Gene Summary

Name:
GINS complex subunit 4
Synonyms:
SLD5,  4933405K01Rik,  2810037C03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total retina thickness Gins4tm1b(EUCOMM)Hmgu HET   Early adult 1.32×10-06
increased startle reflex Gins4tm1b(EUCOMM)Hmgu HET Early adult 1.65×10-09
embryonic lethality prior to organogenesis Gins4tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
microphthalmia Gins4tm1b(EUCOMM)Hmgu HET Early adult 0.00
preweaning lethality, complete penetrance Gins4tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal retina morphology Gins4tm1b(EUCOMM)Hmgu HET Early adult 7.10×10-05
abnormal retina outer nuclear layer morphology Gins4tm1b(EUCOMM)Hmgu HET   Early adult 7.43×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem 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)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 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 0.0% (0 of 2)
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 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 2)
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
Heart atrium N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

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%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 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%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 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%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
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)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Eye Morphology

VIP of left eye

18 Images

Eye Morphology

VIP of right eye

18 Images

Eye Morphology

VIP of left fundus

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Eye Morphology

VIP of right fundus

18 Images

Adult LacZ

LacZ Images Wholemount

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

Embryo LacZ

LacZ images wholemount

4 Images

Human diseases caused by Gins4 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.

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

The table below shows human diseases predicted to be associated to Gins4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Microphthalmia OMIM:614497
Microphthalmia/Coloboma 10
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia OMIM:616428
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Anophthalmia, Chorioretinal coloboma, Microphthalmia OMIM:611638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Microphthalmia, Isolated 8
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... OMIM:615113
Idiopathic Uveal Effusion Syndrome
Retinal fold, Subretinal fluid, Exudative retinal detachment, Microphthalmia ORPHA:209956
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretinal dysplas... OMIM:251270
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia OMIM:613517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Microphthalmia OMIM:614830
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Foveal Hypoplasia 2
Hypoplasia of the fovea, Foveal hyperpigmentation, Optic nerve misrouting, Microphthalmia OMIM:609218
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Chorioretinal coloboma, Microphthalmia OMIM:120433
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Microphthalmia, Chorioretinal coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Gombo Syndrome
Microphthalmia OMIM:233270
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Macular atrophy, Retinal detachment, Microphthalmia, Buphthalmos, Retinal... OMIM:212550
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Retinopathy, Macular atrophy, Microphthalmia, Optic disc pallor OMIM:616171
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma, Microphthalmia ORPHA:1473
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Oculorenocerebellar Syndrome
Choreoathetosis, Retinal degeneration OMIM:257970
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Microphthalmia ORPHA:324416
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Congenital Primary Aphakia
Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phth... ORPHA:83461
Microphthalmia, Syndromic 13
Chorioretinal coloboma, Microphthalmia OMIM:300915
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia OMIM:274270
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1466
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Xeroderma Pigmentosum, Complementation Group G
Tremor, Microphthalmia OMIM:278780
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Joubert Syndrome 22
Retinal dysplasia, Microphthalmia OMIM:615665
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Norrie Disease
Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal detachment, Microphthalmia, Retinal f... OMIM:310600
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Cat-Eye Syndrome
Chorioretinal coloboma, Microphthalmia ORPHA:195
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Exudative re... ORPHA:2788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Microphthalmia OMIM:613155
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Microphthalmia ORPHA:858
Nance-Horan Syndrome
Retinal detachment, Microphthalmia ORPHA:627
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Microphthalmia OMIM:613730
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Retinal detachment, Chorioretinal lacunae, Chorioretinal dysplasia, Microphthalmia... OMIM:152950
Temtamy Syndrome
Chorioretinal coloboma, Microphthalmia ORPHA:1777
Mmep Syndrome
Microphthalmia ORPHA:3434
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Microphthalmia/Coloboma 9
Retinal detachment, Macular coloboma, Microphthalmia OMIM:615145
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Lissencephaly 8
Optic atrophy, Microphthalmia OMIM:617255
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Warburg Micro Syndrome 1
Optic atrophy, Microphthalmia OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Microphthalmia OMIM:613153
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Microphthalmia ORPHA:290
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Microphthalmia OMIM:300887
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Chorioretinal coloboma, Retinal dystrophy ORPHA:139471
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,... ORPHA:91495
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Unilateral microphthalmos OMIM:615085
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Retinal degeneration OMIM:615249
Oculoauricular Syndrome
Chorioretinal coloboma, Retinal coloboma, Chorioretinal atrophy, Cone/cone-rod dystrophy, Macular... OMIM:612109
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Dystonia, Retinal pigment epithelial mottling, Microphthalmia OMIM:614105
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Developmental And Epileptic Encephalopathy 1
Dystonia, Choreoathetosis, Microphthalmia OMIM:308350
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Walker-Warburg Syndrome
Optic atrophy, Abnormal optic nerve morphology, Anophthalmia, Retinal detachment, Chorioretinal d... ORPHA:899
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intention tremor, Microphthalmia ORPHA:48431
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Phthisis bulbi, Buphthalmos, Remnants of the hyaloid vascular system, Micr... OMIM:221900
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Hypopigmentation of the fundus, Microphthalmia ORPHA:163649
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Pierpont Syndrome
Microphthalmia ORPHA:487825
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Microphthalmia OMIM:169550
Otodental Syndrome
Microphthalmia, Lens coloboma, Retinal coloboma ORPHA:2791
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic atrophy, Retinal detachment, Optic nerve hypoplasia ORPHA:370959
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal detachment, Exaggerated startle response, Microphthalmia, Retinal dysplasia OMIM:253800
Pierpont Syndrome
Microphthalmia OMIM:602342
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma ORPHA:2328
Papillorenal Syndrome
Macular degeneration, Optic disc coloboma, Retinal coloboma, Chorioretinal atrophy, Macular hyper... OMIM:120330
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy, Microphthalmia ORPHA:773
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Microphthalmia OMIM:612379
Adams-Oliver Syndrome 2
Optic atrophy, Microphthalmia OMIM:614219
Trisomy 13
Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Abnormal retinal vascular morphology... ORPHA:3378
Temtamy Syndrome
Chorioretinal coloboma, Microphthalmia OMIM:218340
Curry-Jones Syndrome
Optic disc coloboma, Microphthalmia ORPHA:1553
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Exaggerated startle response OMIM:616881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Retinal dystrophy, Microphthalmia OMIM:616538
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Pigmentary retinopathy, Microphthalmia OMIM:610651
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Rieger anoma... OMIM:609049
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Micro Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma ORPHA:2510
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Chorioretinal coloboma, Microphthalmia ORPHA:494344
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia ORPHA:2714
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Cone/cone-rod dystrop... OMIM:608940
Sandhoff Disease, Infantile Form
Exaggerated startle response, Cherry red spot of the macula ORPHA:309155
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Microphthalmia OMIM:243310
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia, Retinal dysplasia, O... OMIM:614643
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Multiple Benign Circumferential Skin Creases On Limbs
Retinopathy, Microphthalmia ORPHA:2505
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Retinal coloboma OMIM:618571
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Oculofaciocardiodental Syndrome
Retinal detachment, Microphthalmia ORPHA:2712
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Ritscher-Schinzel Syndrome 3
Chorioretinal coloboma, Microphthalmia OMIM:619135
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Warburg Micro Syndrome 4
Optic atrophy, Microphthalmia OMIM:615663
Monosomy 18P
Generalized dystonia, Microphthalmia ORPHA:1598
Myoclonic-Astatic Epilepsy
Tremor, Microphthalmia ORPHA:1942
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Joubert Syndrome 14
Optic atrophy, Morning glory anomaly, Microphthalmia OMIM:614424
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Phace Association
Microphthalmia, Optic atrophy, Increased retinal vascularity, Optic nerve hypoplasia OMIM:606519
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma OMIM:244300
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microphthalmia OMIM:234050
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal retinal morphology OMIM:610758
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Abnormal optic nerve morphology, Retinopathy, Abnormality of retinal pigmentation,... ORPHA:2526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal atrophy, Retinal detachment, Microphthalmia, Buphthalmos, Retinal dysplasi... OMIM:236670
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema, Microphthalmia OMIM:127000
Warburg Micro Syndrome 3
Optic atrophy, Microphthalmia OMIM:614222
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Joubert Syndrome 2
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma, Retinal dystrophy OMIM:608091
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Warburg Micro Syndrome 2
Optic atrophy, Microphthalmia OMIM:614225
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Seckel Syndrome 2
Microphthalmia OMIM:606744
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Congenital Fibrinogen Deficiency
Opisthotonus, Microphthalmia ORPHA:335
Incontinentia Pigmenti
Optic atrophy, Hypoplasia of the fovea, Retinal vascular proliferation, Retinal detachment, Micro... OMIM:308300
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Joubert Syndrome 37
Microphthalmia OMIM:619185
Microphthalmia, Lenz Type
Optic disc coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:568
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Cohen Syndrome
Chorioretinal dystrophy, Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:193
Steinfeld Syndrome
Microphthalmia, Retinal coloboma OMIM:184705
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy, Microphthalmia OMIM:614230
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia OMIM:618727
Aicardi Syndrome
Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ... ORPHA:50
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Moebius Syndrome
Microphthalmia OMIM:157900
Tay-Sachs Disease
Optic atrophy, Laryngeal dystonia, Cherry red spot of the macula, Tremor, Exaggerated startle res... ORPHA:845
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Exaggerated startle response OMIM:617281
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Rodrigues Blindness
Microphthalmia OMIM:268320
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Sandhoff Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:268800
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Incontinentia Pigmenti
Retinal vascular proliferation, Retinal detachment, Microphthalmia, Retinal hemorrhage, Abnormal ... ORPHA:464
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Hypoplasia of the retina, Retinal degeneration, Retinal atrophy, Microphthalmia, B... OMIM:253280
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Vacterl With Hydrocephalus
Abnormal optic nerve morphology, Anophthalmia, Microphthalmia ORPHA:3412
Cockayne Syndrome Type 3
Retinal degeneration, Retinal atrophy, Microphthalmia, Retinal hemorrhage, Optic disc pallor, Int... ORPHA:90324
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Galloway-Mowat Syndrome 1
Optic atrophy, Dystonia, Hypoplasia of the iris, Microphthalmia OMIM:251300
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Retinal coloboma ORPHA:2839
Stromme Syndrome
Microphthalmia, Retinal vascular tortuosity, Optic nerve hypoplasia OMIM:243605
Osteoporosis-Pseudoglioma Syndrome
Vitreoretinopathy, Phthisis bulbi, Exudative retinopathy, Microphthalmia, Retinal calcification OMIM:259770
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia, Retinal coloboma OMIM:607323
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Exaggerated startle response ORPHA:521426
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Exaggerated startle response OMIM:620451
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Optic nerve hypoplasia OMIM:615574
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cockayne Syndrome
Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of retinal pi... ORPHA:191
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Microphthalmia OMIM:620185
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Hallermann-Streiff Syndrome
Optic disc coloboma, Choreoathetosis, Chorioretinal coloboma, Microphthalmia OMIM:234100
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Microphthalmia OMIM:201180
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Microphthalmia ORPHA:268249
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Anophthalmia, Abnormal vitreous humor morphology, Chorioreti... ORPHA:2556
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Aicardi Syndrome
Optic atrophy, Optic disc coloboma, Retinal detachment, Chorioretinal lacunae, Microphthalmia OMIM:304050
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Microphthalmia OMIM:278730
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Holoprosencephaly
Optic atrophy, Chorioretinal coloboma, Anophthalmia, Retinopathy, Microphthalmia, Dystonia ORPHA:2162
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Cherry red spot of the macula ORPHA:79255
Jacobsen Syndrome
Macular hypoplasia, Optic atrophy, Chorioretinal coloboma, Microphthalmia OMIM:147791
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Cat Eye Syndrome
Chorioretinal coloboma, Microphthalmia OMIM:115470
Monosomy 9Q22.3
Retinopathy, Microphthalmia ORPHA:77301
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Microphthalmia, Syndromic 3
Optic nerve aplasia, Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Premature Aging Syndrome, Penttinen Type
Hypermyelinated retinal nerve fibers, Microphthalmia OMIM:601812
Acro-Renal-Ocular Syndrome
Optic disc coloboma, Optic disc hypoplasia, Chorioretinal coloboma, Microphthalmia ORPHA:959
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Trisomy 18
Abnormality of retinal pigmentation, Microphthalmia ORPHA:3380
Focal Dermal Hypoplasia
Hypoplasia of the iris, Chorioretinal coloboma, Microphthalmia ORPHA:2092
2Q31.1 Microdeletion Syndrome
Optic disc coloboma, Microphthalmia ORPHA:251014
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Hypoplasia of the iris, Tremor, Microphthalmia OMIM:133540
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Microphthalmia OMIM:309801
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Dubowitz Syndrome
Hypoplasia of the iris, Rod-cone dystrophy, Microphthalmia OMIM:223370
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Trichothiodystrophy
Macular degeneration, Intention tremor, Bilateral microphthalmos, Retinal degeneration ORPHA:33364
Meckel Syndrome
Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Abnormal chorioretin... ORPHA:564
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypopigmentation of the fundus, Hypoplasia of the iris, Retinal arteriolar tortuosity, Peripapill... OMIM:175780
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Abnormal optic disc morphology, Optic nerve hypoplasia, Retinal coloboma ORPHA:508498
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Phace Syndrome
Retinal vascular malformation, Lens coloboma, Microphthalmia, Optic nerve hypoplasia ORPHA:42775
Norrie Disease
Optic atrophy, Hypoplasia of the iris, Abnormal vitreous humor morphology, Abnormal retinal vascu... ORPHA:649
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Papilledema, Bilateral microphthalmos ORPHA:93325
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Histiocytoid Cardiomyopathy
Optic atrophy, Congenital aphakia, Microphthalmia ORPHA:137675
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Frontorhiny
Microphthalmia ORPHA:391474
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Chromosome 13Q14 Deletion Syndrome
Retinoblastoma, Chorioretinal coloboma, Microphthalmia OMIM:613884
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Microphthalmia, Syndromic 2
Anophthalmia, Phthisis bulbi, Retinal detachment, Remnants of the hyaloid vascular system, Microp... OMIM:300166
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Fryns Syndrome
Microphthalmia ORPHA:2059
Microphthalmia With Limb Anomalies
Optic atrophy, True anophthalmia, Microphthalmia ORPHA:1106
Proboscis Lateralis
Optic disc coloboma, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Optic nerve hypoplasia ORPHA:141099
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Meckel Syndrome 14
Microphthalmia OMIM:619879
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Microphthalmia OMIM:616975
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Monosomy 13Q14
Retinoblastoma, Microphthalmia ORPHA:1587
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Attenuation of retinal blood vessels, Bilateral microphthalmos, Optic nerve hy... ORPHA:468631
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236