacity, Microphthalmia	ORPHA:99776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Megalocornea, Hypoplasia of the retina, Microphthalmia, Buphthalmos, Opacification of t...	OMIM:253280
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Arachnoid Cyst	Mydriasis	ORPHA:2356
Jacobsen Syndrome	Macular hypoplasia, Microcornea, Iris coloboma, Microphthalmia	OMIM:147791
Mend Syndrome	Cataract, Microphthalmia	ORPHA:401973
Cohen Syndrome	Iris coloboma, Microphthalmia	ORPHA:193
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Dubowitz Syndrome	Microphthalmia, Hypoplasia of the iris, Iris coloboma, Megalocornea	OMIM:223370
Mosaic Variegated Aneuploidy Syndrome	Cataract, Corneal opacity, Microphthalmia	ORPHA:1052
Cockayne Syndrome Type 3	Lentiglobus, Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Corneal ulceration	ORPHA:90324
Hallermann-Streiff Syndrome	Developmental cataract, Microphthalmia	ORPHA:2108
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Cat Eye Syndrome	Iris coloboma, Microphthalmia	OMIM:115470
Autosomal Dominant Kenny-Caffey Syndrome	Developmental cataract, Bilateral microphthalmos	ORPHA:93325
Mowat-Wilson Syndrome	Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Iris coloboma	OMIM:235730
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Cocaine Intoxication	Mydriasis, Elevated circulating creatine kinase concentration	ORPHA:90068
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Scorpion Envenomation	Hypokalemia, Mydriasis, Increased circulating NT-proBNP concentration, Increased circulating crea...	ORPHA:466677
Alternating Hemiplegia Of Childhood	Mydriasis	ORPHA:2131
Joubert Syndrome 14	Microphthalmia	OMIM:614424
2Q31.1 Microdeletion Syndrome	Iris coloboma, Microphthalmia	ORPHA:251014
Cockayne Syndrome B	Microcornea, Hypoplasia of the iris, Developmental cataract, Microphthalmia, Opacification of the...	OMIM:133540
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia...	ORPHA:91500
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Treacher-Collins Syndrome	Cataract, Iris coloboma, Microphthalmia	ORPHA:861
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cataract, Microphthalmia	OMIM:620005
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cataract, Anophthalmia, Microphthalmia	ORPHA:2526
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Aicardi Syndrome	Cataract, Microphthalmia	OMIM:304050
Trichothiodystrophy	Microcornea, Bilateral microphthalmos, Astigmatism, Keratoconjunctivitis sicca, Developmental cat...	ORPHA:33364
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Wolf-Hirschhorn Syndrome	Rieger anomaly, Iris coloboma, Ectopia pupillae	OMIM:194190
Roberts Syndrome	Cataract, Microphthalmia	ORPHA:3103
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Iris coloboma, Microphthalmia	ORPHA:3186
Bartsocas-Papas Syndrome 1	Axillary pterygium, Popliteal pterygium, Pterygium, Microphthalmia, Opacification of the corneal ...	OMIM:263650
Cockayne Syndrome	Lentiglobus, Cataract, Band keratopathy, Abnormal cornea morphology, Keratoconjunctivitis sicca, ...	ORPHA:191
Proteus Syndrome	Cataract, Irregular hyperpigmentation, Central heterochromia, Chorioretinal coloboma, Melanocytic...	ORPHA:744
Witteveen-Kolk Syndrome	Cataract, Anisocoria, Iris coloboma	OMIM:613406
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cataract, Microcornea, Ectopia pupillae, Abnormal pupil morphology, Axenfeld anomaly, Astigmatism...	ORPHA:261552
Microphthalmia, Syndromic 2	Microcornea, Anophthalmia, Phthisis bulbi, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:300166
Lowe Oculocerebrorenal Syndrome	Dense posterior cortical cataract, Corneal scarring, Developmental cataract, Microphthalmia	OMIM:309000
Craniotubular Dysplasia, Ikegawa Type	Mydriasis	OMIM:619727
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Peters anomaly, Microphthalmia	OMIM:616975
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia, Posterior embryotoxon, Corneal opacity, Sclerocornea	ORPHA:2556
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity, Microphthalmia	OMIM:608670
Myhre Syndrome	Cataract, Microphthalmia	OMIM:139210
Holoprosencephaly	Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:2162
Williams-Beuren Syndrome	Hypercalcemia, Blue irides, Premature graying of hair	OMIM:194050
Fanconi Anemia	Cataract, Aplasia/Hypoplasia of the iris, Astigmatism, Microphthalmia	ORPHA:84
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia	OMIM:616734
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Iris coloboma, Microphthalmia	ORPHA:508498
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Chromosome 13Q14 Deletion Syndrome	Iris coloboma, Microphthalmia	OMIM:613884
Holoprosencephaly 7	Iris coloboma, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Renpenning Syndrome 1	Cataract, Microphthalmia	OMIM:309500
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Vascular Ehlers-Danlos Syndrome	Keratoconus, Melanocytic nevus, Abnormal pupil morphology, Hypokalemia, Abnormality of skin pigme...	ORPHA:286
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
22Q11.2 Deletion Syndrome	Cataract, Posterior embryotoxon, Corneal neovascularization, Microphthalmia	ORPHA:567
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Fryns Syndrome	Opacification of the corneal stroma, Microphthalmia	OMIM:229850
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Nuclear pulverulent cataract, Microphthalmia	OMIM:612474
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Yunis-Varon Syndrome	Sclerocornea, Cataract, Bilateral microphthalmos, Microphthalmia	ORPHA:3472
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
1P36 Deletion Syndrome	Cataract, Ocular albinism	ORPHA:1606
Neu-Laxova Syndrome 1	Pterygium, Cataract, Microphthalmia	OMIM:256520
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Antecubital pterygium, Popliteal pterygium, Microphthalmia	OMIM:609945
Focal Dermal Hypoplasia	Ectopia lentis, Aniridia, Anophthalmia, Microphthalmia, Iris coloboma	OMIM:305600
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Iris coloboma, Microphthalmia	OMIM:620186
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Meckel Syndrome, Type 1	Iris coloboma, Microphthalmia	OMIM:249000
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Microphthalmia	ORPHA:2538
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Microphthalmia, Syndromic 6	Sclerocornea, Microcornea, Anophthalmia, Microphthalmia	OMIM:607932
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Charge Syndrome	Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:138
Plague	Conjunctival hyperemia, Mydriasis	ORPHA:707
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Townes-Brocks Syndrome	Cataract, Limbal dermoid, Iris coloboma, Microphthalmia	ORPHA:857
Branchiooculofacial Syndrome	Cataract, Iris coloboma, Anophthalmia, Microphthalmia	OMIM:113620
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Aicardi Syndrome	Microphthalmia	ORPHA:50
Charge Syndrome	Cataract, Unilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma	OMIM:214800
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Holoprosencephaly 2	Iris coloboma, Microphthalmia	OMIM:157170
Monosomy 9P	Microphthalmia	ORPHA:261112
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos, Corneal opacity	OMIM:219000
Roberts-Sc Phocomelia Syndrome	Cataract, Opacification of the corneal stroma, Corneal opacity, Microphthalmia	OMIM:268300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Holoprosencephaly 9	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610829
Degcags Syndrome	Microphthalmia	OMIM:619488
Fontaine Progeroid Syndrome	Microphthalmia	OMIM:612289
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Microphthalmia, Syndromic 1	Microcornea, Ciliary body coloboma, Anophthalmia, Microphthalmia, Iris coloboma	OMIM:309800
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Astigmatism, Axenfeld anomaly, Microphthalmia, Iris coloboma	ORPHA:261537
Mowat-Wilson Syndrome	Cataract, Astigmatism, Axenfeld anomaly, Microphthalmia, Iris coloboma	ORPHA:2152
Fraser Syndrome	Anophthalmia, Microphthalmia	ORPHA:2052
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:508488
Craniofacial Microsomia 1	Limbal dermoid, Anophthalmia, Microphthalmia	OMIM:164210

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.

There is no histopathology data for Hsf4

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Hsf4.

No publications found that use IMPC mice or data for Hsf4.

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MGI Allele	Allele Type	Produced
Hsf4^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Hsf4^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Hsf4^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Hsf4 MGI:1347058

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Eye Morphology

Adult LacZ

Sleep Wake

X-ray

Combined SHIRPA and Dysmorphology

X-ray

Electroretinography

Auditory Brain Stem Response

Electroretinography

Human diseases caused by Hsf4 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data