Gene Summary

Name:
protease, serine 56
Synonyms:
Prss56,  1700027L20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased leukocyte cell number Prss56em1(IMPC)J HOM Early adult 4.24×10-05
abnormal vocalization Prss56em2(IMPC)J HOM Early adult 2.66×10-10
abnormal coat/hair pigmentation Prss56em2(IMPC)J HOM Early adult 7.25×10-12

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

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 Skull Lateral Orientation

12 Images

Sleep Wake

Wake state (bmp file)

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Forepaw

12 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

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

9 Images

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
Ocular hypertension, Microcornea, Microphthalmia 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
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Immunodeficiency 40
Lymphopenia OMIM:616433
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio, Ocular hypertension OMIM:603383
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated 6
Ocular hypertension, Microcornea, Microphthalmia OMIM:613517
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular hypertension, Iris coloboma, Microphthalmia OMIM:610023
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Microcornea, Microphthalmia, Sclerocornea, Ocular hypertension OMIM:269400
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Nanophthalmos 4
Microphthalmia OMIM:615972
Glaucoma 3, Primary Congenital, E
Megalocornea, Ocular hypertension OMIM:617272
Microcoria, Congenital
Microcoria, Ocular hypertension, Hypoplasia of the iris dilator muscle OMIM:156600
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Microcornea, Microphthalmia, Sclerocornea, Ocular hype... OMIM:612109
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Glaucoma 1, Primary Open Angle, C
Ocular hypertension OMIM:601682
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ocular hypertension, Ectopia lentis OMIM:613195
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Microcornea, Microphthal... OMIM:610256
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Iris coloboma, Bilateral microphthalmos, Anophthalmia OMIM:611638
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Exfoliation Syndrome
Anisocoria, Asymmetry of intraocular pressure, Cataract, Iris hypoperfusion, Abnormality of the l... OMIM:177650
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Blue sclerae, Heterochromia iridis ORPHA:66633
Neovascular Glaucoma
Retinal vein occlusion, Abnormal posterior eye segment morphology, Ocular hypertension, Abnormali... ORPHA:94058
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Ectopia lentis, Iris atrophy, Microphthalmia, Low intraocular pressure OMIM:601552
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Ocular hypertension OMIM:602499
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Ocular hypertension OMIM:618880
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Microphthalmia ORPHA:2432
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma, Microphthalmia OMIM:212550
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Juvenile Glaucoma
Retinal vein occlusion, Temporal optic disc pallor, Abnormality of the optic nerve, Increased cup... ORPHA:98977
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia OMIM:609218
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Gluteal Muscles, Absence Of
Optic nerve hypoplasia OMIM:231970
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Uveal Melanoma
Inferior lens subluxation, Ocular hypertension, Mydriasis, Ciliary body melanoma, Zonular catarac... ORPHA:39044
Weill-Marchesani Syndrome 3
Ocular hypertension, Ectopia lentis, Microspherophakia OMIM:614819
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Microcorne... OMIM:604229
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Nanophthalmos
Microphthalmia ORPHA:35612
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Microphthalmia OMIM:120433
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Microphthalmia ORPHA:1473
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Iris coloboma, Microphthalmia, Posterior lenticonus ORPHA:231736
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia ORPHA:318
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacifi... ORPHA:2334
Hyperostosis Cranialis Interna
Facial palsy, Ocular hypertension, Optic atrophy OMIM:144755
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Microphthalmia ORPHA:1617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Ocular hypertension OMIM:107250
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, ... ORPHA:137902
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Glaucoma 3, Primary Congenital, A
Buphthalmos, Ocular hypertension OMIM:231300
Mevalonic Aciduria
Cataract, Blue sclerae ORPHA:29
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Ocular hypertension,... ORPHA:280914
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Blue sclerae, ... OMIM:614170
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Developmental cataract, Blue sclerae OMIM:259410
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Blue sclerae, Microphthalmia ORPHA:2788
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia OMIM:300915
Cat-Eye Syndrome
Iris coloboma, Microphthalmia ORPHA:195
Norrie Disease
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, Microphthalmia OMIM:310600
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia OMIM:615877
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Microphthalmia ORPHA:324416
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Retinal detachment OMIM:615113
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia ORPHA:65288
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Microphakia, Ectopia lentis, Hypoplasia of the ir... OMIM:617319
Oculopalatocerebral Syndrome
Leukocoria, Microphthalmia OMIM:257910
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Microphthalmia OMIM:169550
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cataract, Blue sclerae ORPHA:2772
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia ORPHA:1068
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Idiopathic Panuveitis
Vitreous haze, Vitreous snowballs, Epiretinal membrane, Cystoid macular edema, Choroidal neovascu... ORPHA:280921
Mmep Syndrome
Microphthalmia ORPHA:3434
Brittle Cornea Syndrome 1
Keratoconus, Decreased corneal thickness, Keratoglobus, Abnormal cornea morphology, Blue sclerae OMIM:229200
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia OMIM:601794
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Myopia 27
Increased axial length of the globe OMIM:618827
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Leukocoria, Iris coloboma, Corneal opacity, Cataract,... OMIM:221900
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Temtamy Syndrome
Iris coloboma, Microphthalmia ORPHA:1777
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia ORPHA:139471
Laron Syndrome
Blue sclerae OMIM:262500
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:363741
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Microphthalmia OMIM:251270
Cofs Syndrome
Cataract, Microphthalmia ORPHA:1466
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Blue sclerae OMIM:166230
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Iris coloboma, Microphthalmia, Sclerocornea OMIM:615145
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Optic atrophy, Optic nerve hypoplasia, Cerebral cortical atrophy ORPHA:163937
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia OMIM:617914
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Craniotelencephalic Dysplasia
Optic nerve hypoplasia OMIM:218670
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium, Popliteal pterygium OMIM:619339
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
Congenital Rubella Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Cerebral Visual Impairment
Neurodegeneration, Retinopathy of prematurity, Increased cup-to-disc ratio, Optic nerve hypoplasi... ORPHA:447788
Osteogenesis Imperfecta, Type Xix
Blue sclerae OMIM:301014
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Saul-Wilson Syndrome
Cataract, Blue sclerae OMIM:618150
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Frontal cortical atrophy ORPHA:228384
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment OMIM:615181
Warburg Micro Syndrome 1
Developmental cataract, Microcornea, Microphthalmia OMIM:600118
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cataract, Blue sclerae OMIM:619286
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia OMIM:214150
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Microphthalmia ORPHA:35173
Grubben-De Cock-Borghgraef Syndrome
Blue sclerae ORPHA:2101
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Grant Syndrome
Blue sclerae OMIM:138930
Frontofacionasal Dysplasia
Brushfield spots, Iris coloboma, Cataract, Microcornea, Microphthalmia, Limbal dermoid ORPHA:1791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Microphthalmia OMIM:613153
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Cerebral cortical atrophy, Optic nerve hypoplasia OMIM:617864
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Blue sclerae, Iris coloboma, Microphthalmia ORPHA:1236
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Blue sclerae OMIM:184000
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Adams-Oliver Syndrome 2
Developmental cataract, Microphthalmia OMIM:614219
Otodental Syndrome
Iris coloboma, Lens coloboma, Cataract, Microcornea, Microphthalmia ORPHA:2791
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Cerebellar atrophy, Optic atrophy, Optic nerve hypoplasia ORPHA:496790
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Cataract, Microcornea, Microphthalmia, Astigmatism, Myopic astigmatism OMIM:152950
Pontocerebellar Hypoplasia, Type 1F
Blue sclerae OMIM:619304
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Combined Oxidative Phosphorylation Deficiency 26
Blue sclerae OMIM:616539
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Visual Impairment And Progressive Phthisis Bulbi
Flat cornea, Phthisis bulbi OMIM:618283
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Microphthalmia, Syndromic 5
Cataract, Microcornea, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Microphthalmia, Sclerocornea, Anophthalmia ORPHA:77298
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia, Iris coloboma ORPHA:85284
Silver-Russell Syndrome 2
Blue sclerae OMIM:618905
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
Temtamy Preaxial Brachydactyly Syndrome
Abnormality of the lens, Blue sclerae, Abnormally large globe ORPHA:363417
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Blue sclerae ORPHA:2324
Trichothiodystrophy 5, Nonphotosensitive
Global brain atrophy, Optic nerve hypoplasia, Retinal dystrophy OMIM:300953
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Microcornea, Microphthalmia, Sclerocornea, Corneal dystrophy ORPHA:1806
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Blue sclerae ORPHA:457365
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Blue sclerae ORPHA:2840
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Optic nerve aplasia, Microphthalmia OMIM:120200
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Corneal opacity, Cataract, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Optic nerve hypoplasia OMIM:614833
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Blue sclerae ORPHA:157965
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Blue sclerae OMIM:601668
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Optic atrophy, Optic nerve hypoplasia ORPHA:401777
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Frontonasal Dysplasia 1
Cataract, Microphthalmia OMIM:136760
3Q29 Microduplication Syndrome
Aniridia, Iris coloboma, Cataract, Microphthalmia, Sclerocornea ORPHA:251038
Grant Syndrome
Blue sclerae ORPHA:2097
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Blue sclerae ORPHA:231137
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Pseudodiastrophic Dysplasia
Blue sclerae OMIM:264180
Ehlers-Danlos Syndrome, Periodontal Type, 1
Blue sclerae OMIM:130080
Osteogenesis Imperfecta, Type Xiii
Blue sclerae OMIM:614856
Osteogenesis Imperfecta, Type Xiv
Blue sclerae OMIM:615066
Desbuquois Syndrome
Blue sclerae ORPHA:1425
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Cutis Laxa, Autosomal Recessive, Type Iib
Blue sclerae OMIM:612940
Carney Complex, Type 1
Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions, Multiple lentigines OMIM:160980
Vitreoretinochoroidopathy
Microcornea, Pulverulent cataract, Microphthalmia OMIM:193220
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Nance-Horan Syndrome
Developmental cataract, Microcornea, Microphthalmia, Posterior Y-sutural cataract OMIM:302350
Osteogenesis Imperfecta, Type Ix
Blue sclerae OMIM:259440
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia OMIM:615280
Hallermann-Streiff Syndrome
Cataract, Blue sclerae, Iris coloboma, Microphthalmia OMIM:234100
Musculocontractural Ehlers-Danlos Syndrome
Astigmatism, Blue sclerae, Ocular hypertension ORPHA:2953
Trisomy 13
Iris coloboma, Aplasia/Hypoplasia of the iris, Cataract, Microphthalmia, Anophthalmia ORPHA:3378
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Cataract, Megalocornea, Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Osteogenesis Imperfecta, Type V
Blue sclerae OMIM:610967
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia OMIM:607597
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Blue sclerae ORPHA:93359
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Abnormally large globe OMIM:615249
Brittle Cornea Syndrome
Decreased corneal thickness, Corneal erosion, Keratoglobus, Corneal scarring, Blue sclerae, Corne... ORPHA:90354
White Forelock With Malformations
Blue sclerae ORPHA:2475
Kapur-Toriello Syndrome
Iris coloboma, Microphthalmia ORPHA:2328
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia OMIM:618828
Lowry-Maclean Syndrome
Megalocornea, Blue sclerae, Corneal opacity ORPHA:2409
Laron Syndrome
Blue sclerae ORPHA:633
Osteogenesis Imperfecta, Type Xv
Blue sclerae OMIM:615220
Tetraamelia-Multiple Malformations Syndrome
Iris coloboma, Cataract, Microcornea, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Blue sclerae ORPHA:464288
Xeroderma Pigmentosum, Complementation Group D
Cataract, Conjunctivitis, Keratitis, Keratoconjunctivitis sicca, Microphthalmia, Corneal neovascu... OMIM:278730
Cat Eye Syndrome
Iris coloboma, Microphthalmia OMIM:115470
Myopathic Ehlers-Danlos Syndrome
Blue sclerae ORPHA:536516
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Blue sclerae OMIM:616817
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Oculofaciocardiodental Syndrome
Ectopia lentis, Iris coloboma, Cataract, Microcornea, Microphthalmia ORPHA:2712
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613266
Diastrophic Dwarfism
Blue sclerae ORPHA:628
Phakomatosis Pigmentovascularis
Blue sclerae ORPHA:2875
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Blue sclerae OMIM:612350
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Blue sclerae OMIM:608406
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract, Microphthalmia OMIM:618727
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Blue sclerae OMIM:617101
Curry-Jones Syndrome
Iris coloboma, Microphthalmia ORPHA:1553
Goldberg-Shprintzen Syndrome
Megalocornea, Corneal ulceration, Blue sclerae, Corneal erosion OMIM:609460
Squalene Synthase Deficiency
Optic nerve hypoplasia OMIM:618156
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Blue irides, Fair hair OMIM:614613
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Blue sclerae OMIM:615539
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Warburg Micro Syndrome 2
Cataract, Developmental cataract, Microcornea, Microphthalmia OMIM:614225
Nail-Patella Syndrome
Antecubital pterygium, Abnormal iris pigmentation, Ocular hypertension, Lester's sign ORPHA:2614
Braddock Syndrome
Blue sclerae ORPHA:52047
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
Osteoporosis-Pseudoglioma Syndrome
Cataract, Iris atrophy, Phthisis bulbi, Microphthalmia OMIM:259770
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Blue sclerae OMIM:615349
Walker-Warburg Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Microphthalmia, Anophthalmia ORPHA:899
Warburg Micro Syndrome 3
Cataract, Developmental cataract, Microcornea, Microphthalmia OMIM:614222
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Blue sclerae ORPHA:391408
Baraitser-Winter Syndrome 1
Iris coloboma, Microphthalmia OMIM:243310
Rere-Related Neurodevelopmental Syndrome
Astigmatism, Iris coloboma, Microphthalmia ORPHA:494344
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Blue sclerae ORPHA:357058
Ehlers-Danlos Syndrome, Classic Type, 1
Blue sclerae, Ectopia lentis OMIM:130000
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Osteogenesis Imperfecta, Type Ii
Blue sclerae OMIM:166210
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Corneal opacity, Cataract, Microphthalmia, Sclerocornea ORPHA:284160
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea OMIM:613001
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Charcot-Marie-Tooth Disease Type 1F
Cervical spinal cord atrophy, Decreased nerve conduction velocity, Absent brainstem auditory resp... ORPHA:101085
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic nerve hypoplasia, Optic disc pallor OMIM:300749
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Microphthalmia OMIM:616538
Chromosome 6Pter-P24 Deletion Syndrome
Opacification of the corneal stroma, Blue sclerae, Posterior embryotoxon OMIM:612582
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Kapur-Toriello Syndrome
Cataract, Iris coloboma, Microphthalmia OMIM:244300
Mevalonic Aciduria
Cataract, Blue sclerae, Nuclear cataract OMIM:610377
Oculo-Palato-Cerebral Syndrome
Leukocoria, Cataract, Microphthalmia ORPHA:2714
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia OMIM:618804
Joubert Syndrome 22
Microphthalmia OMIM:615665
Chromosome 2P16.1-P15 Deletion Syndrome
Cerebral atrophy, Optic nerve hypoplasia OMIM:612513
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Persistent pupillary membrane, Microcornea, Microphthalmia OMIM:257850
Frontorhiny
Cataract, Iris coloboma, Microphthalmia ORPHA:391474
Warburg Micro Syndrome 4
Developmental cataract, Microcornea, Microphthalmia OMIM:615663
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Hyperpigmentation of the skin, Multip... ORPHA:3214
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia OMIM:609053
Papillorenal Syndrome
Lens luxation, Cataract, Microphthalmia OMIM:120330
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Incontinentia Pigmenti
Corneal opacity, Cataract, Keratitis, Blue sclerae, Microphthalmia ORPHA:464
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Blue sclerae OMIM:618707
Temtamy Preaxial Brachydactyly Syndrome
Blue sclerae OMIM:605282
Stromme Syndrome
Iris coloboma, Cataract, Microcornea, Optic nerve hypoplasia, Microphthalmia, Sclerocornea OMIM:243605
Trichothiodystrophy 4, Nonphotosensitive
Keratoconjunctivitis sicca, Microcornea, Microphthalmia OMIM:234050
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Spondyloepiphyseal Dysplasia, Nishimura Type
Cataract, Microphthalmia ORPHA:163649
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Blue sclerae OMIM:619120
Refsum Disease
Cataract, Microphthalmia ORPHA:773
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:3157
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia, Global brain atrophy OMIM:301056
Phace Association
Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome OMIM:606519
Osteogenesis Imperfecta, Type Xvi
Blue sclerae OMIM:616229
Hypophosphatasia, Infantile
Blue sclerae OMIM:241500
Hereditary Methemoglobinemia
Blue sclerae ORPHA:621
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Conjunctivitis, Blue sclerae OMIM:615560
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Corpus callosum atrophy ORPHA:357001
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia ORPHA:363686
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Iris coloboma, Microphthalmia, Anophthalmia ORPHA:2250
Congenital Fibrinogen Deficiency
Developmental cataract, Microphthalmia ORPHA:335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Persistent pupillary membrane, Cataract, Microphthalmia OMIM:613150
Dentinogenesis Imperfecta
Blue sclerae ORPHA:49042
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Microphthalmia OMIM:616734
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Pycnodysostosis
Blue sclerae ORPHA:763
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Blue sclerae OMIM:225410
Silver-Russell Syndrome 1
Blue sclerae OMIM:180860
Neonatal Marfan Syndrome
Iridodonesis, Megalocornea, Blue sclerae, Ectopia lentis ORPHA:284979
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Microphthalmia ORPHA:2505
Brachycephaly, Trichomegaly, And Developmental Delay
Blue sclerae OMIM:617412
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Facial palsy ORPHA:261349
Osteogenesis Imperfecta, Type Iii
Blue sclerae OMIM:259420
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Astigmatism, Microphthalmia OMIM:618571
Cole-Carpenter Syndrome 2
Blue sclerae OMIM:616294
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detac... OMIM:614643
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Blue sclerae OMIM:619115
Xeroderma Pigmentosum, Complementation Group B
Cataract, Microphthalmia OMIM:610651
Steinfeld Syndrome
Iris coloboma, Microphthalmia OMIM:184705
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Marshall-Smith Syndrome
Blue sclerae ORPHA:561
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Blue sclerae, Microcornea ORPHA:1900
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Generalized hypopigmentation of hair, Abnormality of the nail, Abnor... ORPHA:238468
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Phace Syndrome
Heterochromia iridis, Iris coloboma, Lens coloboma, Cataract, Optic nerve hypoplasia, Microphthal... ORPHA:42775
Seckel Syndrome 2
Microphthalmia OMIM:606744
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:261250
Vertebral Hypersegmentation And Orofacial Anomalies
Blue sclerae OMIM:619122
Micro Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:2510
Linear Nevus Sebaceus Syndrome
Iris coloboma, Microphthalmia ORPHA:2612
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia OMIM:609069
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Blue sclerae OMIM:619383
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Blue sclerae, Microcornea OMIM:225400
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea, Microphthalmia OMIM:271960
Opsismodysplasia
Blue sclerae ORPHA:2746
Frontofacionasal Dysplasia
Cataract, Microcornea, Iris coloboma, Microphthalmia OMIM:229400
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Microphthalmia, Sclerocornea OMIM:309801
Roberts Syndrome
Cataract, Blue sclerae, Microphthalmia ORPHA:3103
Aniridia 1
Macular agenesis, Chorioretinal hypopigmentation, Optic nerve hypoplasia, Hypoplasia of the fovea... OMIM:106210
Cutis Laxa, Autosomal Recessive, Type Iiib
Blue sclerae OMIM:614438
Fg Syndrome Type 1
Optic nerve hypoplasia ORPHA:93932
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Sparse scalp hair, Generalized h... ORPHA:3322
Osteogenesis Imperfecta, Type Xi
Blue sclerae OMIM:610968
De Barsy Syndrome
Cataract, Blue sclerae, Corneal opacity ORPHA:2962
Monosomy 18P
Microphthalmia ORPHA:1598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal atrophy, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Optic atrophy OMIM:236670
Trichothiodystrophy 1, Photosensitive
Cataract, Keratoconjunctivitis sicca, Microcornea, Microphthalmia OMIM:601675
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Blue sclerae, Abnormally large globe OMIM:245600
Osteogenesis Imperfecta, Type Xviii
Blue sclerae OMIM:617952
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Microphthalmia OMIM:201180
Microphthalmia, Syndromic 3
Optic nerve hypoplasia OMIM:206900
Martsolf Syndrome 1
Developmental cataract, Microphthalmia OMIM:212720
Microphthalmia, Lenz Type
Cataract, Microcornea, Iris coloboma, Microphthalmia ORPHA:568
Knobloch Syndrome 1
Macular hypoplasia, Developmental cataract, Band keratopathy, Phthisis bulbi OMIM:267750
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Blue sclerae, Microcornea OMIM:601776
Joubert Syndrome 14
Microphthalmia OMIM:614424
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Trisomy 8P
Astigmatism, Blue sclerae, Heterochromia iridis ORPHA:264450
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Silver-Russell Syndrome
Blue sclerae ORPHA:813
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Cystoid macular edema, Papilledema, Choroidal neovasculariza... ORPHA:91500
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Desbuquois Dysplasia 2
Blue sclerae OMIM:615777
Mycophenolate Mofetil Embryopathy
Iris coloboma, Microphthalmia ORPHA:268249
Cole-Carpenter Syndrome
Blue sclerae ORPHA:2050
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Adams-Oliver Syndrome
Cataract, Microphthalmia ORPHA:974
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Blue sclerae ORPHA:488627
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Microphthalmia OMIM:302960
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Kabuki Syndrome 2
Blue sclerae OMIM:300867
Monosomy 13Q14
Cataract, Iris coloboma, Microphthalmia ORPHA:1587
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Developmental cataract, Blue sclerae ORPHA:488642
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Cataract, Iris coloboma, Microphthalmia OMIM:607323
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Attenuation of retinal blood vessels, Cerebral atrophy, Cerebellar atrophy, Optic nerve hypoplasi... ORPHA:468631
3Q29 Microdeletion Syndrome
Cataract, Microphthalmia ORPHA:65286
Chediak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Giant melanosomes in melanocytes, Silver-gray ha... OMIM:214500
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Optic nerve hypoplasia ORPHA:221139
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Osteogenesis Imperfecta, Type Xx
Blue sclerae OMIM:618644
Pseudoxanthoma Elasticum, Forme Fruste
Blue sclerae OMIM:177850
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Iris coloboma, Cataract, Microcornea, Microphthalmia ORPHA:959
Moebius Syndrome
Microphthalmia OMIM:157900
8P Inverted Duplication/Deletion Syndrome
Blue sclerae ORPHA:96092
Osteogenesis Imperfecta, Type X
Blue sclerae OMIM:613848
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Dubowitz Syndrome
Hypoplasia of the iris, Megalocornea, Iris coloboma, Microphthalmia OMIM:223370
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Jacobsen Syndrome
Macular hypoplasia, Microcornea, Iris coloboma, Microphthalmia OMIM:147791
Hydranencephaly
Cerebral cortical atrophy, Chorioretinal atrophy, Optic nerve hypoplasia ORPHA:2177
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Corneal opacity, Hypoplasia of the iris, Ectopia pupillae, Mic... OMIM:175780
Osteogenesis Imperfecta, Type Iv
Blue sclerae OMIM:166220
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, Microphthalmia OMIM:251300
Cousin Syndrome
Microcornea, Microphthalmia OMIM:260660
Cartilage-Hair Hypoplasia
Aplasia/Hypoplasia affecting the eye, Blue sclerae ORPHA:175
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Blue sclerae, Microcornea ORPHA:536467
Focal Dermal Hypoplasia
Ectopia lentis, Corneal opacity, Iris coloboma, Hypoplasia of the iris, Microphthalmia ORPHA:2092
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Trisomy 18
Cataract, Microcornea, Iris coloboma, Microphthalmia ORPHA:3380
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Facial palsy, Optic nerve hypoplasia, Abnormality of the optic disc ORPHA:508498
Cohen Syndrome
Iris coloboma, Microphthalmia ORPHA:193
1Q21.1 Microdeletion Syndrome
Cataract, Iris coloboma, Microphthalmia ORPHA:250989
Spondylodysplastic Ehlers-Danlos Syndrome
Iris coloboma, Corneal opacity, Posterior subcapsular cataract, Megalocornea, Blue sclerae, Optic... ORPHA:536471
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia ORPHA:564
Osteogenesis Imperfecta, Type I
Blue sclerae