Gene Summary

Name:
pygopus 2
Synonyms:
1190004M21Rik,  mpygo2

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
hemorrhage Pygo2tm1b(EUCOMM)Wtsi HOM E15.5 0.00
abnormal uterus morphology Pygo2tm1b(EUCOMM)Wtsi HET Early adult 0.00
microphthalmia Pygo2tm1b(EUCOMM)Wtsi HOM E15.5 0.00
abnormal kidney morphology Pygo2tm1b(EUCOMM)Wtsi HET Early adult 0.00
abnormal midbrain morphology Pygo2tm1b(EUCOMM)Wtsi HOM E12.5 0.00
anophthalmia Pygo2tm1b(EUCOMM)Wtsi HOM E15.5 0.00
persistence of hyaloid vascular system Pygo2tm1b(EUCOMM)Wtsi HET Early adult 3.16×10-05
edema Pygo2tm1b(EUCOMM)Wtsi HOM E15.5 0.00
hydrometra Pygo2tm1b(EUCOMM)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Pygo2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal limb morphology Pygo2tm1b(EUCOMM)Wtsi HOM E15.5 0.00
abnormal hindbrain morphology Pygo2tm1b(EUCOMM)Wtsi HOM E12.5 0.00
hyperactivity Pygo2tm1b(EUCOMM)Wtsi HET   Early adult 4.29×10-06
abnormal eye morphology Pygo2tm1b(EUCOMM)Wtsi HOM E12.5 0.00
abnormal neural tube closure Pygo2tm1b(EUCOMM)Wtsi HOM E12.5 0.00
abnormal craniofacial morphology Pygo2tm1b(EUCOMM)Wtsi HOM E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Duodenum N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
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)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head 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)
Liver 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)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity 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)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 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)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

Associated Images

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

Adult LacZ

LacZ Images Section

145 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Gross Morphology Embryo E14.5-E15.5

Images

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Pygo2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Pygo2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oculoauricular Syndrome
Coloboma, Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcor... OMIM:612109
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Microphthalmia OMIM:615771
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea, Microphthalmia, Coloboma OMIM:251505
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation ORPHA:171844
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment, Microspherophakia, Lens subluxation, Lens coloboma OMIM:157151
Microspherophakia With Hernia
Superior lens subluxation, Microspherophakia, Retinal detachment OMIM:157150
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Mental Retardation, Autosomal Dominant 52
Cryptorchidism, Hyperactivity OMIM:617796
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Anal atresia, Aplasia/Hypoplasia of the lens ORPHA:1381
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Bilateral microphthalmos, Anophthalmia OMIM:611638
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Median cleft palate, Microcornea, Microphthalmia, Recurrent respiratory infections ORPHA:2432
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cataract, Microcornea, Microphthalmia, Optic atrophy, Retinopathy, Optic disc pa... OMIM:616171
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Epicanthus, Cataract, Microcornea, Microphthalmia, High palate ORPHA:2528
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Bilateral cleft li... ORPHA:1473
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea, High palate OMIM:251750
Spondylo-Ocular Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Cataract, Microphthalmia, Retinal detachment,... ORPHA:85194
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microphthalm... OMIM:212550
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Foveal Hypoplasia 2
Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve misrouting, Microp... OMIM:609218
Gombo Syndrome
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Fryns Microphthalmia Syndrome
Neural tube defect, Microphthalmia, Anophthalmia OMIM:600776
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Retinal dysplasia, Ocular anterior segment dysgenesis, Micropht... ORPHA:324416
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Cataract, Ptosis, Microphthalmia, Cleft palate OMIM:120433
Immunodeficiency 8
Hyperactivity OMIM:615401
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Edema, Microphthalmia, Rocker bottom foot OMIM:616570
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... OMIM:610256
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Abnormal foveal morpho... OMIM:611040
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Cataract, Microp... OMIM:251270
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Narrow palpebral fissure, Bilateral microphthalmos OMIM:608763
Idiopathic Uveal Effusion Syndrome
Retinal fold, Subretinal fluid, Microphthalmia, Abnormal anterior eye segment morphology, Exudati... ORPHA:209956
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t... OMIM:310600
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Broad nasal tip, Upslanted palpebra... OMIM:152950
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Coloboma, Cataract, Microphthalmia, Cleft palate, Downslanted palpeb... ORPHA:1617
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Microphthalmia OMIM:613517
Cofs Syndrome
Abnormality of retinal pigmentation, Death in infancy, Wide nasal bridge, Cataract, Microphthalmi... ORPHA:1466
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Ectopia lentis, Microspherophakia OMIM:614819
Nanophthalmos 4
Microphthalmia OMIM:615972
Nail-Patella Syndrome
Keratoconus, Spina bifida, Microphakia, Cataract, Ptosis, Microcornea, Cleft palate, Antecubital ... OMIM:161200
Nasopalpebral Lipoma-Coloboma Syndrome
Lacrimal punctal atresia, Sparse eyebrow, Coloboma, Recurrent upper respiratory tract infections,... ORPHA:2399
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Kniest Dysplasia
Laryngotracheomalacia, Lens luxation, Lattice retinal degeneration, Degenerative vitreoretinopath... ORPHA:485
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Retinal coloboma, Cataract, Microphthalmia, Rod-cone dystrophy OMIM:601794
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Autosomal Dominant Keratitis
Aniridia, Coloboma, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcorne... ORPHA:2334
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Microphthalmia, Anophthalmia, Talipes equinovarus OMIM:613885
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Retinal degeneration, Mi... OMIM:267760
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Frontofacionasal Dysplasia
Brushfield spots, Short nose, Blepharophimosis, Upper eyelid coloboma, Iris coloboma, Choanal atr... ORPHA:1791
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma, Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia OMIM:610023
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Microphthalmia, Syndromic 13
Ptosis, Microcornea, Microphthalmia, Coloboma OMIM:300915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Corneal opacity, Cataract, Death in childhood, Microphthalmia, Retinal detachment, Hydr... OMIM:613153
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Joubert Syndrome 22
Postaxial hand polydactyly, 2-3 toe syndactyly, Agenesis of cerebellar vermis, Microphthalmia, Po... OMIM:615665
Cat-Eye Syndrome
Chorioretinal coloboma, Iris coloboma, Anal atresia, Microphthalmia, Downslanted palpebral fissures ORPHA:195
Warburg Micro Syndrome 1
Developmental cataract, Facial hypertrichosis, Wide nasal bridge, Ptosis, Microcornea, Hypertrich... OMIM:600118
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Epicanthus, Cataract, Ptosis, Microcornea, Microphthalmia, Abnormalit... ORPHA:35173
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Microphthalmia, Hydrocephalus OMIM:614830
Adams-Oliver Syndrome 2
Low anterior hairline, Developmental cataract, Bulbous nose, Narrow palpebral fissure, Microphtha... OMIM:614219
Cerebrooculofacioskeletal Syndrome 1
Blepharophimosis, Hirsutism, Cataract, Death in childhood, Microphthalmia, Prominent nasal bridge OMIM:214150
Otodental Syndrome
Retinal coloboma, Iris coloboma, Lens coloboma, Cataract, Microcornea, Microphthalmia, Anteverted... ORPHA:2791
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Iris coloboma, Ocular anterior segment dysgenesis, Ptosis, Microcornea,... OMIM:615145
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal ... ORPHA:1067
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Cleft palate, ... ORPHA:90654
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Bulbous nose, Short nose, Epicanthus, Cataract, Microphthalmia, Downslanted palpebral fissures, H... OMIM:614105
Frontonasal Dysplasia 1
Coloboma, Widow's peak, Hypoplastic frontal sinuses, Epicanthus, Wide nasal bridge, Cataract, Med... OMIM:136760
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal ero... OMIM:217800
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Meckel Syndrome, Type 4
Postaxial hand polydactyly, Bowing of the long bones, Anencephaly, Agenesis of cerebellar vermis,... OMIM:611134
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Microphthalmia, Syndromic 8
Blepharophimosis, Short palpebral fissure, Microcornea, Microphthalmia, Cleft palate OMIM:601349
Oculocerebrocutaneous Syndrome
Microphthalmia, Dandy-Walker malformation, Anophthalmia OMIM:164180
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy, Microphthalmia ORPHA:363741
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia, Retinal detachment, Prominent nasal bridge, Prominent nose ORPHA:627
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:269400
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Epicanthus, Long eyelashes, Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sc... OMIM:615877
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Optic nerve hypoplasia, Microphthal... OMIM:615181
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Stromme Syndrome
Stillbirth, Iris coloboma, Intestinal malrotation, Jejunal atresia, Wide nasal bridge, Cataract, ... OMIM:243605
Joubert Syndrome 36
Mesoaxial hand polydactyly, Molar tooth sign on MRI OMIM:618763
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Joubert Syndrome 10
Molar tooth sign on MRI, Postaxial polydactyly, Cerebellar vermis hypoplasia OMIM:300804
Hydrolethalus
Polyhydramnios, Postaxial hand polydactyly, Arrhinencephaly, Anencephaly, Microphthalmia, Anophth... ORPHA:2189
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Sex reversal, Hypoplasia of the ut... OMIM:612965
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Pierpont Syndrome
Short nose, Blepharophimosis, Unilateral narrow palpebral fissure, High anterior hairline, Narrow... OMIM:602342
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Coloboma, Uraciluria, Hyperactivity, Optic atrophy OMIM:274270
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus, Horseshoe kidney, Multicystic kidney dysplasia, Vesicoureteral reflux,... OMIM:617805
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microcornea, Microphthalmia, ... ORPHA:139471
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Anophthalmia ORPHA:411986
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Sparse hair, Death in infancy, Cataract, Death in childhood, Microphthalmia OMIM:610756
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Iris coloboma, Ectopia lentis, Intestinal malrotation, Peripheral pulmonar... ORPHA:2712
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Cataract, Microcornea, Long eyelashes ORPHA:48431
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Nasopalpebral Lipoma-Coloboma Syndrome
Widow's peak, Upper eyelid coloboma, Lower eyelid coloboma, Ectopic lacrimal punctum, Wide nasal ... OMIM:167730
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Trisomy 1Q
Polyhydramnios, Camptodactyly of finger, Preaxial hand polydactyly, Toe syndactyly, Hydrops fetal... ORPHA:261344
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Cataract, Optic atrophy, Hydrocephalus OMIM:613154
Bartsocas-Papas Syndrome 2
Axillary pterygium, Ankyloblepharon, Corneal opacity, Bilateral cleft lip and palate, Microphthal... OMIM:619339
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, M... ORPHA:290
Anophthalmia Plus Syndrome
Spina bifida, Deviation of finger, Anophthalmia ORPHA:1104
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Recurrent respiratory infections, Narrow nasal bridge, Cataract, Keratoconjunctiviti... ORPHA:1806
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the larynx, Iris coloboma, Cataract, Anal atresia, Septo-optic dysplasia, Micropht... ORPHA:3301
Papillorenal Syndrome
Lens luxation, Retinal coloboma, Orbital cyst, Chorioretinal atrophy, Morning glory anomaly, Cata... OMIM:120330
Warburg Micro Syndrome 3
Low anterior hairline, Developmental cataract, Shallow anterior chamber, Narrow palate, Short nos... OMIM:614222
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Vanishing testis, Abnormal internal genitalia, Gonadal dysgenesis with ... OMIM:273250
Trisomy 13
Postaxial hand polydactyly, Hydrops fetalis, Arnold-Chiari malformation, Aplasia/Hypoplasia of th... ORPHA:3378
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Trichothiodystrophy 4, Nonphotosensitive
Sparse hair, Short nose, Epicanthus, Keratoconjunctivitis sicca, Microcornea, Brittle hair, Micro... OMIM:234050
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia ORPHA:1574
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Aniridia, Abnormality of the uterus, Renal insufficiency, Abnormal vagina morphol... OMIM:194072
Temtamy Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia, Telecanthus ORPHA:1777
Bresek Syndrome
Iris coloboma, Aganglionic megacolon, Neonatal death, Optic nerve hypoplasia, Microphthalmia, Alo... ORPHA:85284
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Pierpont Syndrome
High anterior hairline, Narrow palpebral fissure, Microcornea, Microphthalmia, Telecanthus ORPHA:487825
Craniotelencephalic Dysplasia
Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microphthalmia, Hydrocephalus ORPHA:1528
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Blepharophimosis, Dysphagia, Gastroesophageal reflux, Iris coloboma, Epic... ORPHA:494344
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Hydr... ORPHA:1532
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI, Postaxial polydactyly, Hypertrophic card... OMIM:617757
Hydrolethalus Syndrome 2
Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Molar tooth sign on MRI, Hydrocephalus OMIM:614120
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Aplas... OMIM:158330
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:609583
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Epicanthus, Hypopigmentation of the fundus, Cataract, Long palpebral fissure, Microph... ORPHA:163649
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology ORPHA:280195
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Al-Gazali-Bakalinova Syndrome
Lymphedema, Genu valgum, Clinodactyly, Molar tooth sign on MRI OMIM:607131
Walker-Warburg Syndrome
Chorioretinal dysplasia, Iris coloboma, Corneal opacity, Retinal dystrophy, Abnormality of the op... ORPHA:899
Weill-Marchesani Syndrome 1
Shallow anterior chamber, Narrow palate, Ectopia lentis, Microspherophakia, Cataract, Shallow orb... OMIM:277600
Craniotelencephalic Dysplasia
Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia, Cerebellar hypoplasia OMIM:218670
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus, Hypertension OMIM:619111
Microphthalmia, Syndromic 5
Coloboma, Retinal dystrophy, Cataract, Cleft palate, Microcornea, Optic nerve hypoplasia, Microph... OMIM:610125
Joubert Syndrome 30
Postaxial hand polydactyly, Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformatio... OMIM:617622
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Bulbous nose, Horizontal eyebrow, Short nose, Retinal coloboma, Narrow palpebral fissure, Epicant... OMIM:618571
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Postaxial hand polydactyly, ... OMIM:608091
Frontofacionasal Dysplasia
Bifid nose, Blepharophimosis, Underdeveloped nasal alae, Short nose, Midline defect of the nose, ... OMIM:229400
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Cerebellar cyst, Olivopontocerebellar hypoplasia, Cerebellar hypopla... ORPHA:370959
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory a... OMIM:120200
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Corneal opacity, Microphthalmia,... ORPHA:2788
Cat Eye Syndrome
Chorioretinal coloboma, Intestinal malrotation, Iris coloboma, Anal atresia, Microphthalmia, Clef... OMIM:115470
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas... OMIM:221900
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia, Hydrocephalus ORPHA:141333
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
3Q29 Microduplication Syndrome
Aniridia, Iris coloboma, Wide nasal bridge, Cataract, Ectopic anus, Microphthalmia, Sclerocornea,... ORPHA:251038
Rodrigues Blindness
Sparse hair, Microcornea, Microphthalmia, Sclerocornea, Fine hair, Narrow nasal bridge OMIM:268320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Retinal degeneration, Cataract, Microphthalmia, Abnormally large globe, Hydrocephalus OMIM:615249
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Developmental cataract, Sparse medial eyebrow, Laterally extended eyebrow,... OMIM:618804
Hyperprolinemia, Type I
Hydroxyprolinuria, Ataxia, Hyperglycinuria, Prolinuria, Hyperactivity OMIM:239500
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Weill-Marchesani Syndrome 2
Shallow anterior chamber, Narrow palate, Lens luxation, Ectopia lentis, Microspherophakia, Umbili... OMIM:608328
Congenital Tufting Enteropathy
Corneal erosion, Optic disc coloboma, Villous atrophy, Abnormal small intestinal mucosa morpholog... ORPHA:92050
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Peripheral vitreous opacities,... OMIM:305390
Congenital Bile Acid Synthesis Defect Type 4
Iris hypopigmentation, Fat malabsorption, Epicanthus ORPHA:79095
Hartsfield Syndrome
Ptosis, Microphthalmia, Lobar holoprosencephaly, Cleft palate, Downslanted palpebral fissures, Te... ORPHA:2117
Fibular Hemimelia
Bowing of the legs, Anophthalmia, Abnormality of fibula morphology, Proximal femoral focal defici... ORPHA:93323
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Unilateral microphthalmos, Unilateral ptosis, Hirsutism, Bilateral microphthalmos, Lary... OMIM:619318
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Warburg Micro Syndrome 4
Low anterior hairline, Developmental cataract, Hirsutism, Ptosis, Microcornea, Microphthalmia, Pr... OMIM:615663
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased t... OMIM:614837
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Iris coloboma, Esophageal atresia, Microphthalmia, Sclerocornea, Anophthalmia,... ORPHA:77298
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Joubert Syndrome 14
Highly arched eyebrow, Coloboma, Epicanthus, Morning glory anomaly, Ptosis, Microphthalmia, Downs... OMIM:614424
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadoblastoma, Hypoplasia of the uterus, Streak o... ORPHA:168563
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Peters anomaly, Microphthalmia, Downslanted palpebral fissures, Cleft soft pa... OMIM:614526
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Cerebellar vermis hypopla... OMIM:277170
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Vacterl With Hydrocephalus
Polyhydramnios, Hypoplasia of the radius, Spina bifida, Arrhinencephaly, Aqueductal stenosis, Mic... ORPHA:3412
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Xk Aprosencephaly Syndrome
Polyhydramnios, Abnormal morphology of the radius, Microphthalmia ORPHA:3469
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:612964
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia, Wide nasal bridge ORPHA:93267
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea, Laryngeal web, Microphthalmia, Pulmonary edema... ORPHA:137675
Jacobsen Syndrome
Chorioretinal coloboma, Short nose, Holoprosencephaly, Abnormal eyelash morphology, Pyloric steno... OMIM:147791
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Highly arched eyebrow, Short nose, Iris coloboma, Epicanthus, Wide nasal ... OMIM:243310
Warburg Micro Syndrome 2
Low anterior hairline, Developmental cataract, Short nose, Cataract, Microcornea, Microphthalmia,... OMIM:614225
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Blepharophimosis, Underdeveloped nasal alae, Epicanthus, Corneal opacity, ... ORPHA:284160
Orofaciodigital Syndrome Xv
Broad hallux, Molar tooth sign on MRI, Postaxial polydactyly OMIM:617127
Norrie Disease
Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Abnormal vitreous hum... ORPHA:649
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Optically empty vitreous, Retinal dots, Corneal g... OMIM:193230
Skin Creases, Congenital Symmetric Circumferential, 2
Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Microcornea, ... OMIM:616734
Oculodentodigital Dysplasia, Autosomal Recessive
Persistent pupillary membrane, Underdeveloped nasal alae, Epicanthus, Narrow nose, Cataract, Shor... OMIM:257850
Hereditary Mucoepithelial Dysplasia
Sparse hair, Pulmonary fibrosis, Recurrent respiratory infections, Furrowed tongue, Cataract, Alo... ORPHA:1839
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Ectopia lentis, Iris atrophy, Microphthalmia, Downslanted palpebral fissures, Wide nose, Prominen... OMIM:601552
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Blepharophimosis, Wide nasal bridge, Sparse pubic hair, Ptosis, Microcorne... OMIM:110100
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Iris coloboma, Sparse scalp hair, Cataract, Abnormal cornea morp... ORPHA:2611
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Neurooculocardiogenitourinary Syndrome
Coloboma, Epicanthus, Peters anomaly, Microphthalmia, Prominent nasal bridge OMIM:618652
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Multiple Benign Circumferential Skin Creases On Limbs
Epicanthus, Umbilical hernia, Microcornea, Microphthalmia, Cleft palate, Generalized hirsutism, R... ORPHA:2505
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Peripheral pulmonary artery stenosis, Hypoplasia of the iris, Microphthalmia, Alop... OMIM:613001
Skin Creases, Congenital Symmetric Circumferential, 1
Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Hypoplastic nipples, Short palpebral f... OMIM:156610
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Microphthalmia, Spina bifida occulta OMIM:169550
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Gastrointestinal carcinoma, Protein-losing enteropathy, Cataract, Xerost... OMIM:175500
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Microphthalmia, Anophthalmia OMIM:147250
Seckel Syndrome 2
Heart murmur, Clinodactyly of the 5th finger, Cerebellar hypoplasia, Microphthalmia OMIM:606744
Joubert Syndrome 16
Polydactyly, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Coloboma, Long palpebral fissure, Ptosis, Microphthalmia, Telecanthus OMIM:614583
Micro Syndrome
Abnormality of retinal pigmentation, Short nose, Retinal coloboma, Wide nasal bridge, Cataract, M... ORPHA:2510
Hyperlysinemia, Type I
Ectopia lentis, Hyperactivity OMIM:238700
Kapur-Toriello Syndrome
Bulbous nose, Retinal coloboma, Iris coloboma, Intestinal malrotation, Cataract, Microphthalmia, ... OMIM:244300
Congenital Disorder Of Glycosylation, Type Id
Bulbous nose, Villous atrophy, Iris coloboma, Epicanthus, Wide nasal bridge, Bifid uvula, High pa... OMIM:601110
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Ataxia, Hyperactivity OMIM:300983
Generalized Eruptive Keratoacanthoma
Ectropion, Dysphagia, Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology ORPHA:411777
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chorioretinal dysplasia, Leukonychia, Anophthalmia, Wide nose, Abnormality of retinal pigmentatio... ORPHA:2526
Joubert Syndrome 18
Polydactyly, Camptodactyly, Molar tooth sign on MRI OMIM:614815
Microphthalmia-Brain Atrophy Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal pons morphology, Cerebellar vermis atrophy... ORPHA:77299
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Upslanted palpebral fissure, Microphthalmia, Cleft palate, Anteverted nares, D... OMIM:612530
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Umbilical hernia, Lens coloboma OMIM:618914
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Phace Syndrome
Heterochromia iridis, Iris coloboma, Lens coloboma, Cataract, Ptosis, Optic nerve hypoplasia, Mic... ORPHA:42775
Frontorhiny
Midline nasal groove, Widow's peak, Hypoplastic frontal sinuses, Iris coloboma, Epicanthus, Catar... ORPHA:391474
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Cataract, Conjunctivitis, Keratitis, Keratoconjunctivitis sicca, Microphthalmia, Corne... OMIM:278730
Marfan Syndrome
Narrow palate, Emphysema, Pulmonary artery dilatation, Ectopia lentis, Microspherophakia, Hypopla... OMIM:154700
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Epicanthus, Microphthalmia, Downslanted palpebral fissures, Hydrocephalus, Depressed nasal bridge OMIM:602501
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Proteinuria, Septate vagina, Distal renal tubular acidosis, Pseudopapilledema, Proxima... OMIM:146255
Frontonasal Dysplasia 3
Underdeveloped nasal alae, Upper eyelid coloboma, Absent eyebrow, Wide nasal bridge, Microphthalm... OMIM:613456
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Unilateral narrow palpebral fissure, Scarring alopecia of scalp, Wide nasal bridge, Ectopia pupil... OMIM:618727
Refsum Disease
Abnormality of retinal pigmentation, Cataract, Ptosis, Microphthalmia, Retinopathy ORPHA:773
Perrault Syndrome 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:617565
Joubert Syndrome 7
Hypoplasia of the brainstem, Postaxial hand polydactyly, Brainstem dysplasia, Postaxial polydacty... OMIM:611560
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Glycine Encephalopathy
Hyperglycinuria, Lethargy, Hyperactivity OMIM:605899
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly, Absent testis, Vanishing t... ORPHA:325124
Blepharoptosis, Myopia, And Ectopia Lentis
Congenital ptosis, Ectopia lentis, Increased axial length of the globe OMIM:110150
Fanconi Anemia, Complementation Group S
Low anterior hairline, Narrow palate, Sparse hair, Blepharophimosis, Upslanted palpebral fissure,... OMIM:617883
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Cerebellar hypoplasia, Microphthalmia, Reduced systolic function OMIM:618805
Trichothiodystrophy 1, Photosensitive
Sparse hair, Malabsorption, Tiger tail banding, Cataract, Keratoconjunctivitis sicca, Microcornea... OMIM:601675
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Micr... OMIM:603194
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Blepharophimosis, Upslanted palpebral fissure, Ocular albinism, Wide nasal bridge, Anal atresia, ... ORPHA:1352
Nance-Horan Syndrome
Developmental cataract, Posterior Y-sutural cataract, Microcornea, Microphthalmia, Prominent nasa... OMIM:302350
Hallermann-Streiff Syndrome
Chorioretinal coloboma, Spina bifida, Narrow palate, Sparse hair, Underdeveloped nasal alae, Iris... OMIM:234100
Joubert Syndrome 17
Polydactyly, Syndactyly, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614615
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology ORPHA:99852
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Lymphedema, Telangiectasia of the skin, Abnormal brainstem ... ORPHA:79279
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Mannosidosis, Beta A, Lysosomal
Increased urinary disaccharide excretion, Hyperactivity OMIM:248510
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Postaxial polydactyly, Anencephaly OMIM:614175
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Unilateral renal agenesis, Hypoplasia of the vagina, Ectopic kidney, Aplasia of... ORPHA:3109
Joubert Syndrome 20
Syndactyly, Molar tooth sign on MRI, Postaxial polydactyly OMIM:614970
Kapur-Toriello Syndrome
Bulbous nose, Retinal coloboma, Intestinal malrotation, Iris coloboma, Microphthalmia ORPHA:2328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Retinal dystrophy, Cataract, Microphthalmia, Hydrocephalus OMIM:616538
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Alazami-Yuan Syndrome
Cryptorchidism, Hyperactivity OMIM:617126
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Martsolf Syndrome 1
Low anterior hairline, Developmental cataract, Epicanthus, Tracheomalacia, Microphthalmia, Broad ... OMIM:212720
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Peripheral vitreoretinal degeneration, Lens subluxation OMIM:614292
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Fraser Syndrome 1
Underdeveloped nasal alae, Upper eyelid coloboma, Absent eyebrow, Corneal opacity, Malformed lacr... OMIM:219000
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal chondrodysplasia, Rhizomelia, Metaphyseal cupping of metacarpals, Cerebellar hypoplas... ORPHA:163966
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Bilateral cryptorchidism, Aplasia... ORPHA:99429
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Trisomy 18
Spina bifida, Abnormality of retinal pigmentation, Narrow palate, Short nose, Blepharophimosis, C... ORPHA:3380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Retinal atrophy, Coloboma, Corneal opacity, Retinal dysplasia, Cataract, Megalocorne... OMIM:236670
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Polyhydramnios, Camptodactyly of finger, Microphthalmia, Symphalangism affecting the phalanges of... ORPHA:2547
Dubowitz Syndrome
Broad nasal tip, Blepharophimosis, Gastroesophageal reflux, Iris coloboma, Epicanthus, Wide nasal... OMIM:223370
Congenital Toxoplasmosis
Ascites, Microphthalmia, Hydrocephalus ORPHA:858
Slc35A2-Cdg
Camptodactyly of finger, Abnormal midbrain morphology, Aplasia/hypoplasia involving bones of the ... ORPHA:356961
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Monosomy 13Q14
Holoprosencephaly, Retinoblastoma, Abnormality of the gastrointestinal tract, Iris coloboma, Epic... ORPHA:1587
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low anterior hairline, Macroglossia, Bulbous nose, Horizontal eyebrow, Short nose, Upslanted palp... ORPHA:369891
Aniridia 1
Aniridia, Macular agenesis, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Chori... OMIM:106210
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Joubert Syndrome 1
Hypoplasia of the brainstem, Postaxial hand polydactyly, Brainstem dysplasia, Cerebellar vermis h... OMIM:213300
Microphthalmia, Isolated 8
Coloboma, Optic nerve hypoplasia, Microphthalmia, Entropion, Retinal detachment OMIM:615113
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Oculoskeletodental Syndrome
Low anterior hairline, Macroglossia, Developmental cataract, Epicanthus, Protein-losing enteropat... OMIM:618440
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Rothmund-Thomson Syndrome, Type 2
Sparse eyebrow, Sparse hair, Premature graying of hair, Absent eyelashes, Short nose, Narrow palp... OMIM:268400
Pelvis-Shoulder Dysplasia
Spina bifida, Retinal coloboma, Iris coloboma, Bilateral microphthalmos, Facial hirsutism, Hydran... ORPHA:2839
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Chorioretinal coloboma, Cervical spina bifida, Narrow palpebral fissure, Bilateral microphthalmos... OMIM:600122
17Q12 Microduplication Syndrome
Polyhydramnios, Toe syndactyly, Microphthalmia, Finger syndactyly ORPHA:261272
Joubert Syndrome 15
Polydactyly, Molar tooth sign on MRI OMIM:614464
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Preaxial polydactyly, Cerebellar vermis hypoplasia, Postaxial po... OMIM:616546
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, ... OMIM:300863
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased testicular siz... OMIM:614841
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Unilateral renal agenesis, Bicornuate uterus, Ectopic kidney OMIM:601076
Adult Krabbe Disease
Abnormality of the medulla oblongata, Abnormal pons morphology, Abnormal midbrain morphology ORPHA:206448
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Limbal Stem Cell Deficiency
Decreased corneal reflex, Blepharospasm, Generalized opacification of the cornea, Opacification o... ORPHA:171673
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Anal stenosis, Optic disc hypoplasia, Retinal coloboma, Iris col... OMIM:607323
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Malabsorption, Alopecia ORPHA:100025
Monosomy 18P
Holoprosencephaly, Epicanthus, Wide nasal bridge, Ptosis, Microphthalmia, Alopecia, Cleft palate,... ORPHA:1598
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:608629
Joubert Syndrome 21
Hypoplasia of the brainstem, Elongated superior cerebellar peduncle, Anophthalmia OMIM:615636
Acrofrontofacionasal Dysostosis 1
Widow's peak, Long eyelashes, Wide nasal bridge, Ptosis, Iris atrophy, Microphthalmia, Optic atro... OMIM:201180
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Communicating hydrocephalus, Developmental glaucoma, Corneal opacity, Anteverted nares,... ORPHA:1064
Brittle Cornea Syndrome 1
Keratoconus, Decreased corneal thickness, Red hair, Keratoglobus, Epicanthus, Abnormal cornea mor... OMIM:229200
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyebrow, Underdeveloped nasal alae, Widow's peak, Aplasia/Hypoplasia of the frontal sinuse... ORPHA:306542
Diarrhea 2, With Microvillus Atrophy
Villous atrophy, Death in infancy, Abnormal intestine morphology OMIM:251850
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Camptodactyly of finger, Anophthalmia, Umbilical hernia, Tricuspid regurgitation, Ulnar... ORPHA:1101
Incontinentia Pigmenti
Sparse hair, Breast hypoplasia, Coarse hair, Breast aplasia, Hypoplastic nipples, Cataract, Kerat... OMIM:308300
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal calcification, Sparse hair, Cataract, Sparse and thin eyebrow, Microphthalmia, Alopecia,... OMIM:302960
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia, Cleft palate OMIM:257910
Curry-Jones Syndrome
Optic disc coloboma, Intestinal malrotation, Iris coloboma, Microphthalmia, Generalized hirsutism ORPHA:1553
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Low anterior hairline, Highly arched eyebrow, Morphological abnormality of the gastrointestinal t... ORPHA:404440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Persistent pupillary membrane, Macroglossia, Death in infancy, Cataract, Peters anom... OMIM:613150
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Cohen Syndrome
Low anterior hairline, Abnormality of retinal pigmentation, Abnormal eyelid morphology, Thick hai... ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Cataract, Peters anomaly, Optic nerve... OMIM:614643
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Curry-Jones Syndrome
Coloboma, Blepharophimosis, Anal stenosis, Hirsutism, Intestinal malrotation, Microphthalmia OMIM:601707
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria, Cataract, Microphthalmia, Retinal detachment... ORPHA:2714
Oculodentodigital Dysplasia
Thin anteverted nares, Sparse hair, Dry hair, Blepharophimosis, Underdeveloped nasal alae, Epican... OMIM:164200
Premature Ovarian Failure 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:612310
Adams-Oliver Syndrome