Gene Summary

Name:
GINS complex subunit 4 (Sld5 homolog)
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
increased startle reflex Gins4tm1b(EUCOMM)Hmgu HET Early adult 1.65×10-09
preweaning lethality, complete penetrance Gins4tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal retinal outer nuclear layer morphology Gins4tm1b(EUCOMM)Hmgu HET   Early adult 3.20×10-06
embryonic lethality prior to organogenesis Gins4tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
microphthalmia Gins4tm1b(EUCOMM)Hmgu HET Early adult 0.00
decreased total retina thickness Gins4tm1b(EUCOMM)Hmgu HET Early adult 7.60×10-05

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
Brain  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 0.0% (0 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
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)
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)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 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)
Pancreas 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)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
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 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

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

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Forepaw

9 Images

Eye Morphology

VIP of right eye

18 Images

Eye Morphology

VIP of left eye

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

7 Images

Eye Morphology

VIP of right fundus

18 Images

Eye Morphology

VIP of left fundus

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 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
Falciform retinal fold, Retinal dysplasia OMIM:312550
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
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
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia, Chorioretinal coloboma OMIM:616428
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Microphthalmia, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreou... OMIM:305390
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Retinal detachment OMIM:212550
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Microphthalmia, Chorioretinal coloboma, Bilateral microphthalmos OMIM:611638
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... ORPHA:83461
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Microphthalmia, Retinal degeneration, Cystoid macular degeneration OMIM:267760
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Foveal Hypoplasia 2
Optic nerve misrouting, Microphthalmia, Hypoplasia of the fovea, Foveal hyperpigmentation OMIM:609218
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia OMIM:613517
Microphthalmia, Isolated 5
Foveoschisis, Microphthalmia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina,... OMIM:611040
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Microphthalmia, Retinal fold, Subretinal fluid ORPHA:209956
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Microphthalmia, Retinal dys... OMIM:251270
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Microphthalm... ORPHA:891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Microphthalmia, Retinopathy OMIM:616171
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Gombo Syndrome
Microphthalmia OMIM:233270
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia, Microphthalmia OMIM:615113
Norrie Disease
Optic atrophy, Retinal fold, Microphthalmia, Retinal dysplasia, Hypoplasia of the iris, Retinal d... OMIM:310600
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microphthalmia, Chorioretinal coloboma ORPHA:231736
Xeroderma Pigmentosum, Complementation Group G
Tremor, Microphthalmia OMIM:278780
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Microphthalmia, Chorioretinal coloboma ORPHA:1473
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Retinal dysplasia ORPHA:324416
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Vitreoretinochoroidopathy
Microphthalmia, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhag... OMIM:193220
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia OMIM:274270
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1466
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia OMIM:615665
Mmep Syndrome
Microphthalmia ORPHA:3434
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:195
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Microphthalmia, Morning glory anomaly, Optic disc coloboma, Remnants of t... OMIM:120200
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachme... ORPHA:2788
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Warburg Micro Syndrome 4
Optic atrophy, Microphthalmia OMIM:615663
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Microphthalmia ORPHA:858
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Nance-Horan Syndrome
Retinal detachment, Microphthalmia ORPHA:627
Papillorenal Syndrome
Microphthalmia, Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Optic disc co... OMIM:120330
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Microphthalmia, Chorioretinal dysplasia, Chorioretinal lacunae, Reti... OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Microphthalmia OMIM:613153
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:1777
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Warburg Micro Syndrome 1
Optic atrophy, Microphthalmia OMIM:600118
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:290
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Adams-Oliver Syndrome 2
Optic atrophy, Microphthalmia OMIM:614219
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Spondylo-Ocular Syndrome
Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Intention tremor ORPHA:48431
Warburg Micro Syndrome 3
Optic atrophy, Microphthalmia OMIM:614222
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Microphthalmia, Syndromic 5
Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Microphthalmia OMIM:610125
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Microphthalmia OMIM:615145
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Retinal dystrophy, Microphthalmia, Chorioretinal coloboma ORPHA:139471
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Retinal fold, Tractional retinal detachment, Microphthalmia, Glial remnants anterior... ORPHA:91495
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Macular hypoplasia, Bilateral microph... ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia, Retinal degeneration OMIM:615249
Oculoauricular Syndrome
Chorioretinal coloboma, Microphthalmia, Morning glory anomaly, Retinal coloboma, Microphakia, Pht... OMIM:612109
Pierpont Syndrome
Microphthalmia ORPHA:487825
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Walker-Warburg Syndrome
Abnormality of the optic nerve, Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, R... ORPHA:899
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos, Chorioretinal coloboma OMIM:600122
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Pierpont Syndrome
Microphthalmia OMIM:602342
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Microphthalmia, Retinal fold, Phthisis bulbi, Remnants of the... OMIM:221900
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma OMIM:169550
Trisomy 13
Optic atrophy, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal retinal vas... ORPHA:3378
Refsum Disease
Abnormality of retinal pigmentation, Microphthalmia, Retinopathy ORPHA:773
Spondyloepiphyseal Dysplasia, Nishimura Type
Retinal detachment, Microphthalmia, Hypopigmentation of the fundus ORPHA:163649
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Otodental Syndrome
Lens coloboma, Microphthalmia, Retinal coloboma ORPHA:2791
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Joubert Syndrome 14
Microphthalmia, Morning glory anomaly OMIM:614424
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Optic atrophy ORPHA:370959
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma ORPHA:2328
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Retinal dystrophy, Buphthalmos, Microphthalmia OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Microphthalmia, Retinal dysplasia, Exaggerated startle response, Retinal detachment OMIM:253800
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma ORPHA:1553
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Congenital aphakia, Microphthalmia, Aniridia OMIM:610256
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Microphthalmia, Pigmentary retinopathy OMIM:610651
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Abnormality of retinal pigmentation, Microphthalmia, Retinal thinning, Cone/cone... ORPHA:85167
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Retinal coloboma ORPHA:2510
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Baraitser-Winter Syndrome 1
Microphthalmia, Chorioretinal coloboma OMIM:243310
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Microphthalmia, Chorioretinal coloboma ORPHA:494344
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Myoclonic-Astatic Epilepsy
Tremor, Microphthalmia ORPHA:1942
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Remnants of the hy... OMIM:614643
Cat Eye Syndrome
Microphthalmia, Chorioretinal coloboma OMIM:115470
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Retinopathy ORPHA:2505
Seckel Syndrome 2
Microphthalmia OMIM:606744
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Ritscher-Schinzel Syndrome 3
Microphthalmia, Chorioretinal coloboma OMIM:619135
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Microphthalmia ORPHA:2714
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microphthalmia OMIM:234050
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Oculofaciocardiodental Syndrome
Retinal detachment, Microphthalmia ORPHA:2712
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Warburg Micro Syndrome 2
Optic atrophy, Microphthalmia OMIM:614225
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Retinal coloboma OMIM:618571
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Phace Association
Optic atrophy, Optic nerve hypoplasia, Microphthalmia, Increased retinal vascularity OMIM:606519
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Congenital Fibrinogen Deficiency
Microphthalmia, Opisthotonus ORPHA:335
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Monosomy 18P
Microphthalmia ORPHA:1598
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma OMIM:244300
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Joubert Syndrome 37
Microphthalmia OMIM:619185
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Buphthalmos, Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, Retinal de... OMIM:236670
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Incontinentia Pigmenti
Optic atrophy, Microphthalmia, Hypoplasia of the fovea, Retinal vascular proliferation, Retinal d... OMIM:308300
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Optic atrophy, Microphthalmi... ORPHA:2526
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Joubert Syndrome 2
Retinal dystrophy, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma OMIM:608091
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Rodrigues Blindness
Microphthalmia OMIM:268320
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Microphthalmia, Syndromic 3
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:206900
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Steinfeld Syndrome
Microphthalmia, Retinal coloboma OMIM:184705
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema, Microphthalmia OMIM:127000
Moebius Syndrome
Microphthalmia OMIM:157900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Microphthalmia, Lenz Type
Microphthalmia, Chorioretinal coloboma, Optic disc coloboma ORPHA:568
Osteoporosis-Pseudoglioma Syndrome
Vitreoretinopathy, Phthisis bulbi, Microphthalmia OMIM:259770
Aicardi Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal coloboma, Microphthalmia, Optic... ORPHA:50
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Cohen Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Microphthalmia ORPHA:193
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia OMIM:618727
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Buphthalmos, Retinal degeneration, Microphthalmia, Retinal dysplasia, Hypoplasia o... OMIM:253280
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Marden-Walker Syndrome
Microphthalmia OMIM:248700
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Incontinentia Pigmenti
Microphthalmia, Retinal vascular proliferation, Retinal detachment, Abnormal chorioretinal morpho... ORPHA:464
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Cockayne Syndrome Type 3
Optic disc pallor, Retinal degeneration, Microphthalmia, Retinal dystrophy, Intention tremor, Ret... ORPHA:90324
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia OMIM:600123
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia, Retinal vascular tortuosity OMIM:243605
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia, Retinal coloboma OMIM:607323
Vacterl With Hydrocephalus
Anophthalmia, Abnormality of the optic nerve, Microphthalmia ORPHA:3412
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Retinal coloboma ORPHA:2839
Sandhoff Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:268800
Cockayne Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal degeneration, Micr... ORPHA:191
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Aicardi Syndrome
Optic atrophy, Microphthalmia, Chorioretinal lacunae, Optic disc coloboma, Retinal detachment OMIM:304050
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Jacobsen Syndrome
Macular hypoplasia, Microphthalmia, Chorioretinal coloboma, Optic atrophy OMIM:147791
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma ORPHA:959
Mycophenolate Mofetil Embryopathy
Microphthalmia, Chorioretinal coloboma ORPHA:268249
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Microphthalmia OMIM:201180
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal dys... ORPHA:2556
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Pigmentary retinopathy OMIM:309801
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Rod-cone dystrophy OMIM:223370
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris OMIM:613001
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Galloway-Mowat Syndrome 1
Optic atrophy, Microphthalmia, Hypoplasia of the iris OMIM:251300
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Tay-Sachs Disease
Tremor, Optic atrophy, Exaggerated startle response, Cherry red spot of the macula ORPHA:845
Cockayne Syndrome B
Optic atrophy, Microphthalmia, Hypoplasia of the iris, Tremor, Pigmentary retinopathy OMIM:133540
Trisomy 18
Abnormality of retinal pigmentation, Microphthalmia ORPHA:3380
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Holoprosencephaly
Optic atrophy, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Retinopathy ORPHA:2162
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Focal Dermal Hypoplasia
Microphthalmia, Chorioretinal coloboma, Hypoplasia of the iris ORPHA:2092
Monosomy 9Q22.3
Microphthalmia, Retinopathy ORPHA:77301
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Hallermann-Streiff Syndrome
Microphthalmia, Chorioretinal coloboma, Optic disc coloboma OMIM:234100
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
2Q31.1 Microdeletion Syndrome
Microphthalmia, Optic disc coloboma ORPHA:251014
Meckel Syndrome
Optic atrophy, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal chorioretin... ORPHA:564
Trichothiodystrophy
Bilateral microphthalmos, Retinal degeneration, Intention tremor, Macular degeneration ORPHA:33364
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Exaggerated startle response ORPHA:521426
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Cherry red spot of the macula ORPHA:79255
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Abnormality of the optic disc, Microphthalmia, Retinal coloboma ORPHA:508498
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Microphthalmia, Retinal vascular malformation ORPHA:42775
Frontorhiny
Microphthalmia ORPHA:391474
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Cousin Syndrome
Microphthalmia OMIM:260660
Histiocytoid Cardiomyopathy
Optic atrophy, Microphthalmia, Congenital aphakia ORPHA:137675
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Norrie Disease
Optic atrophy, Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Abnormal r... ORPHA:649
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Fryns Syndrome
Microphthalmia ORPHA:2059
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Papilledema, Bilateral microphthalmos ORPHA:93325
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Isolated Arrhinia
Microphthalmia ORPHA:1134
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Microphthalmia OMIM:616975
Proboscis Lateralis
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma ORPHA:141099
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610829
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Monosomy 13Q14
Microphthalmia, Retinoblastoma ORPHA:1587
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia, Phthisis bulbi, Retinal detachment, Remnants of the hyaloid vascula... OMIM:300166
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Optic disc pallor, Bilateral microphthalmos, Attenuation of retinal blood... ORPHA:468631
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Craniofacial Microsomia
Anophthalmia, Microphthalmia OMIM:164210
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Microphthalmia With Limb Anomalies
True anophthalmia, Optic atrophy, Microphthalmia ORPHA:1106
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Basal Cell Nevus Syndrome
Microphthalmia OMIM:109400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Chorioretinal dysplasia, Microphthalmia ORPHA:534
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal arteriolar tortuosity, Microphthalmia, Hypoplasia of the iris, Peripapillary atrophy, Hyp... OMIM:175780
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
22Q11.2 Deletion Syndrome
Optic atrophy, Retinal arteriolar tortuosity, Microphthalmia ORPHA:567
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Charge Syndrome
Anophthalmia, Optic atrophy, Microphthalmia, Chorioretinal coloboma ORPHA:138
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Focal Dermal Hypoplasia
Optic atrophy, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Aniridia OMIM:305600
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia ORPHA:2538
Fanconi Anemia
Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:84
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Mend Syndrome
Microphthalmia ORPHA:401973
Monosomy 9P
Microphthalmia ORPHA:261112
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Myhre Syndrome
Microphthalmia OMIM:139210
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Holoprosencephaly 2
Microphthalmia OMIM:157170
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Roberts Syndrome
Microphthalmia ORPHA:3103
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Lens coloboma, Microphthalmia, Hypoplasia of the fovea OMIM:619539
Degcags Syndrome
Microphthalmia OMIM:619488
Witteveen-Kolk Syndrome
Microphthalmia OMIM:613406
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Fryns Syndrome
Microphthalmia OMIM:229850
Charge Syndrome
Anophthalmia, Unilateral microphthalmos, Microphthalmia, Retinal coloboma OMIM:214800
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia, Retinal coloboma OMIM:113620
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Microphthalmia, Syndromic 6
Anophthalmia, Retinal dystrophy, Microphthalmia OMIM:607932
Holoprosencephaly 7
Bilateral microphthalmos OMIM:610828
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Townes-Brocks Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:857
Mowat-Wilson Syndrome
Microphthalmia, Chorioretinal coloboma OMIM:235730
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response ORPHA:438213
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Retinal coloboma ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Microphthalmia, Retinal coloboma ORPHA:261552
Microphthalmia, Syndromic 1
Anophthalmia, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma OMIM:309800
Mowat-Wilson Syndrome
Microphthalmia, Retinal coloboma ORPHA:2152
Holoprosencephaly 1
Microphthalmia OMIM:236100
Roberts-Sc Phocomelia Syndrome
Microphthalmia OMIM:268300
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Bilateral microphthalmos, Retinal coloboma ORPHA:508488

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 Gins4

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 Gins4.

No publications found that use IMPC mice or data for Gins4.

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