Gene Summary

Name:
myosin X
Synonyms:
myosin-X,  D15Ertd600e

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
abnormal digit morphology Myo10tm2(KOMP)Wtsi HOM Early adult 9.06×10-21
abnormal lens morphology Myo10tm2(KOMP)Wtsi HOM   Early adult 1.19×10-07
abnormal retina morphology Myo10tm2(KOMP)Wtsi HOM Early adult 4.58×10-05
fused cornea and lens Myo10tm2(KOMP)Wtsi HOM Early adult 1.39×10-14
abnormal response to new environment Myo10tm2(KOMP)Wtsi HOM Early adult 7.34×10-05
fused phalanges Myo10tm2(KOMP)Wtsi HOM Early adult 9.06×10-21
decreased circulating creatinine level Myo10tm2(KOMP)Wtsi HOM Early adult 1.30×10-05
persistence of hyaloid vascular system Myo10tm2(KOMP)Wtsi HOM Early adult 3.04×10-15
cataract Myo10tm2(KOMP)Wtsi HOM   Early adult 1.19×10-07
abnormal coat/hair pigmentation Myo10tm2(KOMP)Wtsi HOM Early adult 1.78×10-14
abnormal iris morphology Myo10tm2(KOMP)Wtsi HOM   Early adult 5.18×10-06
abnormal tail morphology Myo10tm2(KOMP)Wtsi HOM   Early adult 4.78×10-05
corneal opacity Myo10tm2(KOMP)Wtsi HOM Early adult 5.30×10-13
abnormal cornea morphology Myo10tm2(KOMP)Wtsi HOM Early adult 3.62×10-11
impaired pupillary reflex Myo10tm2(KOMP)Wtsi HOM Early adult 6.91×10-06

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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.

Eye Morphology

Images Slit Lamp

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

DSS Histology

Images

12 Images

Eye Morphology

Images Ophthalmoscopy

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 83 images

View all 40 images

View all 28 images

Human diseases caused by Myo10 mutations

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

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

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

The table below shows human diseases predicted to be associated to Myo10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- and hyperpigmentation, Cho... OMIM:601706
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Short thumb, Chorioretinal coloboma OMIM:274205
Hypomelanosis Of Ito
Radial deviation of finger, Alopecia, Hand polydactyly, Macular hypopigmented whorls, streaks, an... OMIM:300337
Loose Anagen Syndrome
Iris coloboma, Abnormal hair whorl, Abnormal hair morphology ORPHA:168
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Coloboma, Syndactyly, Brachydactyly, Peters anomaly, Clinodac... OMIM:610023
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation, Rod-cone dystrophy OMIM:300719
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Generalized hyperpigmentation, Cataract ORPHA:2253
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Abn... ORPHA:42665
Winchester Syndrome
Carpal osteolysis, Hirsutism, Corneal opacity, Broad metacarpals, Osteolysis involving tarsal bones OMIM:277950
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Dermochondrocorneal Dystrophy
Abnormality of the hand, Corneal dystrophy, Large hands ORPHA:79149
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Abnormality of s... OMIM:300244
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Curry-Jones Syndrome
Hypopigmented skin patches, Finger syndactyly, Foot polydactyly, Broad thumb, Generalized hirsuti... ORPHA:1553
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Holoprosencephaly, Chorioretinal coloboma... OMIM:611638
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia, Chorioretinal coloboma, Optic pit, Iris coloboma OMIM:616428
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Bardet-Biedl Syndrome 18
Cataract, Brachydactyly, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Camptosynpolydactyly, Complex
Nail dysplasia, Polydactyly, Toenail dysplasia, Small nail, Camptodactyly, Syndactyly, Cutaneous ... OMIM:607539
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Abnormal hand morphology, Short foot, Small hand OMIM:300261
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Biemond Syndrome Ii
Preaxial hand polydactyly, Iris coloboma OMIM:210350
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Tremor, Optic disc pallor OMIM:165300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop... ORPHA:1067
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Postaxial polydactyly, Attenuat... OMIM:614500
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... ORPHA:1473
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Hypotriglyceridemia, Retinal atrophy, Corneal opacity, Short long b... ORPHA:85167
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplasia OMIM:606574
Genetic Hyperferritinemia Without Iron Overload
Cataract, Fragile nails, Increased circulating ferritin concentration ORPHA:254704
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Abruzzo-Erickson Syndrome
Coloboma, Microcornea, Short toe, Chorioretinal coloboma, Brachydactyly, Radioulnar synostosis, U... ORPHA:921
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Hypoplasia of the fovea, Iris cyst OMIM:620086
Dermoids Of Cornea
Corneal opacity OMIM:304730
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Alopecia, Osteolysis involving bones of the upper ... ORPHA:88630
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Palmoplantar keratoderma, Triphalangeal thumb, Hyperpigmentation of t... ORPHA:2251
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Uncombable Hair Syndrome 2
Juvenile cataract, Uncombable hair, Pili canaliculi OMIM:617251
Neovascular Glaucoma
Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal... ORPHA:94058
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Coloboma, Bullet-shaped distal phalanx of the hallux, Camptodactyly ... ORPHA:1617
Microphthalmia With Limb Anomalies
Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hy... OMIM:206920
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Erythrokeratodermia Variabilis
Irregular hyperpigmentation, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the ... ORPHA:317
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Polydactyly, Postaxial, Type A1
Nail dysplasia, Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped m... OMIM:174200
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, C... ORPHA:2370
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613801
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Orbital cyst, Orbital encephalocele, Congenital hip dislocation, Ey... OMIM:164180
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Iris hypo... ORPHA:2513
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Developmental cataract, Fair hair OMIM:618808
Macular Dystrophy, Corneal
Recurrent corneal erosions, Macular dystrophy, Punctate opacification of the cornea, Corneal dyst... OMIM:217800
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Retinopathy, Split foot, Cataract OMIM:183800
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Microcornea,... ORPHA:3214
Microphthalmia/Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Corneal opacity, Synostosis of carpal bones, Megalocornea, Micromelia,... ORPHA:2741
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse hair, Sparse axillary hair, Fine ha... ORPHA:189
Mucolipidosis Iv
Optic atrophy, Corneal opacity, Dystonia, Progressive neurologic deterioration, Opacification of ... OMIM:252650
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Diffuse palmoplantar hyperkeratosis, Dystrophic to... OMIM:617294
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Microphthalmia/Coloboma 4
Orbital cyst, Coloboma, Microphthalmia, Microcornea OMIM:251505
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Microphthalmia With Brain And Digit Anomalies
Nail dysplasia, Proximal placement of thumb, Finger syndactyly, Microcornea, Sclerocornea, Chorio... ORPHA:139471
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Nathalie Syndrome
Cataract ORPHA:2663
Linear Verrucous Nevus Syndrome
Short metacarpal, Sparse scalp hair, Abnormal cornea morphology, Cataract, Toe syndactyly, Iris c... ORPHA:2611
Humero-Radial Synostosis
Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Ch... ORPHA:3265
Gómez-López-Hernández Syndrome
Alopecia of scalp, Corneal opacity, Toenail dysplasia, Cognitive impairment ORPHA:1532
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Finger syndactyly, Hand polydactyly, Brachydactyly, C... ORPHA:2377
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Short thumb, Short metacarpal, Chorioretinal coloboma ORPHA:2489
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigmentation of the skin, Hypo... OMIM:619165
Cataract 42
Cataract, Developmental cataract OMIM:115900
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Hereditary Bullous Dystrophy, Macular Type
Short finger, Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Corneal opacity, Atrichia,... ORPHA:1867
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract, Memory impairment OMIM:620312
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Cataract, Hyp... OMIM:310600
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Progressive cataract, Developmental cataract, Duplication involving bones ... OMIM:246000
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Retinal thinning, Genu valgum, Asteroid hyalosis, Epiphyseal dysplasia, Short phalanx of finger, ... OMIM:132450
Prader-Willi Syndrome Due To Imprinting Mutation
Abnormal ulnar metaphysis morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Nar... ORPHA:177910
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Temtamy Syndrome
Clinodactyly of the 5th finger, Short toe, Chorioretinal coloboma, Brachydactyly, Genu varum, Iri... ORPHA:1777
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Triple A Syndrome
Optic atrophy, Abnormality of the hypothenar eminence, Palmoplantar keratoderma, Generalized hype... ORPHA:869
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Decreased HDL cholesterol concentration, Cataract OMIM:618463
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Blue irides OMIM:103500
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma OMIM:120433
Adams-Oliver Syndrome 4
Microphthalmia, Toenail dysplasia, Aplasia of the distal phalanges of the toes, Absent middle pha... OMIM:615297
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Hypopigmented skin patches, Retinal detachment, Abnormal eyelash morph... ORPHA:3437
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Morquio Syndrome C
Corneal opacity OMIM:252300
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614882
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Elevated circulating creatine kinase concentration, Decreased mov... OMIM:609115
Mucolipidosis Type Iii
Abnormal hip bone morphology, Large iliac wing, Corneal opacity, Hypoplastic inferior ilia, Cogni... ORPHA:577
Bardet-Biedl Syndrome 5
Polydactyly, Macular dystrophy, Obesity, Syndactyly, Brachydactyly, Rod-cone dystrophy OMIM:615983
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Macular dots, Retinal thinning, Astigmatism, Abnormal ha... OMIM:270200
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the... ORPHA:2557
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches, Finger syndactyly, Alopecia, Corneal opacity, Congenital hip dislocat... ORPHA:1647
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... OMIM:615113
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hirsutism, Talipes equinovarus, Congenital bilateral hip dislocation ORPHA:85288
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Clinodactyly of the 5th fin... ORPHA:999
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Coloboma, Microcornea, Abnorma... ORPHA:2334
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Iris coloboma OMIM:300915
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Woolly Hair Nevus
Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Congenital po... ORPHA:79414
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabular roof, Co... OMIM:271530
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Depression, Tremor, Intention tre... OMIM:614307
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the hand, Juvenile cataract, Uncombable hair, Abnormality of retinal pigmentation,... ORPHA:1264
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Fingernail dysplasia, Ectopia lentis, Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Synophrys, Thick eyebrow, Radioulnar synostosi... ORPHA:3268
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Hypoplastic acetabulae, Short clavicles, Hypoplastic ilia, Congen... OMIM:169550
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Deviation of finger, Eyelid coloboma, Blepharophimosis, Iris coloboma ORPHA:1104
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy OMIM:121820
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty... ORPHA:93323
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Bardet-Biedl Syndrome 9
Polydactyly, Bone spicule pigmentation of the retina, Astigmatism, Postaxial hand polydactyly, Po... OMIM:615986
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormal... OMIM:251270
Distal Duplication 18Q
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Deviation of finger, ... ORPHA:1716
Oculofaciocardiodental Syndrome
Genu valgum, Cubitus valgus, Hammertoe, Clinodactyly of the 5th finger, Highly arched eyebrow, Re... ORPHA:2712
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Delayed pubic bone ossific... ORPHA:1856
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Postaxial hand polydactyly, Syndactyly OMIM:615938
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Split hand, Sparse scalp hair, Camptodactyly, Sparse eyelashes, 3-4 toe sy... OMIM:225280
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Frontonasal Dysplasia 1
Joint contracture of the hand, Microphthalmia, Radial deviation of finger, Pectoral muscle hypopl... OMIM:136760
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Retinopathy Of Prematurity
Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Retinal atrophy, Corneal opacity, Femoral bowing, Tibial bowing, Sh... OMIM:608940
Monilethrix
Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Osteoporosis-Pseudoglioma Syndrome
Abnormal vitreous humor morphology, Abnormal femoral neck/head morphology, Crumpled long bones, A... ORPHA:2788
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, Scapular winging, Heterochromia iridis, Sy... OMIM:148820
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Ocular anterior segment dysgenesis, Abnormal hair morphology, Hip dysplasia, Short foot, Iris col... OMIM:601427
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Rhizomelia, Broad long bone diaphyses, Acetabular spurs, Attenuation of retina... OMIM:614376
Classic Phenylketonuria
Hypopigmentation of hair, Memory impairment, Depression, Hyperphenylalaninemia, Hypopigmentation ... ORPHA:79254
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Peripheral retinal atrophy, Iris coloboma OMIM:615147
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Upper limb phocomelia, Syndactyly, Small f... ORPHA:294975
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Dementia, Cataract, Retinal degeneration, Psychomotor deteri... OMIM:204200
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the fovea, Hypopi... OMIM:203200
Oculomaxillofacial Dysostosis
Sparse or absent eyelashes, Abnormal eyelash morphology, Corneal opacity, Cognitive impairment, A... ORPHA:1794
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma, Keratitis OMIM:148200
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, Microphthalmia, Microcornea, Epicanthus, Cataract, Upslanted palpebral fissure ORPHA:2528
Anencephaly 2
Short palpebral fissure, Anencephaly, Anophthalmia OMIM:619452
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, Absent fingernail, 2nd-5th toe m... ORPHA:93383
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Joubert Syndrome 15
Preaxial polydactyly, Retinal dystrophy, Coloboma, Retinopathy, Exencephaly OMIM:614464
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Leber Congenital Amaurosis 1
Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessels, Hyperthreon... OMIM:204000
Greig Cephalopolysyndactyly Syndrome
Nail dysplasia, Trigonocephaly, Broad thumb, Syndactyly, Umbilical hernia, Craniosynostosis, Abno... OMIM:175700
Multiple Sulfatase Deficiency
Optic atrophy, Corneal opacity, Broad thumb, Abnormality of retinal pigmentation, Thick eyebrow, ... ORPHA:585
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ocular anterior segment dysgenesis, Microphthalmia, Retinal dysplasia, H... ORPHA:324416
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Aphalangy-Syndactyly-Microcephaly Syndrome
Hypoplastic fingernail, Abnormal metacarpal morphology, Absent toenail, Split foot, Aplasia/Hypop... ORPHA:1113
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Depression, Cognitive impairment, Dementia, Cataract ORPHA:329314
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, Corneal opacity,... OMIM:152950
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Facial hirsutism, Dislocated radial... ORPHA:2839
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Upper eyelid coloboma, Telecanthus, Coloboma, Con... OMIM:167730
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Anophthalmia, Coloboma, 2-3 toe syndactyly, Microcornea, Long eyelash... OMIM:615877
Congenital Disorder Of Glycosylation, Type Id
Nail dysplasia, Clinodactyly of the 5th toe, Optic atrophy, Joint contracture of the hand, Small ... OMIM:601110
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
White Forelock With Malformations
White forelock, Aplasia/Hypoplasia of the distal phalanges of the toes, Poliosis OMIM:277740
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Temtamy Syndrome
Iris coloboma, Highly arched eyebrow, Lens luxation, Short 2nd toe, Ectopia lentis, Chorioretinal... OMIM:218340
Cat-Eye Syndrome
Hip dysplasia, Chorioretinal coloboma, Iris coloboma ORPHA:195
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opaci... OMIM:305390
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Megalocornea, ... OMIM:164900
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... OMIM:102510
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Pierpont Syndrome
Brachycephaly, Short finger, High anterior hairline, Microphthalmia, Deep palmar crease, Telecant... OMIM:602342
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Abnormal fingernail morphology, Aminoaciduria ORPHA:2278
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Absent fingernail, Sh... ORPHA:140908
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Alopecia, Thin eyebrow, Cataract, Abno... ORPHA:3242
Anterior Segment Dysgenesis 2
Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye apl... OMIM:610256
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Talipes equino... OMIM:613885
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Abnormal femur morphology, Lower limb undergrowth, Abnormal epiphysis morphology ORPHA:2310
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Coloboma, Corneal opacity, Elevated circulating creatine kinase concentration... OMIM:613153
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly, Hydrocephalus, Coloboma, Obesity ORPHA:141333
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Hartsfield Syndrome
Microphthalmia, Telecanthus, Encephalocele, Split hand, Lobar holoprosencephaly, Ptosis, Downslan... ORPHA:2117
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Remnants of the hyaloid vascular system, Ret... OMIM:221900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Talipes equinovarus, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic di... OMIM:616171
Stickler Syndrome, Type Iv
Astigmatism, Genu valgum, Flat capital femoral epiphysis, Chorioretinal degeneration, Hypoplastic... OMIM:614134
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Shallow anterior chamber, Chorioretinal coloboma, Optic disc coloboma, Flat cornea, ... OMIM:602499
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Sparse or absent eyelashes, Patchy atrophy of the retinal pigment epitheliu... ORPHA:1433
Cat-Eye Syndrome (Type I)
Iris coloboma DECIPHER:42
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Macular exudate, Retinal neovascularization, Chorioretina... ORPHA:891
Multicentric Carpotarsal Osteolysis Syndrome
Wrist swelling, Metacarpal osteolysis, Carpal osteolysis, Corneal opacity, Ulnar deviation of the... OMIM:166300
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Sparse eyebrow, Sparse scalp hair, Iris coloboma ORPHA:66629
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Microphthalmia, Isolated 4
Postaxial polydactyly, Coloboma, Microphthalmia OMIM:613094
Trisomy 13
Optic atrophy, Bilateral single transverse palmar creases, Microphthalmia, Anophthalmia, Abnormal... ORPHA:3378
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Alopecia, Mixed hypo- and hyperpigmentatio... ORPHA:79397
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Microphthalmia, Aplastic/hypoplastic toenail, Absent toe, Abnormalit... ORPHA:974
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Cohen Syndrome
Optic atrophy, Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Thick hair, Sandal gap,... ORPHA:193
Albinism-Deafness Syndrome
Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism OMIM:300700
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Phenylketonuria
Irritability, Depression, Generalized hypopigmentation, Elevated urinary gamma-glutamylphenylalan... OMIM:261600
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Exfoliation Syndrome
Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in... OMIM:177650
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, 2-3 toe cutaneous syndactyly, Small nail, Sparse scalp hair, Patchy alopecia, 4-5 to... OMIM:613573
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Corneal opacity, Abnormality of retinal pigmentation, Cataract, A... ORPHA:290
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Arachnodactyly, Abnormality of retinal pigmentation, Cataract, L... ORPHA:171844
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Chorioretinal coloboma, Talipes equinovarus, Iris coloboma OMIM:617662
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Premature graying of hair, Macular dystrophy, Hypopigmentation of hair, Hypopigmen... ORPHA:33445
Mulibrey Nanism
Astigmatism, Single transverse palmar crease, Corneal dystrophy, Thickened cortex of long bones, ... OMIM:253250
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Hyperornithinemia, Chorioretinal degeneration, Abnormal hair mor... ORPHA:414
Carpenter Syndrome
Polydactyly, Turricephaly, Genu valgum, Talipes equinovarus, Finger syndactyly, Cloverleaf skull,... ORPHA:65759
Oculocutaneous Albinism Type 4
Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ... ORPHA:79435
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia, Retinal dysplasia OMIM:614830
Autosomal Recessive Stickler Syndrome
Astigmatism, Genu valgum, Retinal detachment, Vitreoretinopathy, Abnormal epiphysis morphology, E... ORPHA:250984
2Q31.1 Microdeletion Syndrome
Sandal gap, Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology... ORPHA:251014
Multiple Epiphyseal Dysplasia, Beighton Type
Retinal thinning, Flattened humeral heads, Asteroid hyalosis, Flat capital femoral epiphysis, Red... ORPHA:166011
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Crystalline corneal dystroph... ORPHA:41751
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia, Coloboma, 2-3 toe syndactyly, Postaxial hand polydactyly, Post... OMIM:615665
Microphthalmia, Syndromic 12
Microphthalmia, Neonatal death, Anophthalmia OMIM:615524
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Hyperlipidemia, Retinopathy, Iris hypopigmentation, Partia... ORPHA:79476
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Pierpont Syndrome
Brachycephaly, Short finger, High anterior hairline, Microphthalmia, Deep palmar crease, Telecant... ORPHA:487825
Crouzon Syndrome
Hypopigmented skin patches, Optic atrophy, Melanocytic nevus, Conjunctivitis, Iris coloboma ORPHA:207
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Hypopigmentation of the skin, Abs... ORPHA:89838
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Coloboma, Microphthalmia OMIM:274270
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Cataract OMIM:614284
Acro-Renal-Ocular Syndrome
Sandal gap, Short humerus, Hypoplasia of the ulna, Cataract, Preaxial hand polydactyly, Toe synda... ORPHA:959
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Flynn-Aird Syndrome
Alopecia of scalp, Dementia, Cataract, Rod-cone dystrophy, Alopecia OMIM:136300
Genitourinary And/Or Brain Malformation Syndrome
Short palpebral fissure, Astigmatism, Ptosis, Acrania, Holoprosencephaly, Epicanthus inversus, Ep... OMIM:618820
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Frontofacionasal Dysplasia
Brachycephaly, Microphthalmia, Upper eyelid coloboma, Encephalocele, Telecanthus, Microcornea, Li... ORPHA:1791
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals, Abnormal retinal morphology OMIM:219750
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Retinal fold, Exudative retinal detachment, Subretinal fluid ORPHA:209956
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short long bone, Corneal opacity, Coarse metaphyseal trabecularization, Metaphyseal widening, Lim... OMIM:618961
Cerebrooculonasal Syndrome
Brachycephaly, Anophthalmia, Postaxial hand polydactyly, Sparse eyelashes, Sparse eyebrow, Epican... ORPHA:66625
Bardet-Biedl Syndrome 4
Polydactyly, Obesity, Syndactyly, Brachydactyly, Retinal degeneration, Rod-cone dystrophy OMIM:615982
Harel-Yoon Syndrome
Optic atrophy, Corneal opacity, Dystonia, Developmental cataract, Hip dysplasia OMIM:617183
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Narrow palpebral fissure, Highly arched eyebrow, Decreased body weight, Frontal bo... OMIM:600325
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Anophthalmia, Synophrys, Long eyelashes, Thick eyebrow, Low anterior hairline ORPHA:411986
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Retinal dystrophy ORPHA:3156
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Short first metatarsal, Single transverse palmar crease, Abnormal... OMIM:601957
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... OMIM:120200
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Downslanted palpebral fissures, Clinodactyly of the 5th finger, Epicanthus ORPHA:238446
Bartsocas-Papas Syndrome
Popliteal pterygium, Hypoplastic toenails, Sparse or absent eyelashes, Finger syndactyly, Corneal... ORPHA:1234
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I ... OMIM:620058
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Retinal Dystrophy And Obesity
Astigmatism, Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood ve... OMIM:616188
Zika Virus Disease
Wrist swelling, Chorioretinal atrophy, Abnormal optic disc morphology, Conjunctivitis, Lens sublu... ORPHA:448237
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Corneal opacity, Curly hair, Sparse eyela... OMIM:602400
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... ORPHA:1106
Developmental And Epileptic Encephalopathy 35
Cataract, Irritability, Limb tremor OMIM:616647
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Microphthalmia, Macular atrophy OMIM:267760
1Q21.1 Microduplication Syndrome
Cataract, Hip dysplasia, Attention deficit hyperactivity disorder, Talipes equinovarus, Hip dislo... ORPHA:250994
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphthalmos, Macular atro... OMIM:212550
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Eem Syndrome
Macular dystrophy, Finger syndactyly, Sparse scalp hair, Ectrodactyly, Absent eyebrow, Retinopath... ORPHA:1897
Oculocutaneous Albinism Type 1
Optic nerve misrouting, Iris transillumination defect, Abnormal morphology of the choroidal vascu... ORPHA:352731
Late-Onset Retinal Degeneration
Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina... ORPHA:67042
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Absent fingernail... OMIM:609638
Cherubism
Marcus Gunn pupil, Macular scar, Optic neuropathy OMIM:118400
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Absent distal phalanges, Corneal opacity, 2-5 finger cut... OMIM:619339
Warburg Micro Syndrome 1
Optic atrophy, Microphthalmia, Microcornea, Ptosis, Failure to thrive, Developmental cataract, Ov... OMIM:600118
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Retinal coloboma, Obesity, Rod-cone dystrophy OMIM:601794
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Branchio-Oculo-Facial Syndrome
Premature graying of hair, Coloboma, Microcornea, Cataract, Fingernail dysplasia, Preaxial hand p... ORPHA:1297
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Craniosynostosis, Hydrocephalus, Septo-optic dysplasia, Frontal bo... ORPHA:1528
Cerebrooculonasal Syndrome
Brachycephaly, Proboscis, Encephalocele, Anophthalmia, Hydrocephalus, Optic nerve hypoplasia, Pos... OMIM:605627
Microphthalmia, Syndromic 16
Microphthalmia, Sclerocornea, Anophthalmia, Ankyloblepharon OMIM:611038
Duane Retraction Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Hypoplasia of the radius, Triphalangeal ... ORPHA:233
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Olmsted Syndrome 1
Nail dysplasia, Nail dystrophy, Corneal opacity, Autoamputation of digits, Sparse hair, Subungual... OMIM:614594
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Clouston Syndrome
Nail dysplasia, Abnormality of the hand, Nail dystrophy, Small nail, Brittle hair, Absent pubic h... OMIM:129500
Curry-Jones Syndrome
High anterior hairline, Microphthalmia, Unicoronal synostosis, Bicoronal synostosis, Triphalangea... OMIM:601707
Focal Dermal Hypoplasia
Hypoplasia of the iris, Abnormality of the nail, Alopecia, Finger syndactyly, Short clavicles, Sp... ORPHA:2092
Greig Cephalopolysyndactyly Syndrome
Telecanthus, Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Frontal b... ORPHA:380
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Incontinentia Pigmenti
Irregular hyperpigmentation, Corneal opacity, Broad nail, Cognitive impairment, Abnormal choriore... ORPHA:464
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Alopecia of scalp, Sparse eyelashes, Cafe-au-lait spot, Sparse eyebrow, Adducted thumb, Iris colo... OMIM:618874
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Delayed pubic bone ossification, Retinal detachment, Short lo... ORPHA:93296
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Telecanthus, Abnormal hair morphology, Ethmoidal encephalocele, Optic n... OMIM:607597
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Kapur-Toriello Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Joint contracture of the... OMIM:244300
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Optic d... ORPHA:263479
Craniodigital-Intellectual Disability Syndrome
Brachycephaly, Thick hair, Spina bifida occulta, Finger syndactyly, Long eyelashes, Abnormal hair... ORPHA:1514
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Abnormal circulating cholesterol concentration, Cognitive impairment, Upper limb a... OMIM:270800
Walker-Warburg Syndrome
Optic atrophy, Microphthalmia, Retinal dystrophy, Retinal dysplasia, Retinal detachment, Hydrocep... ORPHA:899
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Short palm, Cataract, Talipes equinovarus, Sm... ORPHA:85172
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret... OMIM:612109
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Developmental And Epileptic Encephalopathy 73
Cataract, Irritability, Hip dysplasia OMIM:618379
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Hypoplastic thumbnail, Osseous finger syndactyly, Triangular shaped distal phalanx of the thumb, ... ORPHA:370010
Sclerosteosis
Optic atrophy, Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved dista... ORPHA:3152
Bresek Syndrome
Optic nerve hypoplasia, Iris coloboma, Postaxial hand polydactyly, Alopecia ORPHA:85284
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Microphthalmia, Persistent pupillary membrane, Sparse hair, Fine ha... OMIM:257850
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Aniridia, Anophthalmia, Abnormal size of the palpebral fissures, Corneal dystrophy... ORPHA:1101
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Sandestig-Stefanova Syndrome
Rocker bottom foot, Bilateral single transverse palmar creases, Microphthalmia, Small for gestati... OMIM:618804
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614876
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation, Corneal opacity, Palmoplantar keratoderma ORPHA:578
Congenital Hydrocephalus
Optic atrophy, Iris coloboma ORPHA:2185
Microphthalmia/Coloboma 9
Macular coloboma, Ocular anterior segment dysgenesis, Retinal detachment, Microcornea, Sclerocorn... OMIM:615145
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Nathalie Syndrome
Cataract OMIM:255990
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Short metatarsal, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanced os... OMIM:614613
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Nevus Comedonicus Syndrome
Preaxial polydactyly, Abnormal hair morphology, Finger syndactyly, Cataract, Toe syndactyly ORPHA:64754
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Cousin Syndrome
Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl... OMIM:260660
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Martsolf Syndrome 2
Camptodactyly, Camptodactyly of finger, Developmental cataract, Cataract, Overlapping toe OMIM:619420
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Clinodactyly of the 5th finger, Telecanthus, Coloboma, ... ORPHA:2399
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Microphthalmia, Clinodactyly of the 5th finger, Generalized hypopi... OMIM:617306
3Q29 Microduplication Syndrome
Aniridia, Sandal gap, Camptodactyly of toe, Sclerocornea, Cataract, Toe syndactyly, Iris coloboma ORPHA:251038
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches, Abnormal thumb morphology, Abnormality of the wrist, Proximal placeme... ORPHA:1825
Trisomy 1Q
Anophthalmia, Hydrocephalus, Frontal bossing, Downslanted palpebral fissures, Arachnodactyly, Apl... ORPHA:261344
Usher Syndrome Type 3
Depression, Iris hypopigmentation, Astigmatism, Cataract ORPHA:231183
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Oculocutaneous Albinism Type 2
Optic nerve misrouting, Macular hypopigmentation, Iris transillumination defect, Hypopigmentation... ORPHA:79432
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
X-Linked Recessive Ocular Albinism
Astigmatism, Giant melanosomes in melanocytes, Iris hypopigmentation, Hypoplasia of the fovea, Fr... ORPHA:54
Sialidosis Type 2
Abnormal macular morphology, Tremor, Corneal opacity ORPHA:87876
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome