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
microphthalmia Gins4tm1b(EUCOMM)Hmgu HET Early adult 0.00
increased startle reflex Gins4tm1b(EUCOMM)Hmgu HET Early adult 6.32×10-12
embryonic lethality prior to organogenesis Gins4tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
abnormal retina outer nuclear layer morphology Gins4tm1b(EUCOMM)Hmgu HET   Early adult 8.77×10-06
decreased total retina thickness Gins4tm1b(EUCOMM)Hmgu HET   Early adult 1.31×10-06
preweaning lethality, complete penetrance Gins4tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
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 1.17% (6 of 511)
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 511)
embryo 0.39% (2 of 512)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 511)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 511)
heart ventricle 1.67% (1 of 60)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
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 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
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 511)
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 506)
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 511)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
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.

Eye Morphology

VIP of left eye

18 Images

Eye Morphology

VIP of right eye

18 Images

Eye Morphology

VIP of right fundus

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

7 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of left fundus

18 Images

X-ray

XRay Images Forepaw

10 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
Retinal degeneration, Microphthalmia OMIM:251700
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma OMIM:616428
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Congenital Primary Aphakia
Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, ... ORPHA:83461
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Chorioretinal coloboma OMIM:611638
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy, Microphthalmia OMIM:267760
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... OMIM:305390
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 8
Anophthalmia, Hypoplastic optic chiasm, Optic nerve hypoplasia, True anophthalmia, Microphthalmia... OMIM:615113
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Microphthalmia, Chorioretin... OMIM:251270
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia OMIM:613517
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Microphthalmia OMIM:614830
Foveal Hypoplasia 2
Foveal hyperpigmentation, Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia OMIM:609218
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Chorioretinal coloboma OMIM:120433
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Microphthalmia, Chorioretinal coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Microphthalmia, Retinal coloboma OMIM:601794
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Macular atrophy, Buphthalmos, Microphthalmia, Chorioretinal coloboma, Retinal ... OMIM:212550
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Microphthalmia, Optic disc pallor OMIM:616171
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Microphthalmia, Retinal coloboma ORPHA:363741
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalm... ORPHA:137902
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Chorioretinal coloboma, Microphthalmia, Optic atrophy ORPHA:1473
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Xeroderma Pigmentosum, Complementation Group G
Tremor, Microphthalmia OMIM:278780
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Microphthalmia ORPHA:324416
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Retinal fold, Microphthalmia, Subretinal fluid ORPHA:209956
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia, Syndromic 13
Microphthalmia, Chorioretinal coloboma OMIM:300915
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... OMIM:193220
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Optic atrophy OMIM:274270
Cofs Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Joubert Syndrome 22
Retinal dysplasia, Microphthalmia OMIM:615665
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:195
Craniotelencephalic Dysplasia
Microphthalmia, Optic atrophy, Septo-optic dysplasia ORPHA:1528
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Microphthalm... OMIM:120200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Norrie Disease
Retinal fold, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microphthalm... OMIM:310600
Mmep Syndrome
Microphthalmia ORPHA:3434
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Exudative retinopathy, Microphthalmia, Retinal detachment, Abnormal ... ORPHA:2788
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Microphthalmia OMIM:613155
Nance-Horan Syndrome
Retinal detachment, Microphthalmia ORPHA:627
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Microphthalmia OMIM:613730
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:1777
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal fold, Optic atrophy, Microphthalmia, Chorioretinal dysplasia, Retinal detachment, Chorior... OMIM:152950
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia OMIM:604229
Warburg Micro Syndrome 1
Microphthalmia, Optic atrophy OMIM:600118
Lissencephaly 8
Microphthalmia, Optic atrophy OMIM:617255
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Developmental And Epileptic Encephalopathy 1
Choreoathetosis, Dystonia, Microphthalmia OMIM:308350
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Microphthalmia OMIM:615145
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormality of retinal pigmentation ORPHA:290
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Intention tremor ORPHA:48431
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Microphthalmia OMIM:613153
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling, Dystonia, Microphthalmia OMIM:614105
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic disc pallor, Optic atrophy OMIM:609541
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Retinal dystrophy, Anophthalmia, Chorioretinal coloboma ORPHA:139471
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Optic atrophy OMIM:615085
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Macular hypoplasia, Hyaloid vascular remnant and ret... ORPHA:91495
Microphthalmia, Syndromic 5
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Optic disc pallor, Optic atrophy ORPHA:320406
Autosomal Dominant Keratitis
Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, A... ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration, Abnormally large globe, Microphthalmia OMIM:615249
Oculoauricular Syndrome
Rod-cone dystrophy, Morning glory anomaly, Cone/cone-rod dystrophy, Macular hypoplasia, Microphth... OMIM:612109
Pierpont Syndrome
Microphthalmia ORPHA:487825
Walker-Warburg Syndrome
Anophthalmia, Optic atrophy, Retinal dystrophy, Retinal dysplasia, Microphthalmia, Chorioretinal ... ORPHA:899
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Pierpont Syndrome
Microphthalmia OMIM:602342
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Buphthalmos, Retinal nonattachment, Remnants of the hyaloid vascular system, Microp... OMIM:221900
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Hypopigmentation of the fundus, Microphthalmia ORPHA:163649
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia, Cherry red spot of the macula ORPHA:309246
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Microphthalmia OMIM:169550
Otodental Syndrome
Microphthalmia, Retinal coloboma, Lens coloboma ORPHA:2791
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Refsum Disease
Retinopathy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:773
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Microphthalmia, Optic atrophy, Optic nerve hypoplasia ORPHA:370959
Trisomy 13
Anophthalmia, Optic atrophy, Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal retinal vas... ORPHA:3378
Papillorenal Syndrome
Morning glory anomaly, Macular degeneration, Chorioretinal atrophy, Microphthalmia, Macular hyper... OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy, Retinal dysplasia, Microphthalmia, Retinal detachment OMIM:253800
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Optic atrophy OMIM:612379
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma ORPHA:2328
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma OMIM:218340
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Adams-Oliver Syndrome 2
Microphthalmia, Optic atrophy OMIM:614219
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Curry-Jones Syndrome
Optic disc coloboma, Microphthalmia ORPHA:1553
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Pierson Syndrome
Retinal hemorrhage, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Hypoplasi... OMIM:609049
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Microphthalmia, Optic atrophy ORPHA:494344
Micro Syndrome
Retinal coloboma, Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2510
Xeroderma Pigmentosum, Complementation Group B
Pigmentary retinopathy, Microphthalmia, Optic atrophy OMIM:610651
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin... ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Retinal dystrophy, Microphthalmia OMIM:616538
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy OMIM:616881
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Monosomy 18P
Generalized dystonia, Microphthalmia ORPHA:1598
Baraitser-Winter Syndrome 1
Microphthalmia, Chorioretinal coloboma OMIM:243310
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Sandhoff Disease, Infantile Form
Exaggerated startle response, Cherry red spot of the macula ORPHA:309155
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Myoclonic-Astatic Epilepsy
Tremor, Microphthalmia ORPHA:1942
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia OMIM:610256
Seckel Syndrome 2
Microphthalmia OMIM:606744
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hyaloid vascular system, Microphthalmi... OMIM:614643
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia ORPHA:2714
Multiple Benign Circumferential Skin Creases On Limbs
Retinopathy, Microphthalmia ORPHA:2505
Ritscher-Schinzel Syndrome 3
Microphthalmia, Chorioretinal coloboma OMIM:619135
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Oculofaciocardiodental Syndrome
Retinal detachment, Microphthalmia ORPHA:2712
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Joubert Syndrome 14
Morning glory anomaly, Microphthalmia, Optic atrophy OMIM:614424
Warburg Micro Syndrome 4
Microphthalmia, Optic atrophy OMIM:615663
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Retinal coloboma OMIM:618571
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Congenital Fibrinogen Deficiency
Opisthotonus, Microphthalmia ORPHA:335
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Optic atrophy OMIM:234050
Phace Association
Increased retinal vascularity, Microphthalmia, Optic atrophy, Optic nerve hypoplasia OMIM:606519
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Warburg Micro Syndrome 3
Microphthalmia, Optic atrophy OMIM:614222
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal retinal morphology OMIM:610758
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma OMIM:244300
Joubert Syndrome 37
Microphthalmia OMIM:619185
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinopathy, Anophthalmia, Optic atrophy, Retinal dystrophy, Abnormality of retinal pigmentation,... ORPHA:2526
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Buphthalmos, Retinal dysplasia, Microphth... OMIM:236670
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Optic atrophy, Septo-optic dysplasia ORPHA:3301
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Rodrigues Blindness
Microphthalmia OMIM:268320
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Warburg Micro Syndrome 2
Microphthalmia, Optic atrophy OMIM:614225
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Moebius Syndrome
Microphthalmia OMIM:157900
Incontinentia Pigmenti
Retinal hemorrhage, Retinal vascular proliferation, Optic atrophy, Hypoplasia of the fovea, Micro... OMIM:308300
Kenny-Caffey Syndrome, Type 2
Papilledema, Microphthalmia, Retinal calcification OMIM:127000
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Cohen Syndrome
Chorioretinal dystrophy, Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:193
Joubert Syndrome 2
Retinal dystrophy, Optic disc coloboma, Microphthalmia, Chorioretinal coloboma OMIM:608091
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy, Microphthalmia OMIM:614230
Microphthalmia, Lenz Type
Optic disc coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:568
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Steinfeld Syndrome
Microphthalmia, Retinal coloboma OMIM:184705
Aicardi Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Chorioretinal coloboma, Retin... ORPHA:50
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Optic atrophy OMIM:618727
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor OMIM:618056
Tay-Sachs Disease
Exaggerated startle response, Optic atrophy, Tremor, Laryngeal dystonia, Dystonia, Cherry red spo... ORPHA:845
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Gracile Bone Dysplasia
Microphthalmia, Aniridia OMIM:602361
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Sandhoff Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:268800
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Dystonia, Microphthalmia, Optic atrophy OMIM:251300
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Incontinentia Pigmenti
Retinal hemorrhage, Retinal vascular proliferation, Abnormal chorioretinal morphology, Microphtha... ORPHA:464
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Microphthalmia OMIM:278730
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Stromme Syndrome
Retinal vascular tortuosity, Microphthalmia, Optic nerve hypoplasia OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Optic atrophy, Retinal atrophy, Retinal degeneration, Buphthalmos, Reti... OMIM:253280
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Marden-Walker Syndrome
Microphthalmia OMIM:248700
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Cockayne Syndrome Type 3
Retinal hemorrhage, Retinal atrophy, Retinal degeneration, Retinal dystrophy, Microphthalmia, Opt... ORPHA:90324
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia, Retinal coloboma OMIM:607323
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Retinal coloboma ORPHA:2839
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Osteoporosis-Pseudoglioma Syndrome
Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Microphthalmia, Phthisis bulbi OMIM:259770
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Vacterl With Hydrocephalus
Microphthalmia, Abnormal optic nerve morphology, Anophthalmia ORPHA:3412
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia, Optic atrophy ORPHA:521426
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Cockayne Syndrome
Pigmentary retinopathy, Retinal hemorrhage, Retinal arteriolar constriction, Optic atrophy, Retin... ORPHA:191
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Cherry red spot of the macula ORPHA:79255
Hallermann-Streiff Syndrome
Optic disc coloboma, Choreoathetosis, Microphthalmia, Chorioretinal coloboma OMIM:234100
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Holoprosencephaly
Retinopathy, Anophthalmia, Optic atrophy, Microphthalmia, Chorioretinal coloboma, Dystonia ORPHA:2162
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Mycophenolate Mofetil Embryopathy
Microphthalmia, Chorioretinal coloboma ORPHA:268249
Aicardi Syndrome
Optic atrophy, Microphthalmia, Retinal detachment, Optic disc coloboma, Chorioretinal lacunae OMIM:304050
Jacobsen Syndrome
Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Optic atrophy OMIM:147791
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy OMIM:617527
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Vitritis, Retinal dystrophy, Abnormality of retinal pigmentation, Retinal dysplasia... ORPHA:2556
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Premature Aging Syndrome, Penttinen Type
Hypermyelinated retinal nerve fibers, Microphthalmia OMIM:601812
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia, Chorioretinal coloboma ORPHA:2092
Trisomy 18
Microphthalmia, Abnormality of retinal pigmentation ORPHA:3380
Acro-Renal-Ocular Syndrome
Optic disc coloboma, Optic disc hypoplasia, Microphthalmia, Chorioretinal coloboma ORPHA:959
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Optic atrophy OMIM:201180
Cat Eye Syndrome
Microphthalmia, Chorioretinal coloboma OMIM:115470
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Monosomy 9Q22.3
Retinopathy, Microphthalmia ORPHA:77301
Cockayne Syndrome B
Optic atrophy, Hypoplasia of the iris, Tremor, Microphthalmia, Pigmentary retinopathy OMIM:133540
Dubowitz Syndrome
Hypoplasia of the iris, Rod-cone dystrophy, Microphthalmia OMIM:223370
2Q31.1 Microdeletion Syndrome
Optic disc coloboma, Microphthalmia ORPHA:251014
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Microphthalmia OMIM:309801
Meckel Syndrome
Anophthalmia, Optic atrophy, Aplasia/Hypoplasia of the iris, Abnormal chorioretinal morphology, M... ORPHA:564
Trichothiodystrophy
Retinal degeneration, Bilateral microphthalmos, Macular degeneration, Intention tremor ORPHA:33364
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Peripapillary atrophy, Hypoplasia of the iris, Limb dystonia, Retinal arterio... OMIM:175780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal optic disc morphology, Microphthalmia, Retinal coloboma, Optic nerve hypoplasia ORPHA:508498
Frontorhiny
Microphthalmia ORPHA:391474
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Phace Syndrome
Lens coloboma, Retinal vascular malformation, Microphthalmia, Optic nerve hypoplasia ORPHA:42775
Histiocytoid Cardiomyopathy
Microphthalmia, Optic atrophy, Congenital aphakia ORPHA:137675
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Norrie Disease
Optic atrophy, Hypoplasia of the iris, Abnormal chorioretinal morphology, Remnants of the hyaloid... ORPHA:649
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Fryns Syndrome
Microphthalmia ORPHA:2059
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Papilledema, Retinal calcification ORPHA:93325
Meckel Syndrome 14
Microphthalmia OMIM:619879
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Isolated Arrhinia
Microphthalmia ORPHA:1134
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Chromosome 13Q14 Deletion Syndrome
Retinoblastoma, Microphthalmia, Chorioretinal coloboma OMIM:613884
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Optic atrophy OMIM:616975
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia, Optic atrophy ORPHA:1106
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma ORPHA:141099
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Cousin Syndrome
Microphthalmia OMIM:260660
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Microphthalmia, Syndromic 2
Anophthalmia, Remnants of the hyaloid vascular system, Microphthalmia, Retinal detachment, Phthis... OMIM:300166
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Monosomy 13Q14
Retinoblastoma, Microphthalmia ORPHA:1587
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic disc pallor, Attenuation of retinal blood vessels, Optic nerve hy... ORPHA:468631
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Treacher-Collins Syndrome
Blepharospasm, Microphthalmia ORPHA:861
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Chorioretinal dysplasia ORPHA:534
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia OMIM:601186
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
22Q11.2 Deletion Syndrome
Retinal arteriolar tortuosity, Microphthalmia, Optic atrophy ORPHA:567
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Microphthalmia OMIM:609945
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Charge Syndrome
Chorioretinal coloboma, Microphthalmia, Optic atrophy, Anophthalmia ORPHA:138
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
Focal Dermal Hypoplasia
Anophthalmia, Optic atrophy, Microphthalmia, Chorioretinal coloboma, Aniridia OMIM:305600
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia OMIM:610828
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Mend Syndrome
Microphthalmia ORPHA:401973
Monosomy 9P
Microphthalmia ORPHA:261112
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Myhre Syndrome
Microphthalmia OMIM:139210
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Microphthalmia, Chorioretinal coloboma OMIM:157170
Roberts Syndrome
Microphthalmia ORPHA:3103
Fryns Syndrome
Microphthalmia OMIM:229850
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Degcags Syndrome
Microphthalmia OMIM:619488
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Hypoplasia of the fovea, Microphthalmia, Lens coloboma OMIM:619539
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Microphthalmia OMIM:612474
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Charge Syndrome
Microphthalmia, Unilateral microphthalmos, Retinal coloboma, Anophthalmia OMIM:214800
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Microphthalmia, Syndromic 6
Microphthalmia, Retinal dystrophy, Anophthalmia OMIM:607932
Fontaine Progeroid Syndrome