Gene: Myo10 MGI:107716

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

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Ophthalmoscopy

14 Images

Eye Morphology

Images Slit Lamp

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Legacy Phenotype Associated Images

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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
Chorioretinal coloboma, Patchy hypo- and hyperpigmentation, Iris coloboma, Microcornea, White for... OMIM:601706
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, White f... ORPHA:2779
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract, Short thumb OMIM:274205
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Cognitive impairment, Brachydactyly, Rod-cone dystrophy OMIM:615995
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Cataract, Rod-cone dystrophy OMIM:300719
Loose Anagen Syndrome
Iris coloboma, Abnormal hair morphology, Abnormal hair whorl ORPHA:168
Hypomelanosis Of Ito
Hand polydactyly, Iris coloboma, Macular hypopigmented whorls, streaks, and patches, Radial devia... OMIM:300337
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma, Ocular anterior segment dysgenesis, Clinodactyly, Syndactyly, Peters ano... OMIM:610023
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract, Optic atrophy ORPHA:2253
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Abnormal anterior cham... ORPHA:42665
Terminal Osseous Dysplasia
Abnormality of skin pigmentation, Mesomelic arm shortening, Camptodactyly of finger, Abnormal han... OMIM:300244
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Holoprosencephaly, Iris coloboma, Bilateral microphthalmos, Microphthalmi... OMIM:611638
Dermochondrocorneal Dystrophy
Abnormality of the hand, Large hands, Corneal dystrophy ORPHA:79149
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Corneal op... OMIM:277950
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Camptosynpolydactyly, Complex
Small nail, Polydactyly, Camptodactyly, Nail dysplasia, Syndactyly, Toenail dysplasia, Cutaneous ... OMIM:607539
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Aniridia 3
Cataract OMIM:617142
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Developmental cataract, Aggressive behavior, Fair hair OMIM:618808
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Biemond Syndrome Ii
Preaxial hand polydactyly, Iris coloboma OMIM:210350
Woolly Hair
Hypopigmentation of hair, Abnormal retinal morphology, Slow-growing hair, Cataract, Sparse latera... ORPHA:170
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
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Corneal ... ORPHA:1067
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Curry-Jones Syndrome
Preaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Optic disc coloboma, I... ORPHA:1553
Optic Atrophy 3, Autosomal Dominant
Cataract, Tremor, Optic atrophy, Optic disc pallor OMIM:165300
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Postaxial pol... OMIM:614500
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Retinal ... ORPHA:1473
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract, Fragile nails ORPHA:254704
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Toe syndactyly, Radioulnar synostosis, Coloboma, Iris coloboma, Microcorn... ORPHA:921
Dermoids Of Cornea
Corneal opacity OMIM:304730
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus, Blue irides OMIM:606574
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair, Juvenile cataract OMIM:617251
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea, Retinal detachment OMIM:610202
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... ORPHA:1891
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Onychogryposis of fingernail, Sparse hair, Palmoplantar keratoderma, Fin... ORPHA:2251
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Gombo Syndrome
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Frontal bossing, ... OMIM:206920
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Norrie Disease
Shallow anterior chamber, Aggressive behavior, Dementia, Hypoplasia of the iris, Cataract, Retina... OMIM:310600
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypopigmentation o... ORPHA:2513
Acute Zonal Occult Outer Retinopathy
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... ORPHA:284454
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Cataract, Hand monodactyly, Split foot, Retinopathy OMIM:183800
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Abnormality of calvarial morphology, Corneal opacity, Hepatomegaly, Abnormality of the fontanelle... ORPHA:2432
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Abnormality iris morphology, Coloboma, Toe syndactyly, Cataract, Bullet-... ORPHA:1617
Apolipoprotein A-I Deficiency
Corneal opacity, Decreased HDL cholesterol concentration ORPHA:425
Erythrokeratodermia Variabilis
Hypermelanotic macule, Irregular hyperpigmentation, Abnormality of the nail, Patchy palmoplantar ... ORPHA:317
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Corneal opacity, Abnormality of the metacarpal bones, Abnormality of the metaphysi... ORPHA:2370
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal ero... OMIM:217800
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Elbow dislocatio... ORPHA:2741
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Photoreceptor layer loss on macular OCT, Macular scar, Attenua... ORPHA:179
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Developmental cataract, Progressive cataract, Duplication involving bones ... OMIM:246000
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Iris coloboma, Hyperpigmentation of t... ORPHA:3214
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Humero-Radial Synostosis
Chorioretinal coloboma, Tarsal synostosis, Elbow dislocation, Elbow ankylosis, Iris coloboma, Apl... ORPHA:3265
Dwarfism With Stiff Joints And Ocular Abnormalities
Short phalanx of finger, Delayed ossification of carpal bones, Cataract, Lower limb undergrowth, ... OMIM:127200
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body... OMIM:617294
Linear Verrucous Nevus Syndrome
Toe syndactyly, Iris coloboma, Sparse scalp hair, Cataract, Abnormal cornea morphology, Short met... ORPHA:2611
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Kahrizi Syndrome
Cataract, Elbow flexion contracture, Iris coloboma OMIM:612713
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Cataract, Retinal detachment OMIM:212550
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Elbow flexion contracture, Iris coloboma ORPHA:171860
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea, Microphthalmia, Coloboma OMIM:251505
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Finger syndactyly, Iris coloboma, Nail dysplasia, Cataract, Microcornea, ... ORPHA:139471
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Nathalie Syndrome
Cataract ORPHA:2663
Laurence-Moon Syndrome
Hand polydactyly, Finger syndactyly, Iris coloboma, Bilateral single transverse palmar creases, C... ORPHA:2377
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract, Short thumb, Short metacarpal ORPHA:2489
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigm... OMIM:619165
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Microphthalmia, Anophthalmia ORPHA:85275
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Gómez-López-Hernández Syndrome
Cognitive impairment, Alopecia of scalp, Toenail dysplasia, Corneal opacity ORPHA:1532
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Asteroid hyalosis, Short phalanx of finger, Retinal thinning, Cataract, Epiphyseal d... OMIM:132450
Mucolipidosis Iv
Progressive neurologic deterioration, Corneal opacity, Retinal degeneration, Opacification of the... OMIM:252650
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Peripheral retinal atrophy, Iris coloboma OMIM:615147
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Shoulder girdle muscle weakness, Cataract, Elevated circulating c... OMIM:609115
Morquio Syndrome C
Corneal opacity OMIM:252300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Frontal bossing, Abnormality of epiphysis morphology, Rhizomelia, Hemiatrophy, Sca... ORPHA:35173
Temtamy Syndrome
Chorioretinal coloboma, Iris coloboma, Genu varum, Short toe, Clinodactyly of the 5th finger, Bra... ORPHA:1777
Oculoauricular Syndrome
Coloboma, Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcor... OMIM:612109
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Wahab Syndrome
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... OMIM:615170
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Narrow palm, Small hand, Abnormality of ulnar me... ORPHA:177910
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity, P... ORPHA:137902
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Oculocerebrocutaneous Syndrome
Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Iris coloboma, Corneal opacity, ... ORPHA:1647
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Iris coloboma, Opacification ... OMIM:169550
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma OMIM:613703
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Atrichia, Spotty hypopigmentation, Short finger, Corneal opacit... ORPHA:1867
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Bardet-Biedl Syndrome 5
Polydactyly, Obesity, Syndactyly, Brachydactyly, Rod-cone dystrophy, Macular dystrophy OMIM:615983
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Chorioretinal coloboma, Preaxial polydactyly, Iris coloboma ORPHA:2921
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Sparse hair, Short 5th metacarpal, Uncombable hair, Abnormal... ORPHA:1264
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia ORPHA:1574
Mucolipidosis Type Iii
Large iliac wing, Hypoplastic inferior ilia, Corneal opacity, Abnormal hip bone morphology, Cogni... ORPHA:577
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614882
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Elbow dislocation, Elbow ankylosis, Corneal opacity, Hyp... ORPHA:2557
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Optic atrophy, Corneal dystrophy ORPHA:2572
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Ceroid Lipofuscinosis, Neuronal, 3
Dementia, Psychomotor deterioration, Cataract, Anxiety, Optic atrophy, Macular degeneration, Rod-... OMIM:204200
Brachydactyly Type A7
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... ORPHA:93397
Autosomal Dominant Keratitis
Aniridia, Coloboma, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacification of the co... ORPHA:2334
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Bowing of the legs, Anophthalmia, Abnormality of fibula morpho... ORPHA:93323
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Microphthalmia OMIM:248110
Triple A Syndrome
Palmoplantar keratoderma, Iris coloboma, Generalized hyperpigmentation, Abnormality of the hypoth... ORPHA:869
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Sh... ORPHA:1856
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Toe syndactyly, Ocu... ORPHA:999
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cataract, Microcornea, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Anophthalmia Plus Syndrome
Spina bifida, Blepharophimosis, Iris coloboma, Anophthalmia, Eyelid coloboma, Deviation of finger ORPHA:1104
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Attenuation of retinal blood vessels, Polydactyly, Postaxial polydact... OMIM:615986
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Cataract, Hirsutism, Congenital bilateral hip dislocation ORPHA:85288
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Coloboma OMIM:607906
Distal Trisomy 18Q
Camptodactyly of finger, Iris coloboma, Large hands, Bilateral single transverse palmar creases, ... ORPHA:1716
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Finger syndactyly, Abnormality of the elbow, Synophrys, Thick eyebrow, Cli... ORPHA:3268
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Short proximal phalanx of finger, Short toe, Short finger, Juvenile cataract, Short metacarpal, P... OMIM:191482
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning, Opacification of the ... OMIM:270200
Oculofaciocardiodental Syndrome
Genu valgum, Cubitus valgus, Highly arched eyebrow, Radioulnar synostosis, Broad palm, 2-3 toe sy... ORPHA:2712
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Hip dysplasia, Abnormal hair morphology, Iris coloboma, Ocular anterior segment dysgenesis, Short... OMIM:601427
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Ectopia lentis, Iris coloboma, Fingernail dysplasia ORPHA:1259
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Scapular winging, Heterochromia iridis, Premature graying of hair, Carpa... OMIM:148820
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... OMIM:251270
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Small hand, Abnormal hand morphology, Short foot OMIM:300261
Santos Syndrome
Oligodactyly, Genu valgum, Anonychia, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, M... OMIM:613005
Bardet-Biedl Syndrome 6
Polydactyly, Retinal dystrophy, Syndactyly, Rod-cone dystrophy, Obesity OMIM:605231
Gorlin Syndrome
Palmar pits, Melanocytic nevus, Iris coloboma, Cataract, Arachnodactyly, Brachydactyly ORPHA:377
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Orbital cyst, Anophthalmia, Microphthalmia, Alopecia, Eyelid coloboma OMIM:164180
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal femoral neck/head morphology, Abnormal vitreous humor morph... ORPHA:2788
Olmsted Syndrome 1
Sparse hair, Palmoplantar keratoderma, Corneal opacity, Nail dysplasia, Subungual hyperkeratosis,... OMIM:614594
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Polydactyly, Syndactyly, Abnormal hip bone morphology, Small f... ORPHA:294975
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Absent toenail, Hypoplastic toenails, Toe syndactyly, Anonychia, Symphal... ORPHA:1113
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Rhizomelia, Epicanthus, Long eyelashes, Ectopia pupillae, Cataract, Microcornea, Microp... OMIM:615877
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Abnormal eyelash morphology, Corneal opacity, Sparse or absent eyelashes... ORPHA:1794
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204100
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Aggressive behavior, Corneal opacit... OMIM:152950
Scheie Syndrome
Genu valgum, Corneal opacity, Retinal degeneration OMIM:607016
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides OMIM:103500
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Epicanthus, Cataract, Microcornea, Brachycephaly, Microphthalmia ORPHA:2528
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Broad thumb, Finger syndactyly, Synostosis of carpal ... OMIM:102510
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Brachydactyly, Ectopia lentis OMIM:613195
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Congenital Disorder Of Glycosylation, Type Id
Small nail, Iris coloboma, Clinodactyly of the 5th toe, Nail dysplasia, Clinodactyly, Joint contr... OMIM:601110
Dysequilibrium Syndrome
Cataract ORPHA:1766
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Hyperthreoninemia, Cataract, Fundus atrophy, Hyperthreoninuria OMIM:204000
Biemond Syndrome Type 2
Coloboma, Preaxial polydactyly, Microphthalmia, Hydrocephalus, Obesity ORPHA:141333
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Pelvis-Shoulder Dysplasia
Dislocated radial head, Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Retinal co... ORPHA:2839
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Absent fingernail, Short distal phalanx... ORPHA:140908
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Peripheral vitreous opacities,... OMIM:305390
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Optically empty vitreous, Retinal dots, Corneal g... OMIM:193230
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Pierpont Syndrome
Deep palmar crease, Blepharophimosis, Broad palm, Midface retrusion, Unilateral narrow palpebral ... OMIM:602342
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Arachnodactyly, Narrow palm, Pigmentary retinopathy OMIM:268050
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Broad thumb, Broad hallux phalanx, Corneal opacity, Coarse h... ORPHA:585
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Partial duplication of eyebrows, 2-3 toe syndactyly, 2-4 finger syndactyly, Long eyelashes OMIM:227210
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Lower limb undergrowth, Abnormality of femur morphology, Abnormality of epiphysis morph... ORPHA:2310
Cat-Eye Syndrome
Hip dysplasia, Chorioretinal coloboma, Iris coloboma ORPHA:195
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613154
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Corneal opacity, Cataract, Retinal detachment, Elevated circulating creatine kinase con... OMIM:613153
Renpenning Syndrome
Abnormal thumb morphology, Iris coloboma, Cataract, Abnormal hair laboratory examination, Alopeci... ORPHA:3242
Temtamy Syndrome
Chorioretinal coloboma, Highly arched eyebrow, Lens luxation, Iris coloboma, Ectopia lentis, Shor... OMIM:218340
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Neovascular Glaucoma
Retinal vein occlusion, Abnormal posterior eye segment morphology, Iris neovascularization, Abnor... ORPHA:94058
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Lateral humeral condyle aplasia, Elbow disloca... OMIM:164900
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Microphthalmia, Anophthalmia, Talipes equinovarus OMIM:613885
Goldberg-Shprintzen Megacolon Syndrome
Sparse scalp hair, Sparse and thin eyebrow, Iris coloboma, Finger syndactyly ORPHA:66629
Trisomy 13
Postaxial hand polydactyly, Calvarial skull defect, Abnormal eyelash morphology, Aplasia/Hypoplas... ORPHA:3378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus, Retinal dysplasia OMIM:614830
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Sparse eyelashes, Split hand, Camptodactyly, Sparse scalp hair, Syndactyly, Sparse and thin eyebr... OMIM:225280
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Hypopigmentation of ... OMIM:203200
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Aminoaciduria, Abnormal fingernail morphology ORPHA:2278
Urocanase Deficiency
Fair hair, Tremor, Blue irides, Aggressive behavior OMIM:276880
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea, R... ORPHA:83461
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Hidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Sparse axillary hair, Generalized hyperpigmentation, Fragile nails, ... ORPHA:189
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Broad thumb, 1-3 toe syndactyly, Broad hallux phalanx, Hirsutism, Trigonocephal... OMIM:175700
Phenylketonuria
Self-mutilation, Maternal hyperphenylalaninemia, Aggressive behavior, Hyperphenylalaninemia, Fair... OMIM:261600
Fish-Eye Disease
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Opacification of the corneal stro... OMIM:136120
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Sparse hair, Finger syndactyly, Ungual fibroma, Sparse or ab... ORPHA:1433
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Rhizomelia, Elevated circulating creatinine concentration, Cataract, Short foo... OMIM:614376
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Cat-Eye Syndrome (Type I)
Iris coloboma DECIPHER:42
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Chromosome 2Q35 Duplication Syndrome
Cutaneous syndactyly, 2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Duane Retraction Syndrome
Abnormal pupil morphology, Talipes equinovarus, Central heterochromia, Irregular hyperpigmentatio... ORPHA:233
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, Poliosis, White forelock OMIM:277740
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy OMIM:616947
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia, Coloboma OMIM:613094
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Abnormal eyebrow morphology, Heterochromia... ORPHA:2885
Microspherophakia-Metaphyseal Dysplasia
Irregular epiphyses, Microspherophakia, Lens coloboma, Metaphyseal dysplasia, Retinal detachment,... OMIM:157151
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, A... ORPHA:290
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cognitive impairment, Cataract, Optic atrophy, Dementia ORPHA:329314
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Remnants of the hyaloid vascular system, Persistent pupill... OMIM:221900
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Multiple Epiphyseal Dysplasia, Beighton Type
Hip dysplasia, Genu valgum, Asteroid hyalosis, Abnormalities of the metaphyses of the hand, Abnor... ORPHA:166011
Cohen Syndrome
Abnormality of skin pigmentation, Genu valgum, Abnormality of retinal pigmentation, Cubitus valgu... ORPHA:193
Autosomal Recessive Stickler Syndrome
Genu valgum, Abnormality of epiphysis morphology, Cataract, Vitreoretinopathy, Retinal detachment... ORPHA:250984
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Lacrimal punctal atresia, Sparse eyebrow, Coloboma, Widow's peak, Abnormal ey... ORPHA:2399
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Mulibrey Nanism
Pigmentary retinopathy, Iris coloboma, Astigmatism, Single transverse palmar crease, Thickened co... OMIM:253250
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Classic Phenylketonuria
Tremor, Hypopigmentation of hair, Hyperphenylalaninemia, Self-injurious behavior, Cataract, Motor... ORPHA:79254
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, W... ORPHA:79435
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Corneal opacity, Limb undergrowth, Coarse metaphyseal trabecularization, Sho... OMIM:618961
Genitourinary And/Or Brain Malformation Syndrome
Holoprosencephaly, Upslanted palpebral fissure, Acrania, Epicanthus, Syndactyly, Short palpebral ... OMIM:618820
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Premature graying of hair, Abnormality of the optic nerve, Generalized ... ORPHA:33445
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy, Microphthalmia, Failure to thrive OMIM:274270
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation,... ORPHA:171844
Flynn-Aird Syndrome
Dementia, Cataract, Alopecia of scalp, Alopecia, Rod-cone dystrophy OMIM:136300
Crouzon Disease
Melanocytic nevus, Iris coloboma, Conjunctivitis, Hypopigmented skin patches, Optic atrophy ORPHA:207
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Absent toenail, Palmoplantar blistering, Abnormal fingernail morphology, Ridged nail, Hyperpigmen... ORPHA:89838
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Blepharophimosis, Camptodactyly, Hirsutism, Second metatarsal posteriorly pla... OMIM:214150
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Hyperornithinemia, Abnormal hair morphology, Chorioretinal atrophy, ... ORPHA:414
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory a... OMIM:120200
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Hydrocephalus, Coloboma, Retinal dysplasia ORPHA:324416
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract, Hip dislocation OMIM:212540
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Pierpont Syndrome
Deep palmar crease, Short finger, High anterior hairline, Narrow palpebral fissure, Excessive wri... ORPHA:487825
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Curry-Jones Syndrome
Cutaneous syndactyly of toes, Preaxial hand polydactyly, Broad thumb, Craniosynostosis, Coloboma,... OMIM:601707
Acro-Renal-Ocular Syndrome
Radial club hand, Coloboma, Optic disc coloboma, Broad hallux phalanx, Iris coloboma, Sandal gap,... ORPHA:959
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Frontal bossing, Narrow palpebral fissure, Umbilical hernia, Decreased bod... OMIM:600325
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Upslanted palpebral fissure, Epicanthus, Sparse and thin eyebrow, Bra... ORPHA:66625
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Craniosynostosis, Finger sy... ORPHA:65759
Joubert Syndrome 22
Postaxial hand polydactyly, Coloboma, 2-3 toe syndactyly, Retinal dysplasia, Microphthalmia, Post... OMIM:615665
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Short metatarsal, Short phalanx of finger, Sparse hair, Absent pubic hair, Absent axillary hair, ... OMIM:211370
Eem Syndrome
Abnormality of retinal pigmentation, Finger syndactyly, Absent eyebrow, Sparse scalp hair, Sparse... ORPHA:1897
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Retinal fold, Subretinal fluid, Microphthalmia ORPHA:209956
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Hartsfield Syndrome
Craniosynostosis, Split hand, Aplasia/Hypoplasia of the radius, Ptosis, Telecanthus, Microphthalm... ORPHA:2117
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Retinal dystrophy ORPHA:3156
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Small hand, Cutaneous syndactyly between fingers 2 and 5, Ab... OMIM:619339
Adams-Oliver Syndrome
Absent hand, Calvarial skull defect, Split hand, Short distal phalanx of finger, Abnormality of t... ORPHA:974
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Short 1st metacarpal, Single transverse palmar crease, Short distal ... OMIM:601957
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Coloboma, Camptodactyly, Widow's ... OMIM:136760
Bardet-Biedl Syndrome 4
Polydactyly, Retinal degeneration, Syndactyly, Brachydactyly, Rod-cone dystrophy, Obesity OMIM:615982
Leber Congenital Amaurosis 8
Keratoconus, Choriocapillaris atrophy, Cataract OMIM:613835
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse hair, Curly hair, Corneal opacity, Sparse and thin eyebrow, Brittle hair, Pili torti OMIM:602400
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Leber Congenital Amaurosis 6
Attenuation of retinal blood vessels, Keratoconus, Cataract OMIM:613826
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract, Irritability OMIM:617393
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Retinal coloboma, Microphthalmia, Rod-cone dystrophy, Obesity OMIM:601794
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Peripheral vitreoretinal degeneration, Lens subluxation OMIM:614292
Bartsocas-Papas Syndrome
Hypoplastic toenails, Toe syndactyly, Finger syndactyly, Corneal opacity, Alopecia totalis, Aplas... ORPHA:1234
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
15Q11Q13 Microduplication Syndrome
Downslanted palpebral fissures, Clinodactyly of the 5th finger, Epicanthus, Finger syndactyly ORPHA:238446
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, White hair, Partial albinism, Retinopathy, Hype... ORPHA:79476
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Microcephalic Primordial Dwarfism, Toriello Type
Short proximal phalanx of thumb, Short middle phalanx of finger, Short proximal phalanx of hallux... OMIM:251190
Cherubism
Marcus Gunn pupil, Macular scar, Optic neuropathy OMIM:118400
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Talipes equinovarus, Microphthalmia, Rocker bottom foot OMIM:616570
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Cataract, Small hand, Talipes equinovarus, Sh... ORPHA:85172
Warburg Micro Syndrome 1
Developmental cataract, Overlapping toe, Facial hypertrichosis, Ptosis, Hypertrichosis, Microphth... OMIM:600118
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... OMIM:611377
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, Preaxial hand polydactyly, Toe syndactyly, Finger syndac... ORPHA:380
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Elbow dislocation, Bilateral single transverse palmar creases, Ab... ORPHA:1106
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... ORPHA:352731
Kapur-Toriello Syndrome
Overlapping fingers, Camptodactyly of finger, Retinal coloboma, Iris coloboma, Bilateral single t... OMIM:244300
Joint Laxity, Short Stature, And Myopia
Chorioretinal coloboma, Talipes equinovarus, Iris coloboma, Retinal detachment OMIM:617662
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Split hand, Carpal bone hypoplasia, Retinal degeneration, Increased serum... OMIM:252600
Developmental And Epileptic Encephalopathy 35
Cataract, Irritability, Limb tremor OMIM:616647
Lissencephaly 8
Talipes equinovarus, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:617255
Clouston Syndrome
Small nail, Onycholysis, Sparse eyelashes, Absent pubic hair, Absent axillary hair, Slow-growing ... OMIM:129500
Craniodigital-Intellectual Disability Syndrome
Thick hair, Finger syndactyly, Long eyelashes, Thick eyebrow, Brachycephaly, Spina bifida occulta... ORPHA:1514
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Bowing of the long bones, Sandal gap, Cataract, Abnormal hip bone morpholo... ORPHA:2725
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Widely spaced toes, Anonychia, Absent fingernail, Sandal gap, Alopecia totalis,... OMIM:609638
Filippi Syndrome
Sparse hair, Finger clinodactyly, Decreased body weight, Hypertrichosis, Frontal hirsutism, 2-4 t... OMIM:272440
Cofs Syndrome
Camptodactyly of finger, Abnormality of retinal pigmentation, Cataract, Microphthalmia, Intrauter... ORPHA:1466
Focal Dermal Hypoplasia
Abnormality of skin pigmentation, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Chori... ORPHA:2092
Distal Monosomy 13Q
Iris coloboma, Abnormality of the metacarpal bones, Aplasia/Hypoplasia of the thumb, Optic atroph... ORPHA:1590
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Low anterior hairline, Long eyelashes, Synophrys, Thick eyebrow, Anophthalmia, Telecanthus ORPHA:411986
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Microphthalmia, Retinal degeneration OMIM:267760
Microphthalmia, Isolated 3
Ankyloblepharon, Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Ptosis, Microphthalmia, Coloboma OMIM:120433
Oculodentodigital Dysplasia, Autosomal Recessive
4-5 finger syndactyly, Persistent pupillary membrane, Large fontanelles, Frontal bossing, Downsla... OMIM:257850
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Bresek Syndrome
Postaxial hand polydactyly, Iris coloboma, Alopecia, Optic nerve hypoplasia ORPHA:85284
Sandestig-Stefanova Syndrome
Rocker bottom foot, Highly arched eyebrow, Developmental cataract, Camptodactyly, Sparse medial e... OMIM:618804
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Fingernail dysplasia, Curved distal phalanges of the ha... ORPHA:3152
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Hydrocephalus, Dislocated radial he... OMIM:260660
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Hip dislocation OMIM:608763
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... OMIM:609432
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Cataract, Retinal detachment, Arachnodactyly, Long fingers OMIM:604841
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation OMIM:216820
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Nevus Comedonicus Syndrome
Toe syndactyly, Abnormal hair morphology, Finger syndactyly, Preaxial polydactyly, Cataract ORPHA:64754
Frontofacionasal Dysplasia
Brushfield spots, Iris coloboma, Cataract, Microcornea, Aplasia/Hypoplasia of the eyebrow, Absent... ORPHA:1791
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Branchio-Oculo-Facial Syndrome
Preaxial hand polydactyly, Coloboma, Premature graying of hair, Iris coloboma, Fingernail dysplas... ORPHA:1297
Foveal Hypoplasia 2
Foveal hyperpigmentation, Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia OMIM:609218
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Short Syndrome
Sparse hair, Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Alopec... ORPHA:3163
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... OMIM:610256
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc ORPHA:65
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
3Q29 Microduplication Syndrome
Aniridia, Toe syndactyly, Camptodactyly of toe, Iris coloboma, Sandal gap, Cataract, Sclerocornea ORPHA:251038
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Upper eyelid coloboma, Widow's peak, Lower eyelid coloboma, Ectopic lacrimal ... OMIM:167730
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Micromelia OMIM:273680
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Astigmatism, Peripapil... OMIM:616188
Congenital Hydrocephalus
Optic atrophy, Iris coloboma ORPHA:2185
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Clinodactyly, Iris coloboma, Ectrodactyly OMIM:147950
Walker-Warburg Syndrome
Chorioretinal dysplasia, Anophthalmia, Iris coloboma, Retinal dystrophy, Abnormality of the optic... ORPHA:899
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Manitoba Oculotrichoanal Syndrome
Abnormal hair morphology, Anophthalmia, Nasolacrimal duct obstruction, Microphthalmia, Eyelid col... OMIM:248450
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity, Palmoplantar keratoderma ORPHA:578
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Aniridia, Corneal dystrophy, Mitral regurgitation, Anophthalmia, Umbilic... ORPHA:1101
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614876
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Hypoplastic toenails, Short 5th metacarpal, 3-4 fin... ORPHA:370010
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cognitive impairment, Cataract OMIM:615418
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Craniosynostosis And Dental Anomalies
Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis, Sagittal craniosynostosis... OMIM:614188
Trisomy 1Q
Camptodactyly of finger, Preaxial hand polydactyly, Toe syndactyly, Hypoplastic toenails, Frontal... ORPHA:261344
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... ORPHA:93409
Wt Limb-Blood Syndrome
Irregular hyperpigmentation, Short phalanx of finger, Radioulnar synostosis, Joint contracture of... OMIM:194350
Ectodermal Dysplasia-Syndactyly Syndrome 1
Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Palmar hyperkeratosis, Sparse ... OMIM:613573
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Freckling, Giant melanosomes in melanocytes, ... ORPHA:54
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
2Q31.1 Microdeletion Syndrome
Abnormality of tibia morphology, Coloboma, Optic disc coloboma, Broad hallux phalanx, Iris colobo... ORPHA:251014
Incontinentia Pigmenti
Abnormality of skin pigmentation, Absent hand, Irregular hyperpigmentation, Ridged fingernail, Co... ORPHA:464
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Large fontanelles, Abnormality of epiphysis morphology, Frontal bossing, Rhizomelia, Platybasia, ... ORPHA:93267
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Achondrogenesis Type 2
Delayed pubic bone ossification, Delayed proximal femoral epiphyseal ossification, Abnormal vitre... ORPHA:93296
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Nathalie Syndrome
Cataract OMIM:255990
Congenital Varicella Syndrome
Cataract, Micromelia ORPHA:291
Congenital Sialidosis Type 2
Developmental cataract, Polydactyly, Yellow/white lesions of the retina, Corneal opacity, General... ORPHA:93400
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Hemiatrophy of upper limb, Wide anterior fontanel, Frontal... ORPHA:163649
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Ocular anterior segment dysgenesis, Microcornea, Retinal detachment, Sclerocornea OMIM:615145
Developmental And Epileptic Encephalopathy 73