Gene Summary

Name:
adenylosuccinate lyase
Synonyms:
N/A

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
embryonic lethality prior to organogenesis Adsltm1b(KOMP)Wtsi HOM   E9.5 0.00
microphthalmia Adsltm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Adsltm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal retina morphology Adsltm1b(KOMP)Wtsi HET   Early adult 2.65×10-06
abnormal retina vasculature morphology Adsltm1b(KOMP)Wtsi HET Early adult 9.49×10-06

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote Not available
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote Ambiguous
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 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 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain 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)
Cecum 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)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
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)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 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 100% (2 of 2)
Mesonephros of male N/A heterozygote 100% (2 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

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

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

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

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

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

Associated Images

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

Embryo LacZ

LacZ images wholemount

1 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of right fundus

7 Images

Adult LacZ

LacZ Images Wholemount

9 Images

Eye Morphology

VIP of left eye

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of left fundus

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of right eye

7 Images

Human diseases caused by Adsl 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Adenylosuccinate Lyase Deficiency
ORPHA:46
Adenylosuccinase Deficiency
OMIM:103050

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Congenital Disorder Of Glycosylation, Type Icc
Type I transferrin isoform profile OMIM:301031
Fructose And Galactose Intolerance
Fructose intolerance, Galactose intolerance OMIM:229500
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Inferior chorioretinal coloboma OMIM:614497
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma OMIM:616428
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... ORPHA:83461
Carpal Tunnel Syndrome 1
Reduced circulating vitamin B6 level OMIM:115430
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma OMIM:611638
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Microphthalmia, Isolated 6
Microphthalmia, Retinal fold OMIM:613517
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Abnormal glycosylation OMIM:615596
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting OMIM:609218
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Gombo Syndrome
Microphthalmia OMIM:233270
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Retinal dystrophy, Chorioretinal coloboma ORPHA:231736
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Chorioretinal coloboma OMIM:120433
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Abnormal retinal vascular morphology, Abnorma... ORPHA:190
Tyrosinemia Type 2
Abnormality of amino acid metabolism ORPHA:28378
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr... OMIM:212550
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Pernicious Anemia
Malabsorption of Vitamin B12 OMIM:170900
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Essential Fructosuria
Impairment of fructose metabolism ORPHA:2056
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy OMIM:616171
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Microphthalmia, Optic atrophy, Chorioretinal coloboma ORPHA:1473
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Retinal dysplasia ORPHA:324416
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid ORPHA:209956
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Microphthalmia, Syndromic 13
Microphthalmia, Chorioretinal coloboma OMIM:300915
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Optic atrophy OMIM:274270
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Abnormality of amino acid metabolism ORPHA:220295
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating vitamin E concentration, Abnormality of amino acid metabolism ORPHA:309854
Cofs Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Norrie Disease
Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp... OMIM:310600
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia OMIM:615665
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Classic Homocystinuria
Abnormality of amino acid metabolism ORPHA:394
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:195
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Mmep Syndrome
Microphthalmia ORPHA:3434
Galactose Epimerase Deficiency
Impairment of galactose metabolism ORPHA:79238
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Abnormal vitreous humor morphology, Exudative retinopathy, Exudative vitreore... ORPHA:2788
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Galactose Mutarotase Deficiency
Impairment of galactose metabolism ORPHA:570422
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system OMIM:257910
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Retinal dystrophy OMIM:613155
Nance-Horan Syndrome
Retinal detachment, Microphthalmia ORPHA:627
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Optic disc pallor OMIM:613730
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Microphthalmia... OMIM:152950
Lissencephaly 8
Microphthalmia, Optic atrophy OMIM:617255
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:1777
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Microphthalmia, Macular coloboma OMIM:615145
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Warburg Micro Syndrome 1
Microphthalmia, Optic atrophy OMIM:600118
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor OMIM:300887
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Unilateral microphthalmos OMIM:615085
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Microphthalmia OMIM:613153
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Retinal dystrophy, Chorioretinal coloboma ORPHA:139471
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormality of retinal pigmentation ORPHA:290
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Spondylo-Ocular Syndrome
Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal... OMIM:612109
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Retinal degeneration, Abnormally large globe OMIM:615249
Walker-Warburg Syndrome
Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abno... ORPHA:899
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Pierpont Syndrome
Microphthalmia ORPHA:487825
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Retinal nonattachment, Micr... OMIM:221900
Pierpont Syndrome
Microphthalmia OMIM:602342
Aspartylglucosaminuria
Abnormality of amino acid metabolism ORPHA:93
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma OMIM:169550
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Microphthalmia, Hypopigmentation of the fundus ORPHA:163649
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Otodental Syndrome
Microphthalmia, Lens coloboma, Retinal coloboma ORPHA:2791
Stt3A-Cdg
Abnormal glycosylation ORPHA:370921
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Congenital Disorder Of Glycosylation, Type Iiq
Abnormal glycosylation OMIM:617395
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Retinal pigment epithelial mottling OMIM:614105
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Microphthalmia, Optic atrophy, Optic nerve hypoplasia ORPHA:370959
Trisomy 13
Anophthalmia, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia of the iris... ORPHA:3378
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Optic atrophy OMIM:612379
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma ORPHA:2328
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Refsum Disease
Retinopathy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:773
Stt3B-Cdg
Abnormal glycosylation ORPHA:370924
Adams-Oliver Syndrome 2
Microphthalmia, Optic atrophy OMIM:614219
Congenital Disorder Of Glycosylation, Type Iio
Abnormal glycosylation OMIM:616828
Morgagni-Stewart-Morel Syndrome
Abnormal metabolism ORPHA:77296
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma ORPHA:1553
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma OMIM:218340
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... OMIM:609049
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Congenital Disorder Of Glycosylation, Type Ix
Abnormal glycosylation OMIM:615597
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Retinal dystrophy OMIM:616538
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Optic atrophy, Chorioretinal coloboma ORPHA:494344
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Micro Syndrome
Microphthalmia, Optic atrophy, Retinal coloboma, Abnormality of retinal pigmentation ORPHA:2510
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Optic atrophy, Pigmentary retinopathy OMIM:610651
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Baraitser-Winter Syndrome 1
Microphthalmia, Chorioretinal coloboma OMIM:243310
Seckel Syndrome 2
Microphthalmia OMIM:606744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system ORPHA:2714
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Phace Association
Microphthalmia, Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia OMIM:606519
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Warburg Micro Syndrome 4
Microphthalmia, Optic atrophy OMIM:615663
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Retinopathy ORPHA:2505
Ritscher-Schinzel Syndrome 3
Microphthalmia, Chorioretinal coloboma OMIM:619135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Microphthalmia, Optic atrophy, Retinal dysplasia OMIM:253800
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Retinal coloboma OMIM:618571
Oculofaciocardiodental Syndrome
Retinal detachment, Microphthalmia ORPHA:2712
Joubert Syndrome 14
Microphthalmia, Optic atrophy, Morning glory anomaly OMIM:614424
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Optic atrophy OMIM:234050
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... ORPHA:2526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Buphthalmos, Retinal ... OMIM:236670
Slc35A2-Cdg
Abnormal glycosylation, Decreased galactosylation of N-linked protein glycosylation, Decreased si... ORPHA:356961
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Warburg Micro Syndrome 3
Microphthalmia, Optic atrophy OMIM:614222
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma OMIM:244300
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal retinal morphology OMIM:610758
Joubert Syndrome 37
Microphthalmia OMIM:619185
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:3301
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
Rodrigues Blindness
Microphthalmia OMIM:268320
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Monosomy 18P
Microphthalmia ORPHA:1598
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Microphthalmia, Papilledema OMIM:127000
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Warburg Micro Syndrome 2
Microphthalmia, Optic atrophy OMIM:614225
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Retinal vascular proliferation, Optic atrophy, Retin... OMIM:308300
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Moebius Syndrome
Microphthalmia OMIM:157900
Joubert Syndrome 2
Microphthalmia, Optic disc coloboma, Retinal dystrophy, Chorioretinal coloboma OMIM:608091
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Steinfeld Syndrome
Microphthalmia, Retinal coloboma OMIM:184705
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Microphthalmia, Lenz Type
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma ORPHA:568
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Cohen Syndrome
Microphthalmia, Chorioretinal dystrophy, Optic atrophy, Abnormality of retinal pigmentation ORPHA:193
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Optic atrophy OMIM:618727
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... ORPHA:50
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Pigmentary retinopathy OMIM:614230
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Stromme Syndrome
Retinal vascular tortuosity, Microphthalmia, Optic nerve hypoplasia OMIM:243605
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Incontinentia Pigmenti
Retinal detachment, Abnormal chorioretinal morphology, Retinal vascular proliferation, Retinal he... ORPHA:464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasia, Microph... OMIM:253280
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Abnormal optic nerve morphology ORPHA:3412
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Microphthalmia OMIM:259770
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia, Retinal coloboma OMIM:607323
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Retinal coloboma ORPHA:2839
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Congenital Bile Acid Synthesis Defect Type 3
Abnormality of vitamin metabolism ORPHA:79302
Atelis Syndrome 2
Microphthalmia, Remnants of the hyaloid vascular system, Vitreous hemorrhage OMIM:620185
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Mycophenolate Mofetil Embryopathy
Microphthalmia, Chorioretinal coloboma ORPHA:268249
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Optic atrophy OMIM:201180
Aicardi Syndrome
Retinal detachment, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Microphthalmia OMIM:304050
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Optic atrophy OMIM:251300
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Microphthalmia, Retina... ORPHA:90324
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Jacobsen Syndrome
Microphthalmia, Optic atrophy, Macular hypoplasia, Chorioretinal coloboma OMIM:147791
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Vi... ORPHA:2556
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc coloboma, Optic disc hypoplasia, Chorioretinal coloboma ORPHA:959
Premature Aging Syndrome, Penttinen Type
Microphthalmia, Hypermyelinated retinal nerve fibers OMIM:601812
Cat Eye Syndrome
Microphthalmia, Chorioretinal coloboma OMIM:115470
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Monosomy 9Q22.3
Microphthalmia, Retinopathy ORPHA:77301
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia, Chorioretinal coloboma ORPHA:2092
Hallermann-Streiff Syndrome
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma OMIM:234100
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Optic... ORPHA:191
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Holoprosencephaly
Anophthalmia, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Retinopathy ORPHA:2162
2Q31.1 Microdeletion Syndrome
Microphthalmia, Optic disc coloboma ORPHA:251014
Trisomy 18
Microphthalmia, Abnormality of retinal pigmentation ORPHA:3380
Parenteral Nutrition-Associated Cholestasis
Abnormal metabolism ORPHA:567983
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Rod-cone dystrophy OMIM:223370
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Phace Syndrome
Microphthalmia, Retinal vascular malformation, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Meckel Syndrome
Anophthalmia, Abnormal chorioretinal morphology, Optic atrophy, Aplasia/Hypoplasia of the iris, M... ORPHA:564
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Pigmentary retinopathy OMIM:309801
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Abnormal optic disc morphology, Retinal coloboma, Optic nerve hypoplasia ORPHA:508498
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Frontorhiny
Microphthalmia ORPHA:391474
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Histiocytoid Cardiomyopathy
Microphthalmia, Optic atrophy, Congenital aphakia ORPHA:137675
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Developmental And Epileptic Encephalopathy 50
Abnormal glycosylation OMIM:616457
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Papilledema, Bilateral microphthalmos ORPHA:93325
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Trichothiodystrophy
Macular degeneration, Bilateral microphthalmos, Retinal degeneration ORPHA:33364
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Optic atrophy, Pigmentary retinopathy OMIM:133540
Fryns Syndrome
Microphthalmia ORPHA:2059
Meckel Syndrome 14
Microphthalmia OMIM:619879
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Retinoblastoma, Chorioretinal coloboma OMIM:613884
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Fanconi-Bickel Syndrome
Impairment of galactose metabolism OMIM:227810
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Microphthalmia With Limb Anomalies
Microphthalmia, Optic atrophy, True anophthalmia ORPHA:1106
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Isolated Arrhinia
Microphthalmia ORPHA:1134
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:141099
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Optic atrophy OMIM:616975
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Cousin Syndrome
Microphthalmia OMIM:260660
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Phthisis bulbi, Microp... OMIM:300166
Monosomy 13Q14
Microphthalmia, Retinoblastoma ORPHA:1587
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Bilateral microphthalmos, Optic nerve hypoplasia, Attenuation of retinal blood... ORPHA:468631
Teebi-Shaltout Syndrome