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
decreased circulating creatinine level Myo10tm2(KOMP)Wtsi HOM Early adult 1.30×10-05
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
abnormal coat/hair pigmentation Myo10tm2(KOMP)Wtsi HOM Early adult 1.78×10-14
abnormal lens morphology Myo10tm2(KOMP)Wtsi HOM   Early adult 1.19×10-07
abnormal tail morphology Myo10tm2(KOMP)Wtsi HOM   Early adult 4.78×10-05
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
fused phalanges Myo10tm2(KOMP)Wtsi HOM Early adult 9.06×10-21
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
abnormal digit morphology Myo10tm2(KOMP)Wtsi HOM Early adult 9.06×10-21
abnormal retina morphology Myo10tm2(KOMP)Wtsi HOM Early adult 4.58×10-05
abnormal iris morphology Myo10tm2(KOMP)Wtsi HOM   Early adult 5.18×10-06
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.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

DSS Histology

Images

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Anti-nuclear antibody assay

Images

6 Images

Eye Morphology

Images Slit Lamp

14 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
Microcornea, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Iris coloboma, Whit... OMIM:601706
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Short thumb, Chorioretinal coloboma OMIM:274205
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Macular hyperpigmented dermopathy, Abnormal pelvic girdle bone mo... ORPHA:2779
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cognitive impairment, Brachydactyly, Retinal dystrophy, Cataract OMIM:615995
Loose Anagen Syndrome
Iris coloboma, Abnormal hair morphology, Abnormal hair whorl ORPHA:168
Hypomelanosis Of Ito
Alopecia, Macular hypopigmented whorls, streaks, and patches, Syndactyly, Iris coloboma, Cataract... OMIM:300337
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Syndactyly, Coloboma, Peters anomaly, Iris coloboma, Clinodactyly, Ocular anterior... OMIM:610023
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Cataract, Rod-cone dystrophy OMIM:300719
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Generalized hyperpigmentation, Cataract ORPHA:2253
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of the skin, Hypopigmentation of hair, Whi... ORPHA:42665
Winchester Syndrome
Broad metacarpals, Corneal opacity, Hirsutism, Carpal osteolysis, Osteolysis involving tarsal bones OMIM:277950
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Camptodactyly of toe, Camptodactyly of fin... OMIM:300244
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorior... OMIM:611638
Dermochondrocorneal Dystrophy
Abnormality of the hand, Large hands, Corneal dystrophy ORPHA:79149
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Curry-Jones Syndrome
Generalized hirsutism, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic disc colobo... ORPHA:1553
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Camptosynpolydactyly, Complex
Nail dysplasia, Toenail dysplasia, Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly, ... OMIM:607539
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Aniridia 3
Cataract OMIM:617142
Woolly Hair
Abnormality of hair texture, Abnormal pupil morphology, Woolly hair, Brittle hair, Sparse body ha... ORPHA:170
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Aggressive behavior, Fair hair, Developmental cataract, Increased LDL cholesterol concentration OMIM:618808
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Biemond Syndrome Ii
Iris coloboma, Preaxial hand polydactyly OMIM:210350
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma OMIM:616428
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... OMIM:614500
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract, Tremor OMIM:165300
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Abruzzo-Erickson Syndrome
Short toe, Brachydactyly, Microcornea, Coloboma, Radioulnar synostosis, Ulnar deviation of finger... ORPHA:921
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Fragile nails, Cataract ORPHA:254704
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Griscelli Syndrome Type 3
Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79478
Dermoids Of Cornea
Corneal opacity OMIM:304730
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Sparse hair, Alopecia, Onychogryposis of fingernail, Camptodactyly of finger, Fingernail dysplasi... ORPHA:2251
Uncombable Hair Syndrome 2
Uncombable hair, Juvenile cataract, Pili canaliculi OMIM:617251
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma OMIM:610202
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Retinal thinning, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long... ORPHA:85167
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Long fingers, Coloboma, Cata... ORPHA:1617
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Gombo Syndrome
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia OMIM:233270
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Microphthalmia With Limb Anomalies
Abnormal hair morphology, Tibial bowing, Talipes equinovarus, Short palpebral fissure, Hand oligo... OMIM:206920
Erythrokeratodermia Variabilis
Corneal opacity, Generalized hirsutism, Hypermelanotic macule, Irregular hyperpigmentation, Alope... ORPHA:317
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation, Short distal phalanx of finger, Aplasia/Hypo... ORPHA:2513
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Clinodactyly of the 5th finger, Brachydactyly, Abnormal metacarpal morphology, A... ORPHA:2370
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Retinopathy, Hand monodactyly, Cataract, Split hand OMIM:183800
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Alopecia, Orbital cyst, Congenital hip dislocation, Anophthalmia, Micropht... OMIM:164180
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... OMIM:217800
Kahrizi Syndrome
Iris coloboma, Cataract, Elbow flexion contracture OMIM:612713
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Spastic Paraparesis And Deafness
Tremor, Cataract OMIM:312910
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Lateral humeral condyle aplasia, Camptodactyly of finger, Megalocornea, Micromel... ORPHA:2741
Coats Disease
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... ORPHA:190
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Microcornea, Iris hypopigmentation, Iris coloboma, Freckling, Anterior ... ORPHA:3214
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:613801
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Morm Syndrome
Aggressive behavior, Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Cataract, Elbow flexion contracture ORPHA:171860
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Trichomegaly
Long eyelashes, Cataract OMIM:190330
Dwarfism With Stiff Joints And Ocular Abnormalities
Delayed ossification of carpal bones, Retinal detachment, Short phalanx of finger, Short lower li... OMIM:127200
Mucolipidosis Iv
Corneal opacity, Retinal degeneration, Opacification of the corneal stroma, Progressive neurologi... OMIM:252650
Humero-Radial Synostosis
Elbow ankylosis, Abnormality of the wrist, Iris coloboma, Tarsal synostosis, Aplasia/Hypoplasia o... ORPHA:3265
Leg, Absence Deformity Of, With Congenital Cataract
Duplication involving bones of the feet, Developmental cataract, Progressive cataract, Optic nerv... OMIM:246000
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Hypopigmentation of the skin, Sparse body hair, Diffuse palmoplantar hyperkeratosis, On... OMIM:617294
Hidrotic Ectodermal Dysplasia
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... ORPHA:189
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microphthalmia, Microcornea, Coloboma OMIM:251505
Microphthalmia With Brain And Digit Anomalies
Nail dysplasia, Finger syndactyly, Microcornea, Iris coloboma, Cataract, Postaxial foot polydacty... ORPHA:139471
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Abnormal cornea morphology, Iris coloboma, Cataract, Short metacarpal, Toe syn... ORPHA:2611
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Iris coloboma, Cataract, Macular atrophy, Chorioretinal coloboma OMIM:212550
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Short metacarpal, Short thumb, Chorioretinal coloboma ORPHA:2489
Laurence-Moon Syndrome
Brachydactyly, Bilateral single transverse palmar creases, Iris coloboma, Cataract, Hand polydact... ORPHA:2377
Nathalie Syndrome
Cataract ORPHA:2663
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Brachydactyly, Ectopia lentis OMIM:613195
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris tran... OMIM:619165
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Atrichia, Corneal opacity, Alopecia, Tapered finger, Cataract, ... ORPHA:1867
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Ankyloblepharon, Microphthalmia ORPHA:85275
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Gómez-López-Hernández Syndrome
Corneal opacity, Cognitive impairment, Toenail dysplasia, Alopecia of scalp ORPHA:1532
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Brachydactyly, Short phalanx of finger, Retinal thinning, Asteroid hyalosis... OMIM:132450
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Iris coloboma, Microcornea, Peripheral retinal atrophy OMIM:615147
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Triple A Syndrome
Optic atrophy, Iris coloboma, Generalized hyperpigmentation, Abnormality of the hypothenar eminen... ORPHA:869
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic ... ORPHA:137902
Temtamy Syndrome
Short toe, Clinodactyly of the 5th finger, Brachydactyly, Genu varum, Iris coloboma, Chorioretina... ORPHA:1777
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Morquio Syndrome C
Corneal opacity OMIM:252300
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Small hand, Hypopigmentation of hair, Abnormal ulnar metaphysis mor... ORPHA:177910
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Retinal dystrophy, Ir... ORPHA:231736
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Coloboma, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Decreased movement range in interphalangeal joints, Elevated circulating creatine kinase concentr... OMIM:609115
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Vogt-Koyanagi-Harada Disease
Sparse scalp hair, Abnormal eyebrow morphology, Cognitive impairment, Poliosis, Retinal detachmen... ORPHA:3437
Meckel Syndrome, Type 8
Talipes equinovarus, Anophthalmia, Polydactyly, Postaxial hand polydactyly, Microphthalmia, Encep... OMIM:613885
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma ORPHA:2921
Adams-Oliver Syndrome 4
Hypoplastic toenails, Short toe, Absent middle phalanx of the 3rd toe, Toenail dysplasia, Aplasia... OMIM:615297
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Mucolipidosis Type Iii
Corneal opacity, Large iliac wing, Cognitive impairment, Abnormal hip bone morphology, Hypoplasti... ORPHA:577
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Corneal opacity, Alopecia, Congenital hip dislocation, Abnormal f... ORPHA:1647
Bardet-Biedl Syndrome 5
Rod-cone dystrophy, Syndactyly, Brachydactyly, Polydactyly, Macular dystrophy, Obesity OMIM:615983
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Sparse hair, Abnormality of the hand, Brachydactyly, Short 5... ORPHA:1264
Microphthalmia, Isolated 5
Foveoschisis, Abnormal foveal morphology, Rod-cone dystrophy, Cystoid macular edema, Optic disc d... OMIM:611040
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614882
Mietens Syndrome
Coxa vara, Corneal opacity, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplas... ORPHA:2557
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... OMIM:615113
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis, Fingernail dysplasia ORPHA:1259
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Metaphyseal dysplasia, Lens subluxation, Retinal detachment, Irregular epiphys... OMIM:157151
Ermine Phenotype
Clinodactyly of the 5th finger, Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of... ORPHA:999
Oculofaciocardiodental Syndrome
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Flexion contracture of the 2nd toe, Retinal d... ORPHA:2712
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Microphthalmia OMIM:248110
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Cataract, Congenital bilateral hip dislocation, Talipes equinovarus ORPHA:85288
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Radioulnar synostosis, Synophrys, Abnormality of t... ORPHA:3268
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Frontonasal Dysplasia 1
Joint contracture of the hand, Brachydactyly, Coloboma, Postaxial hand polydactyly, Epicanthus, C... OMIM:136760
Distal Trisomy 18Q
Clinodactyly of the 5th finger, Arachnodactyly, Camptodactyly of finger, Abnormal hair pattern, B... ORPHA:1716
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Anxiety, Optic atrophy, Cataract,... OMIM:204200
Anophthalmia Plus Syndrome
Anophthalmia, Deviation of finger, Iris coloboma, Eyelid coloboma, Spina bifida, Blepharophimosis ORPHA:1104
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Microphthalmia, Retinal detachment, Retinal dystrophy, Optic... OMIM:251270
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Postaxial polydactyly, Brachydactyly, Polydactyly, Synd... OMIM:615986
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Small hand, Cataract, Short foot, Abnormal hand morphology OMIM:300261
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Temtamy Syndrome
Talipes equinovarus, Lens luxation, Brachydactyly, Iris coloboma, Hip dislocation, Short 2nd toe,... OMIM:218340
Pelvis-Shoulder Dysplasia
Short clavicles, Clinodactyly of the 5th finger, Hypoplastic ilia, Congenital hip dislocation, Op... OMIM:169550
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Cognitive impairment, Ab... ORPHA:573
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Waardenburg Syndrome, Type 2A
Hypoplastic iris stroma, Numerous pigmented freckles, Partial albinism, Albinism, White eyebrow, ... OMIM:193510
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Scheie Syndrome
Corneal opacity, Genu valgum, Retinal degeneration OMIM:607016
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Abnormal hair morphology, Iris coloboma, Short foot, Ocular anterior segment dysgenesis, Hip dysp... OMIM:601427
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Corneal opacity, Exudative vitreoretinopathy, Metaphyseal ... ORPHA:2788
Waardenburg Syndrome, Type 3
Carpal synostosis, Blue irides, Joint contracture of the hand, Cutaneous finger syndactyly, Scapu... OMIM:148820
Gorlin Syndrome
Arachnodactyly, Brachydactyly, Iris coloboma, Cataract, Melanocytic nevus, Palmar pits ORPHA:377
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Anonychia, Brachyda... OMIM:613005
Olmsted Syndrome 1
Nail dysplasia, Alopecia universalis, Corneal opacity, Sparse hair, Subungual hyperkeratosis, Opa... OMIM:614594
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Anencephaly 2
Anencephaly, Short palpebral fissure, Anophthalmia OMIM:619452
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Coloboma, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalm... ORPHA:324416
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Hypoplastic toenails, Toe syndactyly, Split foot, Camptodactyly o... ORPHA:1113
Congenital Disorder Of Glycosylation, Type Id
Nail dysplasia, Talipes equinovarus, Joint contracture of the hand, Adducted thumb, Long fingers,... OMIM:601110
Oculomaxillofacial Dysostosis
Corneal opacity, Adducted thumb, Aplasia/Hypoplasia of the eyebrow, Cognitive impairment, Camptod... ORPHA:1794
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration OMIM:618195
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Epiretinal membrane, Conjunctival hyperemia OMIM:148200
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Abnormal hip bone morphology, Small for gestational age, Syndactyly, Polyd... ORPHA:294975
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, Whi... OMIM:172800
Martsolf Syndrome 2
Overlapping toe, Camptodactyly of finger, Camptodactyly, Cataract, Developmental cataract OMIM:619420
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Microcornea, Epicanthus, Cataract, Microphthalmia, Brachycephaly ORPHA:2528
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... OMIM:152950
Tietz Albinism-Deafness Syndrome
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation OMIM:103500
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Partial duplication of eyebrows, Long eyelashes, 2-4 finger syndactyly, 2-3 toe syndactyly OMIM:227210
Multiple Sulfatase Deficiency
Corneal opacity, Abnormality of retinal pigmentation, Thick eyebrow, Broad hallux phalanx, Coarse... ORPHA:585
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Pierpont Syndrome
Failure to thrive, Unilateral narrow palpebral fissure, Short toe, Decreased body weight, Promine... OMIM:602342
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Acetabular spurs, Supernumerary nipple, Metaphyseal widening, Brachydactyly, Attenuation of retin... OMIM:614376
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly, Coloboma, Microphthalmia, Obesity ORPHA:141333
Pelvis-Shoulder Dysplasia
Dislocated radial head, Talipes equinovarus, Facial hirsutism, Retinal coloboma, Aplasia/Hypoplas... ORPHA:2839
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Megalocornea, Opacification of the co... OMIM:164900
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea, Fre... OMIM:203200
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Leber Congenital Amaurosis 1
Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fundus atrophy, ... OMIM:204000
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Microphthalmia, Peripheral retinal avascularization, Falciform retin... OMIM:305390
Retinopathy, Pigmentary, And Mental Retardation
Arachnodactyly, Cataract, Pigmentary retinopathy, Narrow palm OMIM:268050
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration OMIM:614292
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Sparse eyebrow, Dolichocephaly, Absent lacrimal p... OMIM:167730
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cat-Eye Syndrome
Iris coloboma, Hip dysplasia, Chorioretinal coloboma ORPHA:195
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... OMIM:193230
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, 2-3 toe syndactyly, Ectopia pupillae, Anophthalmia, Microcornea, Coloboma, Epica... OMIM:615877
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Neovascular Glaucoma
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Abnormal anterior cham... ORPHA:94058
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Sparse hair, Supernumerary nipple, Sparse or absent eyelashe... ORPHA:1433
Renpenning Syndrome
Abnormal hairshaft morphology, Clinodactyly of the 5th finger, Alopecia, Thin eyebrow, Abnormal t... ORPHA:3242
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Aminoaciduria, Abnormal fingernail morphology ORPHA:2278
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Absence Deformity Of Leg-Cataract Syndrome
Lower limb undergrowth, Abnormality of femur morphology, Abnormal epiphysis morphology, Cataract ORPHA:2310
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Elevated circulating creatine kinase concentration, Cataract, Retinal dysplasia OMIM:613154
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Low anterior hairline, Retinal detachment, Elevated circulating creatine kinase ... OMIM:613153
Sjogren-Larsson Syndrome
Macular degeneration, Opacification of the corneal epithelium, Retinal thinning, Astigmatism, Ret... OMIM:270200
Hartsfield Syndrome
Intrauterine growth retardation, Craniosynostosis, Downslanted palpebral fissures, Telecanthus, A... ORPHA:2117
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Urocanase Deficiency
Tremor, Aggressive behavior, Fair hair, Blue irides OMIM:276880
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Sparse scalp hair, Joint contracture of the hand, Sparse eyebrow, Sparse eyelashes, Syndactyly, C... OMIM:225280
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Goldberg-Shprintzen Megacolon Syndrome
Sparse scalp hair, Iris coloboma, Finger syndactyly, Sparse eyebrow ORPHA:66629
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Posterior s... OMIM:610256
Adams-Oliver Syndrome
Hydrocephalus, Sparse hair, Alopecia, Abnormality of the upper limb, Cataract, Microphthalmia, Ga... ORPHA:974
Phenylketonuria
Fair hair, Blue irides, Self-mutilation, Generalized hypopigmentation, Anxiety, Maternal hyperphe... OMIM:261600
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Microphthalmia, Rhegmatogenous retinal detachment, Peripheral retinal avascu... ORPHA:891
White Forelock With Malformations
Poliosis, White forelock, Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:277740
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Retinal dysplasia, Microphthalmia OMIM:614830
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Hypoplasia of the fovea, Peters anomaly, Rieger anomaly, Hypo... OMIM:604229
Cat-Eye Syndrome (Type I)
Iris coloboma DECIPHER:42
Microphthalmia, Isolated 4
Coloboma, Postaxial polydactyly, Microphthalmia OMIM:613094
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Opacification o... OMIM:136120
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly OMIM:185900
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Ulnar deviation of the hand, Metatarsal osteolysis, Bilateral elbow dislocations... OMIM:166300
Trisomy 13
Ectrodactyly, Calvarial skull defect, Anophthalmia, Bilateral single transverse palmar creases, P... ORPHA:3378
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, Hypoplastic toenails, Sparse scalp hair, 2-3 toe cutaneous syndactyly, Patchy alopeci... OMIM:613573
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Cataract, Abnormal metaphysis morphology, A... ORPHA:290
Frontofacionasal Dysplasia
Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Limbal dermoid,... ORPHA:1791
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Duane Retraction Syndrome
Hypoplastic iris stroma, Aplasia/Hypoplasia of the thumb, Abnormal pupil morphology, Irregular hy... ORPHA:233
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Dementia, Cataract, Cognitive impairment ORPHA:329314
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Arachnodactyly, Retinal detac... ORPHA:171844
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Classic Phenylketonuria
Self-injurious behavior, Hypopigmentation of the skin, Mental deterioration, Hypopigmentation of ... ORPHA:79254
Cohen Syndrome
Low anterior hairline, Thick eyebrow, Abnormality of retinal pigmentation, Clinodactyly of the 5t... ORPHA:193
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma, Failure to thrive, Microphthalmia OMIM:274270
Mulibrey Nanism
Pigmentary retinopathy, Astigmatism, Single transverse palmar crease, Iris coloboma, Corneal dyst... OMIM:253250
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Coxa vara, Retinal thinning, Flat capital femoral epiphysis, Metaphyseal ... ORPHA:166011
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Generalized hyperpigmentat... ORPHA:33445
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Retinal detachment, Vitreoretinopathy, Astigmatism, Genu valgum, Abnormal e... ORPHA:250984
Acro-Renal-Ocular Syndrome
Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Cataract, Sandal gap,... ORPHA:959
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Genitourinary And/Or Brain Malformation Syndrome
Acrania, Short palpebral fissure, Upslanted palpebral fissure, Holoprosencephaly, Syndactyly, Ast... OMIM:618820
Flynn-Aird Syndrome
Rod-cone dystrophy, Alopecia, Alopecia of scalp, Cataract, Dementia OMIM:136300
Carpenter Syndrome
Abnormal cornea morphology, Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Sy... ORPHA:65759
Pierpont Syndrome
Short toe, Prominent fingertip pads, Small for gestational age, Deep palmar crease, Excessive wri... ORPHA:487825
Crouzon Syndrome
Optic atrophy, Iris coloboma, Melanocytic nevus, Conjunctivitis, Hypopigmented skin patches ORPHA:207
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity, Metaphyseal widening, Brachydactyly, Limb undergrowth, Coarse metaphyseal trabec... OMIM:618961
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperp... ORPHA:89838
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Hip dislocation, Cataract OMIM:212540
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Joint Laxity, Short Stature, And Myopia
Iris coloboma, Retinal detachment, Talipes equinovarus, Chorioretinal coloboma OMIM:617662
2Q31.1 Microdeletion Syndrome
Optic disc coloboma, Tapered finger, Abnormality of fibula morphology, Sandal gap, Hypoplastic to... ORPHA:251014
Curry-Jones Syndrome
Hirsutism, Craniosynostosis, Syndactyly, Duplication of thumb phalanx, Cutaneous syndactyly of to... OMIM:601707
Joubert Syndrome 22
2-3 toe syndactyly, Coloboma, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthal... OMIM:615665
Microphthalmia With Limb Anomalies
Hydrocephalus, True anophthalmia, Abnormality of the upper limb, Optic atrophy, Sandal gap, Bowin... ORPHA:1106
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Hyperornithinemia, Chorioretinal hyperpigmentation, Aminoaciduria, Abnormal... ORPHA:414
Idiopathic Uveal Effusion Syndrome
Retinal fold, Microphthalmia, Subretinal fluid, Exudative retinal detachment ORPHA:209956
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Cerebrooculonasal Syndrome
Sparse eyebrow, Upslanted palpebral fissure, Sparse eyelashes, Anophthalmia, Postaxial hand polyd... ORPHA:66625
Senior-Loken Syndrome
Cone-shaped epiphysis, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Aminopterin Syndrome Sine Aminopterin
Intrauterine growth retardation, Decreased body weight, Joint contracture of the hand, Arachnodac... OMIM:600325
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc colob... OMIM:120200
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Eem Syndrome
Sparse scalp hair, Ectrodactyly, Abnormality of retinal pigmentation, Absent eyebrow, Sparse body... ORPHA:1897
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy, Syndactyly, Polydactyly, Brachydactyly, Obesity OMIM:615982
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Rod-cone dystrophy, Retinal coloboma, Microphthalmia, Obesity OMIM:601794
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Short toe, Sparse hair, Sparse eyelashes, Opacification of the corneal stroma, Short phalanx of f... OMIM:211370
Zika Virus Disease
Lens subluxation, Retinal pigment epithelial mottling, Chorioretinal atrophy, Iris coloboma, Wris... ORPHA:448237
Joubert Syndrome 14
Hydrocephalus, Postaxial polydactyly, Coloboma, Downslanted palpebral fissures, Epicanthus, Micro... OMIM:614424
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Intention tremor, Pigmentary retinopathy, Tremor, Cataract, Elevated levels o... OMIM:614307
15Q11Q13 Microduplication Syndrome
Downslanted palpebral fissures, Epicanthus, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Low anterior hairline, Thick eyebrow, Anophthalmia, Telecanthus, Long eyelashes, Synophrys ORPHA:411986
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... ORPHA:67043
Griscelli Syndrome Type 1
Hyperlipidemia, Retinopathy, Partial albinism, Iris hypopigmentation, Premature graying of hair, ... ORPHA:79476
Harel-Yoon Syndrome
Corneal opacity, Optic atrophy, Developmental cataract, Hip dysplasia, Dystonia OMIM:617183
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Bartsocas-Papas Syndrome 2
Corneal opacity, 2-5 finger cutaneous syndactyly, Small hand, Popliteal pterygium, Axillary ptery... OMIM:619339
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Short distal phalanx of finger, Abnormality of hair texture, Hypopigmentation of ... OMIM:601957
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Cousin Syndrome
Hydrocephalus, Facial hirsutism, Microcornea, Rhizomelia, Microphthalmia, Absent proximal finger ... OMIM:260660
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Craniosynostosis, 1-3 toe syndactyly, Downslanted palpebral fissures, Broad hallux... OMIM:175700
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Microcephalic Primordial Dwarfism, Toriello Type
Short middle phalanx of toe, Short proximal phalanx of hallux, Short proximal phalanx of thumb, S... OMIM:251190
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Bartsocas-Papas Syndrome
Hypoplastic toenails, Corneal opacity, Aplasia/Hypoplasia of the distal phalanges of the toes, Ab... ORPHA:1234
Cherubism
Optic neuropathy, Macular scar, Marcus Gunn pupil OMIM:118400
Warburg Micro Syndrome 1
Overlapping toe, Hypertrichosis, Failure to thrive, Facial hypertrichosis, Microcornea, Optic atr... OMIM:600118
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Talipes equinovarus, Intrauterine growth retardation, Microphthalmia OMIM:616570
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Hypoplasia of the fovea, Depigmented fundus, Optic ner... ORPHA:352731
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Sparse eyebrow, Sparse eyelashes, Adducted thumb, Iris coloboma, Cafe-au-lait spot, Alopecia of s... OMIM:618874
Late-Onset Retinal Degeneration
Abnormal suspensory ligament of lens morphology, Macular degeneration, Patchy atrophy of the reti... ORPHA:67042
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Microphthalmia, Retinal degeneration, Macular atrophy OMIM:267760
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Retinal degeneration, Soft tissue swelling of interphalangeal joints, Inc... OMIM:252600
Branchio-Oculo-Facial Syndrome
Fingernail dysplasia, Microcornea, Coloboma, Iris coloboma, Cataract, Premature graying of hair, ... ORPHA:1297
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Small hand, Cataract, Sh... ORPHA:85172
Foveal Hypoplasia 2
Optic nerve misrouting, Microphthalmia, Hypoplasia of the fovea, Foveal hyperpigmentation OMIM:609218
Microphthalmia, Isolated 3
Anophthalmia, Ankyloblepharon, Sclerocornea, Microphthalmia OMIM:611038
Cerebrooculonasal Syndrome
Hydrocephalus, Sparse eyebrow, Sparse eyelashes, Postaxial polydactyly, Optic nerve hypoplasia, C... OMIM:605627
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Developmental And Epileptic Encephalopathy 35
Limb tremor, Cataract, Irritability OMIM:616647
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Corneal opacity, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Spars... OMIM:602400
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalanx, Telecanthus, Po... ORPHA:380
Focal Dermal Hypoplasia
Corneal opacity, Short clavicles, Abnormal palmar dermatoglyphics, Toe syndactyly, Alopecia, Spli... ORPHA:2092
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... ORPHA:2725
Kapur-Toriello Syndrome
Joint contracture of the hand, Retinal coloboma, Camptodactyly of finger, Overlapping fingers, Bi... OMIM:244300
Craniotelencephalic Dysplasia
Hydrocephalus, Craniosynostosis, Arrhinencephaly, Optic atrophy, Frontal bossing, Septo-optic dys... ORPHA:1528
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia, Ptosis, Coloboma OMIM:120433
Brachydactyly, Type B2
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:611377
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... OMIM:620058
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Clouston Syndrome
Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Abnormality of the hand, Sparse eyelashes... OMIM:129500
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Hyperpigmented nevi, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Brachyturricep... OMIM:607597
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalange... OMIM:609638
Bresek Syndrome
Postaxial hand polydactyly, Optic nerve hypoplasia, Iris coloboma, Alopecia ORPHA:85284
Distal Monosomy 13Q
Abnormality of the hand, Optic atrophy, Abnormal metacarpal morphology, Iris coloboma, Aplasia/Hy... ORPHA:1590
Piebaldism
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... ORPHA:2884
Craniodigital-Intellectual Disability Syndrome
Generalized hirsutism, Thick eyebrow, Abnormal hair pattern, Spina bifida occulta, Long eyelashes... ORPHA:1514
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Cataract OMIM:608763
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Stickler Syndrome, Type Ii
Arachnodactyly, Retinal detachment, Long fingers, Cataract, Abnormal vitreous humor morphology OMIM:604841
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Fingernail dysplasia, Curved distal phalanges of the ha... ORPHA:3152
Walker-Warburg Syndrome
Hydrocephalus, Microphthalmia, Retinal detachment, Anophthalmia, Retinal dystrophy, Metatarsus va... ORPHA:899
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Isolated Aniridia
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Achondrogenesis Type 2
Lens subluxation, Delayed proximal femoral epiphyseal ossification, Hypoplastic ilia, Retinal det... ORPHA:93296
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, ... OMIM:612109
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614876
Wt Limb-Blood Syndrome
Clinodactyly of the 5th finger, Irregular hyperpigmentation, Absent thumb, Ulnar deviation of thu... OMIM:194350
Spastic Paraplegia 5A, Autosomal Recessive
Cognitive impairment, Optic atrophy, Cataract, Abnormal circulating cholesterol concentration, Up... OMIM:270800
Nevus Comedonicus Syndrome
Preaxial polydactyly, Cataract, Abnormal hair morphology, Finger syndactyly, Toe syndactyly ORPHA:64754
Retinal Dystrophy And Obesity
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Astigmatism, Peripapil... OMIM:616188
Incontinentia Pigmenti
Keratitis, Alopecia, Abnormal hand morphology, Uveitis, Cataract, Abnormal toenail morphology, Br... ORPHA:464
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Sparse hair, Alopecia, Abnormal anterior chamber morp... ORPHA:3163
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Hypoplastic toenails, Short distal phalanx of the thumb, Short to... ORPHA:370010
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Clinodactyly of the 5th finger, Sparse eyebrow, Dolichocephaly, Lipomas of eyeli... ORPHA:2399
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Congenital Hydrocephalus
Optic atrophy, Iris coloboma ORPHA:2185
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Nasolacrimal duct obstruction, Microphthalmia, Abnormal hair morphology, Eyelid col... OMIM:248450
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... OMIM:312600
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Leber Congenital Amaurosis
Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Talipes equinovarus, Tricuspid regurgitation, Dolichocephaly, Mitral regurgitation... ORPHA:1101
Mucolipidosis Type Iv
Palmoplantar keratoderma, Corneal opacity, Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Trisomy 1Q
Hypoplastic toenails, Hydrocephalus, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Downs... ORPHA:261344
Oculodentodigital Dysplasia, Autosomal Recessive
Failure to thrive, Short palpebral fissure, Persistent pupillary membrane, Sparse eyelashes, Smal... OMIM:257850
Nathalie Syndrome
Cataract OMIM:255990
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Trigonocephaly, Small for gestational age, Sparse medial eyebrow... OMIM:618804
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly OMIM:610140
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment