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Gene: Myo10 MGI:107716

Gene Summary

Name:

myosin X

Synonyms:

myosin-X, D15Ertd600e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal iris morphology	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	5.18×10^-06
abnormal retina morphology	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	4.58×10^-05
corneal opacity	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	5.30×10^-13
impaired pupillary reflex	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	6.91×10^-06
abnormal cornea morphology	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	3.62×10^-11
fused phalanges	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	9.06×10^-21
abnormal digit morphology	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	9.06×10^-21
abnormal lens morphology	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	1.19×10^-07
abnormal response to new environment	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	7.34×10^-05
abnormal tail morphology	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	4.78×10^-05
fused cornea and lens	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	1.39×10^-14
abnormal coat/hair pigmentation	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	1.78×10^-14
persistence of hyaloid vascular system	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	3.04×10^-15
cataract	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	1.19×10^-07
decreased circulating creatinine level	Myo10^{tm2(KOMP)Wtsi}	HOM	Early adult	1.30×10^-05

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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 Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

12 Images

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X-ray

XRay Images Forepaw

14 Images

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Eye Morphology

Images Ophthalmoscopy

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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Eye Morphology

Images Slit Lamp

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Myo10^{tm2(KOMP)Wtsi}
WT, Male, WTSI

View all 83 images

Myo10^{tm2(KOMP)Wtsi}
abnormal dorsoventral coat patterning, abnormal ventral coat pigmentation, HOM, Male, WTSI

Myo10^{tm2(KOMP)Wtsi}
interdigital webbing, HOM, Male, WTSI

Myo10^{tm2(KOMP)Wtsi}
abnormal coat/hair pigmentation, abnormal dorsoventral coat patterning, HOM, Female, WTSI

Myo10^{tm2(KOMP)Wtsi}
interdigital webbing, HOM, Female, WTSI

View all 40 images

Myo10^{tm2(KOMP)Wtsi}
Fused cornea and lens, HOM, Female, WTSI

Myo10^{tm2(KOMP)Wtsi}
persistence of hyaloid vascular system, HOM, Male, WTSI

Myo10^{tm2(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.

Human diseases associated with Myo10 (0 diseases)
Human diseases predicted to be associated with Myo10 (1596 diseases)

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	Matching phenotypes	Source
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho...	OMIM:601706
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, W...	ORPHA:2779
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Short thumb, Cataract, Chorioretinal coloboma	OMIM:274205
Loose Anagen Syndrome	Abnormal hair morphology, Abnormal hair whorl, Iris coloboma	ORPHA:168
Hypomelanosis Of Ito	Syndactyly, Alopecia, Cataract, Macular hypopigmented whorls, streaks, and patches, Hand polydact...	OMIM:300337
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Clinodactyly, Iris colo...	OMIM:610023
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract	OMIM:300719
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Foveal Hypoplasia-Presenile Cataract Syndrome	Generalized hyperpigmentation, Cataract, Optic atrophy	ORPHA:2253
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham...	ORPHA:42665
Winchester Syndrome	Corneal opacity, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Hirsutism	OMIM:277950
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Dermochondrocorneal Dystrophy	Large hands, Corneal dystrophy, Abnormality of the hand	ORPHA:79149
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia...	OMIM:611638
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic...	ORPHA:1553
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Galactosialidosis	Cherry red spot of the macula, Corneal opacity	ORPHA:351
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Cataract, Retinal dystrophy, Brachydactyly	OMIM:615995
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Camptosynpolydactyly, Complex	Syndactyly, Cutaneous syndactyly, Polydactyly, Nail dysplasia, Camptodactyly, Small nail, Toenail...	OMIM:607539
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Woolly Hair	Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormal retinal morphology,...	ORPHA:170
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Biemond Syndrome Ii	Preaxial hand polydactyly, Iris coloboma	OMIM:210350
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o...	OMIM:619947
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Ulnar deviation of finger, Microcornea, Coloboma, Radioulnar synostosi...	ORPHA:921
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Hypopigmented skin patches, Ri...	ORPHA:2251
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Hypotriglyceridemia, Short...	ORPHA:85167
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Osteolysis involving bones of the upper limbs, Osteolysis involving bones o...	ORPHA:88630
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Uncombable Hair Syndrome 2	Uncombable hair, Juvenile cataract, Pili canaliculi	OMIM:617251
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
2Q24 Microdeletion Syndrome	Cataract, Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ...	ORPHA:1617
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt...	OMIM:206920
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Erythrokeratodermia Variabilis	Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Tapered finger, Abnormal hair morphol...	ORPHA:317
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morph...	ORPHA:2370
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Increased LDL cholesterol concentration, Fair hair, Developmental cataract	OMIM:618808
Oculocerebrocutaneous Syndrome	Alopecia, Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Orbital cyst, Eyelid c...	OMIM:164180
Microcephaly-Albinism-Digital Anomalies Syndrome	Aplasia/Hypoplasia of the distal phalanges of the toes, Hypopigmentation of the skin, Short dista...	ORPHA:2513
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Split hand, Hand monodactyly, Split foot, Retinopathy	OMIM:183800
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero...	OMIM:217800
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Radioulnar dislocation, ...	ORPHA:2741
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ...	ORPHA:189
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp...	OMIM:617294
Spastic Paraparesis And Deafness	Tremor, Cataract	OMIM:312910
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Mucolipidosis Iv	Corneal opacity, Progressive neurologic deterioration, Optic atrophy, Opacification of the cornea...	OMIM:252650
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Leg, Absence Deformity Of, With Congenital Cataract	Duplication involving bones of the feet, Progressive cataract, Optic nerve dysplasia, Development...	OMIM:246000
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma, Orbital cyst, Microcornea	OMIM:251505
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Microcornea, Postaxial fo...	ORPHA:139471
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Chorioretinal coloboma, Ab...	ORPHA:3265
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Short metacarpal, Toe syndactyly, Cataract, Abnormal cornea morphology, Iris c...	ORPHA:2611
Nathalie Syndrome	Cataract	ORPHA:2663
Laurence-Moon Syndrome	Finger syndactyly, Cataract, Bilateral single transverse palmar creases, Hand polydactyly, Iris c...	ORPHA:2377
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short thumb, Short metacarpal, Cataract, Chorioretinal coloboma	ORPHA:2489
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigm...	OMIM:619165
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Leukoencephalopathy With Vanishing White Matter 2	Memory impairment, Cataract, Optic atrophy	OMIM:620312
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Tapered finger, Spotty hyp...	ORPHA:1867
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Gómez-López-Hernández Syndrome	Toenail dysplasia, Alopecia of scalp, Corneal opacity, Cognitive impairment	ORPHA:1532
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Cataract, Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Sho...	OMIM:132450
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow...	OMIM:225280
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis morpholo...	ORPHA:177910
Triple A Syndrome	Generalized hyperpigmentation, Optic atrophy, Palmoplantar keratoderma, Abnormality of the hypoth...	ORPHA:869
Temtamy Syndrome	Brachydactyly, Short toe, Chorioretinal coloboma, Clinodactyly of the 5th finger, Iris coloboma, ...	ORPHA:1777
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Adams-Oliver Syndrome 4	Hypoplastic toenails, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd toe, ...	OMIM:615297
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly, Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Vogt-Koyanagi-Harada Disease	Retinal detachment, Sparse scalp hair, Cataract, Abnormal eyebrow morphology, Poliosis, Abnormal ...	ORPHA:3437
Morquio Syndrome C	Corneal opacity	OMIM:252300
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Sho...	OMIM:609115
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Mucolipidosis Type Iii	Corneal opacity, Hypoplastic inferior ilia, Cognitive impairment, Abnormal hip bone morphology, L...	ORPHA:577
Bardet-Biedl Syndrome 5	Syndactyly, Obesity, Polydactyly, Macular dystrophy, Rod-cone dystrophy, Brachydactyly	OMIM:615983
Peroxisome Biogenesis Disorder 10A (Zellweger)	Epiphyseal stippling, Cataract	OMIM:614882
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Corneal opacity, Abnormal fingernail mor...	ORPHA:1647
Mietens Syndrome	Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Elbow dislocation, M...	ORPHA:2557
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Cataract, Talipes equinovarus, Hirsutism	ORPHA:85288
Galactosemia Ii	Cataract, Hypergalactosemia	OMIM:230200
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co...	ORPHA:2334
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Ermine Phenotype	Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Astigmatis...	ORPHA:999
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the hand, Sparse hair, Uncombable hair, Juven...	ORPHA:1264
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis	ORPHA:1259
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ...	ORPHA:79414
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of th...	ORPHA:3268
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida, Deviation of finger, Eyelid coloboma, Blepharophimosis, Iris coloboma	ORPHA:1104
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Abnormal anterio...	ORPHA:93323
Scheie Syndrome	Corneal opacity, Retinal degeneration, Genu valgum	OMIM:607016
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Optic disc coloboma, Hypoplas...	OMIM:169550
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Short thumb, 2-3 toe syndact...	ORPHA:2712
Distal Duplication 18Q	Arachnodactyly, Camptodactyly of finger, Abnormal hair pattern, Deviation of finger, Large hands,...	ORPHA:1716
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Tremor, Elevated circulating phytanic acid concentration, Depression, Pigmentary retino...	OMIM:614307
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Short foot, Abnormal hand morphology, Cataract, Small hand	OMIM:300261
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Catara...	OMIM:615986
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment, Hypoplasia of the ulna, Cataract, Broad hallux, Limited elbow extension, Shor...	ORPHA:1856
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly, Hydrocephalus	OMIM:615938
Frontonasal Dysplasia 1	Epicanthus, Brachydactyly, Cataract, Postaxial hand polydactyly, Widow's peak, Anterior basal enc...	OMIM:136760
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo...	ORPHA:573
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Crumpled long bones, Corneal opacity, Metaphyseal widening, Abnormal vitreous...	ORPHA:2788
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Waardenburg Syndrome, Type 3	Scapular winging, Partial albinism, Camptodactyly of finger, Synophrys, Blue irides, Hypopigmente...	OMIM:148820
Ceroid Lipofuscinosis, Neuronal, 3	Psychomotor deterioration, Cataract, Optic atrophy, Macular degeneration, Dementia, Rod-cone dyst...	OMIM:204200
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Abnormal hair morphology, Short foot, Hip dysplasia, Ocular anterior segment dysgenesis, Iris col...	OMIM:601427
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Oculomaxillofacial Dysostosis	Corneal opacity, Camptodactyly of finger, Abnormal eyelash morphology, Abnormality of the humerus...	ORPHA:1794
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Gorlin Syndrome	Cataract, Arachnodactyly, Palmar pits, Melanocytic nevus, Iris coloboma, Brachydactyly	ORPHA:377
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Small for gestational age, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal h...	ORPHA:294975
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Microcornea, Peripheral retinal atrophy, Iris coloboma	OMIM:615147
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma	OMIM:148200
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Developmental cataract, Coloboma, Retinal dysplasia, Micr...	ORPHA:324416
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Microcephaly-Microcornea Syndrome, Seemanova Type	Epicanthus, Cataract, Brachycephaly, Upslanted palpebral fissure, Microcornea, Microphthalmia	ORPHA:2528
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Joubert Syndrome 15	Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Retinopathy	OMIM:614464
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
Anencephaly 2	Anophthalmia, Anencephaly, Short palpebral fissure	OMIM:619452
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly	ORPHA:2935
Aphalangy-Syndactyly-Microcephaly Syndrome	Hypoplastic fingernail, Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal...	ORPHA:1113
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract, Optic atrophy, Depression, Dementia, Cognitive impairment	ORPHA:329314
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Pierpont Syndrome	Prominent fingertip pads, Telecanthus, Decreased body weight, Short toe, High anterior hairline, ...	OMIM:602342
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Anophthalmia, Rhizomelia, Cataract, Sclerocornea, 2-3 toe syndactyly, Microcornea, Co...	OMIM:615877
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Aplasia/Hypoplasia...	ORPHA:2839
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Classic Phenylketonuria	Hypopigmentation of hair, Cataract, Tremor, Depression, Attention deficit hyperactivity disorder,...	ORPHA:79254
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Broad hallux phalanx, Cataract, Corneal opacity, Optic atrop...	ORPHA:585
White Forelock With Malformations	Aplasia/Hypoplasia of the distal phalanges of the toes, White forelock, Poliosis	OMIM:277740
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye...	OMIM:167730
Congenital Disorder Of Glycosylation, Type Id	Long fingers, Optic atrophy, Talipes equinovarus, Small nail, Nail dysplasia, Clinodactyly, Joint...	OMIM:601110
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Attenuation of retinal blood vessels, Cataract, Rhizomelia, Supernumerary nipple, Short iliac bon...	OMIM:614376
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Cat-Eye Syndrome	Hip dysplasia, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninur...	OMIM:204000
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Fibular hypoplasia, Radi...	OMIM:164900
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Cataract, Abnormal fingernail morphology	ORPHA:2278
Temtamy Syndrome	Highly arched eyebrow, Ectopia lentis, Lens luxation, Hip dislocation, Short 2nd toe, Talipes equ...	OMIM:218340
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v...	ORPHA:94058
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth...	OMIM:613885
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Cataract, Abnormal thumb morphology, Thin eyebrow, Clino...	ORPHA:3242
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration...	OMIM:613153
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly, Obesity, Coloboma, Microphthalmia	ORPHA:141333
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Absence Deformity Of Leg-Cataract Syndrome	Abnormal epiphysis morphology, Cataract, Abnormal femur morphology, Lower limb undergrowth	ORPHA:2310
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Finger syndactyly, Abnormal fingernail morphology, Supernume...	ORPHA:1433
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Hartsfield Syndrome	Encephalocele, Telecanthus, Craniosynostosis, Split hand, Lobar holoprosencephaly, Aplasia/Hypopl...	ORPHA:2117
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Talipes equinovarus, Re...	OMIM:616171
Cat-Eye Syndrome (Type I)	Iris coloboma	DECIPHER:42
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor...	OMIM:221900
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Corneal opacity, Wrist swelling, Osteolysis involving tarsal bones, ...	OMIM:166300
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Goldberg-Shprintzen Megacolon Syndrome	Sparse eyebrow, Finger syndactyly, Sparse scalp hair, Iris coloboma	ORPHA:66629
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Trisomy 13	Anophthalmia, Cataract, Abnormal eyelash morphology, Calvarial skull defect, Postaxial hand polyd...	ORPHA:3378
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Iris coloboma	ORPHA:139450
Adams-Oliver Syndrome	Absent fingernail, Sparse hair, Encephalocele, Finger syndactyly, Alopecia, Portal hypertension, ...	ORPHA:974
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Microphthalmia, Isolated 4	Microphthalmia, Coloboma, Postaxial polydactyly	OMIM:613094
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Cohen Syndrome	Abnormality of retinal pigmentation, Finger syndactyly, Chorioretinal dystrophy, Arachnodactyly, ...	ORPHA:193
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
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	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla...	OMIM:613573
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, A...	ORPHA:290
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Absent r...	ORPHA:233
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati...	ORPHA:171844
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Failure to thrive, Optic atrophy, Coloboma	OMIM:274270
Mulibrey Nanism	Corneal dystrophy, Single transverse palmar crease, Thickened cortex of long bones, Pigmentary re...	OMIM:253250
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair...	ORPHA:33445
Morm Syndrome	Cataract, Retinal dystrophy, Retinal atrophy	ORPHA:75858
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Retinal dysplasia	OMIM:614830
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Joint Laxity, Short Stature, And Myopia	Talipes equinovarus, Retinal detachment, Iris coloboma, Chorioretinal coloboma	OMIM:617662
Frontofacionasal Dysplasia	Encephalocele, Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, ...	ORPHA:1791
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul...	ORPHA:166011
Carpenter Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Cloverleaf skull, Turricephaly, Craniosynostosis, ...	ORPHA:65759
Autosomal Recessive Stickler Syndrome	Retinal detachment, Epiphyseal dysplasia, Cataract, Genu valgum, Astigmatism, Vitreoretinopathy, ...	ORPHA:250984
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Microphthalmia, Syndromic 12	Neonatal death, Microphthalmia, Anophthalmia	OMIM:615524
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
2Q31.1 Microdeletion Syndrome	Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, Coloboma, Shor...	ORPHA:251014
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Dystrophic toenail, Pal...	ORPHA:89838
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Abnormal hair morphology, ...	ORPHA:414
Phenylketonuria	Maternal hyperphenylalaninemia, Cataract, Blue irides, Depression, Irritability, Attention defici...	OMIM:261600
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Pierpont Syndrome	Telecanthus, Small for gestational age, Short toe, Brachycephaly, Microcornea, Narrow palpebral f...	ORPHA:487825
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Acro-Renal-Ocular Syndrome	Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, Hypoplasia of ...	ORPHA:959
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Retinal dys...	OMIM:615665
Flynn-Aird Syndrome	Alopecia, Cataract, Rod-cone dystrophy, Dementia, Alopecia of scalp	OMIM:136300
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Epicanthus, Acrania, Upslanted palpebral fissure, Astigmatism, Holoprosencephaly, Epi...	OMIM:618820
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Hand tremor	ORPHA:401830
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Corneal opacity, Metaphyseal widening, Squared iliac bones,...	OMIM:618961
Crouzon Syndrome	Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Conjunctivitis, Iris coloboma	ORPHA:207
Bardet-Biedl Syndrome 4	Syndactyly, Obesity, Polydactyly, Rod-cone dystrophy, Retinal degeneration, Brachydactyly	OMIM:615982
Cerebrooculonasal Syndrome	Epicanthus, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, Brachycep...	ORPHA:66625
Harel-Yoon Syndrome	Corneal opacity, Optic atrophy, Developmental cataract, Hip dysplasia, Dystonia	OMIM:617183
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Telecanthus, Anophthalmia, Synophrys, Low anterior hairline, Long eyelashes, Thick eyebrow	ORPHA:411986
Griscelli Syndrome Type 1	Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iris hypopi...	ORPHA:79476
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals	OMIM:219750
Senior-Loken Syndrome	Cone-shaped epiphysis, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy	ORPHA:3156
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Brachydactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Frontal bo...	OMIM:600325
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Small hand, Antecubital pterygium, Popliteal pt...	OMIM:619339
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Epicanthus, Downslanted palpebral fissures	ORPHA:238446
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of toe, Hypopigmentation of the skin, Brachydactyly, Single transverse palma...	OMIM:601957
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Corneal opacity, Alopecia totalis, Aplasia/Hypoplasia of the d...	ORPHA:1234
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Zika Virus Disease	Macular atrophy, Wrist swelling, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abno...	ORPHA:448237
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Peripapil...	OMIM:616188
Greig Cephalopolysyndactyly Syndrome	Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux phalanx, Broad hallux, 1-3 toe s...	OMIM:175700
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
1Q21.1 Microduplication Syndrome	Cataract, Hip dislocation, Hip dysplasia, Talipes equinovarus, Attention deficit hyperactivity di...	ORPHA:250994
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob...	OMIM:212550
Eem Syndrome	Abnormality of retinal pigmentation, Finger syndactyly, Sparse scalp hair, Absent eyebrow, Ectrod...	ORPHA:1897
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly	OMIM:618392
Developmental And Epileptic Encephalopathy 35	Irritability, Cataract, Limb tremor	OMIM:616647
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy	OMIM:118400
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Warburg Micro Syndrome 1	Ptosis, Overlapping toe, Optic atrophy, Developmental cataract, Microcornea, Facial hypertrichosi...	OMIM:600118
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Absent fingernail, Neonatal death, ...	OMIM:609638
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Ankyloblepharon, Sclerocornea	OMIM:611038
Branchio-Oculo-Facial Syndrome	Cataract, Preaxial hand polydactyly, Microcornea, Premature graying of hair, Coloboma, Fingernail...	ORPHA:1297
Cerebrooculonasal Syndrome	Encephalocele, Frontal bossing, Epicanthus, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasi...	OMIM:605627
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	OMIM:601794
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Sparse eyebrow, Alopecia of scalp, Cafe-au-lait spot, Iris coloboma, Adducted t...	OMIM:618874
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Craniotelencephalic Dysplasia	Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, O...	ORPHA:1528
Olmsted Syndrome 1	Subungual hyperkeratosis, Autoamputation of digits, Corneal opacity, Palmoplantar keratoderma, Na...	OMIM:614594
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Exudative Vitreoretinopathy 6	Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atr...	OMIM:616468
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa...	OMIM:602400
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Curry-Jones Syndrome	Bicoronal synostosis, Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydact...	OMIM:601707
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Increased serum beta-hexosaminidase, Hyperopic as...	OMIM:252600
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Telecanthus, Broad hallux phalanx, Toe syndactyly, Frontal bossing, Craniosyno...	ORPHA:380
Focal Dermal Hypoplasia	Finger syndactyly, Alopecia, Toe syndactyly, Corneal opacity, Abnormal palmar dermatoglyphics, Ca...	ORPHA:2092
Clouston Syndrome	Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e...	OMIM:129500
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Incontinentia Pigmenti	Abnormal hand morphology, Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology,...	ORPHA:464
Wilson-Turner Syndrome	Cataract, Tapered finger, Small hand, Short foot, Emotional lability, Thick eyebrow	ORPHA:3459
Kapur-Toriello Syndrome	Cataract, Single transverse palmar crease, Camptodactyly of finger, Short thumb, Low posterior ha...	OMIM:244300
Stickler Syndrome, Type V	Retinal detachment, Cataract, Vitreoretinopathy	OMIM:614284
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Telecanthus, Optic nerve hypoplasia, Broad proximal phalanges of the hand, Abnor...	OMIM:607597
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Thick hair, Abnormal hair pattern, Brachycephaly, Long eyelashes, Spina bifida...	ORPHA:1514
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra...	OMIM:194350
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Stickler Syndrome, Type Ii	Retinal detachment, Cataract, Arachnodactyly, Long fingers, Abnormal vitreous humor morphology	OMIM:604841
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Sclerosteosis	Finger syndactyly, Optic atrophy, 2-3 finger syndactyly, Curved distal phalanges of the hand, Fin...	ORPHA:3152
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Hypoplastic thumbnail, Bifid distal phalanx of th...	ORPHA:370010
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cataract, Small hand, Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Sh...	ORPHA:85172
Bresek Syndrome	Optic nerve hypoplasia, Alopecia, Postaxial hand polydactyly, Iris coloboma	ORPHA:85284
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
Walker-Warburg Syndrome	Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Hydrocephalus, Opti...	ORPHA:899
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Postural tremor, Optic atrophy, Upper limb amyotrophy, Abnormal circulating cholesterol...	OMIM:270800
Oculodentodigital Dysplasia, Autosomal Recessive	Brachycephaly, Microcornea, Persistent pupillary membrane, Sparse hair, 4-5 finger syndactyly, Sh...	OMIM:257850
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Myopia 17, Autosomal Dominant	Retinal hole, Presenile cataracts	OMIM:608367
Congenital Hydrocephalus	Optic atrophy, Iris coloboma	ORPHA:2185
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes...	OMIM:615145
Achondrogenesis Type 2	Retinal detachment, Cataract, Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal o...	ORPHA:93296
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Retinal dystrophy	OMIM:610156
Nathalie Syndrome	Cataract	OMIM:255990
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Cataract	OMIM:614876
Sandestig-Stefanova Syndrome	Epicanthus, Laterally extended eyebrow, Small for gestational age, Rocker bottom foot, Highly arc...	OMIM:618804
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Cataract, Abnormal hair morphology, Preaxial polydactyly	ORPHA:64754
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, Palmoplantar keratoderma, Corneal opacity	ORPHA:578
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Cousin Syndrome	Prominent protruding coccyx, Low anterior hairline, Microcornea, Hypoplastic iliac wing, Clinodac...	OMIM:260660
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Dolichocephaly, Abnormal eyelash morp...	ORPHA:2399
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Martsolf Syndrome 2	Cataract, Overlapping toe, Camptodactyly of finger, Developmental cataract, Camptodactyly	OMIM:619420
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Short Syndrome	Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the ir...	ORPHA:3163
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Tricuspid regurgi...	ORPHA:1101
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Frontal bossing, Cataract, Microcornea, Coloboma, Iris transillumination defect, Shallow orbits, ...	OMIM:617306
Trisomy 1Q	Frontal bossing, Anophthalmia, Arachnodactyly, Toe syndactyly, Camptodactyly of finger, Hypoplast...	ORPHA:261344
3Q29 Microduplication Syndrome	Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Aniridia, Iris coloboma, Camptodactyly of toe	ORPHA:251038
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Hypopigmented skin pat...	ORPHA:1825
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Blue irides, Short metatarsal, Advanced ossification of carpal bones, Cone-shap...	OMIM:614613
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypop...	ORPHA:79432
Developmental And Epileptic Encephalopathy 73	Irritability, Hip dysplasia, Cataract	OMIM:618379
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Corneal opacity, Optic atrophy, Developmental cataract, Polyda...	ORPHA:93400
Congenital Toxoplasmosis	Elevated hepatic transaminase, Abnormality of retinal pigmentation, Hepatomegaly, Failure to thri...	ORPHA:858
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom...	ORPHA:54
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Frontal bossing, Telecanthus, Alopecia, Brachycephaly, Fine hair, Upslanted palpeb...	ORPHA:228390
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Sialidosis Type 2	Tremor, Corneal opacity, Abnormal macular morphology	ORPHA:87876
Baralle-Macken Syndrome	Cataract, Tapered finger, Dystonia, Cafe-au-lait spot, Hirsutism	OMIM:619255
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Holoprosencephaly	Anophthalmia, Flat occiput, Abnormality of the spleen, Synophrys, Holoprosencephaly, Chorioretina...	ORPHA:2162
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma, Deep palmar crease	OMIM:600251
Usher Syndrome Type 3	Depression, Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Proboscis Lateralis	Anophthalmia, Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormali...	ORPHA:141099
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Distal Deletion 13Q	Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Optic atrophy, Abnormal metacarpal morp...	ORPHA:1590
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Abnormal fingernail morpholog...	ORPHA:1319
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Down-sloping shoulders, Cubitus valgus, Upslanted palpebral fissure, Astigmatism, Campt...	OMIM:619694
Blepharocheilodontic Syndrome 1	Lagophthalmos, Ectropion of lower eyelids, High anterior hairline, Cutaneous syndactyly, Neural t...	OMIM:119580
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Hip dysplasia	ORPHA:496790
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Optic atrophy, Microphtha...	ORPHA:1466
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Developmental cataract	OMIM:618815
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Cataract, Optic atrophy, Brachycephaly, Abnormality of skin pigmen...	OMIM:612379
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ...	OMIM:601813
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting	OMIM:609218
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract, Broad thumb	ORPHA:3173
Brittle Cornea Syndrome	Hallux valgus, Retinal detachment, Arachnodactyly, Corneal dystrophy, Corneal erosion, Abnormalit...	ORPHA:90354
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Hip dysplasia, Astigmatism, Chorioretinal coloboma, Peters anomaly, Iris coloboma,...	ORPHA:494344
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Metaphyseal widening, Metatarsal osteolysis, Camptodactyl...	OMIM:259600
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Intrauterine growth retardation, Talipes equinovarus, Rocker bottom foot	OMIM:616570
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Cataract, Broad hallux, Broad thumb	ORPHA:3433
Baraitser-Winter Syndrome 2	Telecanthus, Highly arched eyebrow, Trigonocephaly, Coloboma, Long palpebral fissure, Microphthal...	OMIM:614583
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Cataract, Radial deviation of the hand, Sandal gap, Short hum...	OMIM:607323
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Micromelia	OMIM:273680
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Brachyolmia Type 1, Toledo Type	Broad tibial metaphyses, Short femoral neck, Opacification of the corneal stroma	OMIM:271630
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Cataract, Corneal opacity, Confusion, Depression	ORPHA:309288
Microphthalmia, Lenz Type	Finger syndactyly, Cataract, Camptodactyly of finger, Optic disc coloboma, Microcornea, Abnormal ...	ORPHA:568
Pellagra-Like Syndrome	Cataract, Confusion	OMIM:260650
Congenital Varicella Syndrome	Cataract, Micromelia	ORPHA:291
Solitary Median Maxillary Central Incisor	Anophthalmia, Coloboma, Holoprosencephaly, Microphthalmia, Cyclopia	OMIM:147250
Rhizomelic Chondrodysplasia Punctata	Alopecia, Cataract, Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergr...	ORPHA:177
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Anophthalmia, Congenital hip dislocation, Brittle hair, Os...	OMIM:305600
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Metatarsus adductus, Short thumb, Abnormal finger morphology, Ra...	ORPHA:436003
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Corneal opacity, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia ...	ORPHA:1765
Heyn-Sproul-Jackson Syndrome	Short metacarpal, Sparse hair, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Stickler Syndrome Type 1	Retinal detachment, Cataract, Abnormal vitreous humor morphology, Abnormal epiphysis morphology, ...	ORPHA:90653
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Cutaneous finger syndactyly, Partial duplication of the proximal ...	ORPHA:363417
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Corneal opacity, Abnormal toe morphology, Abnormal finger morphology, Coloboma, Hypopig...	OMIM:163200
Cerebrooculofacioskeletal Syndrome 2	Cataract, Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Developmental c...	OMIM:610756
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh...	ORPHA:2714
Maternally-Inherited Diabetes And Deafness	Cataract, Abnormal chorioretinal morphology, Macular dystrophy, Abnormal circulating lipid concen...	ORPHA:225
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cutaneous syndactyly, Palmoplantar kera...	ORPHA:2890
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Clinodactyly, Ectrodactyly, Iris coloboma	OMIM:147950
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Hijazi-Reis Syndrome	Astigmatism, Iris coloboma	OMIM:301094
Intermediate Uveitis	Anterior uveitis, Cataract, Macular scar, Band keratopathy, Vitreous haze, Epiretinal membrane, V...	ORPHA:279914
Adams-Oliver Syndrome 2	Alopecia, Single transverse palmar crease, Hydrocephalus, Optic atrophy, Low anterior hairline, D...	OMIM:614219
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Alpha-Mannosidosis	Bowing of the long bones, Cataract, Corneal opacity, Hip dysplasia, Hypoplastic inferior ilia	ORPHA:61
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract, Small for gestational age	OMIM:278780
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Epicanthus, Cataract, Frontal bossing, Coxa valga, Abnormality of the elbow, ...	ORPHA:163649
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia...	OMIM:113000
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Frontal bossing, Sandal gap, Camptodactyly of finger, Do...	ORPHA:1520
Hydrolethalus	Anophthalmia, Micromelia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Microphthalmia	ORPHA:2189
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Obesity	ORPHA:363741
Baraitser-Winter Syndrome 1	Epicanthus, Highly arched eyebrow, Trigonocephaly, Duplication of phalanx of hallux, Low posterio...	OMIM:243310
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Frontal bossing, Bowing of the long bones, Cataract, Rhizomelia, Cloverleaf skull, Proximal place...	ORPHA:93267
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Cataract	ORPHA:1875
Meckel Syndrome	Anophthalmia, Sclerocornea, Asplenia, Microcornea, Encephalocele, Accessory spleen, Congenital he...	ORPHA:564
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Papilledema, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Hirsutism, ...	ORPHA:371428
Nance-Horan Syndrome	Microcornea, Retinal detachment, Short metacarpal, Cataract	ORPHA:627
Donnai-Barrow Syndrome	Retinal detachment, Widow's peak, Iris coloboma	ORPHA:2143
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Sclerocornea, Hydrocephalus, Holoprosencephaly, Microphthalmia, Iris coloboma	ORPHA:77298
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb	ORPHA:3434
Summitt Syndrome	Syndactyly, Oxycephaly, Obesity, Craniosynostosis	OMIM:272350
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Rhizomelia, Iliac c...	ORPHA:239
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Microphthalmia, Isolated 6	Microphthalmia, Retinal fold	OMIM:613517
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Reduced systolic function, Failure to thrive in infancy, Dilated cardiomy...	OMIM:618805
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho...	ORPHA:750
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Microphthalmia, Syndromic 5	Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Coloboma, Microphthalmia	OMIM:610125
Joubert Syndrome 14	Encephalocele, Epicanthus, Highly arched eyebrow, Postaxial polydactyly, Hydrocephalus, Meningoce...	OMIM:614424
Cranioectodermal Dysplasia	Finger syndactyly, Epicanthus, Brachydactyly, Rhizomelia, Abnormal fingernail morphology, Frontal...	ORPHA:1515
Frontorhiny	Encephalocele, Epicanthus, Brachydactyly, Cataract, Camptodactyly of finger, Widow's peak, Finger...	ORPHA:391474
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Sialidosis Type 1	Cataract, Corneal opacity, Tremor, Aminoaciduria, Cherry red spot of the macula, Retinopathy	ORPHA:812
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,...	ORPHA:957
Marinesco-Sjögren Syndrome	Cataract, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morpho...	ORPHA:559
Aniridia And Absent Patella	Aniridia, Cataract, Aplasia/Hypoplasia of the patella	OMIM:106220
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Craniosynostosis	OMIM:218670
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Abnormal hair morphology, Optic atrophy, Coloboma, Palmoplantar ...	ORPHA:324737
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Gm1-Gangliosidosis, Type Iii	Hypoplastic acetabulae, Flared iliac wing, Opacification of the corneal stroma, Dystonia	OMIM:230650
Ichthyosis, X-Linked	Palmar hyperlinearity, Palmoplantar keratoderma, Opacification of the corneal stroma	OMIM:308100
Lissencephaly 8	Occipital encephalocele, Cataract, Optic atrophy, Talipes equinovarus, Microphthalmia	OMIM:617255
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea...	ORPHA:1806
Summitt Syndrome	Finger syndactyly, Epicanthus, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, P...	ORPHA:3210
Multiple Sulfatase Deficiency	Broad hallux, Corneal opacity, Rapid neurologic deterioration, Broad thumb, Retinal degeneration	OMIM:272200
Pseudopseudohypoparathyroidism	Short metacarpal, Cataract, Short metatarsal, Cognitive impairment, Brachydactyly	OMIM:612463
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia	OMIM:144300
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Axial Spondylometaphyseal Dysplasia	Cataract, Iliac crest serration, Peripheral retinal degeneration, Retinal dystrophy, Rod-cone dys...	ORPHA:168549
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Arachnodactyly, Abnormal thumb morphology, O...	ORPHA:2719
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Brittle Cornea Syndrome 1	Keratoconus, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, Decreased corn...	OMIM:229200
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Filippi Syndrome	Single transverse palmar crease, 2-4 toe syndactyly, Optic atrophy, Cutaneous syndactyly, Finger ...	OMIM:272440
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Corneal opacity, Sclerocornea, Bilateral talipes ...	OMIM:609465
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Camptodactyly of finger, Microcornea, Long eyelashes, Microphthalmia, Intrauterine grow...	ORPHA:48431
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Hurler-Scheie Syndrome	Corneal opacity, Generalized hirsutism	ORPHA:93476
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Epicanthus, Hydrocephalus, Polydactyly, Microphthalmia, Downslanted palpebral fissures	OMIM:602501
Methionine Malabsorption Syndrome	Aminoaciduria, White hair, Blue irides, Positive ferric chloride test	OMIM:250900
Galactose Epimerase Deficiency	Aminoaciduria, Cataract	ORPHA:79238
Charlie M Syndrome	Finger syndactyly, Abnormal fingernail morphology, Split hand, Triphalangeal thumb, Abnormal meta...	ORPHA:1406
Unilateral Ocular Duplication	Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Microcornea, Laterally curved eyebrow, Contracture of...	OMIM:300166
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr...	OMIM:605282
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Abnormality of the hand, Flat capital femoral epiphysis, Gen...	OMIM:252605
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia, Hypermelanotic macule, Developmental cataract, Conjunctivitis, Intrau...	ORPHA:90322
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Fanconi Anemia, Complementation Group S	Epicanthus, Proximal placement of thumb, Low anterior hairline, Upslanted palpebral fissure, Long...	OMIM:617883
Frontofacionasal Dysplasia	Telecanthus, Cataract, Blepharophimosis, Brachycephaly, Ankyloblepharon, Microcornea, Eyelid colo...	OMIM:229400
3C Syndrome	Finger syndactyly, Hypoplastic fingernail, Optic atrophy, Hand polydactyly, Abnormal hip bone mor...	ORPHA:7
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu...	OMIM:151200
Moebius Syndrome	Syndactyly, Epicanthus, Brachydactyly, Clinodactyly, Split hand, Congenital fibrosis of extraocul...	OMIM:157900
Richieri-Costa/Guion-Almeida Syndrome	Palmoplantar cutis laxa, Abnormal digit morphology, Iris coloboma	OMIM:268850
Oculotrichoanal Syndrome	Anophthalmia, Abnormal hair pattern, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microp...	ORPHA:2717
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Broad hallux, Sandal gap, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, ...	OMIM:618727
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Sandal gap, Small hand, Short foot, Astigmatism, Decreas...	OMIM:618885
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Flat occiput, Preaxial hand polydactyly, ...	ORPHA:2211
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia, Multiple cafe-au-lait spots	OMIM:614082
Cataract 47	Microcornea, Cataract	OMIM:612018
Martsolf Syndrome 1	Osteopathia striata, Low anterior hairline, Brachycephaly, Finger joint hypermobility, Short palm...	OMIM:212720
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Epicanthus, Abnormality of the hand, Bilateral microphthalmos, Low anterior hairline,...	ORPHA:369891
Zellweger Syndrome	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic atrophy, Ep...	ORPHA:912
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Cataract, Alopecia totalis, Palmoplantar keratoderma	ORPHA:1366
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hydrocephalus, Hypopigmented ...	ORPHA:53271
Cln3 Disease	Cataract, Bull's eye maculopathy, Optic atrophy, Depression, Pigmentary retinopathy, Dementia, Me...	ORPHA:228346
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Woolly hai...	OMIM:234050
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ...	ORPHA:166024
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Frontal bossing, Epicanthus, Cataract, Broad hallux, Single transverse palmar crease, Retinal pig...	OMIM:614105
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Autoamputation of digits, Keratitis, Corneal scarring, Nail dystrophy, Recurre...	OMIM:256800
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Frontal bossing, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphysea...	OMIM:300863
Gm1 Gangliosidosis	Generalized dystonia, Corneal opacity, Camptodactyly of finger, Tremor, Abnormal retinal vascular...	ORPHA:354
Joubert Syndrome With Oculorenal Defect	Highly arched eyebrow, Hand polydactyly, Foot polydactyly, Chorioretinal coloboma, Iris coloboma	ORPHA:2318
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Hallermann-Streiff Syndrome	Metaphyseal widening, Brachycephaly, Chorioretinal coloboma, Sparse hair, Parietal bossing, Iris ...	OMIM:234100
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Rod-cone dystro...	OMIM:609033
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Corneal opacity, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Rock...	OMIM:301056
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Abnormality of the hand, Anterior cortical ca...	OMIM:221800
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Single transverse palmar crease, Brushfield spots, Cubitus valgus, Metatarsus adductus,...	OMIM:214110
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Epicanthus, Anophthalmia, Bilateral single transverse palmar creases, Finger...	ORPHA:264200
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Cataract, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse ...	OMIM:615704
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Optic atrophy, Generalized hypertrichosis, Cherry red spot of the macula	ORPHA:93399
Developmental And Epileptic Encephalopathy 93	Optic atrophy, Iris coloboma	OMIM:618012
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Sandal gap, Highly arched eyebrow, Nail dystrophy, Microphthalmia	OMIM:300887
Usher Syndrome Type 1	Depression, Cataract, Iris hypopigmentation	ORPHA:231169
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Weaver Syndrome	Deep-set nails, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal fingernail morph...	ORPHA:3447
Jacobsen Syndrome	Flat occiput, Microcornea, Eyelid coloboma, Holoprosencephaly, Chorioretinal coloboma, Clinodacty...	OMIM:147791
Monosomy 18P	Ptosis, Epicanthus, Alopecia, Brachycephaly, Low posterior hairline, Hypertension, Holoprosenceph...	ORPHA:1598
Spondylodysplastic Ehlers-Danlos Syndrome	Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Megalocornea, ...	ORPHA:536471
Nizon-Isidor Syndrome	Prominent fingertip pads, Long fingers, Iris coloboma, Sparse eyebrow	OMIM:618872
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma	ORPHA:2791
Craniosynostosis, Philadelphia Type	Long palpebral fissure, Finger syndactyly, Craniosynostosis	ORPHA:1527
Prune1-Related Neurological Syndrome	Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bilateral talipes eq...	ORPHA:544469
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Weill-Marchesani Syndrome	Short thumb, Brachydactyly, Cataract, Ectopia lentis	ORPHA:3449
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Short toe, Cataract, Brachydactyly	ORPHA:3085
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Abnormal met...	ORPHA:284160
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Trichothiodystrophy 3, Photosensitive	Brittle hair, Ectropion, Cataract, Developmental cataract, Trigonocephaly, Microphthalmia, Tiger ...	OMIM:616395
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Frontal bossing, Anophthalmia, Hepatomegaly, Aplastic clavicle...	ORPHA:2538
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Waardenburg Syndrome Type 1	Telecanthus, White eyelashes, White eyebrow, Hypopigmentation of hair, Spina bifida, Abnormal hai...	ORPHA:894
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract, Genu valgum	ORPHA:1381
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Premature graying of hair, Microcornea, Short palm, Sparse hair, Abse...	OMIM:268400
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Rodrigues Blindness	Microcornea, Sparse hair, Sclerocornea, Fine hair	OMIM:268320
Frontonasal Dysplasia 2	Encephalocele, Telecanthus, Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow,...	OMIM:613451
Coach Syndrome 2	Coloboma, Elevated circulating creatinine concentration, Chorioretinal coloboma	OMIM:619111
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Low anterior hairline, Coarse hair, Astigmatism, Abnormal metacarpal morphology, Ge...	ORPHA:2095
Myopathy, Tubular Aggregate, 1	Weakness of the intrinsic hand muscles, Abnormal pupil morphology, Elevated circulating creatine ...	OMIM:160565
20P13 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Failure to thrive in infancy, Highly arched eyebrow, Synophrys, M...	ORPHA:313781
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
White Forelock With Malformations	Finger syndactyly, Epicanthus, White forelock, Dolichocephaly, Clinodactyly of the 5th finger, Sp...	ORPHA:2475
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Optic nerve hyp...	ORPHA:370959
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Recessive X-Linked Ichthyosis	Attention deficit hyperactivity disorder, Opacification of the corneal stroma	ORPHA:461
Oculodentodigital Dysplasia	Brittle hair, Microcornea, Clinodactyly of the 5th finger, Sparse hair, Abnormality of the nail, ...	ORPHA:2710
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cataract, Short foot, Hand polydactyly, Broad thumb, Talipe...	ORPHA:250989
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Cataract, Small for gestational age, Rocker bottom foot, Coxa valga, Elbow fle...	OMIM:214150
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta...	OMIM:611561
Microphthalmia, Syndromic 8	Microcornea, Split foot, Blepharophimosis, Microphthalmia, Short palpebral fissure	OMIM:601349
Triploidy	Finger syndactyly, Cataract, Iris coloboma	ORPHA:3376
Adnp Syndrome	Sparse scalp hair, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morpho...	ORPHA:404448
Ring Chromosome 10 Syndrome	Frontal bossing, Sandal gap, Cachexia, Tapered finger, Microphthalmia, Downslanted palpebral fiss...	ORPHA:1438
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Iris coloboma	OMIM:155145
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Palm...	OMIM:612843
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Cataract, Sparse axillary hair, Sparse pubic hair, 3-4 finger cutaneous syndac...	OMIM:181270
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Attention deficit hyperactivity disorder	ORPHA:281090
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Corneal opacity, Abnormal morp...	ORPHA:570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Retinal detachment, Cataract, Elevated circulating creatine kinase concen...	OMIM:615181
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Cataract, Optic atrophy, Retinal dysplasia	ORPHA:272
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Ritscher-Schinzel Syndrome 1	Syndactyly, Hydrocephalus, Brachycephaly, Low posterior hairline, Prominent occiput, Coloboma, Pu...	OMIM:220210
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Calvarial skull defect, Spinal dysraphism	ORPHA:1114
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Syndactyly, Tapered finger, Obesity, Plagiocephaly, Clinodactyly of the 5th finger	OMIM:618725
Tyrosinemia Type 2	Tremor, Palmoplantar keratoderma, Corneal opacity, Abnormality of the nail	ORPHA:28378
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Brachydactyly, Highly arched eyebrow, Craniosynostosis, Hip dislocation, Deep palmar ...	OMIM:619451
Fish-Eye Disease	Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Adult Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse scalp hair, Breast hypoplasia,...	ORPHA:978
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Elevated circulating creatine kinase concentration, Tremor, Depression, Pigmentary reti...	ORPHA:79095
Congenital Disorder Of Glycosylation, Type Ii	Cataract, Iris coloboma	OMIM:607906
Squalene Synthase Deficiency	Optic nerve hypoplasia, Increased circulating farnesol concentration, Elbow flexion contracture, ...	OMIM:618156
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Eiken Syndrome	Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Delayed epip...	ORPHA:79106
Joubert Syndrome 37	Frontal bossing, Hepatomegaly, Postaxial polydactyly, Obesity, Sparse hair, Microphthalmia, Ptosis	OMIM:619185
Xeroderma Pigmentosum Variant	Keratitis, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the ...	ORPHA:90342
Seckel Syndrome 2	Few cafe-au-lait spots, Small for gestational age, Heart murmur, Clinodactyly of the 5th finger, ...	OMIM:606744
Vitamin K Antagonist Embryofetopathy	Cataract, Optic atrophy, Epiphyseal stippling, Short distal phalanx of finger, Brachydactyly	ORPHA:1914
Mosaic Trisomy 1	Single transverse palmar crease, Hypoplastic thumbnail, Congenital bilateral ptosis, Finger clino...	ORPHA:1692
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Anophthalmia, Cataract, Hypermelanotic macule, Optic...	ORPHA:90321
Cronkhite-Canada Syndrome	Alopecia, Cataract, Abnormal fingernail morphology, Generalized hyperpigmentation, Tapered finger...	ORPHA:2930
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Thick eyebrow	OMIM:602562
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Alopecia, Poliosis, Vitreous floaters, Vitritis, Retin...	ORPHA:79098
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Cataract, Distal upper limb muscle wea...	OMIM:301075
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Joubert Syndrome With Ocular Defect	Highly arched eyebrow, Hand polydactyly, Retinal coloboma, Foot polydactyly, Iris coloboma	ORPHA:220493
X-Linked Dominant Chondrodysplasia Punctata	Frontal bossing, Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alop...	ORPHA:35173
Linear Nevus Sebaceus Syndrome	Alopecia, Irregular hyperpigmentation, Iris coloboma, Melanocytic nevus	ORPHA:2612
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Abnormal retinal morphology, Rocker bottom foot, Camptodactyly of f...	OMIM:610758
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypo...	OMIM:603671
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Hip dislocation, Genu valgum, Developmental cataract, Thick eyebrow	ORPHA:436174
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op...	OMIM:120330
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Frontal bossing, Epicanthus, Single transverse palmar crease, Supernumerary nipple, Sparse eyebro...	OMIM:620098
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Hepatomegaly, Cataract, Neonatal death, Microphthalmia	OMIM:613730
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract, Elevated circulating creatine kinase concentration	OMIM:615352
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Frontal bossing, Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus,...	ORPHA:163966
Stiff Skin Syndrome	Cataract, Elbow flexion contracture, Camptodactyly	OMIM:184900
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Sclerocornea, Abnormal eyelid morphology, Abnormality of skin pigmentation, Retinal...	ORPHA:2556
Otospondylomegaepiphyseal Dysplasia	Retinal detachment, Short metacarpal, Cataract, Epiphyseal dysplasia, Sandal gap, Abnormal pelvis...	ORPHA:1427
Matthew-Wood Syndrome	Anophthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Microphthalmia, Ann...	ORPHA:2470
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Syndactyly, Palmoplantar keratoderma	OMIM:613576
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Developmental cataract, Abnormal left ventricular function, Cardiomyopathy, Microp...	OMIM:613155
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Preaxial polydactyly, Microcornea, Peters anomaly...	OMIM:243605
Kniest Dysplasia	Retinal detachment, Hip contracture, Cataract, Rhizomelia, Dumbbell-shaped long bone, Delayed epi...	OMIM:156550
Joubert Syndrome	Hand polydactyly, Foot polydactyly, Iris coloboma, Highly arched eyebrow	ORPHA:475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Elevated circulating creat...	OMIM:614643
Trisomy 18	Microcornea, Holoprosencephaly, Abnormal toenail morphology, Iris coloboma, Bilateral single tran...	ORPHA:3380
Infantile Refsum Disease	Cataract, Optic atrophy, Elevated circulating phytanic acid concentration, Abnormal epiphysis mor...	ORPHA:772
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Refsum Disease	Abnormality of retinal pigmentation, Short metacarpal, Cataract, Heart block, Splenomegaly, Cardi...	ORPHA:773
Fraser Syndrome 1	Encephalocele, Absent eyebrow, Aplasia/Hypoplasia of the thumb, Anophthalmia, Corneal opacity, Ab...	OMIM:219000
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Bilateral single transverse palmar ...	ORPHA:44
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Short lower limbs, Leukocoria, Bowing of the legs	OMIM:219250
Refsum Disease, Classic	Short fourth metatarsal, Cataract, Elevated circulating phytanic acid concentration, Rod-cone dys...	OMIM:266500
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ...	OMIM:611134
Warburg Micro Syndrome 3	Cataract, Low anterior hairline, Optic atrophy, Brachycephaly, Developmental cataract, Microcorne...	OMIM:614222
Rubinstein-Taybi Syndrome 2	Syndactyly, Epicanthus, Broad hallux, Highly arched eyebrow, Hirsutism, Short first metatarsal, L...	OMIM:613684
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Optic atrophy, Abnormal choro...	ORPHA:3205
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Epicanthus, Overlapping toe, Single transverse palmar crease, Small for gestationa...	OMIM:619148
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	ORPHA:101082
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Hirsutism	OMIM:619318
Wagro Syndrome	Cataract, Corneal opacity, Low frustration tolerance, Aniridia, Emotional lability	OMIM:612469
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Microcornea, Clinodactyly of the 5th finger, G...	OMIM:201000
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Elevated circulating creatine kinase concentration, Micromelia, Optic disc colo...	OMIM:600092
Hurler Syndrome	Corneal opacity, Hypoplasia of the femoral head, Progressive neurologic deterioration, Coxa valga...	OMIM:607014
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Corneal opacity, Thick hair, Athetosis, Abnormal cornea morphology, D...	ORPHA:357058
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad hallux, Optic nerve hypoplasia, Abnormality of the hand, Overlapping toe, Preaxial hand pol...	ORPHA:508498
Galactose Mutarotase Deficiency	Cataract, Hypergalactosemia	ORPHA:570422
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dyst...	ORPHA:2526
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Microcornea, Cli...	OMIM:619539
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Gracile Bone Dysplasia	Asplenia, Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Hypoplas...	OMIM:602361
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Aplasia/Hypoplasia involving the pel...	ORPHA:3301
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Mental deterioration, Macular degeneration, Cataract	OMIM:619780
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Optic atrophy, Rod-cone dystrophy, Subcapsular cataract, Intention tremor	OMIM:612674
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Cognitive impairment, Ectopia lentis	ORPHA:1885
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cataract, Optic atrophy, Talipes equinovarus	OMIM:617481
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract, Abnormal distal phalanx morphology of finger, Abnormality of the hand, Ulnar deviation ...	ORPHA:1387
Aniridia 3	Aniridia, Cataract	OMIM:617142
Metatropic Dysplasia	Cataract, Camptodactyly of finger, Micromelia, Halberd-shaped pelvis, Clinodactyly of the 5th fin...	ORPHA:2635
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos, Ab...	OMIM:248450
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Sparse eyelashes, Abnormal eyelid morphology, Small hand, Low anterior hairlin...	ORPHA:1787
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid	ORPHA:209956
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Muscle-Eye-Brain Disease	Cataract, Optic atrophy, Elevated circulating creatine kinase concentration, Cognitive impairment	ORPHA:588
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract, Hypoplastic scapulae, Generalized dystonia, Femoral retroversion, Micromelia, Mental de...	ORPHA:79107
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Geographic atrophy, Synophrys, Ir...	OMIM:619260
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Fanconi Anemia, Complementation Group J	Multiple cafe-au-lait spots, Microphthalmia, Short thumb	OMIM:609054
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Nail dysplasia, Camptodac...	OMIM:603543
Mucopolysaccharidosis Type 4	Bowing of the long bones, Corneal opacity, Coxa valga, Genu valgum, Abnormal epiphysis morphology...	ORPHA:582
Maternal Uniparental Disomy Of Chromosome 1	Cataract, Single transverse palmar crease, Abnormal limb bone morphology, Progressive psychomotor...	ORPHA:251009
Chondrodysplasia Punctata 2, X-Linked Dominant	Frontal bossing, Cataract, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, E...	OMIM:302960
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con...	OMIM:618914
Ruijs-Aalfs Syndrome	Cataract, Single transverse palmar crease, Down-sloping shoulders, Posterior subcapsular cataract...	OMIM:616200
Aniridia-Absent Patella Syndrome	Aniridia, Cataract, Aplasia/Hypoplasia of the patella	ORPHA:1069
Cystinosis	Corneal opacity, Hypokalemia, Aminoaciduria, Hypophosphatemia, Retinopathy	ORPHA:213
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Cataract, Congenital hip dislocation, Toe syndactyly, Supernumerary nipple, Fi...	ORPHA:217346
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Frontal bossing, Epicanthus, Cataract, Overlapping toe, Narrow palpebral fissure, Astigmatism, Re...	OMIM:618571
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly, Obesity, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Hip dislocation, Developmental cataract, Talipes equinovarus, Adducted thumb	OMIM:616603
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation	ORPHA:67048
17Q12 Microduplication Syndrome	Microphthalmia, Toe syndactyly, Finger syndactyly, Synophrys	ORPHA:261272
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bone...	OMIM:253010
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov...	ORPHA:163934
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Single transverse palmar crea...	OMIM:607932
Lissencephaly 5	Cataract, Optic atrophy	OMIM:615191
Joubert Syndrome With Renal Defect	Hand polydactyly, Iris coloboma, Highly arched eyebrow	ORPHA:220497
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micromelia, Bowin...	OMIM:255800
Cutis Laxa, Autosomal Recessive, Type Iiia	Cataract, Congenital hip dislocation, Low plasma citrulline, Hip dislocation, Hyperammonemia, Ath...	OMIM:219150
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Tremor, Hypocystinemia	OMIM:617744
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Hip dis...	ORPHA:3412
Combined Oxidative Phosphorylation Deficiency 47	Toe syndactyly, Cataract, Cone-shaped epiphyses of the distal phalanges of the hand, Short palm	OMIM:618958
Hypoparathyroidism, Familial Isolated, 1	Cataract, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Baraitser-Winter Cerebrofrontofacial Syndrome	Duplication of thumb phalanx, Highly arched eyebrow, Optic disc coloboma, Low posterior hairline,...	ORPHA:2995
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi...	ORPHA:280921
Chondrodysplasia Punctata 1, X-Linked Recessive	Epiphyseal stippling, Cataract, Short distal phalanx of finger	OMIM:302950
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment epithelial mo...	OMIM:617102
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Monosomy 5P	Finger syndactyly, Epicanthus, Small hand, Intrauterine growth retardation, Downslanted palpebral...	ORPHA:281
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Cataract, Hypocalcemia, Anonychia, Generalized hirsutism, Short distal phalanx of ...	ORPHA:1563
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Frontal bossing, Toe syndactyly, Telangiectasia of the skin, Hypermelanotic ma...	ORPHA:60040
Revesz Syndrome	Progressive neurologic deterioration, Leukocoria, Nail pits, Fine, reticulate skin pigmentation, ...	OMIM:268130
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Subaortic Stenosis-Short Stature Syndrome	Epicanthus, Biliary tract abnormality, Obesity, Microphthalmia, Arrhythmia, Synostosis of carpal ...	ORPHA:3191
3P25.3 Microdeletion Syndrome	Epicanthus, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Congenita...	ORPHA:435638
Stevenson-Carey Syndrome	Brachycephaly, Coloboma, Hip dysplasia, Camptodactyly, Microphthalmia, Joint contracture of the h...	OMIM:611961
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Postaxial polydactyly, Bilateral ptosis, Low anterior hairline, 2-3 toe sy...	ORPHA:404440
Dystonia-Deafness Syndrome 1	Generalized dystonia, Cataract, Oculogyric crisis, Femoral retroversion, Hypoplastic scapulae, Le...	OMIM:607371
Teebi-Shaltout Syndrome	Syndactyly, Telecanthus, Ulnar deviation of the hand, Slow-growing hair, Single transverse palmar...	OMIM:272950
White-Sutton Syndrome	Optic nerve hypoplasia, Astigmatism, Sparse hair, Iris coloboma, Broad thumb, Brachydactyly	OMIM:616364
Hurler-Scheie Syndrome	Corneal opacity, Camptodactyly of finger, Thenar muscle atrophy, Contracture of the distal interp...	OMIM:607015
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Brachycephaly, Upper eyelid coloboma, Microphthalmia	OMIM:613456
Neurooculocardiogenitourinary Syndrome	Epicanthus, Tricuspid regurgitation, Coloboma, Peters anomaly, Microphthalmia, Abnormality of the...	OMIM:618652
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Supernumerary nipple, Tapered finger, Iris coloboma, Broad thumb, Bilate...	ORPHA:1236
Cataract 48	Cataract	OMIM:618415
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Chromosome 1Q41-Q42 Deletion Syndrome	Frontal bossing, Sandal gap, Supernumerary nipple, Dolichocephaly, Sparse eyebrow, 3-4 finger cut...	OMIM:612530
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Polydactyly, Posterior polar cataract, Rod-cone dystrophy	OMIM:616562
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Sclerocornea, Pigmentary retinopathy, Camptodactyly, Abse...	OMIM:614230
Aarskog-Scott Syndrome	Finger syndactyly, Epicanthus, Single transverse palmar crease, Camptodactyly of finger, Megaloco...	ORPHA:915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration...	OMIM:236670
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo...	OMIM:190351
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Sandal gap, Abnormal retinal vascular morphology, ...	ORPHA:2715
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Short tibia, Humeroradial synostosi...	OMIM:251230
Cardiomyopathy, Dilated, 1Ii	Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Kury-Isidor Syndrome	Finger syndactyly, Brachydactyly, Alopecia, Frontal bossing, Rocker bottom foot, Proximal placeme...	OMIM:619762
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Short metacarpal, Long eyebrows, Widow's peak, Optic atrophy, Brachycephaly, Long e...	OMIM:201180
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Premature graying of ...	OMIM:113620
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Epicanthus, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia...	OMIM:614091
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Brachydactyly, Sparse eyelashes, Camptodactyly of finger, Cataract, Sparse eyebrow, W...	ORPHA:306542
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Arachnodactyly, White hair, Ocular albinism, Abnormal hip bone morphology, Generalized ...	ORPHA:2720
Joubert Syndrome 9	Cataract, Retinal dystrophy, Astigmatism	OMIM:612285
Flynn-Aird Syndrome	Rod-cone dystrophy, Alopecia, Cataract, Dementia	ORPHA:2047
Silver-Russell Syndrome 3	Syndactyly, Small hand, Antecubital pterygium, Melanocytic nevus, Clinodactyly of the 5th finger	OMIM:616489
Ring Chromosome 21 Syndrome	Syndactyly, Small hand, Narrow palm, Multiple cafe-au-lait spots, Clinodactyly	ORPHA:1445
Mucopolysaccharidosis Type 1	Corneal opacity, Split hand, Optic atrophy, Low anterior hairline, Abnormal epiphysis morphology,...	ORPHA:579
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Nail dysplasia, Hyp...	OMIM:175500
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Hypoplasia of the iris, Abnormal shoulder morphol...	ORPHA:1422
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Rocker bottom foot, Pigmentary retinopathy, Hip dysplasia, Short 2nd toe, Frontal upsw...	OMIM:612582
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Optic nerve hypoplasia, Palmoplantar hype...	OMIM:615280
Hurler Syndrome	Corneal opacity, Camptodactyly of finger, Abnormality of the elbow, Depression, Abnormality of sk...	ORPHA:93473
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Hypopigmentation of hair, Cataract, Rhizomelia, Sclerocornea, Proximal placeme...	ORPHA:818
Donnai-Barrow Syndrome	Retinal detachment, Cataract, Hypoplasia of the iris, Short sternum, Iris coloboma	OMIM:222448
Spondylo-Ocular Syndrome	Retinal detachment, Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low po...	ORPHA:85194
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Cataract, Tapered toe, Elevated circulating creatine kinase concentration, Tapered fing...	OMIM:608836
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,...	ORPHA:2437
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Warburg Micro Syndrome 2	Cataract, Overlapping toe, Optic atrophy, Low anterior hairline, Developmental cataract, Microcor...	OMIM:614225
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Cataract, Toe syndactyly, Micromelia, Elbow dislocatio...	ORPHA:3258
Kniest Dysplasia	Retinal detachment, Enlarged epiphyses, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous ...	ORPHA:485
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Epicanthus, Overlapping fingers, Overlapping toe, Single transverse palmar cre...	ORPHA:464738
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Freckling, Cataract, Small for gestational age, Fine hair, Telangiec...	OMIM:601675
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Retinal colobo...	OMIM:184705
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Corneal opacity, Hypermyelinated retinal nerve fibers, Palmoplantar hyperkeratosis...	OMIM:601812
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Hyperpigmented nevi and streak	OMIM:149000
Peroxisome Biogenesis Disorder 7A (Zellweger)	Cataract, Elevated circulating hexacosanoic acid concentration, Epiphyseal stippling, Elevated ci...	OMIM:614872
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Monosomy 13Q14	Ptosis, Epicanthus, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Cataract, ...	ORPHA:1587
Familial Dysautonomia	Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heteroc...	ORPHA:1764
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair	ORPHA:1839
Chime Syndrome	Corneal opacity, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocat...	ORPHA:3474
Warburg Micro Syndrome 4	Optic atrophy, Low anterior hairline, Brachycephaly, Developmental cataract, Microcornea, Microph...	OMIM:615663
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Ankyloblepharon, Hypoplastic iliac wing, Pterygium, Short phalanx of f...	OMIM:263650
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop...	ORPHA:79477
Jaberi-Elahi Syndrome	Brittle hair, Cataract, Sparse eyelashes, Sparse eyebrow, Tremor, Optic atrophy, Hand clenching, ...	OMIM:617988
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Pfeiffer Syndrome	Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, C...	OMIM:101600
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Brachydactyly, Sparse scalp hair, Proximal placement of thumb, Sparse eyebrow, Spotty...	OMIM:615789
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Decreased circulating plasmalogen concentration, Cataract, Rhizomelia, Optic nerve...	OMIM:222765
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Cataract, Short toe, Short metatarsal, Hyperphosphatemia, Short finger, Cogniti...	OMIM:103580
Mend Syndrome	Telecanthus, Overlapping fingers, Broad hallux, Overlapping toe, Cataract, Long fingers, Hydrocep...	ORPHA:401973
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Elevated transferrin saturation, Cataract, Hyperpig...	OMIM:606069
Pai Syndrome	Iris coloboma	ORPHA:1993
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Spherophakia, Anterior syne...	OMIM:601552
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha...	OMIM:177170
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz...	ORPHA:636
Osteopetrosis, Autosomal Recessive 8	Frontal bossing, Hepatomegaly, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Failure to...	OMIM:615085
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Nail-Patella Syndrome	Ridged nail, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac ho...	OMIM:161200
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Highly arched eyebrow, Ulnar bowing, Short 1st metacarpal, Shortening of ...	OMIM:619135
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Flexion contracture of finger, Decreased number of sweat glands, Swelli...	ORPHA:69087
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy	OMIM:604278
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Retinal detachment, Cataract, Coxa valga, Optic atrophy, Irritabil...	OMIM:619833
Farber Disease	Corneal opacity, Abnormality of the hand, Short toe, Abnormality of the elbow, Macular degenerati...	ORPHA:333
Proximal Myotonic Myopathy	Cataract	ORPHA:606
C3 Glomerulopathy	Yellow/white lesions of the retina, Central serous chorioretinopathy, Elevated circulating creati...	ORPHA:329918
Adams-Oliver Syndrome 6	Syndactyly, Tricuspid regurgitation, Portal hypertension, Hypoplastic toenails, Splenomegaly, Foo...	OMIM:616589
X-Linked Intellectual Disability, Najm Type	Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Fanconi Anemia	Abnormal eyelid morphology, Abnormal femur morphology, Abnormality of skin pigmentation, Abnormal...	ORPHA:84
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Tremor	OMIM:612736
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration, Cataract, Tortuosity of conjunctival vessels, Intention tremor	ORPHA:284289
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Finger syndactyly, Epicanthus, Frontal bossing, Arachnodactyly, Camptodactyly of finger, Triphala...	ORPHA:2994
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Patent ductus arteriosus, Camptodactyly of finger, Symphalangism affecting the ph...	ORPHA:2547
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Progressive neurologic deterioration, Avascular necrosis of the capital...	ORPHA:247691
Autoimmune Hypoparathyroidism	Cataract, Confusion, Depression, Irritability, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, H...	ORPHA:36913
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Preaxial polydactyly, Radioulnar synostosis, Clinodactyly	OMIM:248340
Sanjad-Sakati Syndrome	Corneal opacity, Small hand, Short foot, Astigmatism, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Truncal titubation, Rod-cone dystrophy, Pigmen...	ORPHA:88628
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, Onychogryposis of toenails, 3-4 finger syndactyly, 2-3 toe syndactyly	OMIM:600906
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Autoimmune Polyendocrinopathy Type 1	Alopecia, Cataract, Abnormal fingernail morphology, Hypopigmented skin patches, Opacification of ...	ORPHA:3453
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Epicanthus, Finger syndactyly, Abnormal fingernai...	ORPHA:1908
Kapur-Toriello Syndrome	Patent ductus arteriosus, Retinal coloboma, Microphthalmia, Failure to thrive, Iris coloboma	ORPHA:2328
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Cataract, Hypoplastic toenails, Optic atrophy, Low anterior hairline, Short 5th finger, Triphalan...	OMIM:220500
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Oculodentodigital Dysplasia	Epicanthus, Dry hair, Slow-growing hair, Cataract, Cubitus valgus, 4-5 finger syndactyly, Hip dis...	OMIM:164200
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Narrow palpebral fissu...	OMIM:236500
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Marshall Syndrome	Retinal detachment, Cataract, Radial bowing, Lens luxation, Hypoplastic ilia, Coxa valga, Ulnar b...	OMIM:154780
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Cataract, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Cognitive impairme...	OMIM:612462
Acrootoocular Syndrome	Epicanthus, Short metacarpal, Small hypothenar eminence, Abnormal finger flexion crease, Decrease...	ORPHA:2980
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Tapered finger, Hypoplasia of the iris, Astigmatism, Metatarsus valgus, Hypercholes...	ORPHA:2479
Silver-Russell Syndrome 1	Syndactyly, Frontal bossing, Small for gestational age, Short distal phalanx of the 5th finger, H...	OMIM:180860
Incontinentia Pigmenti	Ridged nail, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic, patchy alopeci...	OMIM:308300
Acromesomelic Dysplasia 4	Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutism, Genu varum, Short me...	OMIM:619636
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Lymphedema-Hypoparathyroidism Syndrome	Brachydactyly, Cataract, Increased carrying angle, Hypertrichosis	OMIM:247410
Multiple Benign Circumferential Skin Creases On Limbs	Epicanthus, Congestive heart failure, Upper limb asymmetry, Microcornea, Umbilical hernia, Microp...	ORPHA:2505
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retina...	OMIM:620157
Hajdu-Cheney Syndrome	Thick eyebrow, Short nail, Synophrys, Foot acroosteolysis, Osteolytic defects of the phalanges of...	OMIM:102500
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Dubowitz Syndrome	Syndactyly, Sparse scalp hair, Single transverse palmar crease, Hypoplasia of the iris, Clinodact...	OMIM:223370
Peroxisome Biogenesis Disorder 9B	Rod-cone dystrophy, Cataract, Elevated circulating phytanic acid concentration	OMIM:614879
Mosaic Trisomy 9	Corneal opacity, Rocker bottom foot, Spina bifida, Micromelia, Elbow dislocation, Camptodactyly o...	ORPHA:99776
Galloway-Mowat Syndrome 1	Epicanthus, Cataract, Flat occiput, Midface retrusion, Small for gestational age, Optic atrophy, ...	OMIM:251300
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Sclerocornea, 2-3 toe cutaneous syndactyly, Femoral bowing, Camptodacty...	OMIM:600920
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Mycophenolate Mofetil Embryopathy	Hypoplastic toenails, Foot polydactyly, Chorioretinal coloboma, Short palm, Iris coloboma	ORPHA:268249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Hydrocephalus, Coloboma, Microphthalmia, Retinal degeneration	OMIM:615249
Mucopolysaccharidosis Type 7	Corneal opacity, Metatarsus adductus, Epiphyseal stippling, Abnormal hip bone morphology, Diaphys...	ORPHA:584
Atelis Syndrome 2	Frontal bossing, Epicanthus, Remnants of the hyaloid vascular system, Single transverse palmar cr...	OMIM:620185
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Finger syndactyly, Epicanthus, Toe clinodactyly, Sandal gap, Craniosynostos...	ORPHA:254346
Joubert Syndrome With Hepatic Defect	Highly arched eyebrow, Postaxial hand polydactyly, Optic disc coloboma, Chorioretinal coloboma, I...	ORPHA:1454
Congenital Fibrinogen Deficiency	Tachycardia, Abnormality of the subungual region, Splenic rupture, Developmental cataract, Clubbi...	ORPHA:335
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Congenital bilateral hip dislocation, Choroidal neovascularization, Syndactyly	ORPHA:404451
Mosaic Trisomy 8	Corneal opacity, Camptodactyly of finger, Patellar aplasia, Hypopigmented skin patches, Narrow pe...	ORPHA:96061
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Blepharophimosis, Absent radius, Ocular ...	ORPHA:1352
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Brachycephaly, Sparse hair, Clinoda...	ORPHA:3103
Trisomy 9P	Brachydactyly, Bilateral single transverse palmar creases, Hypoplastic toenails, Abnormal pupil m...	ORPHA:236
Bardet-Biedl Syndrome 1	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Catara...	OMIM:209900
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Blepharocheilodontic Syndrome 2	Lagophthalmos, Ectropion of lower eyelids, Cutaneous syndactyly, Euryblepharon, Nail dysplasia, D...	OMIM:617681
Neurotrophic Keratopathy	Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion...	ORPHA:137596
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Cataract, Toe syndactyly, Short toe, Hip dislocation, Mi...	ORPHA:2308
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla...	OMIM:611584
Basal Cell Nevus Syndrome 1	Cataract, Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Polydactyly,...	OMIM:109400
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Wolfram Syndrome 1	Cataract, Tremor, Optic atrophy, Limited mobility of proximal interphalangeal joint, Pigmentary r...	OMIM:222300
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Finger syndactyly, Abnormal eyelid morphology, Ectropion of lower eyelids...	ORPHA:1997
Hajdu-Cheney Syndrome	Coarse metaphyseal trabecularization, Cataract, Brachydactyly, Bowing of the long bones, Abnormal...	ORPHA:955
Microphthalmia, Syndromic 3	Optic nerve aplasia, Frontal bossing, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocorne...	OMIM:206900
Fetal Alcohol Syndrome	Ptosis, Epicanthus, Telecanthus, Biparietal narrowing, Microphthalmia, Generalized hirsutism, Int...	ORPHA:1915
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Abnor...	ORPHA:3472
Ifap Syndrome 2	Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair	OMIM:619016
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Confusion	ORPHA:54057
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Midface...	ORPHA:93258
Meckel Syndrome 14	Occipital encephalocele, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Postaxial...	OMIM:619879
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Tbck-Related Intellectual Disability Syndrome	Broad toe, Corneal opacity, Synophrys, Hirsutism, 2-3 toe syndactyly, Broad finger, Cognitive imp...	ORPHA:488632
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Congestive heart failure, Brachycephaly, Decreased liver function, Hype...	ORPHA:70472
Polysyndactyly With Cardiac Malformation	Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Stillbirth, Small nail	OMIM:263630
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Sparse scalp hair, Highly arc...	ORPHA:1001
Obesity Due To Prohormone Convertase I Deficiency	Obesity, Cholestasis, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset ...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Obesity, Cholestasis, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset ...	ORPHA:71526
Momo Syndrome	Frontal bossing, Epicanthus, Hyperconvex nail, Large for gestational age, Bilateral microphthalmo...	ORPHA:2563
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormality of the humerus, Hypoplasia o...	ORPHA:3186
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Nail dystrophy, Nail dysplasia	OMIM:226700
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Thick hair, Progressive neurologic deterioration, Avascular necrosis o...	ORPHA:581
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Recurrent corneal erosions, Increased blood urea n...	OMIM:223900
White-Sutton Syndrome	Astigmatism, Optic atrophy, Iris coloboma, Vitiligo	ORPHA:468678
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, Highly arched eyebrow, Bilateral ptosis, Synophrys, ...	OMIM:614701
Neurocardiofaciodigital Syndrome	Optic disc pallor, Syndactyly, Cataract, Sclerocornea, Sparse eyebrow, Polydactyly, Sparse hair	OMIM:619869
Deafness, X-Linked 7	Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis	OMIM:301018
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Neonatal death, Pulmonic stenosis,...	OMIM:601186
Autosomal Dominant Optic Atrophy, Classic Form	Scapular winging, Cataract, Morning glory anomaly, Optic atrophy, Dementia, Cognitive impairment,...	ORPHA:98673
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Nance-Horan Syndrome	Developmental cataract, Microcornea, Posterior Y-sutural cataract, Broad finger, Short phalanx of...	OMIM:302350
Hamamy Syndrome	Prolonged QRS complex, Brachycephaly, Clinodactyly of the 5th finger, Sparse hair, Abnormal numbe...	OMIM:611174
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Cataract, Single transverse palmar crease, 2-3 toe syndactyly, Microcornea, Pulmonary...	OMIM:616449
Neuhauser Syndrome	Iridodonesis, Arachnodactyly, Low anterior hairline, Genu valgum, Hypoplasia of the iris, Hyperch...	OMIM:249310
Rubinstein-Taybi Syndrome	Finger syndactyly, Telecanthus, Epicanthus, Broad hallux phalanx, Abnormal distal phalanx morphol...	ORPHA:783
Myhre Syndrome	Hypoplastic iliac wing, Sparse hair, Short toe, 2-3 toe syndactyly, Obesity, Cone-shaped epiphysi...	OMIM:139210
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly, Optic atrophy, Megalopapilla,...	OMIM:615636
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Sclerocornea, Highly arched eyebrow, Short...	ORPHA:280
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Single transverse palmar crease, Sclerocornea, Pigmentary retinopathy, Peters anomaly, ...	OMIM:309801
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Frontal bossing, Small for gestational age, Short 5th finger, Polydactyly, Small plac...	ORPHA:397590
Ablepharon Macrostomia Syndrome	Absent eyebrow, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Abnormal hair pattern, ...	ORPHA:920
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Brachydactyly, Alopecia, Turricephaly, Abnormality of the elbow, Hip dislocati...	ORPHA:1005
Lowry-Maclean Syndrome	Corneal opacity, Single transverse palmar crease, Developmental glaucoma, Generalized hypertricho...	ORPHA:2409
Mucopolysaccharidosis, Type Vii	Corneal opacity, Metatarsus adductus, Hirsutism, Genu valgum, Coarse hair, Narrow greater sciatic...	OMIM:253220
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Coxa vara, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Short femoral neck, ...	OMIM:313400
Al-Raqad Syndrome	Sandal gap, Hypopigmentation of the skin, Brachydactyly	OMIM:616459
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Borjeson-Forssman-Lehmann Syndrome	Cataract, Tapered finger, Short toe, Abnormal hip bone morphology, Sparse hair, Camptodactyly of ...	ORPHA:127
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentat...	ORPHA:2969
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Fraser Syndrome	Encephalocele, Finger syndactyly, Anophthalmia, Toe syndactyly, Abnormal hair pattern, Calvarial ...	ORPHA:2052
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Astigmatism, Decreas...	OMIM:609053
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Galactokinase Deficiency	Psychomotor deterioration, Cataract, Increased level of galactitol in plasma, Nuclear cataract, H...	ORPHA:79237
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Papilledema, ...	ORPHA:91500
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Long fingers, Brachycephaly, Upslanted palpebral fissure, Microcornea, Hypoplastic ni...	OMIM:156610
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Blue ...	OMIM:614077
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Impaired myocardi...	ORPHA:158687
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Postaxial hand polydactyly, Obesity, Pigmentary...	ORPHA:110
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Genu valgum, Cognitive impairment, Opacification of the corneal stroma, Abn...	ORPHA:583
Joubert Syndrome 2	Encephalocele, Frontal bossing, Hydrocephalus, Optic disc coloboma, Postaxial hand polydactyly, P...	OMIM:608091
De Barsy Syndrome	Cataract, Corneal opacity, Congenital hip dislocation, Abnormal fundus fluorescein angiography, C...	ORPHA:2962
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Epicanthus, Telecanthus, Abnormal eyelash morphology, Optic atrophy, Low poste...	ORPHA:1252
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci...	OMIM:300539
Alpha-Mannosidosis, Infantile Form	Optic disc pallor, Short attention span, Cataract, Corneal opacity, Confusion, Highly arched eyeb...	ORPHA:309282
Hallermann-Streiff Syndrome	Frontal bossing, Telecanthus, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eye...	ORPHA:2108
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Menkes Disease	Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Sparse hair, Hypopigmentation of...	OMIM:309400
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Optic disc coloboma, Iris coloboma	ORPHA:52055
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def...	OMIM:619172
Obesity And Hypopigmentation	Red hair	OMIM:620195
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Widow's peak, Brachycephaly, Hand polydactyly, Downslanted palpebral fi...	OMIM:239710
Limb Body Wall Complex	Duplication of hand bones, Corneal opacity, Broad hallux, Aplasia/hypoplasia involving bones of t...	ORPHA:2369
Adult Syndrome	Sparse scalp hair, Toe syndactyly, Absent nipple, Sparse axillary hair, Split hand, Nail pits, Al...	OMIM:103285
Bohring-Opitz Syndrome	Low anterior hairline, Dislocated radial head, Syndactyly, Tapered finger, Mesomelic/rhizomelic l...	OMIM:605039
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Epicanthus, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Op...	OMIM:614800
Charge Syndrome	Epicanthus, Anophthalmia, Brachydactyly, Highly arched eyebrow, Aqueductal stenosis, Abnormal tib...	ORPHA:138
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasia of the radiu...	OMIM:602875
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, Retinal arteriolar...	OMIM:175780
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Frontal bossing, Supernumerary nipple, Optic atrophy, Apla...	ORPHA:3255
Trisomy 20P	Low anterior hairline, Brachycephaly, Coarse hair, Finger syndactyly, Highly arched eyebrow, Spin...	ORPHA:261318
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Cockayne Syndrome B	Dry hair, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of the iris, Abno...	OMIM:133540
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly, Downslanted palpebral fissures	OMIM:619981
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Short tibia, Squared iliac bone...	OMIM:616300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Failure to thrive, Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Sy...	ORPHA:364577
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Coxa valga, S...	OMIM:618150
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Lacrimal duct atresia, Hyperpigmented strea...	OMIM:300952
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Tibial bowing, Femoral bowing, Blotching pigmentation of the ski...	OMIM:601559
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Ptosis, Camptodactyly of finger, Low posterior hairline, Abnormal calvaria mor...	ORPHA:1323
Stickler Syndrome, Type I	Retinal detachment, Cataract, Arachnodactyly, Irregular femoral epiphysis, Vitreoretinopathy, Mem...	OMIM:108300
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Corneal opacity, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized ...	ORPHA:79396
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux, Highly arched eyebrow, Sp...	OMIM:600987
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Congenital Disorder Of Glycosylation, Type Ij	Cataract, Single transverse palmar crease, Tremor, Clinodactyly of the 5th finger, Hypoproteinemia	OMIM:608093
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Cataract, Single transverse palmar crease, Metatarsus adductus, Sho...	OMIM:123450
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Corneal opacity, Hypermelanotic macule, Abnormal femoral head mor...	ORPHA:1830
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr...	ORPHA:67036
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin, Single transverse palm...	OMIM:618541
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis...	OMIM:212780
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Abnormal hand morphology, Small hand, Premature graying of hair, Broad finger, Short ph...	OMIM:300845
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Decreased body weight	OMIM:614833
Lateral Meningocele Syndrome	Iris coloboma, Low posterior hairline	ORPHA:2789
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Gomez-Lopez-Hernandez Syndrome	Cognitive impairment, Alopecia, Opacification of the corneal stroma, Depression	OMIM:601853
Ohdo Syndrome, X-Linked	Epicanthus, Ulnar deviation of the hand, Overlapping toe, Sparse eyebrow, Short thumb, Long thumb...	OMIM:300895
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Aplasia/Hypoplasia of the fibula, Abn...	ORPHA:2256
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Cataract, Epiphyseal stippling, Coarse hair, Talipes equinovarus, Sparse hair	OMIM:118650
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Roberts-Sc Phocomelia Syndrome	Brachycephaly, Tetraphocomelia, Coloboma, Eyelid coloboma, Shallow orbits, Phocomelia, Sparse hai...	OMIM:268300
Larsen Syndrome	Short metacarpal, Corneal opacity, Short nail, Spatulate thumbs, Elbow dislocation, Dislocated wr...	OMIM:150250
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Elbow flexion contracture, Corneal scarr...	OMIM:148210
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Postaxial hand polydactyly, 2-3 toe syndactyly, Upslanted palpebral...	OMIM:264480
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma	OMIM:256540
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Chromosome 17Q12 Duplication Syndrome	Peters anomaly, Microphthalmia, Downslanted palpebral fissures, Broad thumb, Brachydactyly	OMIM:614526
Cataract 16, Multiple Types	Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract	OMIM:613763
3Q29 Microdeletion Syndrome	Cataract, Tapered finger, Abnormality of skin pigmentation, Pulmonary arterial hypertension, Clin...	ORPHA:65286
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Sparse eyelashes, Sandal gap, Highly arched eyebrow, Camptodactyl...	ORPHA:178303
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Frontal bossing, Elevated hepatic transaminase, Cataract, Portal hypertension, ...	OMIM:620005
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Wei...	ORPHA:2221
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Corneal opacity, Tapered finger, Short toe, Short foot, As...	ORPHA:464311
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno...	ORPHA:411634
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism	OMIM:614171
6P22 Microdeletion Syndrome	Clinodactyly, Finger syndactyly, Epicanthus, Hydrocephalus	ORPHA:251046
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Smith-Mccort Dysplasia 2	Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ...	OMIM:615222
Cranioectodermal Dysplasia 2	Unilateral ptosis, Cholangitis, Sparse hair, Syndactyly, Hepatomegaly, Cloverleaf skull, Rhizomel...	OMIM:613610
Chromosome 13Q14 Deletion Syndrome	Frontal bossing, Epicanthus, Overlapping toe, Single transverse palmar crease, Supernumerary nipp...	OMIM:613884
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Cataract	OMIM:601811
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Micromelia, Craniosynostosis, Split hand, Brachycephaly, Intraut...	ORPHA:2145
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Epicanthus, Toe syndactyly, Alopecia, Short hallux, Supernumerary nipple, Trun...	ORPHA:3224
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Abnormality iris morphology, Small nail	ORPHA:250999
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
8P11.2 Deletion Syndrome	Microcornea, Talipes equinovarus, Iris coloboma	ORPHA:251066
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Sparse eyebrow, Synoph...	ORPHA:495875
Galactosemia I	Cataract, Increased level of galactitol in plasma, Aminoaciduria, Increased level of galactonate ...	OMIM:230400
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Abnormal hair pattern, Small hand, Coarse hair, Short palm, Cli...	ORPHA:1786
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma	ORPHA:42775
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Alopecia, Sclerocornea, Hydrocephalus, Hypoplasia of the iris, Eyelid c...	OMIM:613001
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Opacification of the corne...	OMIM:158310
Orofaciodigital Syndrome I	Syndactyly, Epicanthus, Telecanthus, Dry hair, Alopecia, Frontal bossing, Pancreatic cysts, Myelo...	OMIM:311200
Weill-Marchesani Syndrome 2	Iridodonesis, Short metacarpal, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Short...	OMIM:608328
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Bilateral single transverse palmar creases, Highly a...	ORPHA:3253
Autosomal Recessive Multiple Pterygium Syndrome	Ptosis, Epicanthus, Telecanthus, Finger syndactyly, Camptodactyly of finger, Multiple pterygia, A...	ORPHA:2990
Pseudohypoparathyroidism Type 1C	Calcinosis, Short metacarpal, Cataract, Short fifth metatarsal, Confusion, Short metatarsal, Depr...	ORPHA:79444
Waardenburg Syndrome, Type 1	Telecanthus, White eyelashes, White eyebrow, Partial albinism, Spina bifida, Myelomeningocele, Sy...	OMIM:193500
Cerebellofaciodental Syndrome	Cataract, Single transverse palmar crease, Tapered finger, Sparse eyebrow, Shortening of all dist...	OMIM:616202
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Iris coloboma, Chorioretinal coloboma	OMIM:615219
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Corneal scarring, Conjunctivitis, Nail dystrophy, Nail dysplasia, Mitten defo...	OMIM:226600
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Cataract, Absent eyelashes, Hyperlipidemia, Breast aplasia...	ORPHA:90153
Cantú Syndrome	Finger syndactyly, Epicanthus, Broad hallux phalanx, Curly eyelashes, Short hallux, Coxa valga, L...	ORPHA:1517
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Epicanthus, Short metacarpal, Single transverse palmar crease, Monkey wrenc...	OMIM:615777
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration	ORPHA:370997
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Optic disc coloboma, Iris coloboma	OMIM:300472
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Frontal bossing, Cataract, Absent eyelashes, Abnormal hair morp...	ORPHA:861
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Finger syndactyly, Toe syndactyly, Leukocoria, Abnormality of the upper limb,...	ORPHA:1556
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C...	ORPHA:137675
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Harlequin Ichthyosis	Cataract, Foot polydactyly, Hand polydactyly	ORPHA:457
Holoprosencephaly 7	Frontal bossing, Midface retrusion, Flat occiput, Alobar holoprosencephaly, Synophrys, Bilateral ...	OMIM:610828
Werner Syndrome	Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c, Alopecia of scalp, Retinal degeneration	OMIM:277700
Marshall Syndrome	Retinal detachment, Cataract, Sparse eyelashes, Ectopia lentis, Sparse eyebrow, Abnormal vitreous...	ORPHA:560
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma, Micr...	ORPHA:2510
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Ulnar deviation of the hand, Single transverse palmar crease, Rocker...	OMIM:214100
Wilson Disease	Kayser-Fleischer ring, Abnormality of the hand, Depression	ORPHA:905
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Slender build, Single trans...	ORPHA:93932
Neu-Laxova Syndrome 1	Micromelia, Calcaneovalgus deformity, Neonatal death, Pterygium, Finger syndactyly, Spina bifida,...	OMIM:256520
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	ORPHA:2250
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Upslanted palpebral fissure, Narrow palpebral fissure, Sparse hair, Clinodactyly, Hir...	OMIM:618087
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap...	ORPHA:637
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hyperlipidemia, Optic ...	ORPHA:324
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Prader-Willi Syndrome	Short palm, Hypopigmentation of the skin, Iris hypopigmentation, Syndactyly, Acromicria, Obesity,...	OMIM:176270
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Finger syndactyly, Melanocytic nevus, Multiple cafe-au-lait ...	ORPHA:1969
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Lacrimal duct stenosis, Arachnodactyly, Sparse eyebrow, Short ...	ORPHA:73246
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Epicanthus, Frontal bossing, Microphthalmia, Widow's peak, Optic atrophy, Multiple ca...	OMIM:616975
Craniofrontonasal Syndrome	Ridged nail, Brachycephaly, Clinodactyly of the 5th finger, Split nail, Broad hallux, Hemihypotro...	OMIM:304110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating creatine kinase concentration, Optic atrophy, Developmental cataract, Pigmen...	OMIM:613154
Fanconi Anemia, Complementation Group F	Failure to thrive, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius,...	OMIM:603467
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndacty...	OMIM:101200
Limb-Mammary Syndrome	Syndactyly, Alopecia, Toe syndactyly, Chronic irritative conjunctivitis, Absent nipple, Sparse ey...	ORPHA:69085
Congenital Tufting Enteropathy	Cataract, Corneal erosion, Optic disc coloboma, Irritability, Punctate keratitis	ORPHA:92050
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Corneal opacity, Metaphyseal widening, Split hand, Genu valgum, Flared ilia...	OMIM:253200
Joubert Syndrome 33	Cone/cone-rod dystrophy, Syndactyly	OMIM:617767
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Optic disc pallor, Toe syndactyly, Corneal opacity, Arachnodactyly, Astigmatism, P...	ORPHA:464306
Usher Syndrome	Abnormality of retinal pigmentation, Cataract, Vestibular areflexia, Depression, Astigmatism, Cog...	ORPHA:886
Saethre-Chotzen Syndrome	Low anterior hairline, Brachycephaly, Partial duplication of the distal phalanx of the 3rd finger...	OMIM:101400
Wolf-Hirschhorn Syndrome	Rieger anomaly, Pseudoepiphyses of the metacarpals, Single transverse palmar crease, Short hallux...	OMIM:194190
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Sparse pubic hair, Microcornea, Blepharophimosis, Microphthal...	OMIM:110100
Scheie Syndrome	Corneal opacity	ORPHA:93474
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma...	ORPHA:79430
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Brachydactyly, Single transverse palmar crea...	OMIM:305400
Teebi Hypertelorism Syndrome 2	Syndactyly, Upper eyelid coloboma, Clinodactyly of the 5th finger, Thick eyebrow, Ptosis	OMIM:619736
Ataxia-Telangiectasia	Elevated hepatic transaminase, Hypopigmentation of hair, Telangiectasia of the skin, Premature gr...	ORPHA:100
Congenital Ptosis	Unilateral ptosis, Congenital Horner syndrome, Telecanthus, Epicanthus inversus, Piebaldism, Cong...	ORPHA:91411
Usher Syndrome Type 2	Depression, Cataract, Iris hypopigmentation	ORPHA:231178
Witteveen-Kolk Syndrome	Proximal placement of thumb, Clinodactyly, Anisocoria, Short palm, Clinodactyly of the 5th finger...	OMIM:613406
Pseudohypoparathyroidism Type 1B	Calcinosis, Cataract, Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal scleros...	ORPHA:94089
Galloway-Mowat Syndrome 3	Frontal bossing, Epicanthus, Arachnodactyly, Hip dislocation, Hypertension, Camptodactyly, Microp...	OMIM:617729
Microform Holoprosencephaly	Cyclopia, Iris coloboma	ORPHA:280200
Kbg Syndrome	Telecanthus, Single transverse palmar crease, Abnormal hair pattern, Synophrys, Cutaneous syndact...	ORPHA:2332
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Optic atrophy, Blue irides, Short...	OMIM:101800
Trichothiodystrophy	Ridged nail, Brittle hair, Microcornea, Macular degeneration, Conjunctivitis, Tiger tail banding,...	ORPHA:33364
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey...	ORPHA:2273
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Rothmund-Thomson Syndrome Type 1	Patellar hypoplasia, Sparse hair, Juvenile cataract, Short phalanx of finger, Hypopigmentation of...	ORPHA:221008
Fucosidosis	Corneal opacity, Abnormality of the nail	ORPHA:349
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Short attention span, Corneal opacity, Camptoda...	ORPHA:217093
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Retinal detachment, Cataract, Tapered finger, Abnormal toe morphology, Astigmatism...	ORPHA:268261
Developmental And Epileptic Encephalopathy 1	Plagiocephaly, Microphthalmia	OMIM:308350
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephal...	OMIM:610829
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad eyebrow, Cataract, Single transverse palmar crease, Synophrys, Melanocytic nevus, Abnormali...	OMIM:619475
Rapp-Hodgkin Syndrome	Syndactyly, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, 2-3 toe cu...	OMIM:129400
Fontaine Progeroid Syndrome	Synophrys, Low anterior hairline, Brachycephaly, Coarse hair, Neonatal death, Syndactyly, Tricusp...	OMIM:612289
Harrod Syndrome	Cataract, Arachnodactyly, Hypopigmented skin patches, Abnormal shoulder morphology, Abnormal pelv...	ORPHA:2115
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar c...	OMIM:612394
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Slow-growing hair, Proximal p...	ORPHA:1896
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration, Bowing of the legs	OMIM:615605
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Epicanthus, Proximal radio-ulnar synostosis, Bilateral single t...	ORPHA:794
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Myoclonic-Astatic Epilepsy	Microphthalmia, Frontal balding, Syndactyly	ORPHA:1942
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia, Corneal opacity, Iris coloboma	ORPHA:2396
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Single transverse palmar crease, Brushfield spots, Conjugated hyperbilirubinemia, Metat...	OMIM:614866
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Cataract, Optic atrophy, Depression, Head tremor, Mental deterioration, Memory im...	ORPHA:314404
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Broad hallux, Single transverse palmar crease, Sparse eyebrow, Optic disc coloboma...	OMIM:620186
Adams-Oliver Syndrome 5	Syndactyly, Hypoplastic toenails, Portal vein thrombosis, Hypersplenism, Splenomegaly, Pulmonary ...	OMIM:616028
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Short attention span, Corneal opacity, Progress...	ORPHA:580
Marden-Walker Syndrome	Epicanthus, Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Blepharoph...	OMIM:248700
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Camptodactyly of finger, Retin...	ORPHA:217085
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Hand monodactyly, Coloboma, Holoprosencephaly, Iri...	OMIM:214800
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Frontal bos...	ORPHA:87
Cat Eye Syndrome	Absent radius, Iris coloboma, Chorioretinal coloboma	OMIM:115470
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Clinodactyly, Arachnodactyly	OMIM:619092
Xeroderma Pigmentosum, Complementation Group D	Entropion, Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Micro...	OMIM:278730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Cataract, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy...	OMIM:253800
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Low anterior hairline, Coloboma, Hepatic hemangioma, Hypoplastic...	OMIM:180849
Osteopetrosis, Autosomal Recessive 9	Papilledema, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Oculocerebrorenal Syndrome Of Lowe	Chorioretinal dysplasia, Hypoammonemia, Abnormal pupil morphology, Aminoaciduria, Lentiglobus, Hy...	ORPHA:534
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Alkuraya-Kucinskas Syndrome	Cataract, Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Upslanted palpebral fissure, Plag...	OMIM:617822
Opitz-Kaveggia Syndrome	Syndactyly, Epicanthus, Frontal bossing, Broad hallux, Single transverse palmar crease, Hydroceph...	OMIM:305450
Pseudohypoparathyroidism Type 1A	Short metatarsal, Choreoathetosis, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Broad dista...	ORPHA:79443
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Cataract, Elevated circulating creatine kinase concentra...	ORPHA:363623
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly	OMIM:601163
Spondyloocular Syndrome	Long toe, Retinal detachment, Cataract, Arachnodactyly, Femur fracture, Overlapping toe, Long fin...	OMIM:605822
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Midface retrusion	ORPHA:1135
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Arachnodactyly, Spina bifida, Obesity, Multiple suture craniosynostos...	ORPHA:567
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ...	ORPHA:425
Monosomy 9Q22.3	Epicanthus, Cataract, Large for gestational age, Palmar pits, Hydrocephalus, Umbilical hernia, Po...	ORPHA:77301
Mohr Syndrome	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, Flared metaphys...	OMIM:252100
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Postaxial h...	OMIM:249000
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hypopigmentation of hair, Tremor, Hypopigmentation of the skin, Iris hypopi...	ORPHA:98794
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Low posterior hairline, Clino...	OMIM:300963
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Single transverse palmar crease, Synophrys, Brachycephaly, Clinodactyly of the 5th finger, Promin...	OMIM:612474
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Syndactyly, Hypermelanotic macule, Broad palm, Hypoplastic nipples, Clinodactyly of the 5th finge...	OMIM:618505
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Abnormality of retinal pigmentation, Scapular winging, Cataract, Short metacar...	OMIM:272460
Blau Syndrome	Nongranulomatous uveitis, Cataract, Camptodactyly of finger, Band keratopathy, Uveitis, Iritis, F...	OMIM:186580
Kindler Epidermolysis Bullosa	Finger syndactyly, Corneal opacity, Camptodactyly of finger, Abnormality of skin pigmentation, Pa...	ORPHA:2908
Methylcobalamin Deficiency Type Cble	Syndactyly, Hydrocephalus, Hypertension, Abnormality of the liver, Intrauterine growth retardatio...	ORPHA:2169
Peters-Plus Syndrome	Short palm, Syndactyly, Short metacarpal, Cataract, Rhizomelia, Single transverse palmar crease, ...	OMIM:261540
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Retinopathy, Progressive neurologic deterioration, Hypoma...	OMIM:219800
Mucopolysaccharidosis, Type Iva	Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal wi...	OMIM:253000
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia, Talipes equinovarus, Camptodactyly	OMIM:608104
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Cataract, Hand muscle weakness, Areflexia of upper limbs...	ORPHA:99956
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Cataract, Iridocyclitis, Keratoconjunctivitis, Pigmentary retinopathy, Perifoveal ring ...	OMIM:240300
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Cataract, Micromelia, Short long bone, Talipes equinovarus, Pterygium	OMIM:224410
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Schizophrenia 1	Syndactyly, Flat occiput, Frontal bossing, Short proximal phalanx of the 4th toe	OMIM:181510
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Epicanthus, Overlapping fingers, Overlapping toe, Hip dysplasia, Prominent fingertip pads, Microp...	OMIM:618494
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Heart murmur, Blepharophimosis, Intrauterine growth retardation,...	ORPHA:2728
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo...	ORPHA:166119
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Hypoplastic fingernail, Onychogryposis of fingernail, Arachnodactyly, Long pal...	ORPHA:2215
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Abnormal hair morphology, Abnormal vitreous humor m...	ORPHA:1571
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Hypophosphatemia, Pigmentary retinopathy, Abnormal cornea morph...	ORPHA:411629
Pfeiffer Syndrome	Finger syndactyly, Ptosis, Brachydactyly, Turricephaly, Symphalangism affecting the phalanges of ...	ORPHA:710
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Toe syndactyly, Supernumerary nipple, Hypertension, Pulmonary arterial h...	OMIM:100300
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Townes-Brocks Syndrome	Broad hallux phalanx, Toe clinodactyly, Cataract, Toe syndactyly, Preaxial hand polydactyly, Part...	ORPHA:857
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto...	ORPHA:1788
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Synophrys, Aplasia of the distal p...	OMIM:608670
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Telecanthus, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Front...	ORPHA:1974
Monosomy 9P	Epicanthus, Thin nail, Highly arched eyebrow, Proximal placement of thumb, Abnormality of the tar...	ORPHA:261112
Schimke Immunoosseous Dysplasia	Hypermelanotic macule, Hypoplasia of the capital femoral epiphysis, Fine hair, Coarse hair, Astig...	OMIM:242900
Fryns Syndrome	Clinodactyly of the 5th finger, Corneal opacity, Short distal phalanx of finger, Hypoplastic fing...	ORPHA:2059
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Hypopigmented skin pa...	ORPHA:2907
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Frontal bossing, Epicanthus, Cataract, Corneal opacity, Multiple cafe-au-la...	ORPHA:1052
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Tapered finger, Long fingers, Synophrys, Low anterior hairline, 2-3 toe syndactyly, U...	OMIM:616734
Rothmund-Thomson Syndrome Type 2	Patellar hypoplasia, Sparse hair, Juvenile cataract, Short phalanx of finger, Hypopigmentation of...	ORPHA:221016
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Cataract, Hypermelanotic macule, Keratitis, Optic atrophy,...	ORPHA:910
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Promin...	OMIM:617895
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Sparse scalp hair, Arachnodact...	ORPHA:394
Intellectual Developmental Disorder, Autosomal Recessive 78	Optic neuropathy, Clinodactyly of the 5th finger, Cubitus valgus, Hypopigmentation of the skin, B...	OMIM:620237
Kbg Syndrome	Syndactyly, Telecanthus, Single transverse palmar crease, Synophrys, Ulnar deviation of the 2nd f...	OMIM:148050
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ch...	OMIM:267750
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cataract, Rocker bottom foot, Tapered finger, Finger clinodactyly, Long eyelashes, Absent axillar...	OMIM:601353
Alagille Syndrome	Keratoconus, Hypoplasia of the ulna, Corneal dystrophy, Abnormal pupil morphology, Clinodactyly o...	ORPHA:52
Cadds	Cataract, Increased circulating very long-chain fatty acid concentration, Dystonia	ORPHA:369942
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Camptodactyly of toe, Pterygium, Dislocated radial head, Syndactyly, Arach...	OMIM:265000
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Small nail	OMIM:615631
Chops Syndrome	Curly hair, Cataract, Thick hair, Synophrys, Optic atrophy, Coarse hair, Long eyelashes, Thick ey...	OMIM:616368
Oligoarticular Juvenile Idiopathic Arthritis	Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy	ORPHA:85410
Orofaciodigital Syndrome Type 6	Syndactyly, Epicanthus, Mesoaxial polydactyly, Frontal bossing, Highly arched eyebrow, Central Y-...	ORPHA:2754
Familial Isolated Hypoparathyroidism	Cataract, Hypocalcemia	ORPHA:2238
Peters Plus Syndrome	Cataract, Corneal opacity, Toe syndactyly, Micromelia, Rhizomelia, Short toe, Optic atrophy, Micr...	ORPHA:709
Chediak-Higashi Syndrome	Hypopigmentation of hair, Tremor, Silver-gray hair, Ocular albinism, Giant melanosomes in melanoc...	OMIM:214500
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Lymphedema-Distichiasis Syndrome	Ptosis, Yellow nails, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions, Microphthal...	OMIM:153400
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Mesenteric cyst, Overlapping toe, Highly arched eyebrow, Long fingers, Synophrys, Cutan...	OMIM:618316
Mucolipidosis Ii Alpha/Beta	Brittle hair, Increased serum beta-hexosaminidase, Metaphyseal widening, Sparse hair, Megalocorne...	OMIM:252500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Finger syndactyly, Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumera...	ORPHA:1071
Degcags Syndrome	Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, Hy...	OMIM:619488
Postaxial Acrofacial Dysostosis	Finger syndactyly, Hypoplasia of the ulna, Camptodactyly of finger, Supernumerary nipple, Ectropi...	ORPHA:246
Fanconi Anemia, Complementation Group D2	Small for gestational age, Absent thumb, Absent radius, Short thumb, Hydrocephalus, Preaxial hand...	OMIM:227646
Congenital Disorder Of Deglycosylation 1	Corneal opacity, Single transverse palmar crease, Elevated circulating alpha-fetoprotein concentr...	OMIM:615273
Agel Amyloidosis	Deficit in phonologic short-term memory, Cataract, Depression, Keratoconjunctivitis sicca, Nail d...	ORPHA:85448
Xeroderma Pigmentosum, Complementation Group B	Pigmentary retinopathy, Freckling, Cataract, Optic atrophy	OMIM:610651
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp...	ORPHA:3429
Kenny-Caffey Syndrome, Type 2	Papilledema, Small for gestational age, Retinal calcification, Microphthalmia, Thickened cortex o...	OMIM:127000
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93259
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Blepharophimosis, Syndactyly, Epicanthus, Camptodactyly	OMIM:616006
Legius Syndrome	Short attention span, Inguinal freckling, Cataract, Dystonia, Axillary freckling, Diaphyseal dysp...	ORPHA:137605
Cutis Laxa, Autosomal Recessive, Type Iiib	Cataract, Developmental glaucoma, Hip dislocation, Elbow flexion contracture, Fine hair, Athetosi...	OMIM:614438
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Frontal bossing, Absent gallbladder, Postaxial polydactyly, Short tibia, Preaxial polydactyly, Hy...	OMIM:617925
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Optic nerve hypoplasia, Hand oligodactyly, Anisocoria, Abnormal pupil shape	ORPHA:45358
Cockayne Syndrome A	Hip contracture, Dry hair, Cataract, Retinal atrophy, Tremor, Retinal pigment epithelial mottling...	OMIM:216400
Orofaciodigital Syndrome Type 1	Brittle hair, Coarse hair, Sparse hair, Clinodactyly of the 5th finger, Finger syndactyly, Alopec...	ORPHA:2750
Koolen-De Vries Syndrome	Hypopigmentation of hair, Cataract, Arachnodactyly, Abnormality of hair texture, Hip dislocation	ORPHA:96169
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Corneal arcus, Abnormal LDL cholesterol concentration	OMIM:603776
Neu-Laxova Syndrome 2	Ablepharon, Finger syndactyly, Toe syndactyly, Cataract, Rocker bottom foot, Spina bifida, Intrau...	OMIM:616038
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Nail dystrophy, Hypocholesterolemia	ORPHA:31150
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Trichinellosis	Confusion, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Irritability, Conjun...	ORPHA:863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Bup...	OMIM:253280
Fanconi Anemia, Complementation Group R	Microphthalmia, Hydrocephalus, Radial dysplasia, Absent thumb	OMIM:617244
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma, Dystonia	OMIM:251290
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease, Hepatomegaly	OMIM:619053
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Metaphyseal widening, Tibial bowing, Retinal calcification, Exudative ret...	OMIM:259770
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Long Qt Syndrome 8	Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo...	OMIM:618447
Fanconi Anemia, Complementation Group C	Epicanthus, Small for gestational age, Absent thumb, Absent radius, Short thumb, Microphthalmia, ...	OMIM:227645
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Small hand, Optic a...	ORPHA:50
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Optic atrophy, Hyperpigmentation of the skin, Palmoplantar hyperkeratosis	OMIM:231550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration	OMIM:616538
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Short metatarsal, Macular degeneration, Clinodactyly of the 5th finger, Short phalanx of finger, ...	OMIM:266920
Fanconi Anemia, Complementation Group E	Small for gestational age, Absent thumb, Absent radius, Short thumb, Microphthalmia, Cafe-au-lait...	OMIM:600901
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Sparse scalp hair, Frontal bossing, Optic nerve hypoplasia, 2-3 toe cutane...	OMIM:620029
Charcot-Marie-Tooth Disease Type 1E	Hand muscle atrophy, Hand muscle weakness, Abnormal pupil morphology, Split hand, Anisocoria, Ham...	ORPHA:90658
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Optic disc pallor, Dry hair, Retinal atrophy, Cataract, Hepatomega...	ORPHA:90324
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Yunis-Varon Syndrome	Congenital hip dislocation, Flat occiput, Single transverse palmar crease, Sclerocornea, Short me...	OMIM:216340
Mend Syndrome	Cataract, Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Spotty hypopigmentatio...	OMIM:300960
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Lathosterolosis	Toe syndactyly, Cataract, Postaxial hand polydactyly, Microcornea, Postaxial foot polydactyly, Op...	ORPHA:46059
Ring Chromosome 12 Syndrome	Syndactyly, Abnormal 5th finger morphology, Dystrophic toenail, Symphalangism of the thumb, Clino...	ORPHA:1439
Autosomal Recessive Robinow Syndrome	Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Synostosis of carpal ...	ORPHA:1507
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Vici Syndrome	Hypopigmentation of hair, Cataract, Macular atrophy, Elevated circulating creatine kinase concent...	OMIM:242840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cataract, Peters anomaly, Hydrocephalus, Buphthalmos, Persistent pupillary membran...	OMIM:613150
Fryns Syndrome	Prominent fingertip pads, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal pl...	OMIM:229850
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Albinism	OMIM:614075
Larsen Syndrome	Finger syndactyly, Short nail, Accessory carpal bones, Abnormal epiphysis morphology, Broad dista...	ORPHA:503
Weill-Marchesani Syndrome 1	Cataract, Ectopia lentis, Microspherophakia, Broad palm, Shallow anterior chamber, Broad phalange...	OMIM:277600
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Frontal bossing, Lacrimal duct stenosis, Fai...	OMIM:151050
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Brachydactyly, Overlapping toe, Small hand, Short foot, Bilateral talip...	ORPHA:177907
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Sclerosteosis 1	Syndactyly, Papilledema, Frontal bossing, 2-3 finger syndactyly, Optic atrophy, Facial palsy seco...	OMIM:269500
Bloom Syndrome	Syndactyly, Hepatic steatosis, Small for gestational age, Dolichocephaly, Spotty hypopigmentation...	OMIM:210900
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Cataract, Metaphyseal dysplasia, Pro...	OMIM:600373
Fanconi Anemia, Complementation Group A	Small for gestational age, Absent thumb, Absent radius, Short thumb, Abnormality of skin pigmenta...	OMIM:227650
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Epiphyseal dysplasia, Cataract, Congenital hip dislocation, Optic atrop...	OMIM:617913
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Frontal bossing, Small hand, Short foot, Severe intrauterine growth retardation, Short palm, Micr...	OMIM:241410
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Epicanthus, Congenital hip dislocation, Absent nipple, Cubitus valgus, Hydrocephalus,...	OMIM:104350
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Clinodactyly, ...	OMIM:309800
Epidermal Nevus Syndrome	Astigmatism, Hypopigmentation of the skin, Weakness of long finger extensor muscles, Hyperpigment...	ORPHA:35125
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Sparse eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the patella, Sp...	ORPHA:2909
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Cataract, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elb...	ORPHA:90652
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal circulating cholesterol concentration, Cataract, Dementia	OMIM:213700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus	OMIM:144010
Renpenning Syndrome 1	Epicanthus, Telecanthus, Brittle hair, Cataract, Brachycephaly, Upslanted palpebral fissure, Colo...	OMIM:309500
Proteus Syndrome	Central heterochromia, Pulmonary embolism, Abnormal finger morphology, Abnormality of skin pigmen...	ORPHA:744
Chédiak-Higashi Syndrome	Hyponatremia, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypertriglycerid...	ORPHA:167
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Tremor, Hand tremor, K...	OMIM:277900
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti...	ORPHA:238468
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Distal upper limb muscle weakness, Elevated circulating creatinine concentration, Elevated circul...	OMIM:620138
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia, Cryptophthalmos, Ankyloblepharon	OMIM:123570
Autosomal Dominant Robinow Syndrome	Micromelia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyly, Alopecia, C...	ORPHA:3107
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Tremor, Synophrys, Sparse hair, Long toe, Confusion, 2-3 toe syndactyly, H...	ORPHA:3455
Acrocallosal Syndrome	Finger syndactyly, Epicanthus, Toe syndactyly, Frontal bossing, Duplication of thumb phalanx, Tap...	OMIM:200990
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Cataract, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Large hands, Astigmatism...	ORPHA:500095
Cockayne Syndrome	Dry hair, Lentiglobus, Retinal degeneration, Hepatomegaly, Retinal atrophy, Abnormal cornea morph...	ORPHA:191
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Epicanthus, Telecanthus, Tricuspid regurgitation, Midface retrusion, Frontal bossing,...	OMIM:616894
Phace Association	Optic nerve hypoplasia, Patent ductus arteriosus, Optic atrophy, Increased retinal vascularity, M...	OMIM:606519
Oculoectodermal Syndrome	Supernumerary nipple, Chorioretinal atrophy, Hyperpigmented streaks, Microcornea, Astigmatism, Op...	OMIM:600268
Gaucher Disease	Corneal opacity, Elevated circulating C-reactive protein concentration, Tremor, Depression, Abnor...	ORPHA:355
Aicardi Syndrome	Retinal detachment, Cataract, Proximal placement of thumb, Spina bifida, Optic disc coloboma, Opt...	OMIM:304050
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Hydrocephalus, Polydactyly, Complete duplication of thu...	ORPHA:59315
Sponastrime Dysplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip...	ORPHA:93357
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Joubert Syndrome 17	Preaxial polydactyly, Abnormal retinal morphology, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly, Microphthalmia, Umbi...	ORPHA:2166
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Telecanthus, Brachydactyly, Proximal placement of thumb, Cardiomyopathy, Short palm, ...	OMIM:217980
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Large for gestational age, Small nail, Umbilical hernia, Failure to thrive	OMIM:614520
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger c...	ORPHA:508488
Neonatal Marfan Syndrome	Long toe, Iridodonesis, Arachnodactyly, Ectopia lentis, Long fingers, Increased arm span, Megaloc...	ORPHA:284979
Collagenoma, Familial Cutaneous	Iris atrophy, Congenital posterior occipital alopecia	OMIM:115250
Lacrimoauriculodentodigital Syndrome	Abnormal digit morphology, Syndactyly, Finger syndactyly, Increased corneal thickness, Hypoplasia...	ORPHA:2363
Lathosterolosis	Cataract, Toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Abnormal circul...	OMIM:607330
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Split hand, Popliteal pterygium, Abnormality of the nail, Gene...	ORPHA:1300
Heart And Brain Malformation Syndrome	Hand clenching, Microphthalmia, Camptodactyly of finger, Prominent occiput	OMIM:616920
Transketolase Deficiency	Cataract, Uveitis, Conjunctivitis, Attention deficit hyperactivity disorder, Elevated circulating...	ORPHA:488618
X Small Rings	Epicanthus, Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous...	ORPHA:96201
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93260
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Freckling, Conjunctivitis, Hypopigmentation of the skin	OMIM:278720
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Corneal scarring, Conjunctivitis, Joint contracture ...	OMIM:263700
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Coffin-Siris Syndrome 12	Synophrys, Low anterior hairline, Highly arched eyebrow, Short thumb, Small nail, Midface retrusi...	OMIM:619325
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Elevated circulating creatinine concentration, Confusion, Increased blood urea nitrogen	OMIM:274150
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Optic disc pallor, Optic nerve hypoplasia, Camptodactyly of finger, Abnorm...	ORPHA:468631
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot...	ORPHA:2008
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Poland Syndrome	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A...	ORPHA:2911
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal pupil morphology, Calcaneovalgus deformity, Microcornea, Long hallux, Iris coloboma, Lon...	ORPHA:261552
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Abnormal fingernail morphology, Adactyly, Split hand, Aplasia/H...	ORPHA:989
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia	ORPHA:542323
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Hydrocephalus, Upslanted palpebral fissure, Bilateral talipes equino...	OMIM:614083
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Ab...	ORPHA:2886
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Camptodactyly of finger, Meningocele, Prominent occiput, Umbilical hernia, Spi...	ORPHA:2311
Mosaic Trisomy 16	Syndactyly, Small for gestational age, Single transverse palmar crease, Large placenta, Short thu...	ORPHA:1708
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Single transverse palmar crease, Tapered finger, Camptodactyly	ORPHA:435938
Bosma Arhinia Microphthalmia Syndrome	Cataract, Synophrys, Lacrimal duct atresia, Coloboma, Microphthalmia, Midface retrusion	OMIM:603457
Alagille Syndrome 1	Hypoplasia of the ulna, Cataract, Hypertriglyceridemia, Band keratopathy, Abnormal anterior chamb...	OMIM:118450
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Cataract, Rhizomelia, Bowing of the long bones, Aplastic clavicle, Flared metap...	ORPHA:50945
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Anisocoria, Hammertoe, Hip dysplasia, Abnormal optic nerve morphology, Head tremor	ORPHA:99949
Monosomy 22	Finger syndactyly, Epicanthus, Single transverse palmar crease, Synophrys, Clubbing, Hepatospleno...	ORPHA:96123
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Proboscis, Alobar holoprosencephaly, Holoprosencephaly, ...	OMIM:157170
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Multiple System Atrophy 1, Susceptibility To	Tremor, Iris atrophy, Cognitive impairment	OMIM:146500
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Cataract, Renal hypophosphatemia, Elevated circulating cre...	ORPHA:1652
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational...	ORPHA:84064
Facial Spasm	Anisocoria	OMIM:134300
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Clinodactyly of the 5th finger, Short tibia, Short phalanx of finger...	OMIM:268305
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Osteogenesis Imperfecta	Bowing of the long bones, Corneal opacity, Rhizomelia, Micromelia, Protrusio acetabuli, Fractures...	ORPHA:666
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Long toe, Cataract, Ulnar deviation of the hand, Broad hallux, Arachno...	ORPHA:261537
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Short thumb...	OMIM:263750
Pallister-Hall Syndrome	Large for gestational age, Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Trigonocephal...	ORPHA:672
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra...	OMIM:304120
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Craniotubular Dysplasia, Ikegawa Type	Thickened calvaria, Metaphyseal dysplasia, Epicanthus, Optic neuropathy, Dolichocephaly, Phthisis...	OMIM:619727
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Confusion, Elevated circulating creatinine co...	ORPHA:36234
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Small hand, Obesity, Short foot, Chorioretinal hypopigmentation, Hip dy...	ORPHA:398079
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Blepharophimosis, Hydrocephalus, Partial duplication of th...	OMIM:164210
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Cognitive impairment, Increased bl...	OMIM:235400
Vacterl/Vater Association	Occipital encephalocele, Finger syndactyly, Preaxial hand polydactyly, Abnormality of the pancrea...	ORPHA:887
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Doors Syndrome	Abnormal finger morphology, Low anterior hairline, Brachycephaly, Absent fingernail, Triphalangea...	ORPHA:79500
Cohen-Gibson Syndrome	Cataract, Thin nail, Coxa valga, Long fingers, Flared metaphysis, Melanocytic nevus, Large hands,...	OMIM:617561
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Metatarsus adductus, Widow's peak, Broad palm, Brachycephaly,...	OMIM:227330
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Cataract, Ulnar deviation of the hand, Broad hallux, Tapered...	ORPHA:2152
Mowat-Wilson Syndrome	Cataract, Supernumerary nipple, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris colob...	OMIM:235730
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia, Hypopigmentation of the skin, Ir...	ORPHA:98754
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Coloboma, Hepatic fibrosis, Neonatal death, Intrahepatic bile duct dilatatio...	OMIM:619534
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia, Dystonia	ORPHA:79233
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Congenital hip dislocation, Hepatoblastoma, Clinodactyly of the 5th finger, ...	ORPHA:373
Lenz-Majewski Hyperostotic Dwarfism	Thickened calvaria, Finger syndactyly, Hypoplastic fingernail, Abnormal nasolacrimal system morph...	ORPHA:2658
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Abnormal fingernail morphology, Supernumerary nipple, Craniosynostosis, Sparse eyebro...	ORPHA:1521
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra...	ORPHA:958
Williams Syndrome	Elevated circulating creatine kinase concentration, Hypoplastic toenails, Tremor, Clinodactyly of...	ORPHA:904
Crane-Heise Syndrome	Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Talipes equinovarus, ...	ORPHA:1512
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia, Hypopigmentation of the skin, Ir...	ORPHA:98793
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia, Hypopigmentation of the skin, Ir...	ORPHA:177904
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Thick hair, Short tibia, Adactyly, Broad first metatarsal, Posta...	ORPHA:2751
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Brachydactyly, Highly arched eyebrow, Short toe, Widow's peak, Brachycephaly, ...	ORPHA:1519
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia, Hypopigmentation of the skin, Ir...	ORPHA:177901
Autosomal Dominant Cutis Laxa	Corneal opacity, Hip dislocation, Developmental cataract, Talipes equinovarus, Adducted thumb	ORPHA:90348
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Corneal opacity	ORPHA:2072
Hydrolethalus Syndrome 1	Accessory spleen, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx o...	OMIM:236680
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra...	OMIM:601005
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Corneal opacity, Alopecia totalis, Hypermelanotic macule, Coxa valga, Limited wri...	ORPHA:740
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Narrow joint spaces of the elbow, Syndactyly, Frontal bossing, Small for gestational age, Severe ...	ORPHA:96182
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Small hand, Short foot, Chorioretinal hypopigmentation, Hip dysplasia, ...	ORPHA:398069
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Oligomeganephronia	Optic disc coloboma, Elevated circulating creatinine concentration	ORPHA:2260
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypoplastic scapula...	OMIM:256040
Menkes Disease	Gastrointestinal hemorrhage, Bowing of the long bones, Hypopigmentation of hair, Tarsal synostosi...	ORPHA:565
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Obesity, Cholestasis	OMIM:609734
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Frontal bossing, Epicanthus, Telecanthus, Sandal gap, Optic nerve hypopla...	OMIM:620330
Fraser Syndrome 2	Microphthalmia, Low anterior hairline, Cryptophthalmos, Cutaneous syndactyly	OMIM:617666
Holoprosencephaly 1	Proboscis, Alobar holoprosencephaly, Microphthalmia, Cyclopia, Ethmocephaly, Midface retrusion	OMIM:236100
Blau Syndrome	Cataract, Camptodactyly of finger, Keratitis, Iridocyclitis, Retrobulbar optic neuritis, Abnormal...	ORPHA:90340
Robinow Syndrome	Syndactyly, Brachydactyly, Frontal bossing, Small for gestational age, Bifid distal phalanx of th...	ORPHA:97360
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Coloboma, Syndactyly, Broad hallux, Highly arched eyebrow, Pilomatrixoma, Obesity, Widened distal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Coloboma, Syndactyly, Broad hallux, Highly arched eyebrow, Pilomatrixoma, Obesity, Widened distal...	ORPHA:353277
Lacrimoauriculodentodigital Syndrome 1	Preaxial polydactyly, Radial deviation of the 3rd finger, Conjunctivitis, Triphalangeal thumb, Cl...	OMIM:149730
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Arachnodactyly, Abnormality iris morphology	ORPHA:91387
Constricting Bands, Congenital	Encephalocele, Syndactyly, Eyelid coloboma, Hand polydactyly, Talipes equinovarus	OMIM:217100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Retinal dysplasia, Optic nerve dysplasia, Elevated circulating creatine kinase concentration, Opa...	OMIM:615287
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Keratitis, Absent eyelashe...	OMIM:308205
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Senior-Loken Syndrome 1	Retinal dystrophy, Elevated circulating creatinine concentration	OMIM:266900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Bilateral microphthalmos, Retina...	ORPHA:93325
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Cerebrofacioarticular Syndrome	Syndactyly, Epicanthus, Talipes equinovarus, Pulmonic stenosis, Camptodactyly, Blepharophimosis, ...	ORPHA:314679
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Small for gestat...	OMIM:107480
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Patent ductus arteriosus, Posta...	ORPHA:2473
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Confusion, Elevated circulat...	ORPHA:99826
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Scapular winging, Short metacarpal, Sparse scalp hair, Single transverse palmar creas...	OMIM:150230
Neurooculorenal Syndrome	Iris atrophy, Short hallux, Highly arched eyebrow, Conjugated hyperbilirubinemia, Talipes equinov...	OMIM:620305
Hartsfield Syndrome	Syndactyly, Epicanthus, Craniosynostosis, Alobar holoprosencephaly, Lobar holoprosencephaly, Ectr...	OMIM:615465
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Syndactyly, Failure to thrive	OMIM:616430
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Hepatomegaly, Small for gestational age, Splenomegaly, Prolonged neonatal jaundice	OMIM:224120
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Elevated circulating creatinine concentration	OMIM:617478
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga...	ORPHA:90038
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Hepatomegaly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus,...	OMIM:620025
Fraser Syndrome 3	Short toe, Hydrocephalus, Cutaneous syndactyly, Stillbirth, Cryptophthalmos	OMIM:617667
Grange Syndrome	Syndactyly, Renovascular hypertension, Finger clinodactyly, Decreased body weight, Brachydactyly	OMIM:602531
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Wrist swelling, Hip dislocation, Corneal scarring, Ge...	OMIM:309000
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Bilateral microphthalmos, Lower eyelid coloboma, ...	OMIM:154500
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Patent ductus arte...	OMIM:192350
Tetraamelia Syndrome 1	Cataract, Asplenia, Hydrocephalus, Hypoplastic pelvis, Microphthalmia	OMIM:273395
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Cardiogenic Shock	Elevated circulating creatinine concentration, Confusion	ORPHA:97292
Prader-Willi Syndrome	Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia, Attention deficit hyperactivity ...	ORPHA:739
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bilateral talipes...	OMIM:600145
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration, Confusion	ORPHA:340
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Hennekam Syndrome	Finger syndactyly, Epicanthus, Camptodactyly of finger, Craniosynostosis, Sparse axillary hair, S...	ORPHA:2136
Isolated Arrhinia	Microphthalmia, Eyelid coloboma	ORPHA:1134
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Hypoplastic toenails, Preaxial hand polyd...	ORPHA:2753
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynostosis, Hydroce...	OMIM:610168
Mckusick-Kaufman Syndrome	Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly	OMIM:236700
Digeorge Syndrome	Attention deficit hyperactivity disorder, Posterior embryotoxon, Hypocalcemia, Sclerocornea	OMIM:188400
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Vascular Ehlers-Danlos Syndrome	Keratoconus, Alopecia, Congenital hip dislocation, Abnormality of hair texture, Abnormal eyelash ...	ORPHA:286
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ...	ORPHA:449395
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Myo10

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Myo10.

There are 17 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Mechanisms underlying Myosin 10's contribution to the maintenance of mitotic spindle bipolarity.	Molecular biology of the cell (November 2023)	Myo10^{tm1c(KOMP)Wtsi} Myo10^{tm1d(KOMP)Wtsi}	PMC10881153
MYO10 drives genomic instability and inflammation in cancer.	Science advances (September 2021)	Myo10^{tm1d(KOMP)Wtsi}	PMC8443186
Filopodia powered by class x myosin promote fusion of mammalian myoblasts.	eLife (September 2021)	Myo10^{tm1c(KOMP)Wtsi}	PMC8500716
Myosin 10 Regulates Invasion, Mitosis, and Metabolic Signaling in Glioblastoma.	iScience (November 2020)	Myo10^{tm1c(KOMP)Wtsi}	PMC7702012
Myosin X Interaction with KIF13B, a Crucial Pathway for Netrin-1-Induced Axonal Development.	The Journal of neuroscience : the official journal of the Society for Neuroscience (October 2020)	Myo10^{tm1c(KOMP)Wtsi}	PMC7687062
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Myo10^{tm2(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Myo10^{tm2(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Myo10^{tm2(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Myo10^{tm2(KOMP)Wtsi}	PMC6459510
Phenotypic analysis of Myo10 knockout (Myo10tm2/tm2) mice lacking full-length (motorized) but not brain-specific headless myosin X.	Scientific reports (January 2019)	Myo10^{tm2(KOMP)Wtsi}	PMC6345916
Myosin X is required for efficient melanoblast migration and melanoma initiation and metastasis.	Scientific reports (July 2018)	Myo10^{tm2(KOMP)Wtsi}	PMC6041326
Myosin 10 is involved in murine pigmentation.	Experimental dermatology (April 2018)	Myo10^{tm2(KOMP)Wtsi}	PMC6519374
Myosin-X knockout is semi-lethal and demonstrates that myosin-X functions in neural tube closure, pigmentation, hyaloid vasculature regression, and filopodia formation.	Scientific reports (December 2017)	Myo10^{tm1c(KOMP)Wtsi} Myo10^{tm1a(KOMP)Wtsi} Myo10^{tm1d(KOMP)Wtsi}	PMC5725431
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Myo10^{tm2(KOMP)Wtsi}	PMC5827107
Multiple roles of filopodial dynamics in particle capture and phagocytosis and phenotypes of Cdc42 and Myo10 deletion.	The Journal of biological chemistry (March 2017)	Myo10^{tm2(KOMP)Wtsi}	PMC5409491
Improving the Identification of Phenotypic Abnormalities and Sexual Dimorphism in Mice When Studying Rare Event Categorical Characteristics.	Genetics (December 2016)	Myo10^{tm2(KOMP)Wtsi}	PMC5289831
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource.	Mammalian genome : official journal of the International Mammalian Genome Society (August 2013)	Myo10^{tm2(KOMP)Wtsi}	PMC3745610

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MGI Allele	Allele Type	Produced
Myo10^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Myo10^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Myo10^{tm2(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells
Myo10^{tm242153(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Myo10 MGI:107716

Gene Summary

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Phenotypes

lacZ Expression

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Eye Morphology

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Eye Morphology

X-ray

Anti-nuclear antibody assay

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Myo10 mutations

Histopathology

IMPC related publications

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