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Gene: Myo10 MGI:107716

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Gene Summary

Name:
myosin X
Synonyms:
myosin-X,  D15Ertd600e

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal response to new environment Myo10tm2(KOMP)Wtsi HOM Early adult 7.34×10-05
persistence of hyaloid vascular system Myo10tm2(KOMP)Wtsi HOM Early adult 3.04×10-15
corneal opacity Myo10tm2(KOMP)Wtsi HOM Early adult 5.30×10-13
fused phalanges 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
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
abnormal iris morphology Myo10tm2(KOMP)Wtsi HOM   Early adult 5.18×10-06
cataract Myo10tm2(KOMP)Wtsi HOM   Early adult 1.19×10-07
fused cornea and lens Myo10tm2(KOMP)Wtsi HOM Early adult 1.39×10-14
decreased circulating creatinine level Myo10tm2(KOMP)Wtsi HOM Early adult 1.30×10-05
abnormal tail morphology Myo10tm2(KOMP)Wtsi HOM   Early adult 4.78×10-05
abnormal digit morphology Myo10tm2(KOMP)Wtsi HOM Early adult 9.06×10-21
abnormal coat/hair pigmentation Myo10tm2(KOMP)Wtsi HOM Early adult 1.78×10-14

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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

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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DSS Histology

Images

12 Images

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Eye Morphology

Images Ophthalmoscopy

14 Images

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Eye Morphology

Images Slit Lamp

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

14 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Myo10tm2(KOMP)Wtsi
WT, Male, WTSI
Myo10tm2(KOMP)Wtsi
WT, Male, WTSI
Myo10tm2(KOMP)Wtsi
WT, Male, WTSI
Myo10tm2(KOMP)Wtsi
WT, Male, WTSI
Myo10tm2(KOMP)Wtsi
WT, Male, WTSI

View all 83 images

Myo10tm2(KOMP)Wtsi
abnormal dorsoventral coat patterning, abnormal ventral coat pigmentation, HOM, Male, WTSI
Myo10tm2(KOMP)Wtsi
interdigital webbing, HOM, Male, WTSI
Myo10tm2(KOMP)Wtsi
abnormal coat/hair pigmentation, abnormal dorsoventral coat patterning, HOM, Female, WTSI
Myo10tm2(KOMP)Wtsi
interdigital webbing, HOM, Female, WTSI
Myo10tm2(KOMP)Wtsi
interdigital webbing, HOM, Female, WTSI

View all 40 images

Myo10tm2(KOMP)Wtsi
Fused cornea and lens, HOM, Female, WTSI
Myo10tm2(KOMP)Wtsi
Fused cornea and lens, HOM, Female, WTSI
Myo10tm2(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Male, WTSI
Myo10tm2(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Male, WTSI
Myo10tm2(KOMP)Wtsi
narrow eye opening, HOM, Female, WTSI

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
Iris coloboma, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, Chorioretinal col... OMIM:601706
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Coarse metaph... ORPHA:2779
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma, Short thumb OMIM:274205
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl, Iris coloboma ORPHA:168
Hypomelanosis Of Ito
Cataract, Hand polydactyly, Macular hypopigmented whorls, streaks, and patches, Iris coloboma, Sy... OMIM:300337
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Syndactyly, Brachydactyly, Coloboma, Clinodactyly, Peters anomaly, Ocular anterior... OMIM:610023
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy, Abnormality of skin pigmentation OMIM:300719
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy, Generalized hyperpigmentation ORPHA:2253
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of the skin, Hypopigmentation of hair, Whi... ORPHA:42665
Winchester Syndrome
Broad metacarpals, Carpal osteolysis, Hirsutism, Corneal opacity, Osteolysis involving tarsal bones OMIM:277950
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... OMIM:174500
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Dermochondrocorneal Dystrophy
Large hands, Abnormality of the hand, Corneal dystrophy ORPHA:79149
Microphthalmia, Isolated, With Coloboma 5
Bilateral microphthalmos, Iris coloboma, Holoprosencephaly, Microphthalmia, Chorioretinal colobom... OMIM:611638
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Curry-Jones Syndrome
Iris coloboma, Hypopigmented skin patches, Finger syndactyly, Toe syndactyly, Broad thumb, Abnorm... ORPHA:1553
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Retinal detachme... OMIM:610202
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Optic pit, Anophthalmia OMIM:616428
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Bardet-Biedl Syndrome 18
Brachydactyly, Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Stickler Syndrome Type 2
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy ORPHA:90654
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Camptosynpolydactyly, Complex
Toenail dysplasia, Camptodactyly, Nail dysplasia, Polydactyly, Syndactyly, Cutaneous syndactyly, ... OMIM:607539
Polydactyly, Postaxial, Type A1
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... OMIM:174200
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Terminal Osseous Dysplasia
Camptodactyly of toe, Camptodactyly of finger, Iris coloboma, Syndactyly, Short toe, Abnormal han... OMIM:300244
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Symphalangism With Multiple Anomalies Of Hands And Feet
Short distal phalanx of hallux, Small thenar eminence, Aplasia/Hypoplasia of the distal phalanx o... ORPHA:3246
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Developmental cataract, Increased LDL cholesterol concentration, Aggressive behavior, Fair hair OMIM:618808
Woolly Hair
Cataract, Sparse body hair, Abnormal retinal morphology, Fine hair, Abnormal pupil morphology, Br... ORPHA:170
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
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor, Tremor OMIM:165300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Apl... ORPHA:1067
Syndactyly, Type Iii
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger OMIM:186100
Cone-Rod Dystrophy 16
Cataract, Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Postaxial polyda... OMIM:614500
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Syndactyly Type 1
Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Megalocornea
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... OMIM:309300
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Retinal detachment, Posterior embryotoxon, Chorioretinal coloboma, Corne... ORPHA:1473
Griscelli Syndrome, Type 3
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair OMIM:609227
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Hypoplasia of the fovea, Optic atrophy OMIM:620086
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of the fundus, Albinism, Hypopigmentation of hair, Macular hypoplasia OMIM:606574
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Abruzzo-Erickson Syndrome
Ulnar deviation of finger, Iris coloboma, Toe syndactyly, Short toe, Radioulnar synostosis, Chori... ORPHA:921
Dermoids Of Cornea
Corneal opacity OMIM:304730
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Onychogryposis of fingernail, Short thumb, Hypopigmented skin patches, F... ORPHA:2251
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Iris coloboma, Osteolysis involving bones of the lower limbs, Syndactyly, Alopecia... ORPHA:88630
Uncombable Hair Syndrome 2
Juvenile cataract, Pili canaliculi, Uncombable hair OMIM:617251
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
2Q24 Microdeletion Syndrome
Cataract, Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Long fingers, Toe ... ORPHA:1617
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Abnormality of the upper limb, Bilateral single ... ORPHA:1891
Cataract 9, Multiple Types
Cataract, Iris coloboma, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal atrophy, Cone/cone-rod dystrophy, Metaphyseal irregularity, Bowing of the legs, Short pha... ORPHA:85167
Wagner Vitreoretinopathy
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... OMIM:143200
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Pi... ORPHA:284454
Microphthalmia With Limb Anomalies
Hip dislocation, Metatarsal synostosis, Short palpebral fissure, Toe syndactyly, Single transvers... OMIM:206920
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Gombo Syndrome
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Erythrokeratodermia Variabilis
Cataract, Irregular hyperpigmentation, Hypermelanotic macule, Abnormality of the nail, Patchy pal... ORPHA:317
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormal metaphysis morphology, Abnormal metacarpal morphology, Clinodactyly of th... ORPHA:2370
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Congenital hip dislocation, Eyelid coloboma, Alopecia, Microphthalmia, Orb... OMIM:164180
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Short distal phalanx of finger, Iris hypopigmentation, Aplasia/Hypo... ORPHA:2513
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Hand monodactyly, Retinopathy, Split hand, Split foot OMIM:183800
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... OMIM:217800
Birdshot Chorioretinopathy
Cataract, Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal d... ORPHA:179
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Oculocutaneous Albinism
Iris hypopigmentation, Iris coloboma, Generalized hypopigmentation, Generalized hypopigmentation ... ORPHA:55
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Freckling, Iris hypopigmentation, Iris coloboma, Hypopigmented skin patches, Multiple cafe-au-lai... ORPHA:3214
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Nanophthalmos
Abnormal choroid morphology, Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Coats Disease
Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ... ORPHA:190
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Norrie Disease
Cataract, Retinal detachment, Dementia, Optic atrophy, Buphthalmos, Shallow anterior chamber, Hyp... OMIM:310600
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Hidrotic Ectodermal Dysplasia
Anonychia, Abnormal metacarpophalangeal joint morphology, Sparse eyebrow, Nail dystrophy, Brittle... ORPHA:189
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Diffuse palmoplantar hyperkeratosis, Alopecia, Dystrophic toenail, Hypopigmenta... OMIM:617294
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Mucolipidosis Iv
Progressive neurologic deterioration, Retinal degeneration, Corneal opacity, Opacification of the... OMIM:252650
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Optic nerve dysplasia, Progressive cataract, Duplication involving bones ... OMIM:246000
Cataract 50 With Or Without Glaucoma
Cataract, Retinal detachment, Persistent pupillary membrane OMIM:620253
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Orbital cyst, Microphthalmia, Coloboma OMIM:251505
Microphthalmia With Brain And Digit Anomalies
Cataract, Postaxial foot polydactyly, Nail dysplasia, Iris coloboma, Proximal placement of thumb,... ORPHA:139471
Humero-Radial Synostosis
Elbow ankylosis, Iris coloboma, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Chorio... ORPHA:3265
Nathalie Syndrome
Cataract ORPHA:2663
Linear Verrucous Nevus Syndrome
Cataract, Iris coloboma, Short metacarpal, Toe syndactyly, Abnormal cornea morphology, Sparse sca... ORPHA:2611
Laurence-Moon Syndrome
Cataract, Hand polydactyly, Iris coloboma, Finger syndactyly, Bilateral single transverse palmar ... ORPHA:2377
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Short metacarpal, Chorioretinal coloboma, Short thumb ORPHA:2489
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect, Chorioreti... OMIM:619165
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Hereditary Bullous Dystrophy, Macular Type
Short finger, Cataract, Spotty hypopigmentation, Congenital abnormal hair pattern, Alopecia, Tape... ORPHA:1867
Cataract 42
Cataract, Developmental cataract OMIM:115900
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Anophthalmia, Microphthalmia ORPHA:85275
Gómez-López-Hernández Syndrome
Alopecia of scalp, Cognitive impairment, Toenail dysplasia, Corneal opacity ORPHA:1532
Leber Congenital Amaurosis 2
Cataract, Eye poking, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Att... OMIM:204100
Retinitis Pigmentosa 9
Cataract, Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular e... OMIM:180104
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Chorioretinal colob... ORPHA:137902
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Syndactyly Type 5
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... ORPHA:93406
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Coxa valga, Asteroid hyalosis, Retinal thinning, Genu valgum, Epiphyseal dysplasia, Sho... OMIM:132450
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Ophthalmomandibulomelic Dysplasia
Elbow dislocation, Camptodactyly of finger, Megalocornea, Synostosis of carpal bones, Radioulnar ... ORPHA:2741
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Camptodactyly, 2-3 finger syndactyly, 3-4 finger syndactyly, Sparse eyebro... OMIM:225280
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyaloid vascular sys... ORPHA:231736
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Narrow palm, Hypopigmentation of the skin, Hypopigmentation of hair, Small... ORPHA:177910
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Triple A Syndrome
Iris coloboma, Abnormality of the hypothenar eminence, Palmoplantar keratoderma, Optic atrophy, G... ORPHA:869
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma OMIM:120433
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... ORPHA:998
Temtamy Syndrome
Iris coloboma, Genu varum, Brachydactyly, Short toe, Chorioretinal coloboma, Clinodactyly of the ... ORPHA:1777
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma OMIM:613703
Retinitis Pigmentosa 84
Cataract, Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation... OMIM:618220
Tietz Albinism-Deafness Syndrome
Blue irides, Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis OMIM:103500
Leber Congenital Amaurosis 1
Cataract, Eye poking, Pigmentary retinopathy, Hyperthreoninemia, Fundus atrophy, Hyperthreoninuri... OMIM:204000
Wahab Syndrome
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... OMIM:615170
Adams-Oliver Syndrome 4
Toenail dysplasia, Hypoplastic toenails, Umbilical hernia, Microphthalmia, Aplasia of the middle ... OMIM:615297
Morquio Syndrome C
Corneal opacity OMIM:252300
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Chorioretinal coloboma, Iris coloboma, Retinal coloboma, Preaxial polydactyly ORPHA:2921
Mucolipidosis Type Iii
Hypoplastic inferior ilia, Cognitive impairment, Abnormal hip bone morphology, Large iliac wing, ... ORPHA:577
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Decreased movement range in interphalangeal joints, Shoulder girdle muscle weakness, El... OMIM:609115
Vogt-Koyanagi-Harada Disease
Cataract, Abnormal eyelash morphology, Vitiligo, Abnormal eyebrow morphology, Hypopigmented skin ... ORPHA:3437
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614882
Bardet-Biedl Syndrome 5
Polydactyly, Obesity, Syndactyly, Macular dystrophy, Rod-cone dystrophy, Brachydactyly OMIM:615983
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Hand polydactyly, Congenital hip dislocation, Iris coloboma, Hypo... ORPHA:1647
Leber Congenital Amaurosis 8
Cataract, Eye poking, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris atr... OMIM:613835
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Mietens Syndrome
Cataract, Elbow ankylosis, Hip dislocation, Hip dysplasia, Abnormality of fibula morphology, Avas... ORPHA:2557
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Abnormality of the hand, Abnormality of retinal pigmentation, Juvenile cataract,... ORPHA:1264
Retinitis Pigmentosa 4
Cataract, Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Atten... OMIM:613731
Microphthalmia, Isolated 8
Retinal detachment, Microphthalmia, Retinal coloboma, Optic nerve hypoplasia, True anophthalmia, ... OMIM:615113
Woolly Hair Nevus
Woolly scalp hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Curl... ORPHA:79414
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly, Hydrocephalus OMIM:615938
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger ORPHA:71289
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Congenital bilateral hip dislocation, Hirsutism, Talipes equinovarus ORPHA:85288
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe, 1-2 toe complete cutaneous syndactyly, A... ORPHA:488232
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Iris coloboma OMIM:300915
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal... ORPHA:2334
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Astigmatism, Toe ... ORPHA:999
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Fingernail dysplasia, Ectopia lentis, Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
Anencephaly 2
Anophthalmia, Short palpebral fissure, Anencephaly OMIM:619452
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Anxiety, Macular degeneration, Dementia, Retinal degeneration, Psychomotor deterioratio... OMIM:204200
Anophthalmia Plus Syndrome
Deviation of finger, Iris coloboma, Spina bifida, Eyelid coloboma, Blepharophimosis, Anophthalmia ORPHA:1104
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Synophrys, Finger syndactyly, Abnormality of the elbow, Thick eyebrow, Radioulnar synostosis, Cli... ORPHA:3268
Brachydactyly Type A7
Medially deviated second toe, Broad distal phalanx of the thumb, Hallux valgus, Short middle phal... ORPHA:93397
Oculofaciocardiodental Syndrome
Cataract, Ectopia lentis, Iris coloboma, Short thumb, Retinal detachment, Flexion contracture of ... ORPHA:2712
Morm Syndrome
Retinal dystrophy, Cataract, Aggressive behavior, Retinal atrophy ORPHA:75858
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Congenital hip dislocation, Iris coloboma, Hypoplastic acetabulae, Hypoplastic ... OMIM:169550
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Peripheral vitreoretinal degeneration, Retinal detachment, Lattice r... OMIM:614292
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Abnormal hand morphology, Short foot, Small hand OMIM:300261
Bardet-Biedl Syndrome 9
Cataract, Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Astigmatism, Syndactyly... OMIM:615986
Distal Duplication 18Q
Deviation of finger, Camptodactyly of finger, Iris coloboma, Arachnodactyly, Large hands, Bilater... ORPHA:1716
Scheie Syndrome
Corneal opacity, Genu valgum, Retinal degeneration OMIM:607016
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:606952
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Type E brachydactyly, Limited elbow extension, Cataract, Hip dysplasia, Abnormal hip joint morpho... ORPHA:1856
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Microphthalmia, Abnormality of re... OMIM:251270
Brachydactyly, Type A2
Medially deviated second toe, Hallux valgus, Aplasia/Hypoplasia of the middle phalanx of the 2nd ... OMIM:112600
Monilethrix
Cataract, Patchy alopecia, Abnormal eyelash morphology, Abnormal eyebrow morphology, Cognitive im... ORPHA:573
Frontonasal Dysplasia 1
Cataract, Camptodactyly, Epicanthus, Widow's peak, Anterior basal encephalocele, Microphthalmia, ... OMIM:136760
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati... ORPHA:98960
Osteoporosis-Pseudoglioma Syndrome
Metaphyseal widening, Retinal detachment, Abnormal femoral neck/head morphology, Exudative retino... ORPHA:2788
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... ORPHA:98964
Waardenburg Syndrome, Type 2A
Synophrys, Premature graying of hair, Hypoplastic iris stroma, Albinism, Numerous pigmented freck... OMIM:193510
Fibular Hemimelia
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... ORPHA:93323
Waardenburg Syndrome, Type 3
Blue irides, Clinodactyly, Camptodactyly of finger, Hypopigmented skin patches, Synophrys, Premat... OMIM:148820
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of th... OMIM:611040
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Iris coloboma, Hip dysplasia, Abnormal hair morphology, Short foot, Ocular anterior segment dysge... OMIM:601427
Santos Syndrome
Oligodactyly, Anonychia, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Me... OMIM:613005
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613265
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Abnormality of the humerus, Abnormal eyelash morphology, Cognitive impai... ORPHA:1794
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... OMIM:605289
Gorlin Syndrome
Cataract, Palmar pits, Iris coloboma, Melanocytic nevus, Arachnodactyly, Brachydactyly ORPHA:377
Congenital Absence Of Upper Arm And Forearm With Hand Present
Small for gestational age, Polydactyly, Abnormal hip bone morphology, Syndactyly, Upper limb phoc... ORPHA:294975
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Iris coloboma, Peripheral retinal atrophy OMIM:615147
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Hydrocephalus, Occipital encephalocele, Microphthalmia, Retin... ORPHA:324416
Piebald Trait
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... OMIM:172800
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Epiretinal membrane, Keratitis, Opacification of the corneal stroma OMIM:148200
Ring Dermoid Of Cornea
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... OMIM:180550
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Epicanthus, Brachycephaly, Upslanted palpebral fissure, Microphthalmia, Microcornea ORPHA:2528
Joubert Syndrome 15
Retinal dystrophy, Preaxial polydactyly, Exencephaly, Retinopathy, Coloboma OMIM:614464
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Chorioretinal dysplasia, Astigmatism, Retinal detachment, Optic atrophy, Chorioretinal ... OMIM:152950
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypoplasia of the fovea, Hypopigmentation of the fundus, Freckles in sun-exposed are... OMIM:203200
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal ... OMIM:616108
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Postaxial foot polydactyly, Short distal phalanx of finger, Anonychia, H... ORPHA:1113
Pierpont Syndrome
Short finger, Narrow palpebral fissure, Brachycephaly, Unilateral narrow palpebral fissure, Deep ... OMIM:602342
Brachydactyly Type B
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... ORPHA:93383
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Vitreoretinal Degeneration, Snowflake Type
Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Corneal guttata, Retina... OMIM:193230
Multiple Sulfatase Deficiency
Cataract, Rapid neurologic deterioration, Thick eyebrow, Abnormality of retinal pigmentation, Bro... ORPHA:585
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Nasopalpebral Lipoma-Coloboma Syndrome
Upper eyelid coloboma, Lipomas of eyelids, Absent lacrimal punctum, Widow's peak, Microphthalmia,... OMIM:167730
Cat-Eye Syndrome
Iris coloboma, Chorioretinal coloboma, Hip dysplasia ORPHA:195
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Congenital Disorder Of Glycosylation, Type Id
Clinodactyly of the 5th toe, Nail dysplasia, Iris coloboma, Small nail, Long fingers, Adducted th... OMIM:601110
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus, Microphthalmia, Coloboma, Obesity ORPHA:141333
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... ORPHA:157801
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Aminoaciduria, Abnormal fingernail morphology ORPHA:2278
Aniridia 2
Cataract, Iris coloboma, Lens subluxation, Aniridia, Optic atrophy OMIM:617141
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Temtamy Syndrome
Hip dislocation, Ectopia lentis, Iris coloboma, Lens luxation, Short 2nd toe, Highly arched eyebr... OMIM:218340
Neovascular Glaucoma
Abnormal uvea morphology, Retinal vascular proliferation, Retinal detachment, Abnormal anterior c... ORPHA:94058
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Acropectorovertebral Dysplasia
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... OMIM:102510
Renpenning Syndrome
Cataract, Iris coloboma, Alopecia, Abnormal hairshaft morphology, Abnormal thumb morphology, Thin... ORPHA:3242
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism, Macular degeneration, Retinal thinning, Mac... OMIM:270200
Brachydactyly Type B2
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... ORPHA:140908
Meckel Syndrome, Type 8
Encephalocele, Polydactyly, Occipital encephalocele, Microphthalmia, Talipes equinovarus, Anophth... OMIM:613885
Choroidal Atrophy-Alopecia Syndrome
Abnormal toenail morphology, Supernumerary nipple, Fine hair, Finger syndactyly, Abnormality of r... ORPHA:1433
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:607624
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Prominent protruding coccyx, Iris coloboma, Aplasia/Hypoplasia of the fi... ORPHA:2839
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, Cataract, Ectopia pupillae, Epicanthus, Long eyelashes, 3-4 finger syndactyly, M... OMIM:615877
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... ORPHA:83461
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Abnormality of femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth ORPHA:2310
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Retinal detachment, Low anterior hairline, Elevated circulating creatine kinase concent... OMIM:613153
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Metaphyseal widening, Supernumerary nipple, Short iliac bones, Broad long bone diaphyse... OMIM:614376
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Anterior synechiae of the anterior chamber, Hypoplasia of the iris, Scle... OMIM:604229
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Hartsfield Syndrome
Craniosynostosis, Encephalocele, Downslanted palpebral fissures, Lobar holoprosencephaly, Intraut... ORPHA:2117
Liebenberg Syndrome
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... OMIM:186550
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Macular atrophy, Optic disc pallor, Talipes equinovarus, Retinopathy, Optic atrophy, Mi... OMIM:616171
Cat-Eye Syndrome (Type I)
Iris coloboma DECIPHER:42
White Forelock With Malformations
White forelock, Aplasia/Hypoplasia of the distal phalanges of the toes, Poliosis OMIM:277740
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... ORPHA:891
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Uveitis, Buphthalmos, Persistent pupillary membrane, Shallow anterior ch... OMIM:221900
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Ulnar deviation of the hand, Bilateral elbow disloc... OMIM:166300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia, Hydrocephalus OMIM:614830
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Adams-Oliver Syndrome
Short distal phalanx of finger, Absent hand, Abnormality of the upper limb, Sparse hair, Brachyda... ORPHA:974
Trisomy 13
Cataract, Calvarial skull defect, Abnormal eyelash morphology, Iris coloboma, Bilateral single tr... ORPHA:3378
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Iris coloboma, Shallow anterior chamber, Chorioretinal coloboma, Flat cornea, Mi... OMIM:602499
Retinitis Pigmentosa 13
Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen... OMIM:600059
Oculocutaneous Albinism Type 3
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... ORPHA:79433
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Sparse eyebrow, Iris coloboma, Sparse scalp hair ORPHA:66629
Classic Phenylketonuria
Cataract, Hyperphenylalaninemia, Motor deterioration, Memory impairment, Self-injurious behavior,... ORPHA:79254
Microphthalmia, Isolated 4
Coloboma, Microphthalmia, Postaxial polydactyly OMIM:613094
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Ophthalmomandibulomelic Dysplasia
Decreased mobility 3rd-5th fingers, Elbow dislocation, Megalocornea, Coxa valga, Radioulnar dislo... OMIM:164900
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyelash morphology, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal ey... ORPHA:2885
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:136120
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... ORPHA:1892
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy OMIM:616947
Polydactyly, Preaxial Iv
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... OMIM:174700
Cohen Syndrome
Chorioretinal dystrophy, Long eyelashes, Iris coloboma, Abnormal eyelash morphology, Narrow palm,... ORPHA:193
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, Patchy alopecia, Sparse eyelashes, Hypoplastic toenails, Alopecia, Absent facial hair... OMIM:613573
Persistent Hyperplastic Primary Vitreous
Cataract, Tractional retinal detachment, Buphthalmos, Persistent pupillary membrane, Shallow ante... ORPHA:91495
Congenital Rubella Syndrome
Cataract, Abnormal metaphysis morphology, Abnormality of retinal pigmentation, Corneal opacity, A... ORPHA:290
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Cognitive impairment, Optic atrophy, Dementia ORPHA:329314
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... OMIM:610713
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... OMIM:225200
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Retinal detachment, Microphakia, Abnormality of retinal pigmentation, Lens subluxation,... ORPHA:171844
Neuroectodermal Melanolysosomal Disease
Aplasia/Hypoplasia of the macula, Premature graying of hair, Hypopigmentation of the skin, Hypopi... ORPHA:33445
Microphthalmia With Limb Anomalies
Hip dislocation, Abnormal eyebrow morphology, Short tibia, Abnormality of the upper limb, Toe syn... ORPHA:1106
Duane Retraction Syndrome
Camptodactyly, Irregular hyperpigmentation, Central heterochromia, Patchy hypopigmentation of hai... ORPHA:233
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Microphthalmia, Coloboma OMIM:274270
Mulibrey Nanism
Iris coloboma, Astigmatism, Pigmentary retinopathy, Corneal dystrophy, Thickened cortex of long b... OMIM:253250
Multiple Epiphyseal Dysplasia, Beighton Type
Metaphyseal spurs, Cataract, Abnormal metacarpophalangeal joint morphology, Hip dysplasia, Abnorm... ORPHA:166011
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Elevated circulating phytanic acid concentration, Increased circulating very long-chain... OMIM:614307
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Chorioretinal coloboma, Iris coloboma, Talipes equinovarus OMIM:617662
Phenylketonuria
Blue irides, Cataract, Self-mutilation, Hyperphenylalaninemia, Generalized hypopigmentation, Mate... OMIM:261600
Frontofacionasal Dysplasia
Encephalocele, Telecanthus, Brushfield spots, Cataract, Iris coloboma, Brachycephaly, Upper eyeli... ORPHA:1791
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, Abnormality of ... ORPHA:79435
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... ORPHA:895
Autosomal Recessive Stickler Syndrome
Cataract, Vitreoretinopathy, Astigmatism, Retinal detachment, Abnormal epiphysis morphology, Epip... ORPHA:250984
Carpenter Syndrome
Craniosynostosis, Cloverleaf skull, Polydactyly, Oxycephaly, Umbilical hernia, Obesity, Finger sy... ORPHA:65759
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract, Abnormal macular morphology, Hyperornithinemia, Chorioretinal hyp... ORPHA:414
Syndactyly, Type V
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... OMIM:186300
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia, Neonatal death OMIM:615524
Genitourinary And/Or Brain Malformation Syndrome
Epicanthus, Astigmatism, Holoprosencephaly, Upslanted palpebral fissure, Syndactyly, Short palpeb... OMIM:618820
Split-Hand/Foot Malformation 1
Foot oligodactyly, Ectrodactyly, Syndactyly, Broad hallux, Clinodactyly, Triphalangeal thumb, Han... OMIM:183600
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Palmoplantar blistering, Ridged nail, Abnormal toenail morphology, Dystrophic toenail, Abnormal f... ORPHA:89838
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Toe syndactyly, Abnormal morphology of ulna, Brachydactyly, Abnormality ... ORPHA:251014
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Flynn-Aird Syndrome
Cataract, Dementia, Alopecia, Alopecia of scalp, Rod-cone dystrophy OMIM:136300
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Bietti Crystalline Dystrophy
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... ORPHA:41751
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Pierpont Syndrome
Short finger, Narrow palpebral fissure, Small for gestational age, Brachycephaly, Excessive wrink... ORPHA:487825
Joubert Syndrome 22
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly, Retin... OMIM:615665
Cerebrooculonasal Syndrome
Epicanthus, Brachycephaly, Upslanted palpebral fissure, Sparse eyebrow, Postaxial hand polydactyl... ORPHA:66625
Crouzon Syndrome
Iris coloboma, Hypopigmented skin patches, Optic atrophy, Conjunctivitis, Melanocytic nevus ORPHA:207
Acro-Renal-Ocular Syndrome
Short thumb, Toe syndactyly, Short hallux, Preaxial hand polydactyly, Triphalangeal thumb, Iris c... ORPHA:959
Bardet-Biedl Syndrome 4
Polydactyly, Obesity, Syndactyly, Retinal degeneration, Rod-cone dystrophy, Brachydactyly OMIM:615982
Senior-Loken Syndrome
Retinal dystrophy, Cataract, Cone-shaped epiphysis, Abnormality of retinal pigmentation ORPHA:3156
Harel-Yoon Syndrome
Hip dysplasia, Corneal opacity, Developmental cataract, Optic atrophy, Dystonia OMIM:617183
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Long eyelashes, Synophrys, Low anterior hairline, Thick eyebrow, Anophthalmia, Telecanthus ORPHA:411986
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Corneal crystals, Elevated circulating creatinine concentration OMIM:219750
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Opacification of the corneal stroma, Corneal opacity, Corneal dystrophy OMIM:608470
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, White hair, Hyperlipidemia, Partial albinism, R... ORPHA:79476
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Morning glory anomaly, Chorioretinal coloboma, Corneal opacity, Optic disc c... OMIM:120200
Bartsocas-Papas Syndrome 2
Axillary pterygium, Absent distal phalanges, 2-5 finger cutaneous syndactyly, Corneal opacity, Sm... OMIM:619339
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Aminopterin Syndrome Sine Aminopterin
Narrow palpebral fissure, Rudimentary postaxial polydactyly of hands, Brachycephaly, Short thumb,... OMIM:600325
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy ORPHA:293621
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Greig Cephalopolysyndactyly Syndrome
Trigonocephaly, 1-3 toe syndactyly, Preaxial foot polydactyly, Broad thumb, Dolichocephaly, Hirsu... OMIM:175700
Odontotrichoungual-Digital-Palmar Syndrome
Single transverse palmar crease, Short distal phalanx of finger, Nail dysplasia, Nail dystrophy, ... OMIM:601957
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Sparse or absent eyelashes, Popliteal pterygium, Corneal opaci... ORPHA:1234
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Microphthalmia, Retinal coloboma, Rod-cone dystrophy, Obesity OMIM:601794
Split-Hand/Foot Malformation 6
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hand oligodactyly, Split hand, Split foot OMIM:225300
Zika Virus Disease
Abnormal optic disc morphology, Macular atrophy, Iris coloboma, Retinal pigment epithelial mottli... ORPHA:448237
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... ORPHA:98973
Retinal Dystrophy And Obesity
Peripapillary atrophy, Astigmatism, Retinal detachment, Retinal dots, Attenuation of retinal bloo... OMIM:616188
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Microphthalmia, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Macular atrophy, Iris coloboma, Corneal scarring, Retinal detachment, Buphthalmos, Chor... OMIM:212550
Eem Syndrome
Sparse body hair, Ectrodactyly, Finger syndactyly, Abnormality of retinal pigmentation, Absent ey... ORPHA:1897
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Short femoral neck, Delayed ossification of carpal bones, Brachydactyly OMIM:618392
15Q11Q13 Microduplication Syndrome
Downslanted palpebral fissures, Epicanthus, Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Metaphyseal widening, Brachydactyly, Coarse metaphyseal trabecularization, Short long bone, Corne... OMIM:618961
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Oculocutaneous Albinism Type 1
Depigmented fundus, Hypoplasia of the fovea, Blue irides, Iris hypopigmentation, Generalized hypo... ORPHA:352731
Developmental And Epileptic Encephalopathy 35
Cataract, Limb tremor, Irritability OMIM:616647
Cherubism
Optic neuropathy, Marcus Gunn pupil, Macular scar OMIM:118400
Cerebrooculonasal Syndrome
Craniosynostosis, Encephalocele, Epicanthus, Brachycephaly, Iris coloboma, Hydrocephalus, Sparse ... OMIM:605627
Warburg Micro Syndrome 1
Facial hypertrichosis, Overlapping toe, Microphthalmia, Failure to thrive, Hypertrichosis, Optic ... OMIM:600118
Microphthalmia, Syndromic 16
Sclerocornea, Ankyloblepharon, Anophthalmia, Microphthalmia OMIM:611038
Branchio-Oculo-Facial Syndrome
Cataract, Iris coloboma, Premature graying of hair, Fingernail dysplasia, Preaxial hand polydacty... ORPHA:1297
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Postaxial foot polydactyly, Hydrocephalus, Umbilical hernia, Finger syndactyly,... ORPHA:380
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Iris coloboma, Cafe-au-lait spot, Sparse eyebrow, Adducted thumb, Alopecia of scalp, Sparse eyela... OMIM:618874
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Sclerocornea, Corneal opacity, Flat cornea OMIM:217300
Olmsted Syndrome 1
Nail dysplasia, Alopecia universalis, Nail dystrophy, Palmoplantar keratoderma, Corneal opacity, ... OMIM:614594
Exudative Vitreoretinopathy 6
Cataract, Retinal exudate, Cortical cataract, Retinal detachment, Tractional retinal detachment, ... OMIM:616468
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Curly eyelashes, Curly hair, Brittle hair, Sparse eyebrow, Corneal opacity, Spa... OMIM:602400
Epidermolysis Bullosa, Lethal Acantholytic
Anonychia, Alopecia universalis, Mitten deformity, Widely spaced toes, Syndactyly, Neonatal death... OMIM:609638
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Cho... OMIM:312600
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal encephalocele, Arrhinencephaly, Hydrocephalus, Septo-optic dysplasia, M... ORPHA:1528
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Abnormal distal phalanx morphology of finger, Cataract, Bowing of the long bones, Abnormal hip bo... ORPHA:2725
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Peripapillary atrophy, Drusen, Epiretinal membra... ORPHA:67042
Clouston Syndrome
Cataract, Nail dysplasia, Onycholysis, Absent axillary hair, Fine hair, Brittle hair, Abnormality... OMIM:129500
Focal Dermal Hypoplasia
Camptodactyly of finger, Hand polydactyly, Upper limb asymmetry, Ectopia lentis, Iris coloboma, A... ORPHA:2092
Mucolipidosis Iii Alpha/Beta
Retinal degeneration, Short long bone, Hyperopic astigmatism, Shallow acetabular fossae, Carpal b... OMIM:252600
Curry-Jones Syndrome
Bicoronal synostosis, 2-3 finger syndactyly, Iris coloboma, Triphalangeal hallux, Lipomyelomening... OMIM:601707
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Piebaldism
Piebaldism, Hypopigmented skin patches, Synophrys, White eyelashes, Hypopigmentation of hair, Whi... ORPHA:2884
Brachydactyly, Type B2
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... OMIM:611377
Stickler Syndrome, Type V
Cataract, Vitreoretinopathy, Retinal detachment OMIM:614284
Kapur-Toriello Syndrome
Cataract, Camptodactyly of finger, Clinodactyly of the 5th toe, Iris coloboma, Short thumb, Low p... OMIM:244300
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Abnormal hair morphology, Brachyturricephaly, Eyelid coloboma, Broad pr... OMIM:607597
Coloboma, Ocular, Autosomal Recessive
Cataract, Iris coloboma, Lens subluxation, Optic disc coloboma, Retinal coloboma OMIM:216820
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Distal Deletion 13Q
Iris coloboma, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Abnormal metacarpal morp... ORPHA:1590
Craniodigital-Intellectual Disability Syndrome
Long eyelashes, Brachycephaly, Thick hair, Finger syndactyly, Thick eyebrow, Spina bifida occulta... ORPHA:1514
Walker-Warburg Syndrome
Chorioretinal dysplasia, Iris coloboma, Hydrocephalus, Retinal detachment, Microphthalmia, Retina... ORPHA:899
Wilson-Turner Syndrome
Emotional lability, Cataract, Thick eyebrow, Tapered finger, Small hand, Short foot ORPHA:3459
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Irregular hyperpigmentation, Short thumb, Joint contracture of... OMIM:194350
Morning Glory Disc Anomaly
Optic disc coloboma, Retinal detachment, Cataract, Abnormality of retinal pigmentation ORPHA:35737
Stickler Syndrome, Type Ii
Cataract, Retinal detachment, Long fingers, Abnormal vitreous humor morphology, Arachnodactyly OMIM:604841
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:277580
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract, Short palm, Small hand, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of ... ORPHA:85172
Sclerosteosis
2-3 finger syndactyly, Curved distal phalanges of the hand, Finger syndactyly, Fingernail dysplas... ORPHA:3152
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Cognitive impairment, Postural tremor, Abnormal circulating cholesterol concentration, ... OMIM:270800
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Bresek Syndrome
Postaxial hand polydactyly, Iris coloboma, Optic nerve hypoplasia, Alopecia ORPHA:85284
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Hypoplastic toenails, Osseous finger syndactyly, Sho... ORPHA:370010
Oculoauricular Syndrome
Cataract, Iris cyst, Rod-cone dystrophy, Iris coloboma, Morning glory anomaly, Cone/cone-rod dyst... OMIM:612109
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614876
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Oculodentodigital Dysplasia, Autosomal Recessive
Epicanthus, Fifth finger distal phalanx clinodactyly, Broad long bones, Short palpebral fissure, ... OMIM:257850
Congenital Hydrocephalus
Optic atrophy, Iris coloboma ORPHA:2185
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Incontinentia Pigmenti
Camptodactyly of finger, Absent hand, Dystrophic toenail, Abnormal hand morphology, Abnormality o... ORPHA:464
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
3-4 finger syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypopl... OMIM:609432
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior s... OMIM:615145
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Cataract, Abnormality of retinal pigmentation ORPHA:65
Nevus Comedonicus Syndrome
Cataract, Preaxial polydactyly, Finger syndactyly, Toe syndactyly, Abnormal hair morphology ORPHA:64754
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Camptodactyly of finger, Abnormal size of the palpebral fissures, Ulnar deviation ... ORPHA:1101
Sandestig-Stefanova Syndrome
Camptodactyly, Epicanthus, Small for gestational age, Bilateral single transverse palmar creases,... OMIM:618804
Nathalie Syndrome
Cataract OMIM:255990
Mucolipidosis Type Iv
Retinopathy, Palmoplantar keratoderma, Corneal opacity, Abnormality of retinal pigmentation ORPHA:578
Trisomy 1Q
Camptodactyly of finger, Hydrocephalus, Hypoplastic toenails, Aplasia/Hypoplasia of the nails, Do... ORPHA:261344
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Short Syndrome
Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology, Alopecia, Hypoplas... ORPHA:3163
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Abnormal eyelash morphology, Bilateral microphthalmos, Lipomas of eyelids, Widow's peak... ORPHA:2399
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia ORPHA:1068
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Brachydactyly OMIM:610140
Martsolf Syndrome 2
Cataract, Camptodactyly of finger, Camptodactyly, Overlapping toe, Developmental cataract OMIM:619420
Congenital Toxoplasmosis
Jaundice, Hydrocephalus, Failure to thrive in infancy, Hepatomegaly, Elevated hepatic transaminas... ORPHA:858
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Oculocutaneous Albinism Type 2
Blue irides, Hypoplasia of the fovea, Absent skin pigmentation, Iris hypopigmentation, Freckling,... ORPHA:79432
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Short metatarsal, Advanced ossification of carpal bones, Short phalanx of finger, Sh... OMIM:614613
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Generalized hypopigmentation, Microphthalmia, Clinodactyly of the 5th finger, Shallow o... OMIM:617306
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh... ORPHA:93409
3Q29 Microduplication Syndrome
Cataract, Camptodactyly of toe, Iris coloboma, Toe syndactyly, Aniridia, Sclerocornea, Sandal gap ORPHA:251038
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Proximal placement of thumb, Hypopigmented skin patches, Abnormality of the wrist, Finger syndact... ORPHA:1825
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Freckling, Abnormal macular morphology, Iris hypopigmentation, Astigmati... ORPHA:54
Baralle-Macken Syndrome
Cataract, Cafe-au-lait spot, Tapered finger, Hirsutism, Dystonia OMIM:619255
Congenital Sialidosis Type 2
Cataract, Hypoplasia of the fovea, Polydactyly, Generalized hypertrichosis, Cherry red spot of th... ORPHA:93400
Holoprosencephaly
Epicanthus, Thick eyebrow, Upslanted palpebral fissure, Highly arched eyebrow, Abnormality of the... ORPHA:2162
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380