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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 iris pigmentation	Hsf4^{tm1b(KOMP)Wtsi}	HOM	Early adult	5.12×10^-20
abnormal cornea morphology	Hsf4^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.71×10^-05
abnormal lens morphology	Hsf4^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.78×10^-15
increased circulating alanine transaminase level	Hsf4^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.23×10^-05
cataract	Hsf4^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.07×10^-17
irregularly shaped pupil	Hsf4^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.88×10^-06

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
Brain	Section images	heterozygote	100% (2 of 2)
Brainstem	Section images	heterozygote	100% (2 of 2)
Cerebellum	Section images	heterozygote	100% (2 of 2)
Hypothalamus	Section images	heterozygote	100% (2 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Submandibular gland	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	0.0% (0 of 2)
Thalamus	Section images	heterozygote	100% (2 of 2)
Trachea	Section images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 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)
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)
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)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 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.

Eye Morphology

Images Slit Lamp

40 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Section

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Sleep Wake

Wake state (bmp file)

16 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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Auditory Brain Stem Response

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

8 Images

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Electroretinography

Rod waveform (pdf format)

4 Images

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Electroretinography

Cone 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 (966 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		Pulverulent cataract, Nuclear 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
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
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	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy	Punctate corneal dystrophy	OMIM:183850
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	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Nathalie Syndrome	Cataract	ORPHA:2663
Galactosemia Iv	Cataract	OMIM:618881
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge...	ORPHA:83461
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Cataract-Ataxia-Deafness-Retardation Syndrome	Developmental cataract	OMIM:212710
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
X-Linked Retinoschisis	Cataract	ORPHA:792
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Galactosemia Ii	Cataract	OMIM:230200
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Microcornea, Glaucoma, And Absent Frontal Sinuses	Microcornea	OMIM:156700
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	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o...	OMIM:619947
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Microphthalmia, Anophthalmia, Iris coloboma	OMIM:616428
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p...	ORPHA:1067
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Cataract 47	Microcornea, Cataract	OMIM:612018
Nathalie Syndrome	Cataract	OMIM:255990
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Aniridia, Microcornea, Cataract	OMIM:106230
Corneal Dystrophy, Lattice Type I	Lattice corneal dystrophy, Recurrent corneal erosions	OMIM:122200
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigm...	OMIM:619165
Congenital Varicella Syndrome	Microphthalmia, Cataract	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
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma	OMIM:120433
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Adult-Onset Foveomacular Vitelliform Dystrophy	Choroideremia, Iris hypopigmentation	ORPHA:99000
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation	ORPHA:370097
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Hypomyelination-Congenital Cataract Syndrome	Developmental cataract	ORPHA:85163
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Methionine Malabsorption Syndrome	White hair, Blue irides, Positive ferric chloride test	OMIM:250900
Weill-Marchesani Syndrome 3	Shallow anterior chamber, Microspherophakia, Ectopia lentis	OMIM:614819
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Cataract-Deafness-Hypogonadism Syndrome	Developmental cataract	ORPHA:1383
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	ORPHA:101082
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea	OMIM:251750
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Cataract-Hypertrichosis-Intellectual Disability Syndrome	Developmental cataract	ORPHA:1375
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Griscelli Syndrome Type 1	Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation	ORPHA:79476
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Pellagra-Like Syndrome	Cataract	OMIM:260650
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis	OMIM:110150
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Corneal Dystrophy, Lattice Type Iiia	Corneal erosion, Lattice corneal dystrophy	OMIM:608471
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Peroxisome Biogenesis Disorder 10A (Zellweger)	Cataract	OMIM:614882
Hyperferritinemia With Or Without Cataract	Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract	OMIM:600886
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation	ORPHA:67048
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly	OMIM:610023
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Phenylketonuria	Maternal hyperphenylalaninemia, Cataract, Blue irides, Hyperphenylalaninemia, Generalized hypopig...	OMIM:261600
Aniridia 3	Aniridia, Cataract	OMIM:617142
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Elevated circulating creatine kinase concentration	OMIM:609115
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Freckl...	ORPHA:54
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p...	OMIM:193510
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Cataract 48	Cataract	OMIM:618415
Woolly Hair	Abnormal pupil morphology, Cataract, Hypopigmentation of hair	ORPHA:170
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho...	OMIM:601706
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	OMIM:160565
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	ORPHA:231169
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h...	OMIM:612109
Corneal Dystrophy, Fleck	Speckled corneal dystrophy	OMIM:121850
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Facial Spasm	Anisocoria	OMIM:134300
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Oculocutaneous Albinism Type 1	White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Abnormal morphology o...	ORPHA:352731
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma	ORPHA:231736
Spondylo-Ocular Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Morquio Syndrome C	Corneal opacity	OMIM:252300
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Woolly Hair Nevus	Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract	ORPHA:85288
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Piebald Trait-Neurologic Defects Syndrome	Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Hypopigmented skin p...	ORPHA:2885
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma	OMIM:300915
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract	OMIM:601794
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Cardiomyopathy, Dilated, 1Ii	Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:363741
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Gombo Syndrome	Microphthalmia	OMIM:233270
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Insulinomatosis And Diabetes Mellitus	Developmental glaucoma, Developmental cataract	OMIM:147630
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia	OMIM:275400
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Corneal Dystrophy, Gelatinous Drop-Like	Corneal dystrophy	OMIM:204870
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract	ORPHA:2489
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Cataract 24	Anterior polar cataract	OMIM:601202
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea	OMIM:617272
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Abnormality iris morphology	ORPHA:1617
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract	OMIM:619649
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Coats Disease	Leukocoria	OMIM:300216
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:212550
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Wagner Vitreoretinopathy	Cataract	OMIM:143200
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcornea, Microphthalmia, Cataract	OMIM:616171
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Edict Syndrome	Keratoconus, Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract	OMIM:614303
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Oculocutaneous Albinism Type 2	Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of retinal pigmentation, Whit...	ORPHA:79432
Developmental And Epileptic Encephalopathy 35	Cataract	OMIM:616647
Stickler Syndrome, Type V	Cataract	OMIM:614284
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Morm Syndrome	Cataract	ORPHA:75858
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary ret...	OMIM:613835
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract	OMIM:251270
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Supernumerary Nostril	Microcornea, Developmental cataract	ORPHA:141096
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Developmental cataract	OMIM:600559
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract, Elevated circulating creatine kinase concentration	OMIM:615352
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2791
Waardenburg Syndrome, Type 3	Partial albinism, Blue irides, Hypopigmented skin patches, Premature graying of hair, White forel...	OMIM:148820
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop...	ORPHA:79477
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Iris transillumination defect, Cataract, Generalized hypopigmentation	OMIM:617306
Achromatopsia 3	Cataract	OMIM:262300
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla...	OMIM:611584
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cataract	OMIM:613730
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Retinitis Pigmentosa 4	Cataract	OMIM:613731
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma	ORPHA:1791
Nanophthalmos	Microphthalmia	ORPHA:35612
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Cofs Syndrome	Microphthalmia, Cataract	ORPHA:1466
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Hermansky-Pudlak Syndrome 11	Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair	OMIM:619172
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Alexander Disease	Microcoria	OMIM:203450
Nance-Horan Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Cataract	OMIM:608227
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Nanophthalmos 4	Microphthalmia	OMIM:615972
Usher Syndrome Type 2	Cataract, Iris hypopigmentation	ORPHA:231178
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cataract	OMIM:616154
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Lissencephaly 8	Microphthalmia, Cataract	OMIM:617255
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Cone-Rod Dystrophy 16	Cataract	OMIM:614500
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Leber Congenital Amaurosis 2	Keratoconus, Cataract	OMIM:204100
1Q21.1 Microduplication Syndrome	Cataract	ORPHA:250994
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Developmental cataract	OMIM:610756
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation	ORPHA:2720
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract	OMIM:618805
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:48431
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract, Elevated circulating creatine kinase concentration	OMIM:617404
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma	ORPHA:139471
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Microphthalmia, Syndromic 5	Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Microphthalmia	OMIM:610125
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract	ORPHA:329314
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Posterior subcapsular cataract	OMIM:615458
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Cataract	ORPHA:3433
Stiff Skin Syndrome	Cataract	OMIM:184900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract	OMIM:613155
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Hermansky-Pudlak Syndrome 8	Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albinism, Iris transilluminat...	OMIM:614077
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Astigmatism, Cataract	OMIM:619694
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract	OMIM:616108
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cataract	ORPHA:85172
Riboflavin Transporter Deficiency	Iris hypopigmentation	ORPHA:97229
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Hyp...	ORPHA:414
Free Sialic Acid Storage Disease	Abnormality of skin pigmentation, Iris hypopigmentation	ORPHA:834
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract	ORPHA:1345
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
Cat-Eye Syndrome	Microphthalmia, Iris coloboma	ORPHA:195
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Piebaldism, Hypopigmented skin patches,...	ORPHA:2884
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Oculopalatocerebral Syndrome	Leukocoria	OMIM:257910
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy	OMIM:604278
Mevalonic Aciduria	Cataract	ORPHA:29
Myopathy, Distal, 7, Adult-Onset, X-Linked	Cataract	OMIM:301075
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Ocular albinism, Albinism	OMIM:614074
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Hyperthreoninemia	OMIM:204000
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Griscelli Syndrome	Silver-gray hair, White hair, Hypopigmented skin patches, Premature graying of hair, Abnormal cir...	ORPHA:381
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Edinburgh Malformation Syndrome	Brushfield spots	ORPHA:1895
Proteus-Like Syndrome	Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentation, Heterochromia i...	ORPHA:2969
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:615145
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Increased cir...	OMIM:614307
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract	OMIM:132450
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Juvenile Xanthogranuloma	Multiple cafe-au-lait spots, Uveitis, Iritis, Asymmetry of iris pigmentation	ORPHA:158000
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Iris coloboma, Ectopia lentis	ORPHA:1259
Oculocutaneous Albinism Type 5	Ocular albinism	ORPHA:370091
Senior-Loken Syndrome	Cataract	ORPHA:3156
Warburg Micro Syndrome 1	Microcornea, Microphthalmia, Developmental cataract	OMIM:600118
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Vitreoretinochoroidopathy	Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract	OMIM:193220
Flynn-Aird Syndrome	Cataract	OMIM:136300
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity	ORPHA:290
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly	OMIM:120200
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Kniest Dysplasia	Cataract, Aplasia/Hypoplasia of the lens, Lens luxation	ORPHA:485
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Crome Syndrome	Developmental cataract	OMIM:218900
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Leukodystrophy, Hypomyelinating, 24	Cataract	OMIM:619851
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Pigmentary retinopathy, Opacification of the corneal stroma, Elevated...	OMIM:214110
Monilethrix	Cataract	ORPHA:573
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Posterior subcapsular cataract	OMIM:300619
Combined Oxidative Phosphorylation Deficiency 13	Cataract	OMIM:614932
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cataract	ORPHA:893
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Cataract, Elevated circulating creatine kinase concentration	OMIM:615350
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Deafness-Hypogonadism Syndrome	Heterochromia iridis	ORPHA:90646
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Infantile Spasms-Broad Thumbs Syndrome	Cataract	ORPHA:3173
Tonne-Kalscheuer Syndrome	Blue irides	OMIM:300978
Peroxisome Biogenesis Disorder 14B	Developmental cataract	OMIM:614920
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Retinitis Pigmentosa 2	Cataract	OMIM:312600
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Cataract 49	Posterior cortical cataract	OMIM:619593
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Cataract, Corneal opacity	OMIM:613153
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia	OMIM:152950
Familial Dysautonomia	Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis	ORPHA:1764
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract	OMIM:302950
Zellweger Syndrome	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Posterior embryot...	ORPHA:912
Joubert Syndrome 9	Cataract, Astigmatism	OMIM:612285
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Elevated transferrin saturation, Cataract, Hyperpig...	OMIM:606069
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
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopig...	ORPHA:2719
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Hypopigmented skin patches,...	ORPHA:894
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Mmep Syndrome	Microphthalmia	ORPHA:3434
Microcephalic Primordial Dwarfism, Toriello Type	Cataract	ORPHA:2643
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Cafe-au-lait spot, Blue irides	ORPHA:3041
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Lissencephaly 5	Cataract	OMIM:615191
Hypomelanosis Of Ito	Cataract, Iris coloboma	OMIM:300337
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Temtamy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1777
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Cataract, Elevated circulating creatine kinase concentration	OMIM:615704
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal circulating phytanic acid concentration, Mydriasis	ORPHA:247815
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Developmental cataract	ORPHA:436174
Baralle-Macken Syndrome	Cataract	OMIM:619255
Acrofrontofacionasal Dysostosis	Brushfield spots, Hypopigmented skin patches	ORPHA:1784
Linear Verrucous Nevus Syndrome	Abnormal cornea morphology, Cataract, Iris coloboma, Hypophosphatemia	ORPHA:2611
Pelvis-Shoulder Dysplasia	Microphthalmia, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Wyburn-Mason Syndrome	Iris hypopigmentation	ORPHA:53719
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m...	OMIM:613150
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f...	OMIM:193500
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Intestinal Botulism	Mydriasis	ORPHA:178481
Neurotrophic Keratopathy	Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion...	ORPHA:137596
Nevus Comedonicus Syndrome	Cataract	ORPHA:64754
Temtamy Syndrome	Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation	OMIM:218340
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Laurence-Moon Syndrome	Cataract, Iris coloboma	ORPHA:2377
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Microcephaly 10, Primary, Autosomal Recessive	Cataract	OMIM:615095
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma...	ORPHA:79430
Frontonasal Dysplasia 1	Microphthalmia, Cataract	OMIM:136760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Cataract, Abnormally large globe	OMIM:615249
Familial Isolated Hypoparathyroidism	Cataract	ORPHA:2238
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Subcapsular cataract, Cataract	OMIM:612674
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Cataract, Choroidal neovascularization, Abnormal choroid morph...	ORPHA:179
Stickler Syndrome, Type Ii	Cataract	OMIM:604841
Pseudopseudohypoparathyroidism	Cataract	OMIM:612463
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ...	ORPHA:233
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Peters anomaly	OMIM:618652
Sturge-Weber Syndrome	Conjunctival telangiectasia, Corneal dystrophy, Abnormal choroid morphology, Heterochromia iridis...	ORPHA:3205
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Cataract	OMIM:612379
Pierpont Syndrome	Microcornea, Microphthalmia	OMIM:602342
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Stickler Syndrome Type 1	Cataract	ORPHA:90653
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Cataract, Elevated circulating creatine kinase concentration	OMIM:615351
Peroxisome Biogenesis Disorder 9B	Cataract	OMIM:614879
Vogt-Koyanagi-Harada Disease	Cataract, Poliosis, Hypopigmented skin patches, Premature graying of hair, Vitiligo	ORPHA:3437
Weill-Marchesani Syndrome 1	Shallow anterior chamber, Microspherophakia, Ectopia lentis, Cataract	OMIM:277600
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia	ORPHA:2399
Noonan Syndrome 13	Cafe-au-lait spot, Blue irides, Multiple lentigines	OMIM:619087
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid...	ORPHA:42775
Angelman Syndrome	Hypopigmentation of the skin, Fair hair, Blue irides	OMIM:105830
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Keratitis, Cataract, Conjunctivitis	OMIM:612843
Hermansky-Pudlak Syndrome 4	Ocular albinism, Albinism	OMIM:614073
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Fish-Eye Disease	Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Achondrogenesis Type 2	Cataract, Lens subluxation	ORPHA:93296
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract	OMIM:619780
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Iatrogenic Botulism	Mydriasis	ORPHA:254509
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract	OMIM:616538
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Corneal opacity, Ectopia pupillae, Lens subluxation, Hypotri...	ORPHA:85167
Adams-Oliver Syndrome 2	Microphthalmia, Developmental cataract	OMIM:614219
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Cataract	OMIM:162400
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Waardenburg Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature...	ORPHA:3440
Tyrosinemia, Type Ii	Hypertyrosinemia, Herpetiform corneal ulceration	OMIM:276600
Wound Botulism	Mydriasis	ORPHA:178475
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea	ORPHA:77298
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Cataract	OMIM:614105
Warburg Micro Syndrome 2	Microcornea, Microphthalmia, Cataract, Developmental cataract	OMIM:614225
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris...	OMIM:609049
Warburg Micro Syndrome 3	Cataract, Developmental cataract, Microcornea, Shallow anterior chamber, Microphthalmia	OMIM:614222
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Rhizomelic Chondrodysplasia Punctata	Cataract	ORPHA:177
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Cataract, Developmental cataract	OMIM:616395
Congenital Fibrinogen Deficiency	Microphthalmia, Developmental cataract	ORPHA:335
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Revesz Syndrome	Megalocornea, Fine, reticulate skin pigmentation, Leukocoria	OMIM:268130
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Anterior chamber synechiae, Band keratopathy	ORPHA:85410
Hermansky-Pudlak Syndrome 7	Ocular albinism, Albinism	OMIM:614076
Histiocytoid Cardiomyopathy	Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia	ORPHA:137675
Miller Fisher Syndrome	Anisocoria, Mydriasis	ORPHA:98919
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Dystonia-Deafness Syndrome 1	Cataract	OMIM:607371
Nephronophthisis 11	Anisocoria	OMIM:613550
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy...	OMIM:214500
Angelman Syndrome	Keratoconus, Astigmatism, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:72
Inhalational Botulism	Mydriasis	ORPHA:254504
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Cortical cataract	OMIM:616468
Familial Exudative Vitreoretinopathy	Microphthalmia, Cataract	ORPHA:891
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair	OMIM:229200
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea	ORPHA:370959
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Brushfield spots, Pigmentary retinopathy, Opacification of the corneal stroma, Elevated...	OMIM:214100
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria	ORPHA:2714
Noonan Syndrome 4	Blue irides	OMIM:610733
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma	ORPHA:3301
Muscle-Eye-Brain Disease	Cataract, Elevated circulating creatine kinase concentration	ORPHA:588
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Cataract, Persistent pupillary membrane	OMIM:257850
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Trisomy 13	Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma	ORPHA:3378
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Warburg Micro Syndrome 4	Microcornea, Microphthalmia, Developmental cataract	OMIM:615663
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris...	OMIM:243605
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2712
Galactokinase Deficiency	Cataract, Increased level of galactitol in plasma, Nuclear cataract, Hypergalactosemia, Hyperchol...	ORPHA:79237
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Bresek Syndrome	Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:85284
Galactosemia I	Cataract, Increased level of galactitol in plasma, Hypergalactosemia, Increased level of galacton...	OMIM:230400
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cataract	OMIM:214150
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe...	OMIM:608328
Bardet-Biedl Syndrome 9	Astigmatism, Cataract	OMIM:615986
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Hyperpigmentation of the skin	OMIM:231550
Congenital Fibrosis Of Extraocular Muscles	Anisocoria, Abnormal pupil shape, Cataract	ORPHA:45358
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Hyperalaninemia, Cataract, Elevated circulating creatine kinase concentration	OMIM:615418
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Brushfield spots, Conjugated hyperbilirubinemia, Elevated circulating phytanic acid con...	OMIM:614866
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cataract	ORPHA:369847
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract, Elevated circulating creatine kinase concentration	ORPHA:370997
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:163649
Infant Botulism	Hyponatremia, Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Classic Phenylketonuria	Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia	ORPHA:79254
Knobloch Syndrome 1	Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L...	OMIM:267750
Lymphedema-Hypoparathyroidism Syndrome	Cataract	OMIM:247410
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	ORPHA:1553
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Refsum Disease	Microphthalmia, Cataract	ORPHA:773
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract	ORPHA:79107
Full Schwannomatosis	Cataract	ORPHA:93921
Nail-Patella Syndrome	Antecubital pterygium, Abnormal iris pigmentation, Primary congenital glaucoma, Lester's sign	ORPHA:2614
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology	ORPHA:90658
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract	OMIM:610651
Botulism	Mydriasis	ORPHA:1267
Harlequin Ichthyosis	Cataract	ORPHA:457
Koolen-De Vries Syndrome	Fair hair, Cataract, Iris hypopigmentation	OMIM:610443
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Astigmatism, Iris coloboma, Peters anomaly	ORPHA:494344
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Walker-Warburg Syndrome	Anophthalmia, Corneal opacity, Cataract, Microcornea, Microphthalmia, Iris coloboma	ORPHA:899
Cadds	Cataract	ORPHA:369942
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria, Developmental cat...	OMIM:175780
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Cataract	OMIM:618571
Chédiak-Higashi Syndrome	Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid...	ORPHA:167
Spastic Paraplegia 9B, Autosomal Recessive	Cataract	OMIM:616586
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Posterior synechiae of the anterior chamber	ORPHA:280921
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Foodborne Botulism	Mydriasis	ORPHA:228371
Chromosome Xp11.3 Deletion Syndrome	Posterior subcapsular cataract, Cataract	OMIM:300578
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Blue irides, Melanocytic nevus	OMIM:101800
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Albinism	OMIM:614075
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia	OMIM:167730
Frontorhiny	Microphthalmia, Cataract, Iris coloboma	ORPHA:391474
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy, Cataract, Elevated circulating creatine kinase concentration	ORPHA:79095
Phace Association	Microphthalmia, Optic nerve hypoplasia, Developmental cataract	OMIM:606519
Kapur-Toriello Syndrome	Microphthalmia, Cataract, Iris coloboma	OMIM:244300
Intermediate Uveitis	Anterior uveitis, Posterior synechiae of the anterior chamber, Cataract, Band keratopathy	ORPHA:279914
Baraitser-Winter Cerebrofrontofacial Syndrome	Microcornea, Heterochromia iridis, Iris coloboma	ORPHA:2995
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Limbal dermoid, Sclerocornea	OMIM:613001
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	ORPHA:2250
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Dahlberg-Borer-Newcomer Syndrome	Cataract	ORPHA:1563
Kapur-Toriello Syndrome	Microphthalmia, Iris coloboma	ORPHA:2328
Ruijs-Aalfs Syndrome	Posterior subcapsular cataract, Cataract	OMIM:616200
Micro Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:2510
Retinoblastoma	Abnormality of retinal pigmentation, Leukocoria, Uveitis, Hypopyon, Heterochromia iridis	ORPHA:790
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Microphthalmia, Lenz Type	Microcornea, Microphthalmia, Cataract, Iris coloboma	ORPHA:568
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract	ORPHA:35173
Autoimmune Hypoparathyroidism	Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz...	ORPHA:36913
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract	OMIM:268315
Alpha-Mannosidosis, Adult Form	Cataract, Corneal opacity	ORPHA:309288
Prader-Willi Syndrome	Generalized hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopi...	OMIM:176270
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia	ORPHA:2505
Chondrodysplasia Punctata, Autosomal Dominant	Cataract	OMIM:118650
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Cataract	OMIM:616449
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Trichinellosis	Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology	ORPHA:863
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98754
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly	OMIM:614643
Baraitser-Winter Syndrome 1	Microphthalmia, Iris coloboma	OMIM:243310
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98793
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, Hy...	ORPHA:636
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177904
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria	OMIM:615510
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177901
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Optic nerve hypoplasia	OMIM:609053
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cataract, Sclerocornea	OMIM:614230
Neuroocular Syndrome	Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Peters anomaly, Stellate iri...	OMIM:619539
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil m...	ORPHA:534
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology	ORPHA:98977
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Developmental cataract	OMIM:127000
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Trichothiodystrophy 1, Photosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract	OMIM:601675
Retinoblastoma	Leukocoria	OMIM:180200
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat...	ORPHA:163746
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Conjunctivitis, Corneal scarring	OMIM:226600
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Cataract, Elevated circulating creatine kinase concentration	ORPHA:363623
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Congenital Tufting Enteropathy	Corneal erosion, Cataract, Punctate keratitis	ORPHA:92050
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microphthalmia	OMIM:206900
3Q29 Microdeletion Syndrome	Microphthalmia, Cataract	ORPHA:65286
Leiomyomatosis, Diffuse, With Alport Syndrome	Cataract, Lenticonus, Anterior lenticonus	OMIM:308940
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Sclerocornea	OMIM:300952
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Martsolf Syndrome 1	Microphthalmia, Cataract, Developmental cataract	OMIM:212720
Marfan Syndrome	Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the globe, Hypoplasia of t...	OMIM:154700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Peters anomaly, Microphthalmia, M...	OMIM:236670
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Peters anomaly, Microphthalmia, Iris coloboma	OMIM:309801
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Heterochromia iridis	OMIM:609136
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Adams-Oliver Syndrome	Microphthalmia, Cataract	ORPHA:974
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos	ORPHA:369891
Hermansky-Pudlak Syndrome 10	Ocular albinism, Albinism	OMIM:617050
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Lymphedema-Distichiasis Syndrome	Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions	OMIM:153400
Papillorenal Syndrome	Microphthalmia, Cataract, Lens luxation	OMIM:120330
Scalp-Ear-Nipple Syndrome	Anisocoria, Cataract, Iris coloboma, Developmental cataract	OMIM:181270
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Cataract	OMIM:302960
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Cataract	OMIM:253800
Vici Syndrome	Hypopigmentation of hair, Cataract, Elevated circulating creatine kinase concentration, Albinism,...	OMIM:242840
Cutis Marmorata Telangiectatica Congenita	Multiple cafe-au-lait spots, Leukocoria	ORPHA:1556
Lymphedema-Distichiasis Syndrome	Corneal erosion, Cataract, Conjunctivitis	ORPHA:33001
Serotonin Syndrome	Mydriasis	ORPHA:43116
1Q21.1 Microdeletion Syndrome	Microphthalmia, Cataract, Iris coloboma	ORPHA:250989
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae	OMIM:618223
Charcot-Marie-Tooth Disease Type 4C	Anisocoria	ORPHA:99949
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Monosomy 13Q14	Microphthalmia, Cataract, Iris coloboma	ORPHA:1587
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma	OMIM:251300
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Bickerstaff Brainstem Encephalitis	Anisocoria, Mydriasis	ORPHA:79138
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Multisystemic Smooth Muscle Dysfunction Syndrome	Mydriasis	OMIM:613834
Sympathetic Ophthalmia	Cataract, Poliosis, Anterior chamber cells, Posterior synechiae of the anterior chamber, Posterio...	ORPHA:79098
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Microcornea, Microphthalmia, Iris coloboma	ORPHA:959
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Pituitary Apoplexy	Hyponatremia, Mydriasis	ORPHA:95613
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Unilateral microphthalmos	OMIM:618874
Duane-Radial Ray Syndrome	Microphthalmia, Cataract, Optic disc hypoplasia, Iris coloboma	OMIM:607323
Atelis Syndrome 2	Microphthalmia, Developmental cataract	OMIM:620185
Superficial Siderosis	Anisocoria	ORPHA:247245
Mednik Syndrome	Cataract	OMIM:609313
Trisomy 8P	Astigmatism, Heterochromia iridis	ORPHA:264450
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria	OMIM:618653
Blau Syndrome	Nongranulomatous uveitis, Cataract, Band keratopathy, Uveitis, Iritis	OMIM:186580
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Anophthalmia	ORPHA:3412
Monosomy 18P	Microphthalmia	ORPHA:1598
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Keratitis, Cataract	OMIM:308300
Meckel Syndrome	Anophthalmia, Cataract, Sclerocornea, Aplasia/Hypoplasia of the iris, Microcornea, Microphthalmia	ORPHA:564
Steinfeld Syndrome	Microphthalmia, Iris coloboma	OMIM:184705
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia, Mydriasis	OMIM:259720
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair	OMIM:608233
Focal Dermal Hypoplasia	Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Microphthalmia, Iris coloboma	ORPHA:2092
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Developmental cataract	ORPHA:464738
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Moebius Syndrome	Microphthalmia	OMIM:157900
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1236
Pelvis-Shoulder Dysplasia	Microcornea, Bilateral microphthalmos, Iris coloboma	ORPHA:2839
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cataract	OMIM:603457
Monosomy 9Q22.3	Microphthalmia, Cataract	ORPHA:77301
Down Syndrome	Brushfield spots	OMIM:190685
Rothmund-Thomson Syndrome, Type 2	Microcornea, Microphthalmia, Cataract, Zonular cataract	OMIM:268400
Trisomy 18	Microcornea, Microphthalmia, Cataract, Iris coloboma	ORPHA:3380
Williams Syndrome	Abnormal circulating lipid concentration, Flat cornea, Corneal opacity, Cataract, Hypercalcemia, ...	ORPHA:904
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Abnormal cornea morph...	ORPHA:411629
Tetraamelia Syndrome 1	Microphthalmia, Cataract	OMIM:273395
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Generalized hypopigmentation, Fair hair, Blue irides	OMIM:604292
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cataract	ORPHA:306542
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Iris coloboma	OMIM:109400
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Incontinentia Pigmenti	Keratitis, Microphthalmia, Cataract, Corneal opacity	ORPHA:464
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Oculodentodigital Dysplasia	Microcornea, Microphthalmia, Cataract	OMIM:164200
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Generalized hypopigmentation, Fair hair, Blue irides	OMIM:129900
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma	ORPHA:268249
Fryns Syndrome	Microphthalmia, Corneal opacity	ORPHA:2059
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Mosaic Trisomy 1	Microphthalmia, Opacification of the corneal stroma	ORPHA:1692
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal...	OMIM:253280
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Microcornea, Microphthalmia, Iri...	ORPHA:141099
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Mosaic Trisomy 9	Microphthalmia, Corneal opacity	ORPHA:99776
Hallermann-Streiff Syndrome	Microphthalmia, Cataract, Iris coloboma	OMIM:234100
Arachnoid Cyst	Mydriasis	ORPHA:2356
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Jacobsen Syndrome	Microcornea, Microphthalmia, Macular hypoplasia, Iris coloboma	OMIM:147791
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Cohen Syndrome	Microphthalmia, Iris coloboma	ORPHA:193
Mend Syndrome	Microphthalmia, Cataract	ORPHA:401973
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma	OMIM:223370
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma	OMIM:235730
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Cataract, Corneal opacity	ORPHA:1052
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Cat Eye Syndrome	Microphthalmia, Iris coloboma	OMIM:115470
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Cockayne Syndrome Type 3	Cataract, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Microphthalmia, Corneal ulceration	ORPHA:90324
Hallermann-Streiff Syndrome	Microphthalmia, Developmental cataract	ORPHA:2108
Cocaine Intoxication	Elevated circulating creatine kinase concentration, Mydriasis	ORPHA:90068
Tubulointerstitial Nephritis And Uveitis Syndrome	Abnormality of retinal pigmentation, Nongranulomatous uveitis, Cataract, Choroidal neovasculariza...	ORPHA:91500
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno...	ORPHA:411634
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Scorpion Envenomation	Hypokalemia, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase...	ORPHA:466677
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Treacher-Collins Syndrome	Microphthalmia, Cataract, Iris coloboma	ORPHA:861
Alternating Hemiplegia Of Childhood	Mydriasis	ORPHA:2131
2Q31.1 Microdeletion Syndrome	Microphthalmia, Iris coloboma	ORPHA:251014
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Cataract, Generalized hyperpigmentati...	ORPHA:744
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Cockayne Syndrome B	Developmental cataract, Hypoplasia of the iris, Microcornea, Opacification of the corneal stroma,...	OMIM:133540
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Cataract	ORPHA:2526
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Cataract	OMIM:620005
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Aicardi Syndrome	Microphthalmia, Cataract	OMIM:304050
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Iris coloboma, Rieger anomaly	OMIM:194190
Trichothiodystrophy	Bilateral microphthalmos, Developmental cataract, Microcornea, Keratoconjunctivitis sicca, Astigm...	ORPHA:33364
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Roberts Syndrome	Microphthalmia, Cataract	ORPHA:3103
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Iris coloboma	ORPHA:3186
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce...	OMIM:263650
Cockayne Syndrome	Cataract, Band keratopathy, Developmental cataract, Abnormal cornea morphology, Lentiglobus, Kera...	ORPHA:191
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Ax...	ORPHA:261552
Witteveen-Kolk Syndrome	Anisocoria, Cataract, Iris coloboma	OMIM:613406
Williams-Beuren Syndrome	Premature graying of hair, Blue irides, Hypercalcemia	OMIM:194050
Craniotubular Dysplasia, Ikegawa Type	Mydriasis	OMIM:619727
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract	OMIM:309000
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Peters anomaly	OMIM:616975
Microphthalmia, Syndromic 2	Anophthalmia, Phthisis bulbi, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:300166
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Holoprosencephaly	Microphthalmia, Anophthalmia, Iris coloboma	ORPHA:2162
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Myhre Syndrome	Microphthalmia, Cataract	OMIM:139210
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia, Astigmatism, Cataract	ORPHA:84
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Iris coloboma	OMIM:613884
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Corneal opacity, Sclerocornea, Microphthalmia, Posterior embryotoxon	ORPHA:2556
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:508498
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia	OMIM:616734
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Iris coloboma	OMIM:610828
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal pupil morphology, Melanocytic nevus, Abnormality of skin pigmentation, Hypo...	ORPHA:286
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Renpenning Syndrome 1	Microphthalmia, Cataract	OMIM:309500
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
22Q11.2 Deletion Syndrome	Microphthalmia, Posterior embryotoxon, Cataract, Corneal neovascularization	ORPHA:567
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Fryns Syndrome	Microphthalmia, Opacification of the corneal stroma	OMIM:229850
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract	OMIM:612474
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Sclerocornea, Cataract	ORPHA:3472
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Neu-Laxova Syndrome 1	Microphthalmia, Pterygium, Cataract	OMIM:256520
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
1P36 Deletion Syndrome	Cataract, Ocular albinism	ORPHA:1606
Focal Dermal Hypoplasia	Anophthalmia, Ectopia lentis, Aniridia, Microphthalmia, Iris coloboma	OMIM:305600
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Antecubital pterygium	OMIM:609945
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Iris coloboma	OMIM:620186
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Meckel Syndrome, Type 1	Microphthalmia, Iris coloboma	OMIM:249000
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Charge Syndrome	Microphthalmia, Anophthalmia, Iris coloboma	ORPHA:138
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Microphthalmia, Syndromic 6	Microcornea, Microphthalmia, Anophthalmia, Sclerocornea	OMIM:607932
Plague	Conjunctival hyperemia, Mydriasis	ORPHA:707
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Townes-Brocks Syndrome	Limbal dermoid, Microphthalmia, Cataract, Iris coloboma	ORPHA:857
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	OMIM:113620
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Aicardi Syndrome	Microphthalmia	ORPHA:50
Charge Syndrome	Anophthalmia, Cataract, Unilateral microphthalmos, Microphthalmia, Iris coloboma	OMIM:214800
Holoprosencephaly 2	Microphthalmia, Iris coloboma	OMIM:157170
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Fraser Syndrome 1	Anophthalmia, Corneal opacity, Bilateral microphthalmos	OMIM:219000
Monosomy 9P	Microphthalmia	ORPHA:261112
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Cataract, Corneal opacity, Opacification of the corneal stroma	OMIM:268300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Degcags Syndrome	Microphthalmia	OMIM:619488
Fontaine Progeroid Syndrome	Microphthalmia	OMIM:612289
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Microphthalmia, Syndromic 1	Anophthalmia, Microcornea, Ciliary body coloboma, Microphthalmia, Iris coloboma	OMIM:309800
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Astigmatism, Axenfeld anomaly, Microphthalmia, Iris coloboma	ORPHA:261537
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Mowat-Wilson Syndrome	Cataract, Astigmatism, Axenfeld anomaly, Microphthalmia, Iris coloboma	ORPHA:2152
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, Microphthalmia, Anophthalmia	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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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

Eye Morphology

X-ray

X-ray

X-ray

X-ray

Adult LacZ

X-ray

Sleep Wake

Combined SHIRPA and Dysmorphology

Auditory Brain Stem Response

Electroretinography

Electroretinography

Human diseases caused by Hsf4 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 20.1 Data