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Gene: Prss56 MGI:1916703

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Gene Summary

Name:
serine protease 56
Synonyms:
Prss56,  1700027L20Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
decreased leukocyte cell number Prss56em1(IMPC)J HOM Early adult 4.23×10-05
abnormal coat/hair pigmentation Prss56em2(IMPC)J HOM Early adult 4.20×10-12
abnormal vocalization Prss56em2(IMPC)J HOM Early adult 2.94×10-10

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

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 Forepaw

12 Images

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Sleep Wake

Wake state (bmp file)

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

14 Images

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Human diseases caused by Prss56 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 Prss56 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Ocular hypertension OMIM:613517
Nanophthalmos
Microphthalmia ORPHA:35612

The table below shows human diseases predicted to be associated to Prss56 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio, Ocular hypertension OMIM:603383
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio, Ocular hypertension OMIM:617272
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Ocular hypertension OMIM:613517
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Irvan Syndrome
Retinal detachment, Vitreous floaters, Ocular hypertension, Optic atrophy, Macular edema, Retinal... ORPHA:209943
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Ocular hypertension, Buphthalmos, Microcornea, Anterior ... OMIM:269400
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Iris coloboma, Ocular hypertension OMIM:610023
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma OMIM:616428
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Ocular hypertension OMIM:156600
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Glaucoma 1, Primary Open Angle, C
Ocular hypertension OMIM:601682
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Ocular hypertension, Microcornea, Posterior synechiae of... OMIM:610256
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Iris hypoperfusion, Lens subluxation, Phakodonesi... OMIM:177650
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:611638
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Blue sclerae, Heterochromia iridis ORPHA:66633
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Ocular hypertension, Retinal vascu... ORPHA:94058
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Ocular hypertension OMIM:618880
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Ocular hypertension, Increased axial length of the globe, Microcornea, Iris coloboma OMIM:602499
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma OMIM:120433
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Retinal fold, Subretinal fluid, Abnormal intraocular pressure ORPHA:209956
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Gombo Syndrome
Microphthalmia OMIM:233270
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Weill-Marchesani Syndrome 3
Ocular hypertension, Microspherophakia, Ectopia lentis OMIM:614819
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Nanophthalmos 4
Microphthalmia OMIM:615972
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia, Posterior embryotoxon, Astigmatism OMIM:609218
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma OMIM:300915
Weill-Marchesani Syndrome 4
Iridodonesis, Ocular hypertension, Ectopia lentis, Posterior synechiae of the anterior chamber, P... OMIM:613195
Juvenile Glaucoma
Optic neuropathy, Ocular hypertension, Retinal arterial occlusion, Retinal vein occlusion, Abnorm... ORPHA:98977
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Uveal Melanoma
Iris melanoma, Ocular hypertension, Inferior lens subluxation, Zonular cataract, Ciliary body mel... ORPHA:39044
Nanophthalmos
Microphthalmia ORPHA:35612
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Ocular hypertension, Uveal ectropion, Abnormal Desc... ORPHA:98973
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma ORPHA:1473
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma ORPHA:231736
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Congenital Microcoria
Ocular hypertension, Developmental cataract, Corneal stromal edema, Iris transillumination defect... ORPHA:566
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Ocular hypertensio... ORPHA:67042
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Oculoauricular Syndrome
Cataract, Sclerocornea, Ocular hypertension, Phthisis bulbi, Developmental cataract, Microcornea,... OMIM:612109
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Glaucoma 3, Primary Congenital, A
Buphthalmos, Ocular hypertension OMIM:231300
Anterior Segment Dysgenesis 1
Microcornea, Posterior polar cataract, Opacification of the corneal stroma, Ocular hypertension OMIM:107250
Mevalonic Aciduria
Cataract, Blue sclerae ORPHA:29
Hyperostosis Cranialis Interna
Optic atrophy, Facial palsy, Ocular hypertension OMIM:144755
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Blue sclerae, Decreased corneal thickness, ... OMIM:614170
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Ocular hypertension, Band ker... OMIM:614195
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Blue sclerae, Corneal opacity ORPHA:2788
Cat-Eye Syndrome
Microphthalmia, Iris coloboma ORPHA:195
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Blue sclerae, Developmental cataract OMIM:259410
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma OMIM:212550
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Fuchs Heterochromic Iridocyclitis
Iris atrophy, Cataract, Ocular hypertension, Anisocoria, Posterior synechiae of the anterior cham... ORPHA:263479
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Microphthalmia, Cataract OMIM:616171
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Ocular hypertension, Spherophakia, Anterior synechiae of ... OMIM:601552
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Idiopathic Panuveitis
Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Ocular hyper... ORPHA:280921
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia ORPHA:1068
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Developmental cataract ORPHA:324416
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria OMIM:257910
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cataract, Blue sclerae ORPHA:2772
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract OMIM:601794
Obesity And Hypopigmentation
Red hair OMIM:620195
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Blue sclerae, Decreased corneal thickness OMIM:229200
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Buphthalmos, Microcornea, Posterior synech... OMIM:221900
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Microphthalmia With Brain And Digit Anomalies
Cataract, Anophthalmia, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma ORPHA:139471
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia ORPHA:65288
Temtamy Syndrome
Microphthalmia, Iris coloboma ORPHA:1777
Craniotelencephalic Dysplasia
Optic nerve hypoplasia OMIM:218670
Cofs Syndrome
Microphthalmia, Cataract ORPHA:1466
Mmep Syndrome
Microphthalmia ORPHA:3434
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:363741
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Buphthalmos, Hypoplasia of the iris, Opacification of the ... OMIM:310600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract OMIM:251270
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Wagro Syndrome
Aniridia, Cataract, Corneal opacity, Ocular hypertension OMIM:612469
X-Linked Intellectual Disability, Najm Type
Cerebral cortical atrophy, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Laron Syndrome
Blue sclerae OMIM:262500
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Optic nerve hypoplasia OMIM:614306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Leukodystrophy, Hypomyelinating, 25
Blue sclerae OMIM:620243
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:48431
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Blue sclerae OMIM:617051
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Pelvis-Shoulder Dysplasia
Microphthalmia, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Microphthalmia, Iris coloboma, Sclerocornea OMIM:615145
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cataract OMIM:613730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cataract, Blue sclerae OMIM:619286
Lissencephaly 8
Microphthalmia, Cataract OMIM:617255
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity ORPHA:290
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Optic nerve hypoplasia ORPHA:228384
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Warburg Micro Syndrome 1
Microcornea, Microphthalmia, Developmental cataract OMIM:600118
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Nance-Horan Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Developmental cataract OMIM:613155
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Grubben-De Cock-Borghgraef Syndrome
Blue sclerae ORPHA:2101
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... ORPHA:91495
Parietal Foramina 1
Blue sclerae OMIM:168500
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Grant Syndrome
Blue sclerae OMIM:138930
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Microphthalmia, Cataract, Iris transillumination defect OMIM:617306
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Central ner... ORPHA:447788
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy ORPHA:1528
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma ORPHA:1791
Spondylo-Ocular Syndrome
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Blue sclerae, Iris coloboma ORPHA:1236
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Cataract, Developmental cataract OMIM:610756
Visual Impairment And Progressive Phthisis Bulbi
Phthisis bulbi, Flat cornea OMIM:618283
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma ORPHA:2791
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Temtamy Syndrome
Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation OMIM:218340
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia ORPHA:496790
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Pontocerebellar Hypoplasia, Type 1F
Blue sclerae OMIM:619304
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract ORPHA:93267
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Microphthalmia, Syndromic 5
Cataract, Anophthalmia, Optic nerve hypoplasia, Microcornea, Microphthalmia OMIM:610125
Phacoanaphylactic Uveitis
Ocular hypertension, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morpholog... ORPHA:209959
Optic Atrophy 11
Optic nerve hypoplasia, Optic atrophy, Facial diplegia, Brain atrophy, Cherry red spot of the mac... OMIM:617302
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia OMIM:152950
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea ORPHA:77298
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity OMIM:613153
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Vitreous floaters, Ocular hypertension, Vitritis, Retinal hemorr... ORPHA:79098
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Anophthalmia, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia OMIM:615877
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia, Iris coloboma ORPHA:85284
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia ORPHA:1806
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Blue sclerae, Abnormally large globe ORPHA:363417
Silver-Russell Syndrome 2
Blue sclerae OMIM:618905
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Blue sclerae ORPHA:2324
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Blue sclerae ORPHA:457365
Curry-Jones Syndrome
Microphthalmia, Iris coloboma ORPHA:1553
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Vitreoretinochoroidopathy
Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract OMIM:193220
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Blue sclerae ORPHA:2840
Developmental And Epileptic Encephalopathy 28
Blue sclerae OMIM:616211
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Blue sclerae, Corneal opacity ORPHA:357058
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:401777
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Blue sclerae ORPHA:157965
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Hereditary Methemoglobinemia
Blue sclerae ORPHA:621
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Optic nerve hypoplasia OMIM:614833
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Osteogenesis Imperfecta, Type Xiv
Blue sclerae OMIM:615066
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620157
Grant Syndrome
Blue sclerae ORPHA:2097
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Blue sclerae ORPHA:231137
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea ORPHA:370959
Pseudodiastrophic Dysplasia
Blue sclerae OMIM:264180
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Desbuquois Syndrome
Blue sclerae ORPHA:1425
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Frontonasal Dysplasia 1
Microphthalmia, Cataract OMIM:136760
Osteogenesis Imperfecta, Type Ix
Blue sclerae OMIM:259440
Osteogenesis Imperfecta, Type V
Blue sclerae OMIM:610967
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Osteogenesis Imperfecta, Type Xix
Blue sclerae OMIM:301014
Dural Sinus Malformation
Papilledema, Ocular hypertension ORPHA:97339
Musculocontractural Ehlers-Danlos Syndrome
Astigmatism, Blue sclerae, Ocular hypertension ORPHA:2953
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Corneal opacity, Optic nerve aplasia OMIM:120200
Chromosome 6Pter-P24 Deletion Syndrome
Posterior embryotoxon, Blue sclerae, Opacification of the corneal stroma OMIM:612582
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Blue sclerae, Decreased corne... ORPHA:90354
Trisomy 13
Cataract, Anophthalmia, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma ORPHA:3378
Congenital Myopathy 20
Blue sclerae OMIM:620310
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia, Global brain atrophy OMIM:300953
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Abnormally large globe OMIM:615249
Kapur-Toriello Syndrome
Microphthalmia, Iris coloboma ORPHA:2328
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia OMIM:618828
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots ORPHA:100
Ehlers-Danlos Syndrome, Classic Type, 1
Blue sclerae, Ectopia lentis OMIM:130000
Lowry-Maclean Syndrome
Megalocornea, Blue sclerae, Corneal opacity ORPHA:2409
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Blue sclerae OMIM:618707
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma ORPHA:3301
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia OMIM:618381
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Blue sclerae OMIM:615539
Oculofaciocardiodental Syndrome
Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma ORPHA:2712
Osteogenesis Imperfecta, Type Xv
Blue sclerae OMIM:615220
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Blue sclerae ORPHA:464288
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cataract OMIM:612379
White Forelock With Malformations
Blue sclerae ORPHA:2475
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Blue sclerae OMIM:616817
Myopathic Ehlers-Danlos Syndrome
Blue sclerae ORPHA:536516
Laron Syndrome
Blue sclerae ORPHA:633
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia OMIM:607597
1P31P32 Microdeletion Syndrome
Ocular hypertension ORPHA:401986
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Astigmatism, Iris coloboma ORPHA:494344
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Spondylometaphyseal Dysplasia, Pagnamenta Type
Blue sclerae OMIM:619638
Diastrophic Dysplasia
Blue sclerae ORPHA:628
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia ORPHA:572013
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Verheij Syndrome
Optic nerve hypoplasia, Cerebral atrophy OMIM:615583
Phakomatosis Pigmentovascularis
Blue sclerae ORPHA:2875
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Blue sclerae OMIM:612350
Adams-Oliver Syndrome 2
Microphthalmia, Developmental cataract OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract OMIM:614105
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Walker-Warburg Syndrome
Cataract, Corneal opacity, Anophthalmia, Microcornea, Microphthalmia, Iris coloboma ORPHA:899
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cataract OMIM:214150
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Blue sclerae ORPHA:391408
Baraitser-Winter Syndrome 1
Microphthalmia, Iris coloboma OMIM:243310
Braddock Syndrome
Blue sclerae ORPHA:52047
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Hallermann-Streiff Syndrome
Microphthalmia, Cataract, Blue sclerae, Iris coloboma OMIM:234100
Nail-Patella Syndrome
Ocular hypertension, Abnormal iris pigmentation, Antecubital pterygium, Lester's sign ORPHA:2614
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation ORPHA:284160
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia OMIM:615280
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia ORPHA:363686
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Microcoria, Uveal ectropion, Hypoplasia... OMIM:609049
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
Saul-Wilson Syndrome
Cataract, Blue sclerae OMIM:618150
Squalene Synthase Deficiency
Optic nerve hypoplasia OMIM:618156
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Cataract, Leukocoria ORPHA:2714
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Blue sclerae OMIM:619120
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma OMIM:243605
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Limbal dermoid, Sclerocornea OMIM:613001
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Cataract, Developmental cataract OMIM:616395
Mevalonic Aciduria
Nuclear cataract, Cataract, Blue sclerae OMIM:610377
Joubert Syndrome 22
Microphthalmia OMIM:615665
Incontinentia Pigmenti
Cataract, Corneal opacity, Keratitis, Blue sclerae, Microphthalmia ORPHA:464
Warburg Micro Syndrome 4
Microcornea, Microphthalmia, Developmental cataract OMIM:615663
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Blue sclerae OMIM:614438
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:163649
Silver-Russell Syndrome 1
Blue sclerae OMIM:180860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract OMIM:616538
Warburg Micro Syndrome 3
Microcornea, Microphthalmia, Cataract, Developmental cataract OMIM:614222
Congenital Fibrinogen Deficiency
Microphthalmia, Developmental cataract ORPHA:335
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Frontorhiny
Microphthalmia, Cataract, Iris coloboma ORPHA:391474
Kapur-Toriello Syndrome
Microphthalmia, Cataract, Iris coloboma OMIM:244300
Warburg Micro Syndrome 2
Microcornea, Microphthalmia, Cataract, Developmental cataract OMIM:614225
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Blue sclerae OMIM:620250
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Blue sclerae OMIM:617101
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Blue sclerae OMIM:619383
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
D-Glyceric Aciduria
Cerebral cortical atrophy, Optic nerve hypoplasia OMIM:220120
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Goldberg-Shprintzen Syndrome
Megalocornea, Corneal ulceration, Blue sclerae, Corneal erosion OMIM:609460
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Familial Exudative Vitreoretinopathy
Microphthalmia, Cataract ORPHA:891
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:3157
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Cataract, Persistent pupillary membrane OMIM:613150
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia, Global brain atrophy OMIM:301056
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Cerebral cortical atrophy, Optic nerve hypoplasia OMIM:617864
Microphthalmia, Lenz Type
Microcornea, Microphthalmia, Cataract, Iris coloboma ORPHA:568
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Temtamy Preaxial Brachydactyly Syndrome
Blue sclerae OMIM:605282
Refsum Disease
Microphthalmia, Cataract ORPHA:773
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane OMIM:257850
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Blue sclerae, Conjunctivitis OMIM:615560
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Microphthalmia, Keratoconjunctivitis sicca OMIM:234050
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia, Cataract, Iris coloboma ORPHA:2250
Rhizomelic Chondrodysplasia Punctata, Type 2
Optic nerve hypoplasia OMIM:222765
Phace Association
Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome OMIM:606519
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia, Cerebral atrophy OMIM:612513
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Dentinogenesis Imperfecta
Blue sclerae ORPHA:49042
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Blue sclerae OMIM:619115
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia OMIM:617914
Rabin-Pappas Syndrome
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620155
19P13.13 Microdeletion Syndrome
Corpus callosum atrophy, Optic atrophy, Optic nerve hypoplasia ORPHA:357001
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia OMIM:609053
Brachycephaly, Trichomegaly, And Developmental Delay
Blue sclerae OMIM:617412
Neonatal Marfan Syndrome
Iridodonesis, Megalocornea, Blue sclerae, Ectopia lentis ORPHA:284979
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Hypophosphatasia, Infantile
Blue sclerae OMIM:241500
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Astigmatism, Cataract OMIM:618571
Osteogenesis Imperfecta, Type Ii
Blue sclerae OMIM:166210
Seckel Syndrome 2
Microphthalmia OMIM:606744
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Buphthalmos, Ocular hypertension OMIM:610199
Osteogenesis Imperfecta, Type Iii
Blue sclerae OMIM:259420
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia OMIM:300749
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Microphthalmia ORPHA:2505
Wiedemann-Steiner Syndrome
Blue sclerae OMIM:605130
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
2P15P16.1 Microdeletion Syndrome
Optic nerve hypoplasia, Optic atrophy, Facial palsy ORPHA:261349
Cutis Laxa, Autosomal Recessive, Type Iib
Blue sclerae OMIM:612940
Osteogenesis Imperfecta, Type Xiii
Blue sclerae OMIM:614856
White-Sutton Syndrome
Rod-cone dystrophy, Optic nerve hypoplasia, Cerebral atrophy OMIM:616364
Cole-Carpenter Syndrome 2
Blue sclerae OMIM:616294
Marshall-Smith Syndrome
Blue sclerae ORPHA:561
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
De Barsy Syndrome
Blue sclerae, Cataract, Corneal opacity ORPHA:2962
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Micro Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:2510
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Microcornea, Blue sclerae ORPHA:1900
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid... ORPHA:42775
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Blue sclerae, Abnormally large globe OMIM:245600
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
X-Linked Dominant Chondrodysplasia Punctata
Microcornea, Microphthalmia, Cataract ORPHA:35173
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology ORPHA:300570
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Cataract OMIM:610651
Linear Nevus Sebaceus Syndrome
Microphthalmia, Iris coloboma ORPHA:2612
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Microphthalmia, Cataract OMIM:616449
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Blue sclerae, Megalocorn... ORPHA:536471
Roberts Syndrome
Microphthalmia, Cataract, Blue sclerae ORPHA:3103
Steinfeld Syndrome
Microphthalmia, Iris coloboma OMIM:184705
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy OMIM:201180
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Fg Syndrome Type 1
Optic nerve hypoplasia ORPHA:93932
Osteogenesis Imperfecta, Type Xviii
Blue sclerae OMIM:617952
Vertebral Hypersegmentation And Orofacial Anomalies
Blue sclerae OMIM:619122
Frontofacionasal Dysplasia
Microcornea, Microphthalmia, Cataract, Iris coloboma OMIM:229400
Osteogenesis Imperfecta, Type Xi
Blue sclerae OMIM:610968
Joubert Syndrome 37
Microphthalmia OMIM:619185
Opsismodysplasia
Blue sclerae ORPHA:2746
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia OMIM:236670
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Chromosome 9P Deletion Syndrome
Blue sclerae OMIM:158170
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:261250
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Sclerocornea OMIM:300952
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Ocular hypertensi... ORPHA:91500
Monosomy 18P
Microphthalmia ORPHA:1598
Trichothiodystrophy 1, Photosensitive
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract OMIM:601675
Curry-Jones Syndrome
Microphthalmia, Iris coloboma OMIM:601707
Silver-Russell Syndrome
Blue sclerae ORPHA:813
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Aniridia 1
Hypoplasia of the fovea, Optic nerve hypoplasia, Chorioretinal hypopigmentation, Macular agenesis... OMIM:106210
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Cataract, Sclerocornea OMIM:614230
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cataract, Iris coloboma ORPHA:250989
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Lymphedema-Distichiasis Syndrome
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions OMIM:153400
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Blue sclerae ORPHA:488627
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Blue sclerae, Developmental cataract ORPHA:488642
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Osteogenesis Imperfecta, Type Xvi
Blue sclerae OMIM:616229
Asparagine Synthetase Deficiency
Caudate atrophy, Optic nerve hypoplasia, Global brain atrophy OMIM:615574
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Trisomy 8P
Blue sclerae, Astigmatism, Heterochromia iridis ORPHA:264450
Cole-Carpenter Syndrome
Blue sclerae ORPHA:2050
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Mycophenolate Mofetil Embryopathy
Microphthalmia, Iris coloboma ORPHA:268249
Martsolf Syndrome 1
Microphthalmia, Cataract, Developmental cataract OMIM:212720
Pseudoxanthoma Elasticum, Forme Fruste
Blue sclerae OMIM:177850
Moebius Syndrome
Microphthalmia OMIM:157900
Desbuquois Dysplasia 2
Blue sclerae OMIM:615777
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Ehlers-Danlos Syndrome, Periodontal Type, 1
Blue sclerae OMIM:130080
Pycnodysostosis
Blue sclerae ORPHA:763
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Adams-Oliver Syndrome
Microphthalmia, Cataract ORPHA:974
Combined Oxidative Phosphorylation Deficiency 55
Blue sclerae OMIM:619743
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Microcornea, Blue sclerae ORPHA:536467
Duane-Radial Ray Syndrome
Microphthalmia, Cataract, Optic disc hypoplasia, Iris coloboma OMIM:607323
Osteogenesis Imperfecta, Type Xx
Blue sclerae OMIM:618644
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Cataract, Iris coloboma, Sclerocornea OMIM:309801
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microphthalmia OMIM:206900
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Microcornea, Blue sclerae OMIM:614557
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Blue sclerae OMIM:615349
Kabuki Syndrome 2
Blue sclerae OMIM:300867
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma OMIM:251300
3Q29 Microdeletion Syndrome
Microphthalmia, Cataract ORPHA:65286
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Microcornea, Microphthalmia, Iris coloboma ORPHA:959
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Microcornea, Keratoconus, Blue sclerae OMIM:225400
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Iris atrophy, Cataract OMIM:259770
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Blue sclerae OMIM:225410
Monosomy 13Q14
Microphthalmia, Cataract, Iris coloboma ORPHA:1587
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Ocular hypertension ORPHA:93315
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Optic nerve hypoplasia OMIM:620029
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Microphthalmia, Iris coloboma ORPHA:2092
Cohen Syndrome
Microphthalmia, Iris coloboma ORPHA:193
Papillorenal Syndrome
Microphthalmia, Cataract, Lens luxation OMIM:120330
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Cataract OMIM:302960
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia, Cerebral atrophy, Attenuation of r... ORPHA:468631
Congenital Disorder Of Glycosylation, Type It
Blue sclerae OMIM:614921
8P Inverted Duplication/Deletion Syndrome
Blue sclerae ORPHA:96092
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Optic nerve hypoplasia ORPHA:221139
Cat Eye Syndrome
Microphthalmia, Iris coloboma OMIM:115470
Jacobsen Syndrome
Microcornea, Microphthalmia, Macular hypoplasia, Iris coloboma OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Cataract OMIM:253800
Cartilage-Hair Hypoplasia
Blue sclerae, Aplasia/Hypoplasia affecting the eye ORPHA:175
Vacterl With Hydrocephalus
Microcornea, Microphthalmia, Anophthalmia ORPHA:3412
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Osteogenesis Imperfecta, Type Iv
Blue sclerae OMIM:166220
Pseudoxanthoma Elasticum
Blue sclerae ORPHA:758
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Trisomy 18
Microcornea, Microphthalmia, Cataract, Iris coloboma ORPHA:3380
Osteogenesis Imperfecta, Type X
Blue sclerae OMIM:613848
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Basal Cell Nevus Syndrome 1
Microphthalmia, Cataract, Iris coloboma OMIM:109400
Osteootohepatoenteric Syndrome
Blue sclerae OMIM:619377
Meckel Syndrome
Cataract, Anophthalmia, Sclerocornea, Microcornea, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:564
Kabuki Syndrome
Microcornea, Blue sclerae ORPHA:2322
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Developmental cataract OMIM:127000
Marshall-Smith Syndrome
Blue sclerae, Optic nerve hypoplasia OMIM:602535
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Abnormal optic disc morphology, Retinal coloboma, Facial palsy ORPHA:508498
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Loeys-Dietz Syndrome 5
Blue sclerae OMIM:615582
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma OMIM:223370
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Hydranencephaly
Cerebral cortical atrophy, Chorioretinal atrophy, Optic nerve hypoplasia ORPHA:2177
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Congenital Fibrosis Of Extraocular Muscles
Optic nerve hypoplasia ORPHA:45358
2Q31.1 Microdeletion Syndrome
Microphthalmia, Iris coloboma ORPHA:251014
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia OMIM:617506
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Microphthalmia, Developmental cataract ORPHA:464738
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... ORPHA:79430
Osteogenesis Imperfecta, Type I
Blue sclerae OMIM:166200
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Corneal opacity ORPHA:364577
Mosaic Trisomy 1
Microphthalmia, Opacification of the corneal stroma ORPHA:1692
Kyphoscoliotic Ehlers-Danlos Syndrome
Microcornea, Blue sclerae ORPHA:536545
Fryns Syndrome
Microphthalmia, Corneal opacity ORPHA:2059
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Blue sclerae, Ectopia lentis OMIM:271640
Mosaic Trisomy 9
Microphthalmia, Corneal opacity ORPHA:99776
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia, Corneal opacity OMIM:601812
Joubert Syndrome 14
Microphthalmia OMIM:614424
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Iris coloboma ORPHA:3186
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... ORPHA:84064
Proboscis Lateralis
Cataract, Corneal opacity, Anophthalmia, Optic nerve hypoplasia, Microcornea, Microphthalmia, Iri... ORPHA:141099
Incontinentia Pigmenti
Keratitis, Microphthalmia, Hypoplasia of the fovea, Cataract OMIM:308300
Atelis Syndrome 2
Microphthalmia, Developmental cataract OMIM:620185
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia, Cerebellar cortical atrophy OMIM:619321
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Blue sclerae OMIM:616539
Robinow Syndrome, Autosomal Dominant 3
Blue sclerae OMIM:616894
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microcornea, Astigmatism, Blue sclerae OMIM:601776
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Blue sclerae OMIM:616728
Cousin Syndrome
Microcornea, Microphthalmia OMIM:260660
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Rothmund-Thomson Syndrome, Type 2
Microcornea, Microphthalmia, Cataract, Zonular cataract OMIM:268400
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia OMIM:301043
Cerebrooculonasal Syndrome
Optic nerve hypoplasia OMIM:605627
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal optic nerve morphology, Optic nerve hypoplasia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal optic nerve morphology, Optic nerve hypoplasia ORPHA:352665
Histiocytoid Cardiomyopathy
Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Prader-Willi Syndrome
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... OMIM:176270
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia OMIM:609069
Monosomy 9Q22.3
Microphthalmia, Cataract ORPHA:77301
Autosomal Recessive Robinow Syndrome
Blue sclerae ORPHA:1507
Oculodentodigital Dysplasia
Microcornea, Microphthalmia, Cataract OMIM:164200
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Treacher-Collins Syndrome
Microphthalmia, Cataract, Iris coloboma ORPHA:861
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Iris coloboma OMIM:613884
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Mic... OMIM:619539
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Cockayne Syndrome B
Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the corneal stroma,... OMIM:133540
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation ORPHA:2719
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia ORPHA:457284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal... OMIM:253280
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... ORPHA:177907
Holoprosencephaly
Microphthalmia, Anophthalmia, Iris coloboma ORPHA:2162
Cockayne Syndrome Type 3
Cataract, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Microphthalmia, Corneal ulceration ORPHA:90324
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Cataract, Corneal opacity ORPHA:1052
Osteogenesis Imperfecta
Blue sclerae, Corneal opacity ORPHA:666
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Cataract OMIM:603457
Alkaptonuria
Blue sclerae ORPHA:56
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce... OMIM:263650
Frontometaphyseal Dysplasia 2
Blue sclerae OMIM:617137
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:610828
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98754
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Blue sclerae, Opacification of the corneal stroma, Microphthalmia OMIM:268300
Mend Syndrome
Microphthalmia, Cataract ORPHA:401973
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98793
Hallermann-Streiff Syndrome
Microphthalmia, Developmental cataract ORPHA:2108
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177901
Vici Syndrome
Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin, Albinism OMIM:242840
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Cataract ORPHA:306542
Autosomal Dominant Robinow Syndrome
Blue sclerae ORPHA:3107
Microphthalmia, Syndromic 2
Anophthalmia, Phthisis bulbi, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:300166
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Blue sclerae OMIM:130070
Tetraamelia Syndrome 1
Microphthalmia, Cataract OMIM:273395
Joubert Syndrome 2
Microphthalmia OMIM:608091
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia ORPHA:226307
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia, Cataract ORPHA:2526
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus, Microphthalmia ORPHA:534
Wiedemann-Rautenstrauch Syndrome
Cataract, Blue sclerae OMIM:264090
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Blue sclerae ORPHA:477993
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Wiedemann-Rautenstrauch Syndrome
Blue sclerae, Optic disc hypoplasia, Cataract, Corneal opacity ORPHA:3455
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Cataract OMIM:620005
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Osteopetrosis With Renal Tubular Acidosis
Blue sclerae ORPHA:2785
Meckel Syndrome 14
Microphthalmia OMIM:619879
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Aicardi Syndrome
Microphthalmia, Cataract OMIM:304050
Cockayne Syndrome
Cataract, Band keratopathy, Developmental cataract, Abnormal cornea morphology, Lentiglobus, Kera... ORPHA:191
Holoprosencephaly 9
Optic nerve hypoplasia OMIM:610829
Isolated Arrhinia
Microphthalmia ORPHA:1134
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... OMIM:619488
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Corneal opacity, Sclerocornea, Microphthalmia, Posterior embryotoxon ORPHA:2556
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia, Astigmatism, Cataract ORPHA:84
Diaphragmatic Hernia 4, With Cardiovascular Defects
Optic nerve hypoplasia OMIM:620025
8Q24.3 Microdeletion Syndrome
Retinal coloboma, Optic nerve hypoplasia, Global brain atrophy ORPHA:508488
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Corneal opacity OMIM:608670
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Fibromuscular Dysplasia, Multifocal
Blue sclerae OMIM:619329
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Microphthalmia OMIM:616734
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Optic nerve hypoplasia ORPHA:495875
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Iris coloboma OMIM:620186
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Baller-Gerold Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:218600
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Meckel Syndrome, Type 1
Microphthalmia, Iris coloboma OMIM:249000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Global brain atrophy ORPHA:500150
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Myhre Syndrome
Microphthalmia, Cataract OMIM:139210
Fryns Syndrome
Microphthalmia, Opacification of the corneal stroma OMIM:229850
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Microphthalmia, Antecubital pterygium OMIM:609945
Mowat-Wilson Syndrome
Cataract, Microcornea, Ectopia pupillae, Microphthalmia, Iris coloboma OMIM:235730
Carpenter Syndrome 2
Blue sclerae OMIM:614976
22Q11.2 Deletion Syndrome
Microphthalmia, Posterior embryotoxon, Cataract, Corneal neovascularization ORPHA:567
Charge Syndrome
Microphthalmia, Anophthalmia, Iris coloboma ORPHA:138
Loeys-Dietz Syndrome 1
Blue sclerae OMIM:609192
Cardiospondylocarpofacial Syndrome
Blue sclerae OMIM:157800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Blue sclerae OMIM:619503
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract OMIM:309000
Focal Dermal Hypoplasia
Anophthalmia, Ectopia lentis, Aniridia, Microphthalmia, Iris coloboma OMIM:305600
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:95494
Holoprosencephaly 2
Microphthalmia, Iris coloboma OMIM:157170
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair ORPHA:818
Fraser Syndrome 2
Microphthalmia OMIM:617666
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Optic nerve hypoplasia OMIM:620330
Renpenning Syndrome 1
Microphthalmia, Cataract OMIM:309500
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos, Sclerocornea, Cataract ORPHA:3472
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Osteogenesis Imperfecta, Type Vii
Blue sclerae OMIM:610682
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology, Blue sclerae ORPHA:286
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract OMIM:612474
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia OMIM:616975
Loeys-Dietz Syndrome 2
Blue sclerae OMIM:610168
Aicardi Syndrome
Microphthalmia ORPHA:50
Cystinosis, Nephropathic
Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... OMIM:219800
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Loeys-Dietz Syndrome
Blue sclerae ORPHA:60030
Neu-Laxova Syndrome 1
Microphthalmia, Pterygium, Cataract OMIM:256520
Kabuki Syndrome 1
Blue sclerae OMIM:147920
Witteveen-Kolk Syndrome
Anisocoria, Microphthalmia, Cataract, Iris coloboma OMIM:613406
Wrinkly Skin Syndrome
Blue sclerae OMIM:278250
Monosomy 9P
Microphthalmia ORPHA:261112
Microphthalmia, Syndromic 6
Microcornea, Microphthalmia, Anophthalmia, Sclerocornea OMIM:607932
Charge Syndrome
Anophthalmia, Cataract, Unilateral microphthalmos, Microphthalmia, Iris coloboma OMIM:214800
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia, Cataract, Iris coloboma OMIM:113620
Townes-Brocks Syndrome
Limbal dermoid, Microphthalmia, Cataract, Iris coloboma ORPHA:857
Viss Syndrome
Blue sclerae OMIM:619472
Microphthalmia, Syndromic 1
Anophthalmia, Microcornea, Ciliary body coloboma, Microphthalmia, Iris coloboma OMIM:309800
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Mi... ORPHA:261552
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Holoprosencephaly 1
Microphthalmia OMIM:236100
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Astigmatism, Iris coloboma, Cataract ORPHA:261537
Mowat-Wilson Syndrome
Microphthalmia, Astigmatism, Iris coloboma, Cataract ORPHA:2152
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Craniofacial Microsomia 1
Limbal dermoid, Microphthalmia, Anophthalmia OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Prss56

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Prss56.

No publications found that use IMPC mice or data for Prss56.

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MGI Allele Allele Type Produced
Prss56em1(IMPC)J Indel Mice
Prss56em2(IMPC)J Exon Deletion Mice

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