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
abnormal retinal vasculature morphology Adsltm1b(KOMP)Wtsi HET Early adult 7.98×10-06
preweaning lethality, complete penetrance Adsltm1b(KOMP)Wtsi HOM   Early adult 0.00
microphthalmia Adsltm1b(KOMP)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

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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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

1 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 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
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Congenital Disorder Of Glycosylation, Type Icc
Type I transferrin isoform profile OMIM:301031
Fructose And Galactose Intolerance
Fructose intolerance, Galactose intolerance OMIM:229500
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Essential Fructosuria
Impairment of fructose metabolism ORPHA:2056
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia, Chorioretinal coloboma OMIM:616428
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Microphthalmia, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreou... OMIM:305390
Carpal Tunnel Syndrome
Reduced circulating vitamin B6 level OMIM:115430
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Microphthalmia, Chorioretinal coloboma, Bilateral microphthalmos OMIM:611638
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... ORPHA:83461
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Low levels of vitamin A OMIM:115300
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Retinal detachment OMIM:212550
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia OMIM:613517
Foveal Hypoplasia 2
Optic nerve misrouting, Microphthalmia, Hypoplasia of the fovea, Foveal hyperpigmentation OMIM:609218
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Microphthalmia, Retinal degeneration, Cystoid macular degeneration OMIM:267760
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Microphthalm... ORPHA:891
Gombo Syndrome
Microphthalmia OMIM:233270
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Abnormal glycosylation OMIM:615596
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia, Isolated 5
Foveoschisis, Microphthalmia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina,... OMIM:611040
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Microphthalmia, Retinal fold, Subretinal fluid ORPHA:209956
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Microphthalmia, Retinal dys... OMIM:251270
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Microphthalmia, Retinopathy OMIM:616171
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia, Microphthalmia OMIM:615113
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Tyrosinemia Type 2
Abnormality of amino acid metabolism ORPHA:28378
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Pernicious Anemia
Malabsorption of Vitamin B12 OMIM:170900
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microphthalmia, Chorioretinal coloboma ORPHA:231736
Norrie Disease
Optic atrophy, Retinal fold, Microphthalmia, Retinal dysplasia, Hypoplasia of the iris, Retinal d... OMIM:310600
Vitreoretinochoroidopathy
Microphthalmia, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhag... OMIM:193220
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Retinal Venous Beading
Retinal neovascularization, Abnormal distribution of retinal arterioles and venules, Retinal infa... OMIM:180080
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Microphthalmia, Chorioretinal coloboma ORPHA:1473
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Abnormality of amino acid metabolism ORPHA:220295
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Retinal dysplasia ORPHA:324416
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of amino acid metabolism, Low levels of vitamin E ORPHA:309854
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia OMIM:274270
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Mmep Syndrome
Microphthalmia ORPHA:3434
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Classic Homocystinuria
Abnormality of amino acid metabolism ORPHA:394
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Galactose Epimerase Deficiency
Impairment of galactose metabolism ORPHA:79238
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1466
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Galactose Mutarotase Deficiency
Impairment of galactose metabolism ORPHA:570422
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Microphthalmia, Morning glory anomaly, Optic disc coloboma, Remnants of t... OMIM:120200
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Congenital Disorder Of Glycosylation, Type Iiq
Abnormal glycosylation OMIM:617395
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:195
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Abnormal glycosylation OMIM:611588
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia OMIM:615665
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Congenital Disorder Of Glycosylation, Type Ix
Abnormal glycosylation OMIM:615597
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachme... ORPHA:2788
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Warburg Micro Syndrome 4
Optic atrophy, Microphthalmia OMIM:615663
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Microphthalmia ORPHA:858
Papillorenal Syndrome
Microphthalmia, Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Optic disc co... OMIM:120330
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Microphthalmia, Chorioretinal dysplasia, Chorioretinal lacunae, Reti... OMIM:152950
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:1777
Nance-Horan Syndrome
Retinal detachment, Microphthalmia ORPHA:627
Warburg Micro Syndrome 1
Optic atrophy, Microphthalmia OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Microphthalmia OMIM:613153
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Adams-Oliver Syndrome 2
Optic atrophy, Microphthalmia OMIM:614219
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Macular hypoplasia, Bilateral microph... ORPHA:2334
Warburg Micro Syndrome 3
Optic atrophy, Microphthalmia OMIM:614222
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:290
Pierpont Syndrome
Microphthalmia ORPHA:487825
Microphthalmia, Syndromic 5
Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Microphthalmia OMIM:610125
Spondylo-Ocular Syndrome
Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Aspartylglucosaminuria
Abnormality of amino acid metabolism ORPHA:93
Pierpont Syndrome
Microphthalmia OMIM:602342
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Retinal dystrophy, Microphthalmia, Chorioretinal coloboma ORPHA:139471
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Retinal fold, Tractional retinal detachment, Microphthalmia, Glial remnants anterior... ORPHA:91495
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Congenital aphakia, Microphthalmia, Aniridia OMIM:610256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia, Retinal degeneration OMIM:615249
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Microphthalmia OMIM:615145
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Oculoauricular Syndrome
Chorioretinal coloboma, Microphthalmia, Morning glory anomaly, Retinal coloboma, Microphakia, Pht... OMIM:612109
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos, Chorioretinal coloboma OMIM:600122
Stt3A-Cdg
Abnormal glycosylation ORPHA:370921
Congenital Disorder Of Glycosylation, Type Iio
Abnormal glycosylation OMIM:616828
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Walker-Warburg Syndrome
Abnormality of the optic nerve, Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, R... ORPHA:899
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Trisomy 13
Optic atrophy, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal retinal vas... ORPHA:3378
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Microphthalmia, Retinal fold, Phthisis bulbi, Remnants of the... OMIM:221900
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Morgagni-Stewart-Morel Syndrome
Abnormal metabolism ORPHA:77296
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma OMIM:169550
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Joubert Syndrome 14
Microphthalmia, Morning glory anomaly OMIM:614424
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Spondyloepiphyseal Dysplasia, Nishimura Type
Retinal detachment, Microphthalmia, Hypopigmentation of the fundus ORPHA:163649
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Otodental Syndrome
Lens coloboma, Microphthalmia, Retinal coloboma ORPHA:2791
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Refsum Disease
Abnormality of retinal pigmentation, Microphthalmia, Retinopathy ORPHA:773
Seckel Syndrome 2
Microphthalmia OMIM:606744
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Optic atrophy ORPHA:370959
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Stt3B-Cdg
Abnormal glycosylation ORPHA:370924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Retinal dystrophy, Buphthalmos, Microphthalmia OMIM:616538
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma ORPHA:1553
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma ORPHA:2328
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Baraitser-Winter Syndrome 1
Microphthalmia, Chorioretinal coloboma OMIM:243310
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Microphthalmia, Chorioretinal coloboma ORPHA:494344
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Abnormality of retinal pigmentation, Microphthalmia, Retinal thinning, Cone/cone... ORPHA:85167
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Retinal coloboma ORPHA:2510
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Microphthalmia, Pigmentary retinopathy OMIM:610651
Rodrigues Blindness
Microphthalmia OMIM:268320
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Phace Association
Optic atrophy, Optic nerve hypoplasia, Microphthalmia, Increased retinal vascularity OMIM:606519
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Monosomy 18P
Microphthalmia ORPHA:1598
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Joubert Syndrome 37
Microphthalmia OMIM:619185
Cat Eye Syndrome
Microphthalmia, Chorioretinal coloboma OMIM:115470
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Slc35A2-Cdg
Abnormal glycosylation, Decreased sialylation of O-linked protein glycosylation, Decreased galact... ORPHA:356961
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microphthalmia OMIM:234050
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Retinopathy ORPHA:2505
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Remnants of the hy... OMIM:614643
Ritscher-Schinzel Syndrome 3
Microphthalmia, Chorioretinal coloboma OMIM:619135
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Warburg Micro Syndrome 2
Optic atrophy, Microphthalmia OMIM:614225
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Oculofaciocardiodental Syndrome
Retinal detachment, Microphthalmia ORPHA:2712
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Retinal coloboma OMIM:618571
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Microphthalmia ORPHA:2714
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Retinal neovascularization, Macular edema, Retinal cotton w... ORPHA:247691
Moebius Syndrome
Microphthalmia OMIM:157900
Incontinentia Pigmenti
Optic atrophy, Microphthalmia, Hypoplasia of the fovea, Retinal vascular proliferation, Retinal d... OMIM:308300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Microphthalmia, Syndromic 3
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:206900
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Buphthalmos, Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, Retinal de... OMIM:236670
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma OMIM:244300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal detachment, Microphthalmia, Retinal dysplasia OMIM:253800
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Joubert Syndrome 2
Retinal dystrophy, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma OMIM:608091
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Optic atrophy, Microphthalmi... ORPHA:2526
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Osteoporosis-Pseudoglioma Syndrome
Vitreoretinopathy, Phthisis bulbi, Microphthalmia OMIM:259770
Microphthalmia, Lenz Type
Microphthalmia, Chorioretinal coloboma, Optic disc coloboma ORPHA:568
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia OMIM:600123
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Developmental And Epileptic Encephalopathy 50
Abnormal glycosylation OMIM:616457
Marden-Walker Syndrome
Microphthalmia OMIM:248700
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema, Microphthalmia OMIM:127000
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia OMIM:618727
Steinfeld Syndrome
Microphthalmia, Retinal coloboma OMIM:184705
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Cohen Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Microphthalmia ORPHA:193
Fanconi-Bickel Syndrome
Impairment of galactose metabolism OMIM:227810
Aicardi Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal coloboma, Microphthalmia, Optic... ORPHA:50
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Congenital Bile Acid Synthesis Defect Type 3
Abnormality of vitamin metabolism ORPHA:79302
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia, Retinal vascular tortuosity OMIM:243605
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Incontinentia Pigmenti
Microphthalmia, Retinal vascular proliferation, Retinal detachment, Abnormal chorioretinal morpho... ORPHA:464
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Buphthalmos, Retinal degeneration, Microphthalmia, Retinal dysplasia, Hypoplasia o... OMIM:253280
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris OMIM:613001
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia, Retinal coloboma OMIM:607323
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Vacterl With Hydrocephalus
Anophthalmia, Abnormality of the optic nerve, Microphthalmia ORPHA:3412
Parenteral Nutrition-Associated Cholestasis
Abnormal metabolism ORPHA:567983
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Retinal coloboma ORPHA:2839
Jacobsen Syndrome
Macular hypoplasia, Microphthalmia, Chorioretinal coloboma, Optic atrophy OMIM:147791
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma ORPHA:959
Galloway-Mowat Syndrome 1
Optic atrophy, Microphthalmia, Hypoplasia of the iris OMIM:251300
Aicardi Syndrome
Optic atrophy, Microphthalmia, Chorioretinal lacunae, Optic disc coloboma, Retinal detachment OMIM:304050
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Rod-cone dystrophy OMIM:223370
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Mycophenolate Mofetil Embryopathy
Microphthalmia, Chorioretinal coloboma ORPHA:268249
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Microphthalmia OMIM:201180
Cockayne Syndrome Type 3
Optic disc pallor, Retinal degeneration, Microphthalmia, Retinal dystrophy, Retinal atrophy, Reti... ORPHA:90324
Holoprosencephaly
Optic atrophy, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Retinopathy ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Frontorhiny
Microphthalmia ORPHA:391474
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal dys... ORPHA:2556
Focal Dermal Hypoplasia
Microphthalmia, Chorioretinal coloboma, Hypoplasia of the iris ORPHA:2092
Chylomicron Retention Disease
Abnormality of vitamin metabolism ORPHA:71
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Trisomy 18
Abnormality of retinal pigmentation, Microphthalmia ORPHA:3380
Hallermann-Streiff Syndrome
Microphthalmia, Chorioretinal coloboma, Optic disc coloboma OMIM:234100
Cockayne Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal degeneration, Micr... ORPHA:191
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
2Q31.1 Microdeletion Syndrome
Microphthalmia, Optic disc coloboma ORPHA:251014
Isolated Arrhinia
Microphthalmia ORPHA:1134
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Pigmentary retinopathy OMIM:309801
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Microphthalmia, Retinal vascular malformation ORPHA:42775
Meckel Syndrome
Optic atrophy, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal chorioretin... ORPHA:564
Monosomy 9Q22.3
Microphthalmia, Retinopathy ORPHA:77301
Cousin Syndrome
Microphthalmia OMIM:260660
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Abnormality of the optic disc, Microphthalmia, Retinal coloboma ORPHA:508498
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Primary Intestinal Lymphangiectasia
Abnormality of vitamin metabolism, Low levels of vitamin D ORPHA:90362
Secondary Short Bowel Syndrome
Abnormality of vitamin metabolism ORPHA:95427
Fryns Syndrome
Microphthalmia ORPHA:2059
Cockayne Syndrome B
Optic atrophy, Microphthalmia, Hypoplasia of the iris, Pigmentary retinopathy OMIM:133540
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Histiocytoid Cardiomyopathy
Optic atrophy, Microphthalmia, Congenital aphakia ORPHA:137675
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Trichothiodystrophy
Bilateral microphthalmos, Retinal degeneration, Macular degeneration ORPHA:33364
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Norrie Disease
Optic atrophy, Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Abnormal r... ORPHA:649
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Microphthalmia OMIM:616975
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Fanconi-Bickel Syndrome
Galactose intolerance ORPHA:2088
Craniofacial Microsomia
Anophthalmia, Microphthalmia OMIM:164210
Proboscis Lateralis
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma ORPHA:141099
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610829
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Optic disc pallor, Bilateral microphthalmos, Attenuation of retinal blood... ORPHA:468631
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Papilledema, Bilateral microphthalmos ORPHA:93325
Monosomy 13Q14
Microphthalmia, Retinoblastoma ORPHA:1587
Basal Cell Nevus Syndrome
Microphthalmia OMIM:109400
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia, Phthisis bulbi, Retinal detachment, Remnants of the hyaloid vascula... OMIM:300166
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Microphthalmia With Limb Anomalies
True anophthalmia, Optic atrophy, Microphthalmia ORPHA:1106
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Chorioretinal dysplasia, Microphthalmia ORPHA:534
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia ORPHA:2538
22Q11.2 Deletion Syndrome
Optic atrophy, Retinal arteriolar tortuosity, Microphthalmia ORPHA:567
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal arteriolar tortuosity, Microphthalmia, Hypoplasia of the iris, Peripapillary atrophy, Hyp... OMIM:175780
Charge Syndrome
Anophthalmia, Optic atrophy, Microphthalmia, Chorioretinal coloboma ORPHA:138
Fanconi Anemia
Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:84
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Focal Dermal Hypoplasia
Optic atrophy, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Aniridia OMIM:305600
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Holoprosencephaly 2
Microphthalmia OMIM:157170
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Mend Syndrome
Microphthalmia ORPHA:401973
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Monosomy 9P
Microphthalmia ORPHA:261112
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Myhre Syndrome
Microphthalmia OMIM:139210
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Roberts Syndrome
Microphthalmia ORPHA:3103
Degcags Syndrome
Microphthalmia OMIM:619488
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Witteveen-Kolk Syndrome
Microphthalmia OMIM:613406
Fryns Syndrome
Microphthalmia OMIM:229850
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Lens coloboma, Microphthalmia, Hypoplasia of the fovea OMIM:619539
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Holoprosencephaly 7
Bilateral microphthalmos OMIM:610828
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Charge Syndrome
Anophthalmia, Unilateral microphthalmos, Microphthalmia, Retinal coloboma OMIM:214800
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia, Retinal coloboma OMIM:113620
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Microphthalmia, Syndromic 6
Anophthalmia, Retinal dystrophy, Microphthalmia OMIM:607932
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Townes-Brocks Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:857
Mowat-Wilson Syndrome
Microphthalmia, Chorioretinal coloboma OMIM:235730
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Fructose Intolerance, Hereditary
Fructose intolerance OMIM:229600
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormality of vitamin metabolism, Low levels of vitamin D ORPHA:79408
Holoprosencephaly 1
Microphthalmia OMIM:236100
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Retinal coloboma ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation