Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Tgfa MGI:98724

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

transforming growth factor alpha

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Tgfa 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 Tgfa (1 diseases)
Human diseases predicted to be associated with Tgfa (1268 diseases)

The table below shows human diseases associated to Tgfa by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Oligodontia		Enamel hypoplasia	ORPHA:99798

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

Disease	Matching phenotypes	Source
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Uncombable Hair Syndrome 2	Uncombable hair, Juvenile cataract, Pili canaliculi	OMIM:617251
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Microcorne...	OMIM:234050
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Spa...	OMIM:602400
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te...	ORPHA:2891
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea...	ORPHA:1806
Clouston Syndrome	Alopecia, Cataract, Sparse eyelashes, Brittle hair, Alopecia totalis, Slow-growing hair, Sparse e...	OMIM:129500
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Elb...	OMIM:148210
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d...	OMIM:619016
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Chand Syndrome	Curly hair, Ankyloblepharon, Nail dysplasia	OMIM:214350
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ...	ORPHA:79414
Woolly Hair	Hypopigmentation of hair, Cataract, Slow-growing hair, Brittle hair, Abnormality of hair texture,...	ORPHA:170
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nail d...	OMIM:226600
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis	OMIM:620086
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Foll...	OMIM:612843
Winchester Syndrome	Corneal opacity, Hirsutism	OMIM:277950
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Folli...	OMIM:308800
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Cardiofaciocutaneous Syndrome 2	Absent eyebrow, Curly hair, Fine hair, Sparse hair, Ptosis	OMIM:615278
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Epicanthus, Sparse eyelashes, Decreased response to growth hormone st...	OMIM:615280
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Monilethrix	Abnormal eyebrow morphology, Cataract, Slow-growing hair, Brittle hair, Abnormal eyelash morpholo...	ORPHA:573
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Osteomyelitis, Keratitis, Corneal scarring, Nail dystrophy, Recurrent corneal ...	OMIM:256800
Noonan Syndrome 9	Curly hair, Prominent corneal nerve fibers, Sparse eyebrow, Downslanted palpebral fissures, Ptosis	OMIM:616559
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia, Orbital cyst, Coloboma	OMIM:251505
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Trichothiodystrophy 1, Photosensitive	Cataract, Brittle hair, Trichoschisis, Flexion contracture, Absence of subcutaneous fat, Fine hai...	OMIM:601675
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
X-Linked Intellectual Disability, Stocco Dos Santos Type	Epicanthus, Cataract, Hirsutism	ORPHA:85288
Gómez-López-Hernández Syndrome	Toenail dysplasia, Telecanthus, Alopecia of scalp, Corneal opacity	ORPHA:1532
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog...	ORPHA:891
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis...	OMIM:602562
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconj...	OMIM:158310
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Bronchiectasis, Corneal scarring, Colitis, Frontal upsweep of hair, Broad ey...	OMIM:301220
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ...	OMIM:258360
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczema, Keratoconjunctivitis	ORPHA:79242
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Epicanthus, Bilateral ptosis, Synophrys, Upslanted palpebral fissure, Coarse hair	OMIM:616351
Microcephaly-Microcornea Syndrome, Seemanova Type	Epicanthus, Cataract, Upslanted palpebral fissure, Microcornea, Microphthalmia	ORPHA:2528
Peroxisome Biogenesis Disorder 10A (Zellweger)	Epicanthus, Cataract, Downslanted palpebral fissures	OMIM:614882
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Nail dystrophy, Trichodysplasia...	ORPHA:2890
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Leopard Syndrome 2	Curly hair, Epicanthus, Downslanted palpebral fissures	OMIM:611554
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Viral hepatitis, Ectropion, Scarring, Hypertrichosis, Cornea...	ORPHA:101330
Naxos Disease	Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture	ORPHA:34217
Copper Deficiency, Familial Benign	Curly hair, Early balding, Seborrheic dermatitis	OMIM:121270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal...	ORPHA:1473
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo...	ORPHA:90354
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Keratoconjunc...	ORPHA:238468
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Corneal scarring, Atypical scarring of skin, Conjunc...	OMIM:263700
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Noonan Syndrome 6	Curly hair, Epicanthus, Long eyebrows, Bilateral ptosis, Low posterior hairline, Sparse hair, Dow...	OMIM:613224
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Agel Amyloidosis	Cataract, Bilateral ptosis, Keratoconjunctivitis sicca, Blepharochalasis, Nail dystrophy, Sparse ...	ORPHA:85448
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Noonan Syndrome 4	Curly hair, Epicanthus, Sparse eyebrow, Cryptorchidism, Bilateral ptosis, Blue irides, Hypertroph...	OMIM:610733
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Upslanted palpeb...	ORPHA:163654
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cataract, Chronic active hepatitis, Alopecia, Iridocyclitis, Chronic mucocuta...	OMIM:240300
Noonan Syndrome 5	Curly hair, Epicanthus, Sparse eyebrow, Cryptorchidism, Fine hair, Small nail, Pulmonic stenosis,...	OMIM:611553
Microphthalmia, Syndromic 13	Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis	OMIM:300915
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran...	ORPHA:40923
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C...	OMIM:603165
2Q24 Microdeletion Syndrome	Cataract, Camptodactyly of finger, Abnormality iris morphology, Coloboma, Microphthalmia, Downsla...	ORPHA:1617
Erythrokeratodermia Variabilis	Alopecia, Cataract, Skin rash, Corneal opacity, Abnormal hair morphology, Abnormality of the nail...	ORPHA:317
Tenorio Syndrome	Telecanthus, Recurrent pneumonia, Keratoconjunctivitis sicca, Recurrent aphthous stomatitis, Thic...	OMIM:616260
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye...	OMIM:167730
Rodrigues Blindness	Sclerocornea, Fine hair, Microcornea, Sparse hair, Microphthalmia	OMIM:268320
Leopard Syndrome 3	Palpebral thickening, Curly hair, Downslanted palpebral fissures, Low posterior hairline	OMIM:613707
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Band keratopathy, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepat...	OMIM:269200
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Pustule, Corneal ...	ORPHA:37
Braddock-Carey Syndrome 1	Curly hair, Telecanthus, Camptodactyly, Sparse hair, Enamel hypoplasia, Downslanted palpebral fis...	OMIM:619980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair	OMIM:610476
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Galactosialidosis	Cherry red spot of the macula, Corneal opacity	ORPHA:351
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Trichiasis, Highly arched eyebrow, Epiblepharon, Corneal scarring, Bupht...	OMIM:618460
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Warburg Micro Syndrome 1	Cryptorchidism, Optic atrophy, Hypertrichosis, Developmental cataract, Microcornea, Facial hypert...	OMIM:600118
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Knee flexion contracture, Upslanted palpebral fissure, Astigmatism, Camptodactyly, Long...	OMIM:619694
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Noonan Syndrome 8	Curly hair, Epicanthus, Cryptorchidism, Mitral regurgitation, Pulmonic stenosis, Left ventricular...	OMIM:615355
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fragile nails, Fine hair	ORPHA:500166
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails	OMIM:242150
Neurotrophic Keratopathy	Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion...	ORPHA:137596
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, Micr...	ORPHA:33364
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Epicanthus, Sparse eyebrow, Synophrys, Sparse hair, Downslanted palpebral fissures	OMIM:620075
Oculomaxillofacial Dysostosis	Corneal opacity, Camptodactyly of finger, Abnormal eyelid morphology, Abnormal eyelash morphology...	ORPHA:1794
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corne...	OMIM:278730
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Synophrys, Low anterior hairline, Buphthalmos, Keratoconjunctivitis s...	OMIM:618479
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism, Cataract, Chorioretinal coloboma	OMIM:274205
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow, Downslanted palpebral fissures	OMIM:617392
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia...	OMIM:106260
Recon Progeroid Syndrome	Hyperconvex thumb nails, Red eye, Absent lower eyelashes, Keratoconjunctivitis sicca, Hirsutism	OMIM:620370
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cataract, Highly arched eyebrow, Ptosis	OMIM:616154
Distal Duplication 6P	Abnormal hair quantity, Cataract, Abnormal eyelash morphology, Fine hair, Hernia, Blepharophimosi...	ORPHA:1745
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Mucous Membrane Pemphigoid	Atypical scarring of skin, Corneal opacity	ORPHA:46486
Pierpont Syndrome	Telecanthus, Cryptorchidism, Abnormal subcutaneous fat tissue distribution, Microcornea, Narrow p...	ORPHA:487825
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Camptodactyly of finger, Acute rhabdomyolysis, Microcornea, Long eyelashes, Microphthalmia	ORPHA:48431
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Allergic rhinitis, Absent facial hair, Abnormalit...	ORPHA:90368
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Epicanthus, Cataract, Pericallosal lipoma, Widow's peak, Pectoral muscl...	OMIM:136760
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Bartsocas-Papas Syndrome	Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Sp...	ORPHA:1234
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Noonan Syndrome 10	Curly hair, Epicanthus, Prominent corneal nerve fibers, Sparse eyebrow, Cryptorchidism, Hypertrop...	OMIM:616564
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Noonan Syndrome 7	Curly hair, Epicanthus, Low posterior hairline, Pulmonic stenosis, Palpebral thickening, Hypertro...	OMIM:613706
Waardenburg Syndrome, Type 2F	Telecanthus, White hair, Blue irides, Premature graying of hair, White forelock, Heterochromia ir...	OMIM:619947
Lymphedema-Distichiasis Syndrome	Ectropion, Yellow nails, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Cellulitis, Mi...	OMIM:153400
Chops Syndrome	Curly hair, Cataract, Thick hair, Cryptorchidism, Synophrys, Optic atrophy, Coarse hair, Long eye...	OMIM:616368
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Jo...	OMIM:615704
Hurler-Scheie Syndrome	Rhinitis, Corneal opacity, Generalized hirsutism, Hernia	ORPHA:93476
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Epicanthus, Telecanthus, Thick eyebrow, Highly arched eyebrow, Low posterior hairline...	OMIM:617360
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Sparse eyebrow, Synophrys, Low anteri...	ORPHA:495875
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair, Juvenile cataract	OMIM:618625
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Oculodentodigital Dysplasia	Curly hair, Epicanthus, Brittle hair, Slow-growing hair, Cataract, Abnormal fingernail morphology...	ORPHA:2710
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Frontofacionasal Dysplasia	Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li...	ORPHA:1791
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p...	ORPHA:47
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Scarring, Scarring alopecia of scalp, Loss of eyelashes, Ker...	ORPHA:95159
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, Pneumonia, Congenital abnormal hair pattern, Atrichia, Nail ...	ORPHA:1867
Naxos Disease	Prolonged QRS complex, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebrow, Dilated ca...	OMIM:601214
Trichothiodystrophy 6, Nonphotosensitive	Microcornea, Tiger tail banding, Brittle hair, Slow-growing hair	OMIM:616943
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Smith-Kingsmore Syndrome	Curly hair, Diastasis recti, Cryptorchidism, Umbilical hernia, Downslanted palpebral fissures	OMIM:616638
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Epicanthus, Cataract, Inguinal hernia, Umbilical hernia, Ptosis	ORPHA:1373
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Heterochromia iridis, Hypopigmentation of the fundus	OMIM:103500
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Inguinal hernia, Fine hair	ORPHA:1174
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Juvenile cataract, Sparse hair	ORPHA:1264
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Carvajal Syndrome	Woolly hair	ORPHA:65282
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Mixed Connective Tissue Disease	Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Myocarditis, Arthritis, Keratoconjunctivi...	ORPHA:809
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract, Bilateral ptosis, Limb-girdle muscle weakness, Optic atrophy, Viral infection-induced r...	ORPHA:329314
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal...	OMIM:152950
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cryptorchidism, Epicanthus, Cataract, Chorioretinal coloboma	ORPHA:2489
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Almond-shaped palpebral fissure, Curly hair, Epicanthus, Short palpebral fissure	OMIM:300986
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Curly hair, Sparse scalp hair, Epicanthus, Inguinal hernia, Cryptorchidism,...	OMIM:607721
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Pierpont Syndrome	Telecanthus, Cryptorchidism, Unilateral narrow palpebral fissure, Microcornea, Narrow palpebral f...	OMIM:602342
Hypomelanosis Of Ito	Epicanthus, Alopecia, Cataract, Iris coloboma	OMIM:300337
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Lymphedema-Distichiasis Syndrome	Cataract, Recurrent skin infections, Ectropion, Corneal erosion, Tubulointerstitial nephritis, Co...	ORPHA:33001
Short Syndrome	Telecanthus, Alopecia, Corneal opacity, Abnormal dental enamel morphology, Inguinal hernia, Lipod...	ORPHA:3163
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,...	ORPHA:2228
Lichen Planus Pemphigoides	Conjunctivitis, Abnormality of the nail, Blepharitis	ORPHA:254478
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Hereditary Acrokeratotic Poikiloderma	Eczema, Camptodactyly of finger, Pustule, Keratoconjunctivitis, Nail dystrophy, Opacification of ...	ORPHA:2907
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Cat-Eye Syndrome	Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse ha...	ORPHA:2095
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Retinal detachment, Poliosis, Abnormal ...	ORPHA:3437
Noonan Syndrome 14	Aortic regurgitation, Curly hair, Epicanthus, Scapular winging, Lacrimal duct stenosis, Sparse ey...	OMIM:619745
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of...	ORPHA:141083
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Corneal ulceration, Recurrent skin infections, Corneal scarring	OMIM:616488
Warburg Micro Syndrome 4	Decreased muscle mass, Cryptorchidism, Flexion contracture, Low anterior hairline, Optic atrophy,...	OMIM:615663
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Low anterior hairline, Coloboma, Microphthalmia	OMIM:613153
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Facial...	ORPHA:85194
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	ORPHA:1021
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Optic atrophy, Developmental cataract, Narrow palpebral fissure,...	OMIM:614219
Olmsted Syndrome 1	Subungual hyperkeratosis, Corneal opacity, Flexion contracture, Nail dystrophy, Opacification of ...	OMIM:614594
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Epicanthus, Abnormal dental enamel morphology, Fine hair, Blepharophimosis, Ptosis	ORPHA:3236
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Epicanthus, Brittle hair, Lipoatrophy, Abnormal hair morphol...	ORPHA:2963
Cardiofaciocutaneous Syndrome 3	Curly hair	OMIM:615279
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Oculocerebrocutaneous Syndrome	Alopecia, Anophthalmia, Orbital cyst, Eyelid coloboma, Microphthalmia	OMIM:164180
Poikiloderma With Neutropenia	Skin rash, Sparse eyebrow, Recurrent pneumonia, Nasolacrimal duct obstruction, Low posterior hair...	OMIM:604173
Baralle-Macken Syndrome	Upslanted palpebral fissure, Cataract, Hirsutism	OMIM:619255
Trichohepatoneurodevelopmental Syndrome	Curly hair, Epicanthus, Ectropion, Almond-shaped palpebral fissure, Woolly hair, Synophrys, Macro...	OMIM:618268
Loose Anagen Syndrome	Abnormal hair morphology, Abnormal hair whorl, Iris coloboma	ORPHA:168
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Conjunctivitis, Recurrent sinusitis	OMIM:613493
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair	ORPHA:1839
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst...	OMIM:103285
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Alopecia, Widened atrophic scar, Inguinal hernia, Bilateral ptosis, Keratoconjunc...	ORPHA:536532
Autoinflammation With Arthritis And Dyskeratosis	Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization	OMIM:617388
Chromomycosis	Keratitis, Atypical scarring of skin, Keratoconjunctivitis sicca, Eyelid retraction, Ectropion	ORPHA:182
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Cataract, Retinal pigment epithelial mottling, Sparse hair, Microphthalmia, Downslant...	OMIM:614105
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Microphthalmia, Axi...	OMIM:619339
Vulto-Van Silfhout-De Vries Syndrome	Epicanthus, Widow's peak, Fine hair, Upslanted palpebral fissure, Horizontal eyebrow	OMIM:615828
Temtamy Syndrome	Aortic regurgitation, Highly arched eyebrow, Ectopia lentis, Lens luxation, Chorioretinal colobom...	OMIM:218340
Microphthalmia, Syndromic 8	Cryptorchidism, Microcornea, Blepharophimosis, Microphthalmia, Short palpebral fissure	OMIM:601349
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Downslanted palpebral fissures	ORPHA:457485
Craniofrontonasal Syndrome	Ridged nail, Curly hair, Telecanthus, Split nail, Congenital diaphragmatic hernia, Cryptorchidism...	OMIM:304110
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia, Sclerocornea, Ankyloblepharon	OMIM:611038
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis...	OMIM:609218
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Upslanted palpebral fissure, Alopecia, Epicanthus, Brittle hair	ORPHA:50812
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair, Downslanted palpebral fissures	ORPHA:85184
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Cataract, Congenital muscular dystrophy, Abnormality of the ovary, Ptosis	ORPHA:1875
Trichothiodystrophy 3, Photosensitive	Brittle hair, Cataract, Bilateral cryptorchidism, Developmental cataract, Microphthalmia, Tiger t...	OMIM:616395
Warburg Micro Syndrome 3	Decreased muscle mass, Cataract, Flexion contracture, Low anterior hairline, Optic atrophy, Devel...	OMIM:614222
Xfe Progeroid Syndrome	Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Hypertension, Enamel hypoplasia, At...	OMIM:610965
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Juvenile Temporal Arteritis	Conjunctivitis, Allergic rhinitis	ORPHA:26137
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Microp...	OMIM:615145
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Fl...	ORPHA:35173
Multiple Benign Circumferential Skin Creases On Limbs	Epicanthus, Inguinal hernia, Cryptorchidism, Congestive heart failure, Microcornea, Microphthalmi...	ORPHA:2505
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media	OMIM:601457
Zika Virus Disease	Maculopapular exanthema, Skin rash, Optic disc hypoplasia, Arthritis, Conjunctivitis, Lens sublux...	ORPHA:448237
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Hirsutism	OMIM:619318
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Gen...	ORPHA:2221
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair	OMIM:618546
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Limb joint contracture, Facial hypotonia, Lagophthalm...	ORPHA:404454
Weaver Syndrome	Deep-set nails, Inguinal hernia, Abnormal fingernail morphology, Thin nail, Camptodactyly of fing...	ORPHA:3447
Temtamy Syndrome	Microphthalmia, Telecanthus, Iris coloboma, Chorioretinal coloboma	ORPHA:1777
Ritscher-Schinzel Syndrome 4	Curly hair, Downslanted palpebral fissures	OMIM:619435
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Flexion contracture, Keratoconjunctivitis sicca, Thick eyebrow, Ptosis	OMIM:616007
Craniofrontonasal Dysplasia	Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe...	ORPHA:1520
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop...	OMIM:616171
Lacrimal Duct Defect	Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele	OMIM:149700
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, White forelock, Iris coloboma, Chorioretinal coloboma	OMIM:601706
Encephalocraniocutaneous Lipomatosis	Alopecia, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid coloboma, Lipoma, Limbal d...	OMIM:613001
Immunodeficiency 46	Conjunctivitis, Chronic oral candidiasis	OMIM:616740
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Epicanthus, Optic nerve hypoplasia, Hyperopic astigmatism, Fine hair, Upslanted palpebral fissure...	ORPHA:363686
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long e...	OMIM:615877
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Erythermalgia, Primary	Keratoconjunctivitis sicca	OMIM:133020
Sympathetic Ophthalmia	Papilledema, Alopecia, Cataract, Retinal detachment, Poliosis, Vitreous floaters, Vitritis, Retin...	ORPHA:79098
Rhizomelic Chondrodysplasia Punctata	Alopecia, Epicanthus, Cataract, Sparse body hair	ORPHA:177
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle ...	OMIM:609115
Corneal Dystrophy, Reis-Bucklers Type	Corneal opacity, Corneal dystrophy, Palpebral edema, Corneal erosion, Opacification of the cornea...	OMIM:608470
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Scarring, Increased connective tissue, Scarring alopecia of ...	ORPHA:79277
Morquio Syndrome C	Corneal opacity	OMIM:252300
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Conjunctivitis	OMIM:603552
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Infant Botulism	Chronic otitis media, Keratoconjunctivitis sicca, Mydriasis, Ptosis	ORPHA:178478
Dermatopathia Pigmentosa Reticularis	Abnormal conjunctiva morphology, Alopecia of scalp, Nail dystrophy	OMIM:125595
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Epicanthus, Tricuspid regurgitation, Lacrimal duct stenosis, Slow-growing hair, Highl...	OMIM:617506
Cockayne Syndrome Type 3	Dry hair, Cataract, Flexion contracture, Microcornea, Premature graying of hair, Keratoconjunctiv...	ORPHA:90324
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media	OMIM:240500
Usmani-Riazuddin Syndrome, Autosomal Recessive	Epicanthus, Conjunctival hyperemia	OMIM:619548
Noonan Syndrome 2	Curly hair, Epicanthus, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Cardiomyopathy, H...	OMIM:605275
Cerebrooculofacioskeletal Syndrome 1	Cataract, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Knee flexion contractur...	OMIM:214150
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Alopecia, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulo...	ORPHA:227990
Cerebrooculofacioskeletal Syndrome 2	Cataract, Camptodactyly of finger, Developmental cataract, Sparse hair, Microphthalmia	OMIM:610756
Sandestig-Stefanova Syndrome	Epicanthus, Laterally extended eyebrow, Highly arched eyebrow, Developmental cataract, Camptodact...	OMIM:618804
Muckle-Wells Syndrome	Conjunctival hyperemia, Conjunctivitis, Recurrent aphthous stomatitis, Maculopapular exanthema	OMIM:191900
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Upslanted palpebral fissure, High anterior hairline, Long eyelashes, Fine hair	ORPHA:231137
Multiple Sulfatase Deficiency	Coarse hair, Cataract, Corneal opacity, Thick eyebrow	ORPHA:585
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Conjunctivitis, Chronic sinusitis	OMIM:612692
Autosomal Agammaglobulinemia	Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepat...	ORPHA:33110
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Anterior synechiae of the anterior chamber,...	OMIM:269400
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Fingernail dysplasia, Iris ...	ORPHA:1259
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Premature graying of hair, White forelock, Heterochr...	OMIM:613265
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Sulfite Oxidase Deficiency, Isolated	Fine hair, Eczema, Ectopia lentis	OMIM:272300
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret...	ORPHA:179
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Alopecia, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulo...	ORPHA:227982
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Cryptorchidism, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, B...	ORPHA:494344
Baraitser-Winter Syndrome 2	Telecanthus, Highly arched eyebrow, Coloboma, Long palpebral fissure, Microphthalmia, Ptosis	OMIM:614583
Tularemia	Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Conjunctival hyperemia, Inf...	ORPHA:3392
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	OMIM:251270
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Flexion contracture of the 4...	ORPHA:2712
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis	OMIM:253260
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Sparse pubic hair, Increased circulating gonadotropin level, ...	OMIM:110100
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Concave nail, Cryptorchidism, Blue irides, Fine hair, Small nail...	OMIM:300978
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg...	ORPHA:324416
Crouzon Syndrome	Conjunctivitis, Iris coloboma, Ptosis	ORPHA:207
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Optic atrophy, Microphtha...	ORPHA:1466
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Decreased muscle mass, Cataract, Downslanted palpebral fissures	ORPHA:3433
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia	OMIM:614653
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Oculodentodigital Dysplasia, Autosomal Recessive	Telecanthus, Epicanthus, Sparse eyelashes, Cataract, Fine hair, Microcornea, Persistent pupillary...	OMIM:257850
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Oculocerebrocutaneous Syndrome	Alopecia, Corneal opacity, Abnormal fingernail morphology, Congenital diaphragmatic hernia, Eyeli...	ORPHA:1647
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Congenital diaphragmatic hernia, Highly arched eyebrow, Nail dystrophy, Microp...	OMIM:300887
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmi...	OMIM:618727
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Baraitser-Winter Syndrome 1	Epicanthus, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Chorioretinal coloboma...	OMIM:243310
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Ankle flexion contracture	OMIM:619985
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Congenital Varicella Syndrome	Atypical scarring of skin, Microphthalmia, Cataract	ORPHA:291
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Lipoatrophy, Ectopia lentis, Absence of subcutaneous fat, Ge...	OMIM:616914
Deafness, X-Linked 7	Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis	OMIM:301018
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:610023
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot...	OMIM:607594
Wilson-Turner Syndrome	Cryptorchidism, Cataract, Thick eyebrow	ORPHA:3459
Relapsing Polychondritis	Episcleritis, Pericarditis, Cataract, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Hepa...	ORPHA:728
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Facial palsy, Flexion contracture, Developmental cataract, Abnormal left ventr...	OMIM:613155
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Epicanthus, Slow-growing hair, Absent eyelashes, Optic nerve dysplasi...	OMIM:115150
Oculotrichoanal Syndrome	Anophthalmia, Abnormal hair pattern, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microp...	ORPHA:2717
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cataract, Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Congenital ...	ORPHA:280679
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Conjunctivitis, Skin rash, Uveitis	OMIM:120100
Flynn-Aird Syndrome	Rod-cone dystrophy, Alopecia, Alopecia of scalp, Cataract	OMIM:136300
Oculoauricular Syndrome	Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,...	OMIM:612109
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Cataract, Abnormal fingernail morphology, Decreased response to growth hormone stimul...	ORPHA:444077
Frontorhiny	Pericallosal lipoma, Epicanthus, Cataract, Camptodactyly of finger, Widow's peak, Microphthalmia,...	ORPHA:391474
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Pili torti, Fine hair	ORPHA:1573
Cryoglobulinemic Vasculitis	Viral hepatitis, Keratoconjunctivitis sicca, Arthritis	ORPHA:91138
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Epicanthus, Cataract, Skeletal muscle atrophy, Upslanted...	ORPHA:3242
Cockayne Syndrome Type 2	Anophthalmia, Scarring, Flexion contracture, Uveitis, Developmental cataract, Conjunctivitis, Ena...	ORPHA:90322
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S...	OMIM:229400
Bazex-Dupre-Christol Syndrome	Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Pil...	OMIM:301845
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Vaginal hernia, Cataract, Hypertrophic cardiomyopathy, Downslanted palpebral f...	ORPHA:3173
Brittle Cornea Syndrome 1	Keratoconus, Epicanthus, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Dec...	OMIM:229200
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Reynolds Syndrome	Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis	ORPHA:779
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm...	ORPHA:2273
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Slow-growing hair, Abnormal hair morphology, Upslanted palpebral fissure, Uncombable hair, Hernia...	ORPHA:3082
Microphthalmia, Isolated 6	Microcornea, Microphthalmia, Retinal fold	OMIM:613517
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Sparse hair, Blepharitis, Sparse ...	OMIM:618535
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectas...	OMIM:620157
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Epicanthus, Cataract, Narrow palpebral fissure, Astigmatism, Retinal coloboma, Horizontal eyebrow...	OMIM:618571
19Q13.11 Microdeletion Syndrome	Cataract, Supernumerary nipple, Fine hair, Microcornea, Sparse or absent eyelashes, Nail dysplasi...	ORPHA:217346
Antisynthetase Syndrome	Myocarditis, Keratoconjunctivitis sicca, Myositis, Skin rash	ORPHA:81
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Optic nerve hypoplasia, Sparse eyebrow, Reduced hair sulfur cont...	OMIM:300953
Refsum Disease	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Cataract, Heart block, Cardiomyopat...	ORPHA:773
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Telecanthus, Fine hair, Upslanted palpebral fissure, Microphthalmia	ORPHA:228390
Familial Cold Urticaria	Arthritis, Conjunctivitis	ORPHA:47045
Trisomy 13	Cataract, Anophthalmia, Abnormal eyelash morphology, Cryptorchidism, Abnormal retinal vascular mo...	ORPHA:3378
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Eczema, Coloboma, Microphthalmia, Hypertrichosis	OMIM:612379
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Telecanthus, Cataract, Hypertrichosis, Ptosis	OMIM:247410
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Abnormal dental ena...	ORPHA:2363
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cataract, Highly arched eyebrow, Synophrys, Long eyelashes, Frontal upsweep of hair	OMIM:619286
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Incontinentia Pigmenti	Ridged nail, Uveitis, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Hypoplasia of the fove...	OMIM:308300
Fanconi Anemia, Complementation Group S	Epicanthus, Low anterior hairline, Upslanted palpebral fissure, Long eyelashes, Sparse hair, Blep...	OMIM:617883
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Dry hair, Cataract, Band keratopathy, Malar rash, Developmen...	ORPHA:191
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Follicu...	OMIM:167210
Mucolipidosis Type Iii	Inguinal hernia, Acne, Corneal opacity	ORPHA:577
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Symblepharon, Pneumonia, Trich...	ORPHA:95455
Xeroderma Pigmentosum, Variant Type	Keratitis, Entropion, Conjunctivitis, Ectropion	OMIM:278750
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Autosomal Recessive Cutis Laxa Type 2A	Inguinal hernia, Corneal opacity, Thick hair, Abnormal cornea morphology, Downslanted palpebral f...	ORPHA:357058
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Cataract, Inguinal hernia, Microphthalmia, Microcornea, Sparse hair, Pulmonary arteri...	OMIM:616449
Microphthalmia With Brain And Digit Anomalies	Cataract, Retinal dystrophy, Anophthalmia, Sclerocornea, Cryptorchidism, Microcornea, Nail dyspla...	ORPHA:139471
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Alg2-Cdg	Epicanthus, Cataract, Downslanted palpebral fissures, Iris coloboma	ORPHA:79326
Fetal Hydantoin Syndrome	Ptosis, Epicanthus, Low posterior hairline, Coarse hair, Hernia, Hypoplastic fingernail	ORPHA:1912
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a...	ORPHA:575
Tangier Disease	Cicatricial ectropion, Nail dystrophy, Nail dysplasia, Opacification of the corneal stroma, Ectro...	OMIM:205400
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Entropion, Conjunctivitis, Ectropion	OMIM:278740
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Borjeson-Forssman-Lehmann Syndrome	Skeletal muscle atrophy, Cataract, Blepharophimosis, Cryptorchidism, Camptodactyly of toe, Sparse...	ORPHA:127
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Decreased response to growth hormone stimulation test, Thick eyebrow, Developmental cat...	ORPHA:436174
Juvenile Sialidosis Type 2	Inguinal hernia, Cataract, Corneal opacity, Umbilical hernia, Generalized hypertrichosis, Cherry ...	ORPHA:93399
Costello Syndrome	Keratoconus, Deep-set nails, Epicanthus, Abnormal fingernail morphology, Abnormal dental enamel m...	ORPHA:3071
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat...	ORPHA:2045
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Periodic Fever, Familial, Autosomal Dominant	Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Conjunctival hypere...	OMIM:142680
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Downslanted palpebral fissures, Tr...	OMIM:222470
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Upslanted palpebral fissure, Coarse hair, Nail dystrophy	ORPHA:75389
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Brittle hair, Sparse eyebrow, Developmental cataract, Hydrocele testis, Hypertrophic cardiomyopathy	OMIM:618810
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Abnormal hair morphology, Chorioretinal hyperpigmentation, ...	ORPHA:414
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cryptorchidism, Cataract, Ptosis	ORPHA:893
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu...	ORPHA:247691
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy, Cataract, Developmental cataract	OMIM:613076
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Cataract, Low anterior hairline	OMIM:608227
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding	OMIM:616390
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimosis, Iris coloboma	ORPHA:3374
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Atypical scarring of skin, Nail dystrophy, Cataract, Alopecia totalis	ORPHA:1366
2Q32Q33 Microdeletion Syndrome	Sparse hair, Downslanted palpebral fissures, Fine hair	ORPHA:251019
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Synophrys, Coarse hair, Umbilical hernia, Hirsutism	OMIM:252900
Brachycephaly, Trichomegaly, And Developmental Delay	Epicanthus, Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow	OMIM:617412
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Skeletal muscle atrophy	OMIM:256810
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract, Tendon xanthomatosis	OMIM:618463
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Iris hypopigmentation, Inguinal hernia, Ocul...	ORPHA:2719
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Cataract, Highly arched eyebrow, Trichiasis, Cardiac conduction abnormality, Cryptorchidism, Pilo...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Cataract, Highly arched eyebrow, Trichiasis, Cardiac conduction abnormality, Cryptorchidism, Pilo...	ORPHA:353277
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Chorioretinal dysplasia, Abnormal eyelid morphology, Abnormal optic nerve morpholog...	ORPHA:2526
Trichohepatoenteric Syndrome 2	Brittle hair, Chronic hepatitis, Colitis, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexi...	OMIM:614602
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma, Generalized hirsutism	ORPHA:1553
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Inguinal hernia, Cataract, Corneal opacity, Developmental cataract, Umbi...	ORPHA:93400
Fg Syndrome 3	Sparse hair, Joint contracture, Frontal upsweep of hair, Fine hair	OMIM:300406
Nathalie Syndrome	Abnormal EKG, Cataract, Skeletal muscle atrophy	OMIM:255990
Cronkhite-Canada Syndrome	Alopecia, Cataract, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Pat...	ORPHA:2930
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis...	ORPHA:2552
Hall-Riggs Syndrome	Epicanthus, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Coarse hair	ORPHA:2107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Cataract, Generalized limb muscle...	OMIM:615351
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Long eyebrows, Widow's peak, Optic atrophy, Long eyelashes, S-shaped palpebral fiss...	OMIM:201180
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypo...	ORPHA:2611
Proboscis Lateralis	Anophthalmia, Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormali...	ORPHA:141099
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Cataract, Sparse eyebrow, Optic atrophy, Fine hair, Sparse hair	OMIM:617988
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Bronchiectasis, Keratoconjunctivitis sicca, Abnormality of connective tissue, ...	ORPHA:79128
Hurler-Scheie Syndrome	Inguinal hernia, Corneal opacity, Camptodactyly of finger, Contracture of the distal interphalang...	OMIM:607015
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Camptodactyly of finger, Coarse hair, Joint contracture of the 5th finger, Sparse hair	ORPHA:1883
Mevalonic Aciduria	Cataract, Downslanted palpebral fissures	ORPHA:29
Netherton Syndrome	Sparse scalp hair, Skin rash, Sparse eyelashes, Eczema, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Coloboma, Shallow orbits, Microphthalmia	OMIM:617306
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Telecanthus, Optic nerve hypoplasia, Abnormal hair morphology, Bilateral microphthalmos, Eyelid c...	OMIM:607597
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Oculodentodigital Dysplasia	Epicanthus, Dry hair, Slow-growing hair, Cataract, Blepharophimosis, Uveitis, Fine hair, Microcor...	OMIM:164200
Limb-Mammary Syndrome	Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab...	ORPHA:69085
Frontonasal Dysplasia 3	Microphthalmia, Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma	OMIM:613456
8Q21.11 Microdeletion Syndrome	Epicanthus, Cataract, Iris hypopigmentation, Corneal opacity, Sclerocornea, Camptodactyly of fing...	ORPHA:284160
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation of the large intestine,...	ORPHA:29207
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Upslanted palpebral fissure, Microcornea, Hypoplastic nipples, Blepharophimosis, Micr...	OMIM:156610
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia, Alopecia, Iris coloboma	ORPHA:85284
Olmsted Syndrome, X-Linked	Posterior blepharitis, Subungual hyperkeratosis, Blepharitis, Alopecia totalis	OMIM:300918
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Lowry-Maclean Syndrome	Inguinal hernia, Corneal opacity, Congenital diaphragmatic hernia, Developmental glaucoma, Genera...	ORPHA:2409
Biotinidase Deficiency	Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis	ORPHA:79241
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Brittle hair, Lipodystrophy, Abnormality of hair texture, Coarse hair, Downslant...	OMIM:219200
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Entropion, Conjunctivitis, Ectropion	OMIM:278720
Harel-Yoon Syndrome	Upslanted palpebral fissure, Corneal opacity, Developmental cataract	OMIM:617183
Chanarin-Dorfman Syndrome	Myopathy, Alopecia, Subcapsular cataract, Ectropion	OMIM:275630
Aniridia-Absent Patella Syndrome	Inguinal hernia, Cataract, Cryptorchidism, Aniridia, Ptosis	ORPHA:1069
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Microphthalmia, Generalized hirsutism, ...	ORPHA:1915
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Corneal scarring, Atypical scarring of skin, Aplasia of the sweat gland...	ORPHA:642
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Telecanthus, Cataract, Anonychia, Generalized hirsutism	ORPHA:1563
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicanthus, Cataract, Absent eyela...	OMIM:268400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Epicanthus, Cryptorchidism, Bilateral microphthalmos, Low anterior hairline, Upslanted palpebral ...	ORPHA:369891
Netherton Syndrome	Sparse scalp hair, Brittle hair, Recurrent skin infections, Eczema, Allergic rhinitis, Brittle sc...	OMIM:256500
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Ablepharon, Corneal opacity, Camptodactyly of finger, Abnormal hair ...	ORPHA:920
Cutis Laxa, Autosomal Recessive, Type Iiib	Inguinal hernia, Cataract, Cryptorchidism, Developmental glaucoma, Flexion contracture, Elbow fle...	OMIM:614438
Chand Syndrome	Curly hair, Nail dysplasia, Ankyloblepharon	ORPHA:1401
Mucopolysaccharidosis, Type Iiib	Synophrys, Coarse hair, Hirsutism	OMIM:252920
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Epicanthus, Brittle hair, Dry hair, Upslanted palpebral fissure, Nail dystrophy	ORPHA:93947
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Corneal opacity, Optic nerve hypoplasia, Astigmatism, Small nail, Arthrogryposis mul...	OMIM:301056
Incontinentia Pigmenti	Uveitis, Abnormal toenail morphology, Infectious encephalitis, Abnormality of the nail, Alopecia,...	ORPHA:464
Neurooculocardiogenitourinary Syndrome	Epicanthus, Tricuspid regurgitation, Bilateral cryptorchidism, Coloboma, Peters anomaly, Micropht...	OMIM:618652
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Epicanthus, Cataract, Long palpebral fissure, Microphthalmia, Hypopigmentatio...	ORPHA:163649
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Abnormal ...	ORPHA:324737
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia	OMIM:620192
Rapp-Hodgkin Syndrome	Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebro...	OMIM:129400
Revesz Syndrome	Leukocoria, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Megalocornea, Ridged fingernail	OMIM:268130
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Cataract, Downslanted palpebral fissures	ORPHA:2643
Xeroderma Pigmentosum, Complementation Group A	Keratitis, Entropion, Conjunctivitis, Ectropion	OMIM:278700
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Coarse hair, Ptosis	ORPHA:1185
Peeling Skin Syndrome 1	Brittle hair, Onycholysis, Nail dystrophy, Erythroderma	OMIM:270300
Acrogeria	Lipoatrophy, Fine hair	ORPHA:2500
Manitoba Oculotrichoanal Syndrome	Omphalocele, Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Crypto...	OMIM:248450
Mucopolysaccharidosis, Type Iiic	Synophrys, Coarse hair, Hernia, Hirsutism, Hypertrichosis	OMIM:252930
Branchio-Oculo-Facial Syndrome	Cataract, Nasolacrimal duct obstruction, Premature graying of hair, Microcornea, Upslanted palpeb...	ORPHA:1297
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Cryptorchidism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	ORPHA:363741
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair	OMIM:611528
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Flexion contracture, Corneal opacity, Developmental cataract	OMIM:618815
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract, Abnormal fingernail morphology	ORPHA:2278
Linear Nevus Sebaceus Syndrome	Alopecia, Telecanthus, Adenoma sebaceum, Microphthalmia, Iris coloboma	ORPHA:2612
Autoimmune Hypoparathyroidism	Cataract, Conjunctivitis, Chronic mucocutaneous candidiasis	ORPHA:36913
Laurence-Moon Syndrome	Cryptorchidism, Epicanthus, Cataract, Iris coloboma	ORPHA:2377
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Ptosis, Cataract, Optic atrophy, Limb hypertonia	OMIM:619527
Koolen-De Vries Syndrome	Epicanthus, Cataract, Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of...	ORPHA:96169
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar muscle atro...	OMIM:612394
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Martsolf Syndrome 1	Epicanthus, Cataract, Inguinal hernia, Cardiac arrest, Cryptorchidism, Congestive heart failure, ...	OMIM:212720
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Cryptorchidism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	OMIM:601794
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Epicanthus, Downslanted palpebral fissures, Fine hair	OMIM:616817
Autoimmune Polyendocrinopathy Type 1	Alopecia, Cataract, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis, Opacificat...	ORPHA:3453
Chronic Graft Versus Host Disease	Fasciitis, Alopecia, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthritis...	ORPHA:99921
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Alopecia, Corneal opacity	OMIM:163200
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Blepharophimosis, Umbilical h...	ORPHA:3079
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Cataract, Knee flexion contracture, Coarse hair, Sparse hair	OMIM:118650
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:248340
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Camptodactyly of toe, Aniridia, Microphthalmia, Downslanted palpebral fis...	ORPHA:251038
Lissencephaly 8	Microphthalmia, Cataract, Optic atrophy, Skeletal muscle atrophy	OMIM:617255
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Abnormality iris morphology, Upslanted palpebral...	ORPHA:250999
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia...	OMIM:309000
Zimmermann-Laband Syndrome	Telecanthus, Cataract, Macroglossia, Long eyelashes, Absent fingernail, Generalized hypertrichosi...	ORPHA:3473
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ...	OMIM:267760
Alport Syndrome	Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Macular degeneration, Hy...	ORPHA:63
Neuhauser Syndrome	Iridodonesis, Epicanthus, Low anterior hairline, Hypoplasia of the iris, Megalocornea, Downslante...	OMIM:249310
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Calf muscle pseudohypertrophy, Cataract, Hypoglycosylation of alpha-dystrogly...	ORPHA:370959
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Abnormal eyelid morphol...	ORPHA:193
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Nasolacrimal duct obstruction, Nail pits, Fine hair, ...	ORPHA:978
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Epicanthus, Telecanthus, Thick hair, Flexion contracture, Long eyelashes, Conjunctivitis, Hernia,...	ORPHA:505248
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Reduced subcutaneous adipose tissue, Curly hair, Thick eyebrow, Epicanthus, Low anterior hairline...	OMIM:619950
Olmsted Syndrome 2	Cheilitis, Flexion contracture of digit, Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Gombo Syndrome	Microphthalmia	OMIM:233270
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Epicanthus, Downslanted palpebral fissures, Hernia	OMIM:602501
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Inguinal hernia, Cataract, Skeletal muscle atrophy, Shoulder flexion contracture...	OMIM:255800
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, U...	OMIM:221900
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Camptodactyly, Microp...	OMIM:614230
Adams-Oliver Syndrome 4	Hypoplastic toenails, Microphthalmia, Umbilical hernia, Toenail dysplasia	OMIM:615297
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finger, Sparse eyeb...	ORPHA:306542
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy,...	OMIM:160565
Congenital Rubella Syndrome	Cataract, Corneal opacity, Skin rash, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Macroorchidism, Enamel hypoplasia, A...	OMIM:618874
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Monosomy 18P	Alopecia, Epicanthus, Low posterior hairline, Microphthalmia, Ptosis	ORPHA:1598
Hallermann-Streiff Syndrome	Telecanthus, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, De...	ORPHA:2108
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Inflammatory abnormality of the eye	ORPHA:36412
Kahrizi Syndrome	Elbow contracture, Cataract, Iris coloboma, Knee flexion contracture	OMIM:612713
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Pterygium of nails, Premature gray...	OMIM:305000
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Phenylketonuria	Fair hair, Blue irides, Cataract	OMIM:261600
Neuroocular Syndrome	Brittle hair, Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hooded upper eyelid, Hypoplas...	OMIM:619539
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Upslanted palpebral f...	OMIM:613451
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis	OMIM:610455
Congenital Primary Aphakia	Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,...	ORPHA:83461
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Microphthalmia, Downsla...	OMIM:302960
Gomez-Lopez-Hernandez Syndrome	Alopecia, Downslanted palpebral fissures, Opacification of the corneal stroma	OMIM:601853
Giant Axonal Neuropathy	Woolly hair, Pili canaliculi	ORPHA:643
Joubert Syndrome 37	Sparse hair, Microphthalmia, Ptosis	OMIM:619185
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Upslanted palpebral fissure, Cataract, Corneal opacity, Optic nerve hypoplasia	ORPHA:496790
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Tortuosity of conjunctival vessels, Macular degeneration, Leg muscle stiffness, Ptosis	ORPHA:284289
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Microphthalmia, Short palpebra...	ORPHA:364577
2Q31.1 Microdeletion Syndrome	Epicanthus, Inguinal hernia, Camptodactyly of finger, Abnormal hair morphology, Cryptorchidism, S...	ORPHA:251014
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Blue irides, Optic nerve misrouting, Red hair, Generalized hypopi...	ORPHA:79433
Kindler Epidermolysis Bullosa	Corneal opacity, Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of f...	ORPHA:2908
Crouzon Syndrome	Keratitis, Conjunctivitis, Shallow orbits	OMIM:123500
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Warburg Micro Syndrome 2	Cataract, Cryptorchidism, Flexion contracture, Low anterior hairline, Optic atrophy, Developmenta...	OMIM:614225
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Ptosis	ORPHA:44
Cerebrofaciothoracic Dysplasia	Epicanthus, Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Hernia, Downsl...	ORPHA:1394
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Sialidosis Type 2	Umbilical hernia, Inguinal hernia, Flexion contracture, Corneal opacity	ORPHA:87876
Scalp-Ear-Nipple Syndrome	Anisocoria, Multiple lipomas, Supraventricular tachycardia, Sparse hair, Iris coloboma, Patchy al...	OMIM:181270
Jacobsen Syndrome	Epicanthus, Telecanthus, Abnormal eyelash morphology, Cryptorchidism, Flexion contracture, Optic ...	OMIM:147791
Sarcoidosis	Alopecia, Cataract, Maculopapular exanthema, Scarring, Erythema nodosum, Dacryocystitis, Enlarged...	ORPHA:797
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow	OMIM:619244
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Epicanthus, Dorsocervical fat pad, Synophrys, Low anterior hairline, Fine hair, Sparse hair, Down...	ORPHA:391408
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia, Muscular dystrophy, Microphthalmia	OMIM:615181
Kawasaki Disease	Pericarditis, Abnormality of nail color, Skin rash, Myocarditis, Hepatitis, Cheilitis, Arthritis,...	ORPHA:2331
Galloway-Mowat Syndrome 9	Almond-shaped palpebral fissure, Coarse hair, Hiatus hernia	OMIM:619603
Costello Syndrome	Deep-set nails, Curly hair, Epicanthus, Thin nail, Rhabdomyosarcoma, Concave nail, Achilles tendo...	OMIM:218040
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Lipodystrophy, Camptodactyly of finger, Sparse axillary hair, Erythema nodosum, Adi...	OMIM:256040
Chromosome 6Pter-P24 Deletion Syndrome	Telecanthus, Epicanthus, Umbilical hernia, Frontal upsweep of hair, Axenfeld anomaly, Opacificati...	OMIM:612582
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Epicanthus, Supernumerary nipple, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Joint c...	OMIM:620098
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Bilateral microphthalmos, Microcornea, Retinal coloboma, Facial hirsutis...	ORPHA:2839
Walker-Warburg Syndrome	Retinal detachment, Skeletal muscle atrophy, Cataract, Corneal opacity, Chorioretinal dysplasia, ...	ORPHA:899
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Curly hair, Telecanthus, Cataract, Cyst of the ductus choledochus, Upslanted palpebral fissure, C...	ORPHA:480880
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Geographic atrophy, Synophrys, Re...	OMIM:619260
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Telecanthus, Corneal opacity, Developmental glaucoma	ORPHA:1064
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Abnormality of the parathyroid gland, Abnormal ...	ORPHA:2969
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Cataract, Centrally nucleated skeletal...	OMIM:301075
Mucopolysaccharidosis, Type Vii	Epicanthus, Corneal opacity, Flexion contracture, Hirsutism, Coarse hair, Recurrent otitis media,...	OMIM:253220
Trisomy 17P	Skeletal muscle atrophy, Cataract, Flexion contracture, Low posterior hairline, Macroglossia, Aor...	ORPHA:261290
Transketolase Deficiency	Cataract, Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Kapur-Toriello Syndrome	Cataract, Camptodactyly of finger, Cryptorchidism, Low posterior hairline, Retinal coloboma, Micr...	OMIM:244300
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Duane Retraction Syndrome	Skeletal muscle atrophy, Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypop...	ORPHA:233
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Flexion contracture, Ankyloblepharon, Pterygium, Absent eyebrow, Alope...	OMIM:263650
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Retina...	ORPHA:2510
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Re...	ORPHA:280921
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair	OMIM:605676
Microphthalmia, Lenz Type	Cataract, Camptodactyly of finger, Cryptorchidism, Optic disc coloboma, Ankyloblepharon, Microcor...	ORPHA:568
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Synophrys, Glomerulonephritis, Fine hair	OMIM:619428
Refsum Disease, Classic	Cataract, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia, Rod-cone dy...	OMIM:266500
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the...	ORPHA:3353
Curry-Jones Syndrome	Blepharophimosis, Microphthalmia, High anterior hairline, Iris coloboma, Hirsutism	OMIM:601707
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Brittle hair, Ectopia lentis, Lens subluxation, Pancreatitis	OMIM:236200
Microphthalmia, Isolated 8	Retinal detachment, Entropion, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re...	OMIM:615113
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Abetalipoproteinemia	Keratoconjunctivitis sicca, Corneal ulceration, Ptosis	ORPHA:14
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Abnormal size of the palpebral fissures, Microcornea, Anterior synechia...	ORPHA:3214
Nevus Comedonicus Syndrome	Abnormal hair morphology, Cataract	ORPHA:64754
Ruijs-Aalfs Syndrome	Skeletal muscle atrophy, Cataract, Lipodystrophy, Posterior subcapsular cataract, Elbow flexion c...	OMIM:616200
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Decreased response to growth hormone stimulation test, Elevated circulating luteinizing...	OMIM:300845
Cockayne Syndrome Type 1	Anophthalmia, Cataract, Scarring, Foot joint contracture, Uveitis, Conjunctivitis, Enamel hypoplasia	ORPHA:90321
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Epicanthus, Curly hair, Sparse eyebrow, Flexion contrac...	OMIM:617140
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Abnormal ey...	ORPHA:1812
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th...	OMIM:614700
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Synophrys, Fine hair, Upslanted palpebral fissure, Long eyelashes, Downslanted palpebral fissures	OMIM:620250
Combined Oxidative Phosphorylation Deficiency 47	Cryptorchidism, Cataract, Ptosis	OMIM:618958
Hurler Syndrome	Inguinal hernia, Corneal opacity, Bilateral ptosis, Flexion contracture, Opacification of the cor...	OMIM:607014
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cryptorchidism, Cataract, Optic disc pallor	OMIM:613730
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Cataract, Orchitis, Retrobulbar op...	ORPHA:117
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy	ORPHA:1369
Hartsfield Syndrome	Microphthalmia, Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2117
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys	ORPHA:261272
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai...	ORPHA:1028
Koolen-De Vries Syndrome	Epicanthus, Cataract, Iris hypopigmentation, Abnormality of hair texture, Cryptorchidism, Hypotro...	OMIM:610443
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma	ORPHA:1643
Rabin-Pappas Syndrome	Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectas...	OMIM:620155
Brittle Cornea Syndrome 2	Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decrease...	OMIM:614170
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Fine hair, Nail ...	OMIM:257980
Cousin Syndrome	Low anterior hairline, Microcornea, Narrow palpebral fissure, Camptodactyly, Facial hirsutism, Bl...	OMIM:260660
Moebius Syndrome	Epicanthus, Corneal opacity, Breast aplasia, Arthrogryposis multiplex congenita, Blepharitis, Ptosis	ORPHA:570
Premature Aging Syndrome, Penttinen Type	Corneal opacity, Lipoatrophy, Corneal stromal edema, Keloids, Shallow orbits, Sparse hair, Microp...	OMIM:601812
Chromosome 17Q12 Duplication Syndrome	Facial hypotonia, Microphthalmia, Downslanted palpebral fissures, Peters anomaly	OMIM:614526
Dubowitz Syndrome	Ptosis, Epicanthus, Telecanthus, Sparse scalp hair, Inguinal hernia, Cryptorchidism, Hypoplasia o...	OMIM:223370
Trisomy 9P	Hypoplastic toenails, Abnormal pupil morphology, Fingernail dysplasia, Downslanted palpebral fiss...	ORPHA:236
Flynn-Aird Syndrome	Rod-cone dystrophy, Alopecia, Cataract, Skeletal muscle atrophy	ORPHA:2047
Hallermann-Streiff Syndrome	Sparse scalp hair, Cataract, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Microphthalmia, Op...	OMIM:234100
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Epicanthus, Inguinal hernia, Sparse eyebrow, Developmental cataract, Microcorn...	ORPHA:464738
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Woolly hair, Fragile nails, Nail dystrophy, Leukonychia	OMIM:615821
Nance-Horan Syndrome	Microcornea, Retinal detachment, Cataract, Microphthalmia	ORPHA:627
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Encephalocraniocutaneous Lipomatosis	Alopecia, Corneal opacity, Abnormal nasolacrimal system morphology, Lipodystrophy, Abnormal eyeli...	ORPHA:2396
Cln3 Disease	Cataract, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, T-wave inversion, Bradyc...	ORPHA:228346
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Alpha-Mannosidosis	Inguinal hernia, Cataract, Corneal opacity, Arthritis, Chronic otitis media	ORPHA:61
Focal Dermal Hypoplasia	Omphalocele, Alopecia, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Conge...	ORPHA:2092
Knobloch Syndrome	Retinal detachment, Epicanthus, Cataract, Ectopia lentis, Abnormal hair morphology, Abnormal vitr...	ORPHA:1571
Eec Syndrome	Entropion, Slow-growing hair, Abnormal dental enamel morphology, Sparse eyebrow, Keratitis, Corne...	ORPHA:1896
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Epicanthus, Telecanthus, Optic disc pal...	OMIM:267750
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Enlarged lacrimal glands, Thyroiditis, Abnormality of the orbital regi...	ORPHA:79078
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Ogden Syndrome	Inguinal hernia, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Fine hair	ORPHA:276432
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Telecanthus, Camptodactyly of finger, Supernumerary nipple, Microphthalmia, Iris coloboma	ORPHA:1236
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Acrofacial Dysostosis, Catania Type	Coarse hair, Downslanted palpebral fissures, Inguinal hernia, Abnormal hair pattern	ORPHA:1786
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Flexion contracture, Coloboma, Muscular dystrophy, Microphthalm...	OMIM:615249
Cogan Syndrome	Episcleritis, Keratitis, Uveitis, Scleritis, Conjunctivitis, Inflammatory abnormality of the eye	ORPHA:1467
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Periorbital dermoid cyst, Conjunctivitis, Lacrimal duct stenosis	OMIM:615560
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,...	OMIM:190350
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity, Camptodactyly of finger	ORPHA:2741
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Cataract, Low anterior hairline, Horizontal eyebrow, High anterior hairline, Thick eyebrow	OMIM:618797
Chime Syndrome	Epicanthus, Corneal opacity, Fine hair, Upslanted palpebral fissure, Retinal coloboma, Sparse hai...	ORPHA:3474
Lambert-Eaton Myasthenic Syndrome	Keratoconjunctivitis sicca, Abnormality of the orbital region	ORPHA:43393
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Arthrogryposis multiplex congenita	OMIM:616570
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Epicanthus, Cataract, Hypoplastic fingernail, Hypoplastic toenails, Low anterior hairline, Optic ...	OMIM:220500
Tangier Disease	Corneal opacity, Nail dystrophy, Ectropion	ORPHA:31150
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Microphthalmia, Cataract	ORPHA:93267
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity, Congenital diaphragmatic hernia	OMIM:166300
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Lipodystrophy, Flexion contracture, Arthritis, Panniculitis, Conj...	OMIM:617591
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth...	ORPHA:289390
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Retinal detachment, Cataract, Optic atrophy, Upslanted palpebral f...	OMIM:619833
Joubert Syndrome 14	Epicanthus, Highly arched eyebrow, Morning glory anomaly, Optic atrophy, Intracranial hemorrhage,...	OMIM:614424
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
Dentici-Novelli Neurodevelopmental Syndrome	Upslanted palpebral fissure, Cataract	OMIM:619877
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Cataract	OMIM:601811
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Coloboma	OMIM:274270
Otodental Syndrome	Cataract, Abnormal dental enamel morphology, Lens coloboma, Microcornea, Retinal coloboma, Microp...	ORPHA:2791
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Conjunctivitis, Chronic otitis media	OMIM:608710
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Cryptorchidism, Bilateral ptosis, Low anterior hairline, Upslanted palpebr...	ORPHA:404440
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lacrimal duct a...	OMIM:300952
Myotonic Dystrophy 1	Atrial flutter, Cataract, Atrial fibrillation, First degree atrioventricular block, Frontal baldi...	OMIM:160900
Mucopolysaccharidosis-Plus Syndrome	Epicanthus, Telecanthus, Congestive heart failure, Synophrys, Flexion contracture, Low anterior h...	OMIM:617303
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Macrocephaly/Autism Syndrome	Recurrent otitis media, Epicanthus, Coarse hair	OMIM:605309
Cerebellofaciodental Syndrome	Sparse eyebrow, Cataract, Fine hair	OMIM:616202
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op...	OMIM:120330
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Absent lacrimal punctum, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal denta...	ORPHA:1071
Collagenoma, Familial Cutaneous	Iris atrophy, Tricuspid regurgitation, Primary testicular failure, Atrial fibrillation, Right ven...	OMIM:115250
Vernal Keratoconjunctivitis	Scarring, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea...	ORPHA:70476
Scheie Syndrome	Corneal opacity	OMIM:607016
Shigellosis	Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Corn...	ORPHA:810
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,...	ORPHA:42775
De Sanctis-Cacchione Syndrome	Keratitis, Entropion, Conjunctivitis, Ectropion	OMIM:278800
Gm1 Gangliosidosis	Inguinal hernia, Corneal opacity, Camptodactyly of finger, Abnormal retinal vascular morphology, ...	ORPHA:354
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Cataract, Foot joint contracture, Sparse eyebrow, Cryptorchidism, Fine hair, S-s...	ORPHA:444072
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy, Cataract, Reduced systolic function	OMIM:618805
Avian Influenza	Pneumonia, Hepatitis, Conjunctivitis, Infectious encephalitis, Myelitis	ORPHA:454836
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cataract, Ragged-red muscle fibers, Limb muscle weakness, EMG: myopathic abnormalities, Cardiomyo...	OMIM:609286
Trisomy 20P	Epicanthus, Inguinal hernia, Thick hair, Highly arched eyebrow, Camptodactyly of finger, Low ante...	ORPHA:261318
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Epicanthus, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior ch...	ORPHA:2479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Knee flexi...	OMIM:619503
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Anophthalmia, C...	OMIM:610125
De Barsy Syndrome	Epicanthus, Cataract, Corneal opacity, Inguinal hernia, Lipodystrophy, Sparse hair, Umbilical her...	ORPHA:2962
Sjogren-Larsson Syndrome	Enamel hypoplasia, Astigmatism, Flexion contracture, Opacification of the corneal epithelium	OMIM:270200
Lassa Fever	Conjunctivitis	ORPHA:99824
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Downslanted palpeb...	OMIM:619135
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Epicanthus, Thick eyebrow, Fine hair	OMIM:614800
Galloway-Mowat Syndrome 1	Epicanthus, Cataract, Hiatus hernia, Optic atrophy, Hypoplasia of the iris, Opacification of the ...	OMIM:251300
2P15P16.1 Microdeletion Syndrome	Epicanthus, Telecanthus, Inguinal hernia, Optic nerve hypoplasia, Supernumerary nipple, Camptodac...	ORPHA:261349
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Inguinal hernia, Abnormality of hair texture, Developmental cataract, Esophagitis, Umbilical hernia	ORPHA:79351
Wagro Syndrome	Cataract, Corneal opacity, Aniridia, Downslanted palpebral fissures, Ptosis	OMIM:612469
Pancreatic Triacylglycerol Lipase Deficiency	Keratoconjunctivitis sicca, Colitis	ORPHA:309031
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Upslanted palpebral fissure, Microphthalmia, Ocular albinism, Blepharophimosis	ORPHA:1352
Moebius Syndrome	Epicanthus, Congenital fibrosis of extraocular muscles, Facial diplegia, Abnormality of the nail,...	OMIM:157900
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Alopecia, Cataract, Portal hypertension, Aplastic/hypoplastic toenai...	ORPHA:974
Congenital Fibrinogen Deficiency	Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Abnormality of the subungual re...	ORPHA:335
Gorlin Syndrome	Epicanthus, Cataract, Telecanthus, Cryptorchidism, Iris coloboma	ORPHA:377
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle hypertrophy, Skeletal muscle atrophy, Abnormal pupil morphology	ORPHA:101082
Trisomy 18	Omphalocele, Abnormality of retinal pigmentation, Epicanthus, Cataract, Cyclopia, Camptodactyly o...	ORPHA:3380
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Superfi...	ORPHA:209956
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Corneal opacity, Scarring, Atrophic scars, Nail dystrophy, E...	ORPHA:79396
Tbck-Related Intellectual Disability Syndrome	Epicanthus, Corneal opacity, Eczema, Synophrys, Hirsutism, Upslanted palpebral fissure, Thick eye...	ORPHA:488632
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, U...	OMIM:214110
Distal Deletion 6P	Epicanthus, Corneal opacity, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anteri...	ORPHA:96125
Microphthalmia With Limb Anomalies	Anophthalmia, Unilateral cryptorchidism, Abnormal eyelash morphology, Camptodactyly of 2nd-5th fi...	OMIM:206920
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Epicanthus, Inguinal hernia, Arrhythmia	ORPHA:3191
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Epicanthus, Fine hair, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Enamel hypoplasia, Astigmatism	OMIM:619184
Hurler Syndrome	Corneal opacity, Camptodactyly of finger, Rhinitis, Hernia, Generalized hirsutism, Thick eyebrow	ORPHA:93473
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Mucopolysaccharidosis Type 1	Inguinal hernia, Sinusitis, Corneal opacity, Low anterior hairline, Hernia, Chronic otitis media,...	ORPHA:579
Plasminogen Deficiency, Type I	Nephritis, Conjunctivitis, Periodontitis	OMIM:217090
Diamond-Blackfan Anemia 21	Unilateral ptosis, Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Downslanted palpebra...	OMIM:620072
Harlequin Ichthyosis	Cataract, Sudden cardiac death, Ectropion	ORPHA:457
Ophthalmoplegia, Familial Static	Anisocoria, Ptosis	OMIM:165000
Trichinellosis	Skin rash, Central retinal artery occlusion, Anisocoria, Conjunctivitis, Conjunctival hyperemia	ORPHA:863
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Epicanthus, Cataract, Telecanthus, Telangiectasia of the skin, Cryptorchidism, Blepharophimosis, ...	ORPHA:85321
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Schimke Immunoosseous Dysplasia	Coarse hair, Astigmatism, Opacification of the corneal stroma, Fine hair	OMIM:242900
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Cataract, Morning glory anomaly, Optic atrophy, Myopat...	ORPHA:98673
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epicanthus, Inguinal hernia, Osteoarthritis, Genital hernia, Cystocele, Atypical sca...	ORPHA:285
Orofaciodigital Syndrome Type 3	Cherry red spot of the macula, Abnormality of hair texture	ORPHA:2752
Chromosome 1Q41-Q42 Deletion Syndrome	Supernumerary nipple, Congenital diaphragmatic hernia, Sparse eyebrow, Cryptorchidism, Upslanted ...	OMIM:612530
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Treacher-Collins Syndrome	Cataract, Abnormal dental enamel morphology, Absent eyelashes, Cryptorchidism, Abnormal hair morp...	ORPHA:861
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Cryptorchidism, Synophrys, Low anterior hairline, Upslanted palpebral fissure, Microc...	OMIM:616734
Arboleda-Tham Syndrome	Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Upper eyelid edema, Astigmatism, Recur...	OMIM:616268
Paroxysmal Hemicrania	Conjunctival hyperemia, Rhinitis, Palpebral edema, Ptosis	ORPHA:157835
Chromosome 13Q14 Deletion Syndrome	Epicanthus, Inguinal hernia, Supernumerary nipple, Cryptorchidism, Retinoblastoma, Chorioretinal ...	OMIM:613884
Stiff Skin Syndrome	Cataract, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly	OMIM:184900
Stevens-Johnson Syndrome	Corneal erosion, Entropion, Conjunctivitis, Pancreatitis	ORPHA:36426
Premature Ovarian Failure 12	Microphthalmia, Macular dystrophy	OMIM:616947
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair, Posterior Y-sutural cataract	ORPHA:50814
Marshall Syndrome	Retinal detachment, Cataract, Sparse eyelashes, Ectopia lentis, Sparse eyebrow, Abnormal vitreous...	ORPHA:560
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Braddock-Carey Syndrome 2	Microphthalmia, Downslanted palpebral fissures	OMIM:619981
Sialidosis Type 1	Cherry red spot of the macula, Cataract, Corneal opacity, Hernia	ORPHA:812
Isolated Atp Synthase Deficiency	Cataract, Dilated cardiomyopathy, Optic atrophy, Arrhythmia, Hypertrophic cardiomyopathy, Rod-con...	ORPHA:254913
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Hypoplastic toenails, Eyelid coloboma, Chorioretinal coloboma, M...	ORPHA:268249
Nail-Patella Syndrome	Keratoconus, Ridged nail, Lester's sign, Cataract, Biceps aplasia, Concave nail, Absence of pecto...	OMIM:161200
Acro-Renal-Ocular Syndrome	Epicanthus, Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Choriore...	ORPHA:959
Donnai-Barrow Syndrome	Omphalocele, Retinal detachment, Diaphragmatic eventration, Cataract, Retinal dystrophy, Congenit...	OMIM:222448
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Decreased muscle mass, Lipodystrophy, Thick hair, Subretinal pigment epithelium ...	ORPHA:357074
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalangeal joint c...	OMIM:259600
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Developmental cataract, Supravalvar pulmonar...	OMIM:620185
Toxic Epidermal Necrolysis	Corneal erosion, Entropion, Conjunctivitis, Pancreatitis	ORPHA:537
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cataract, Cryptorchidism, Shallow orbits, Long eyelashes, Absent axillary hair, Megalocornea, Dow...	OMIM:601353
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Conjunctival hyperemia, Highly arched eyebrow	OMIM:619121
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Mosaic Trisomy 1	Omphalocele, Hypoplastic thumbnail, Congenital diaphragmatic hernia, Camptodactyly of finger, Elb...	ORPHA:1692
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Cataract, Absent eyelashes, Flexion contracture, Breast ap...	ORPHA:90153
Cardiofaciocutaneous Syndrome	Epicanthus, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Low posterior hairline,...	ORPHA:1340
Lateral Meningocele Syndrome	Telecanthus, Inguinal hernia, Keloids, Coarse hair, Umbilical hernia, Downslanted palpebral fissu...	OMIM:130720
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Epicanthus, Low anterior hairline, Dry hair	OMIM:618569
Short Syndrome	Telecanthus, Cataract, Rieger anomaly, Inguinal hernia, Lipodystrophy, Lipoatrophy, Absence of su...	OMIM:269880
Scalp-Ear-Nipple Syndrome	Telecanthus, Cataract, Palpebral edema, Abnormal fingernail morphology, Hypertension, Eyelid colo...	ORPHA:2036
Zellweger Syndrome	Epicanthus, Cataract, Corneal opacity, Brushfield spots, Upslanted palpebral fissure, Posterior e...	ORPHA:912
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Pustule, Cheilitis, Eosinophilic dermal infiltratio...	ORPHA:293173
Teebi-Shaltout Syndrome	Telecanthus, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Camptodactyly, Spar...	OMIM:272950
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Cataract, Conjunctivitis	ORPHA:94089
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Down Syndrome	Epicanthus, Cataract, Upslanted palpebral fissure, Macroglossia, Sparse hair, Umbilical hernia	ORPHA:870
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Sparse hair	OMIM:619869
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Cataract, Cryptorchidism, Synophrys, Lacrimal duct atresia, Coloboma, Microphtha...	OMIM:603457
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Congenital diaph...	ORPHA:2556
Autosomal Recessive Faciodigitogenital Syndrome	Telecanthus, Dry hair, Hypopigmentation of hair, Widow's peak, Upslanted palpebral fissure, Coars...	ORPHA:1974
Duane-Radial Ray Syndrome	Epicanthus, Cataract, Optic disc hypoplasia, Facial palsy, Small thenar eminence, Pectoralis hypo...	OMIM:607323
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Sparse eyelashes, Eczema, Absent nipple, Concave nail, Absent eyela...	OMIM:305100
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Abnormal dental enamel morpholog...	ORPHA:79430
Nocardiosis	Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Dacryocystitis, Peritonitis, Th...	ORPHA:31204
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Cataract, Hand muscle weakness, Developmental glaucoma, ...	ORPHA:99956
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Microphthalmia, Short palpebra...	OMIM:608670
Classic Phenylketonuria	Hypopigmentation of hair, Cataract	ORPHA:79254
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Werner Syndrome	Sparse scalp hair, Abnormality of retinal pigmentation, Cataract, Lipodystrophy, Lipoatrophy, Myo...	ORPHA:902
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Tyrosinemia Type 2	Corneal opacity, Abnormality of the nail	ORPHA:28378
Cranioectodermal Dysplasia 3	Telecanthus, Short nail, Broad nail, Fine hair, Sparse hair	OMIM:614099
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
3Q29 Microdeletion Syndrome	Microphthalmia, Pulmonary arterial hypertension, Cataract, Downslanted palpebral fissures	ORPHA:65286
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar...	OMIM:608612
Mucopolysaccharidosis Type 3	Inguinal hernia, Cataract, Corneal opacity, Thick hair, Synophrys, Flexion contracture, Coarse ha...	ORPHA:581
Wolfram Syndrome 1	Cataract, Optic atrophy, Cardiomyopathy, Pigmentary retinopathy, Testicular atrophy, Ptosis	OMIM:222300
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Symblepharon, Recurrent loss of toenails and fingernails, Nail dystrophy, Enamel hypoplasia, Corn...	OMIM:245660
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Peritonitis, Uveitis, Arthritis, Conjunct...	ORPHA:32960
Renpenning Syndrome 1	Epicanthus, Brittle hair, Telecanthus, Cataract, Upslanted palpebral fissure, Coloboma, Camptodac...	OMIM:309500
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Curly hair, Epicanthus, Transient ischemic attack, Optic nerve hypoplasia, Sp...	ORPHA:500150
Monosomy 13Q14	Epicanthus, Cataract, Microphthalmia, Retinoblastoma, Iris coloboma, Ptosis	ORPHA:1587
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cataract, Portal hypertension, Blepharophimosis, Cryptorchidism, Absence of subcutaneous fat, Spa...	OMIM:620005
Stevenson-Carey Syndrome	Coloboma, Camptodactyly, Microphthalmia, Joint contracture of the hand, Downslanted palpebral fis...	OMIM:611961
1Q21.1 Microdeletion Syndrome	Epicanthus, Cataract, Inguinal hernia, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:250989
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media	OMIM:601495
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab...	ORPHA:2968
Monosomy 9Q22.3	Epicanthus, Ovarian fibroma, Cataract, Rhabdomyosarcoma, Microphthalmia, Retinopathy, Umbilical h...	ORPHA:77301
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Cataract, Entropion, Keratitis, Ankyloblepharon, Opacifica...	ORPHA:910
Ohdo Syndrome, X-Linked	Epicanthus, Inguinal hernia, Hiatus hernia, Sparse eyebrow, Cryptorchidism, Blepharophimosis, Mic...	OMIM:300895
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Myopathy, Peters anomaly, Retinal va...	OMIM:243605
Fucosidosis	Lipoatrophy, Corneal opacity, Abnormality of the nail	ORPHA:349
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ...	OMIM:300755
Biemond Syndrome Type 2	Microphthalmia, Coloboma	ORPHA:141333
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia...	ORPHA:2714
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Inguinal hernia, Lens coloboma, Small thenar eminence, Joint contracture of the 4th finger, Joint...	OMIM:618914
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta...	OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Myoclonic-Astatic Epilepsy	Microphthalmia, Frontal balding	ORPHA:1942
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Premature graying of hair, Lacrimal ...	OMIM:613266
Intermediate Uveitis	Anterior uveitis, Cataract, Vitreous haze, Macular scar, Band keratopathy, Epiretinal membrane, V...	ORPHA:279914
Dubowitz Syndrome	Ptosis, Epicanthus, Telecanthus, Cataract, Eczema, Sparse scalp hair, Abnormal fingernail morphol...	ORPHA:235
Holoprosencephaly	Omphalocele, Epicanthus, Anophthalmia, Retinopathy, Cyclopia, Highly arched eyebrow, Congenital d...	ORPHA:2162
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma	OMIM:256540
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Epicanthus, Cataract, Type 2 muscle fiber predominance, Arrhythmia, Hype...	OMIM:615471
Myhre Syndrome	Cataract, Blepharophimosis, Cryptorchidism, Generalized muscle hypertrophy, Fine hair, Skeletal m...	OMIM:139210
Ring Chromosome 10 Syndrome	Microphthalmia, Downslanted palpebral fissures	ORPHA:1438
Mucopolysaccharidosis, Type Iiid	Thick eyebrow, Inguinal hernia, Synophrys, Achilles tendon contracture, Elbow flexion contracture...	OMIM:252940
Cenani-Lenz Syndrome	Ptosis, Cataract, Abnormal dental enamel morphology, Absent toenail, Absent fingernail, Downslant...	ORPHA:3258
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Oculoectodermal Syndrome	Epicanthus, Supernumerary nipple, Microcornea, Eyelid coloboma, Astigmatism, Opacification of the...	OMIM:600268
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea	ORPHA:77298
Cat Eye Syndrome	Epicanthus, Chorioretinal coloboma, Pulmonic stenosis, Microphthalmia, Umbilical hernia, Downslan...	OMIM:115470
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Marden-Walker Syndrome	Epicanthus, Inguinal hernia, Decreased muscle mass, Cryptorchidism, Congenital contracture, Campt...	OMIM:248700
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Vaginal hydrocele, Developmental...	ORPHA:2119
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Microphthalmia, Iris...	ORPHA:3301
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Inguinal hernia, Cataract, Supernumerary nipple, Attenuation of retinal blood vessels	OMIM:614376
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Blepharitis, Developmental cataract	OMIM:616834
Hajdu-Cheney Syndrome	Telecanthus, Cataract, Abnormal fingernail morphology, Inguinal hernia, Mitral stenosis, Synophry...	ORPHA:955
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Epicanthus, Brittle hair, Palpebral edema, Inguinal hernia, Diastasis recti...	OMIM:252500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia, Muscular dystrophy	OMIM:614830
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Anophthalmia, Congenital diaphragmatic hernia	OMIM:615524
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Keratitis, Arthritis, Inflammation of the large intestine, Conjunctivitis, Oti...	ORPHA:906
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Abnormal retinal morphology, Bilateral microphthalmos, Elbow flexion con...	OMIM:610758
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Achilles tendon contracture, Optic atrophy, Distal amyotrophy, Rod-cone dystrophy, Subc...	OMIM:612674
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia, Cryptophthalmos, Ankyloblepharon	OMIM:123570
Aicardi Syndrome	Retinal detachment, Cataract, Hiatus hernia, Chorioretinal lacunae, Optic disc coloboma, Optic at...	OMIM:304050
Mosaic Trisomy 9	Corneal opacity, Camptodactyly of finger, Upslanted palpebral fissure, Small nail, Microphthalmia	ORPHA:99776
Craniolenticulosutural Dysplasia	Brittle hair, Punctate cataract, Coarse hair, Posterior Y-sutural cataract, Sparse hair	OMIM:607812
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Weaver Syndrome	Deep-set nails, Epicanthus, Inguinal hernia, Thin nail, Fine hair, Camptodactyly, Sparse hair, Um...	OMIM:277590
Axenfeld-Rieger Syndrome, Type 2	Telecanthus, Inguinal hernia, Microcornea, Opacification of the corneal stroma, Umbilical hernia,...	OMIM:601499
Sunct Syndrome	Conjunctival hyperemia, Palpebral edema, Ptosis	ORPHA:57145
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Anisocoria, ...	ORPHA:45358
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Cryptorch...	OMIM:236670
Alagille Syndrome	Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Cryptorchidism, Abnormal pupil morpho...	ORPHA:52
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, High anterior hairline, Orthostatic hypotension, Ptosis	OMIM:615510
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Narrow palpebral fissure, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Fine...	ORPHA:2637
Neu-Laxova Syndrome	Skeletal muscle atrophy, Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morph...	ORPHA:2671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Increased variability in muscle fiber diameter, Buphthalmos, Skeletal muscle hypertroph...	OMIM:613150
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Dry hair, Abnormal hair morphology, Cryptorchidism, Optic at...	OMIM:133540
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dacryocystitis, Fine hair, Coloboma, Sparse hair, Downslanted palpebral fissures	ORPHA:251028
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture	ORPHA:88618
Farber Disease	Corneal opacity, Flexion contracture, Arthritis, Abnormal conjunctiva morphology, Opacification o...	ORPHA:333
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Epicanthus, Knee flexion contracture, Pulmonic stenosis, Blepharophimosi...	ORPHA:435638
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Cryptorchidism, Microp...	OMIM:300166
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Epicanthus, Cryptorchidism, Widow's peak, Optic atrophy, Upslanted palpebral fissure, Coloboma, S...	OMIM:616975
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Pseudohypoparathyroidism Type 1C	Enamel hypoplasia, Cataract, Conjunctivitis	ORPHA:79444
Pseudohypoparathyroidism Type 1A	Enamel hypoplasia, Cataract, Conjunctivitis, Band keratopathy	ORPHA:79443
Lacrimoauriculodentodigital Syndrome 1	Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Hypoplasia of the lacrimal punct...	OMIM:149730
Vici Syndrome	Epicanthus, Hypopigmentation of hair, Cataract, Macular atrophy, Albinism, Congestive heart failu...	OMIM:242840
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Epicanthus, Absent nipple, Aplasia of the thymus, Facial palsy, Sparse eyebrow, Microphthalmia, O...	OMIM:620186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Retinal dystrophy, Increased variability in muscle fiber diameter, Buphthalmos, Muscula...	OMIM:616538
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Inguinal hernia, Multiple joint contractures, Corneal opacity, Optic nerve hyp...	ORPHA:536471
Leukonychia Totalis	Abnormal eyelash morphology, Abnormal fingernail morphology, Blepharitis, Abnormal toenail morpho...	ORPHA:2387
Listeriosis	Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep...	ORPHA:533
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Aortic regurgitation, Optic nerve hypoplasia, Facial palsy, Almond-shaped palp...	ORPHA:508498
Aymé-Gripp Syndrome	Sparse scalp hair, Inguinal hernia, Cataract, Pericarditis, Congenital diaphragmatic hernia, Cryp...	ORPHA:1272
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Kniest Dysplasia	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ...	ORPHA:485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Skeletal muscle atrophy, Cataract, Dilated cardiomyopathy, Flexion contractur...	OMIM:253800
Cataract 47	Microcornea, Cataract	OMIM:612018
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Cataract, Telangiectasia of the skin, Myocardial infarction, Ischemi...	ORPHA:679
Fraser Syndrome 1	Absent eyebrow, Anophthalmia, Corneal opacity, Absent eyelashes, Bilateral microphthalmos, Extens...	OMIM:219000
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Inguinal hernia, Eczema, Low anterior hairline, Low ...	OMIM:601358
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Pulmonary arterial hypertension, Epicanthus, Chalazion	OMIM:613355
Alpha-Mannosidosis, Adult Form	Cataract, Corneal opacity, Pneumonia	ORPHA:309288
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Hematochezia, Nail dystrophy, Nail dysplasia	OMIM:175500
Neurofibromatosis Type 1	Abnormal hair quantity, Cataract, Corneal opacity, Abnormal eyelid morphology, Multiple lipomas, ...	ORPHA:636
African Trypanosomiasis	Pericarditis, Alopecia, Keratitis, Myocarditis, Optic neuritis, Conjunctivitis, Iritis, Myelitis	ORPHA:3385
Opitz-Kaveggia Syndrome	Epicanthus, Multiple joint contractures, Inguinal hernia, Fine hair, Frontal upsweep of hair, Cam...	OMIM:305450
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity, Abnormal dental enamel morphology, Aplasia/Hypoplasia affecting the...	ORPHA:2323
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure, Microspherophaki...	OMIM:608328
Monosomy 9P	Epicanthus, Thin nail, Highly arched eyebrow, Congenital diaphragmatic hernia, Cryptorchidism, Sy...	ORPHA:261112
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Cataract, Ragged-red muscle fibers, Dilated cardiomyopathy, Increased variability in muscle fiber...	ORPHA:70595
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Epicanthus, Highly arched eyebrow, Low posterior hairline, Fine hair, Sparse hair, Downslanted pa...	OMIM:613563
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Epicanthus, Dry hair, Inguinal hernia, Abnormal atrioventr...	ORPHA:576
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Fryns Syndrome	Omphalocele, Ectopic pancreatic tissue, Cryptorchidism, Narrow palpebral fissure, Joint contractu...	OMIM:229850
Mucopolysaccharidosis, Type Vi	Inguinal hernia, Corneal opacity, Pneumonia, Flexion contracture, Umbilical hernia, Hirsutism	OMIM:253200
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Epicanthus, Cataract, Facial palsy, Hypoplasia of the musculature, Lagop...	OMIM:254940
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, White hair, Ocular albinism, Iris hypopigmentation	ORPHA:2720
Branchiooculofacial Syndrome	Telecanthus, Cataract, Hypoplastic fingernail, Anophthalmia, Supernumerary nipple, Facial palsy, ...	OMIM:113620
Lcat Deficiency	Corneal opacity	ORPHA:650
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Inguinal hernia, Cataract, Corneal opacity, Abnormal dental enamel morphology,...	ORPHA:534
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Aniridia 3	Aniridia, Cataract	OMIM:617142
Fryns Syndrome	Omphalocele, Corneal opacity, Congenital diaphragmatic hernia, Microphthalmia, Hypoplastic finger...	ORPHA:2059
Dyskeratosis Congenita, Autosomal Dominant 3	Premature graying of hair, Alopecia, Nail dysplasia, Fine hair	OMIM:613990
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Larsen Syndrome	Corneal opacity, Short nail, Shallow orbits	OMIM:150250
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Cryptorchidism, Epicanthus	OMIM:618494
Scheie Syndrome	Rhinitis, Corneal opacity	ORPHA:93474
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Paronychia, Erythroderma, Blepharitis, Onychogryposis	OMIM:614328
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu...	OMIM:618223
Mend Syndrome	Telecanthus, Cataract, Cryptorchidism, Upslanted palpebral fissure, Microphthalmia, Aortic valve ...	ORPHA:401973
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Hernia, Developmental cataract	OMIM:616603
Zimmermann-Laband Syndrome 1	Thick eyebrow, Cataract, Thick hair, Highly arched eyebrow, Synophrys, Low anterior hairline, Car...	OMIM:135500
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey...	ORPHA:294023
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Low anterior hairline, Microcornea, Wrist flexion contracture, Generaliz...	ORPHA:800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Cryptorchidism, Heart murmur, Blepharophimosis, Microphthalmia, Ptosis	ORPHA:2728
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Neonatal Marfan Syndrome	Iridodonesis, Tricuspid regurgitation, Lipoatrophy, Ectopia lentis, Flexion contracture, Heart mu...	ORPHA:284979
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Spa...	OMIM:612199
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	ORPHA:2328
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cataract, Brittle hair, Ragged-red muscle fibers, Rhabdomyolysis, Hypertrophic cardiomyopathy, Ro...	OMIM:124000
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Cataract, Abnormal fingernail mo...	ORPHA:1775
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Alpha-Mannosidosis, Infantile Form	Cataract, Corneal opacity, Pneumonia, Highly arched eyebrow, Astigmatism, Otitis media, Umbilical...	ORPHA:309282
Momo Syndrome	Epicanthus, Hyperconvex nail, Bilateral microphthalmos, Eyelid coloboma, Chorioretinal coloboma, ...	ORPHA:2563
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Rhabdomyosarcoma, Muscular dystrophy...	ORPHA:1052
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Epicanthus, Telecanthus, Inguinal hernia, Highly arched eyebrow, Fine hair, Umbilical hernia, Ret...	OMIM:280000
Al-Gazali Syndrome	Wrist flexion contracture, Recurrent pneumonia, Corneal opacity, Sclerocornea	OMIM:609465
Genitopatellar Syndrome	Sparse scalp hair, Hip contracture, Knee flexion contracture, Fine hair, Arthrogryposis multiplex...	ORPHA:85201
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Inguinal hernia, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Heart m...	OMIM:618653
Miller Fisher Syndrome	Anisocoria, Facial palsy, Mydriasis, Ptosis	ORPHA:98919
Cystinosis	Corneal opacity	ORPHA:213
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Congenital diaphragmatic hernia, Sclerocornea, Junctional ectopic tachycardia, Pigmenta...	OMIM:309801
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Orthostatic hypotension, Skeletal muscle atrophy, Ptosis	OMIM:146500
Joubert Syndrome 22	Microphthalmia, Coloboma	OMIM:615665
Progeroid Short Stature With Pigmented Nevi	Lack of facial subcutaneous fat, Allergic conjunctivitis, Cataract, Allergic rhinitis	OMIM:176690
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Bilateral microphthalmos, Lower eyelid coloboma, ...	OMIM:154500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Cataract, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb m...	OMIM:157640
Holoprosencephaly 7	Omphalocele, Synophrys, Bilateral microphthalmos, Upslanted palpebral fissure, Shallow orbits, Mi...	OMIM:610828
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Tendon xanthomatosis, Xanthe...	OMIM:213700
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Epicanthus, Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Localized hypoplasi...	ORPHA:73223
Genetic Hyperferritinemia Without Iron Overload	Cataract, Fragile nails	ORPHA:254704
Mowat-Wilson Syndrome	Cataract, Supernumerary nipple, Cryptorchidism, Generalized muscle hypertrophy, Microcornea, Ecto...	OMIM:235730
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Optic disc coloboma, Opti...	ORPHA:50
Chromosome Xp11.3 Deletion Syndrome	Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ...	OMIM:300578
Isolated Ectopia Lentis	Hypertension, Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Cataract, Orbital cyst, Ovarian carcinoma, Microphthalmia, Iris coloboma	OMIM:109400
Wolf-Hirschhorn Syndrome	Epicanthus, Highly arched eyebrow, Sclerocornea, Congenital diaphragmatic hernia, High anterior h...	ORPHA:280
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Congenital Toxoplasmosis	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:858
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Periungual erythema, Dystrophic fingernails, Absent eyebrow, Alopecia, Subungual hyperk...	OMIM:308205
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, White hair, Fine hair	ORPHA:935
Mucopolysaccharidosis Type 7	Umbilical hernia, Inguinal hernia, Corneal opacity, Hepatitis	ORPHA:584
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Anophthalmia, Congenital diaphragmatic hernia, Absent fingernail, Chor...	OMIM:305600
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Cataract, Retinal atrophy, Crypto...	OMIM:216400
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Noonan Syndrome	Abnormal hair quantity, Low posterior hairline, Coarse hair, Downslanted palpebral fissures, Ptosis	ORPHA:648
Argininosuccinic Aciduria	Dry hair, Brittle hair, Trichorrhexis nodosa	OMIM:207900
Orofaciodigital Syndrome Type 1	Epicanthus, Brittle hair, Telecanthus, Alopecia, Abnormal dental enamel morphology, Coarse hair, ...	ORPHA:2750
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia, Astigmatism, Decreased response to growth hormone stimula...	OMIM:609053
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Flexion contracture, Fine hair	OMIM:618891
Classic Homocystinuria	Gastrointestinal hemorrhage, Sparse scalp hair, Retinal detachment, Cataract, Abnormality of reti...	ORPHA:394
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Mucopolysaccharidosis, Type Ivb	Inguinal hernia, Corneal opacity, Opacification of the corneal stroma, Grayish enamel	OMIM:253010
Menke-Hennekam Syndrome 1	Epicanthus, Telecanthus, Thick eyebrow, Cataract, Inguinal hernia, Blepharophimosis, Cryptorchidi...	OMIM:618332
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:610651
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Epicanthus, Cataract, Sutural cataract, Highly arched eyebrow, Frontal bald...	OMIM:612474
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Hyperautofluorescent macula...	OMIM:209900
Apolipoprotein A-I Deficiency	Xanthelasma, Opacification of the corneal stroma	ORPHA:425
Van Den Ende-Gupta Syndrome	Abnormal eyebrow morphology, Sclerocornea, Elbow flexion contracture, Knee flexion contracture, C...	OMIM:600920
Cranioectodermal Dysplasia 1	Epicanthus, Telecanthus, Slow-growing hair, Short nail, Thin nail, Inguinal hernia, Fine hair, Tu...	OMIM:218330
Werner Syndrome	Alopecia of scalp, Retinal degeneration, Cataract	OMIM:277700
Weill-Marchesani Syndrome 1	Cataract, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Mitral regurgitation, Pulm...	OMIM:277600
Orofaciodigital Syndrome I	Epicanthus, Telecanthus, Dry hair, Alopecia, Sparse hair, Enamel hypoplasia, Downslanted palpebra...	OMIM:311200
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Mucopolysaccharidosis Type 4	Corneal opacity, Abnormal dental enamel morphology, Hernia, Grayish enamel	ORPHA:582
Lathosterolosis	Epicanthus, Cataract, Microcornea, Opacification of the corneal stroma, Downslanted palpebral fis...	ORPHA:46059
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Gastritis, Inguinal hernia, Colitis, Uncombable hair, Woo...	ORPHA:84064
Smith-Lemli-Opitz Syndrome	Epicanthus, Cataract, Hypopigmentation of hair, Abnormal dental enamel morphology, Sclerocornea, ...	ORPHA:818
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Epicanthus, Cataract, Unilateral cryptorchidism, Decreased respons...	OMIM:613406
Wilson Disease	Acute hepatitis, Arthritis, Hepatitis, Kayser-Fleischer ring	ORPHA:905
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation...	ORPHA:137675
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Yunis-Varon Syndrome	Sparse scalp hair, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Cryptorchidism, Bila...	ORPHA:3472
Menkes Disease	Hypopigmentation of hair, Osteomyelitis, Inguinal hernia, Atypical scarring of skin, Umbilical he...	ORPHA:565
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy	OMIM:614748
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Pancreatitis, Minimal change glomerulonephritis	ORPHA:1830
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity	ORPHA:1764
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Anophthalmia, Cataract, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:2250
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Corneal opacity, Eczema, Astigmatism, Breast hypoplasia	ORPHA:464306
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhag...	OMIM:175780
Occipital Horn Syndrome	Inguinal hernia, Femoral hernia, Thick hair, Scarring, Hiatus hernia, Hepatitis, Atypical scarrin...	ORPHA:198
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Cataract, Bilateral cryptorchidism, Synophrys, Flexion contracture, Myopathy, An...	ORPHA:3042
Galloway-Mowat Syndrome 3	Epicanthus, Hiatus hernia, Hypertension, Camptodactyly, Microphthalmia, Downslanted palpebral fis...	OMIM:617729
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Lacrimal duct stenosis, Sparse axillary hair, Sparse eyebrow...	OMIM:604292
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Anophthalmia, Anterior pituitary hypoplasia, Sclerocornea, Optic n...	OMIM:206900
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Cohen-Gibson Syndrome	Epicanthus, Cataract, Thin nail, Cryptorchidism, Flexion contracture, Small nail, Camptodactyly, ...	OMIM:617561
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Ankle flexion contracture, Elbow flexion contracture, Knee flexion con...	OMIM:268300
Multiple Sulfatase Deficiency	Corneal opacity	OMIM:272200
Fanconi Anemia	Epicanthus, Cataract, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Cryptorchidism...	ORPHA:84
Fontaine Progeroid Syndrome	Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hairline, Coarse hair, Tric...	OMIM:612289
Marshall-Smith Syndrome	Omphalocele, Brittle hair, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Aspiration p...	OMIM:602535
Carpenter Syndrome 1	Omphalocele, Epicanthus, Telecanthus, Microcornea, Opacification of the corneal stroma, Camptodac...	OMIM:201000
Fraser Syndrome 2	Microphthalmia, Low anterior hairline, Cryptophthalmos	OMIM:617666
Roberts Syndrome	Cataract, Progressive flexion contractures, Cryptorchidism, Knee flexion contracture, Sparse hair...	ORPHA:3103
Stuve-Wiedemann Syndrome 1	Elbow flexion contracture, Knee flexion contracture, Opacification of the corneal stroma, Camptod...	OMIM:601559
Chromosome 13Q33-Q34 Deletion Syndrome	Epicanthus, Cryptorchidism, Small thenar eminence, Pulmonic stenosis, Camptodactyly, Left ventric...	OMIM:619148
Neu-Laxova Syndrome 1	Ablepharon, Cataract, Absent eyelashes, Cryptorchidism, Yellow subcutaneous tissue covered by thi...	OMIM:256520
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Corneal opacity, Alopecia totalis, Nocturnal lagophthalmos, Osteoarthritis, Loss ...	ORPHA:740
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair	OMIM:616084
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Telecanthus, Inguinal hernia, Sparse eyelashes, Sparse axillary hair, Sparse e...	OMIM:129900
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Cataract, Entropion, Bilateral cryptorchidi...	OMIM:617403
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Hypoplasia of the thymus, Hypoparathyroidism, Abnormal dental enamel ...	ORPHA:567
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Charcot-Marie-Tooth Disease Type 1E	Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Peroneal muscle atro...	ORPHA:90658
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Mednik Syndrome	Upslanted palpebral fissure, Cataract	OMIM:609313
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Nai...	ORPHA:85436
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Inguinal hernia	ORPHA:1135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Conjunctival hyperemia	ORPHA:240071
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Abnormal pupil morphology, Arrhythmia	ORPHA:2151
Myhre Syndrome	Inguinal hernia, Cataract, Femoral hernia, Cryptorchidism, Skeletal muscle hypertrophy, Hypertens...	ORPHA:2588
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Sparse scalp hair, Cataract, Corneal opacity, Recurrent skin...	ORPHA:3455
Coffin-Siris Syndrome 1	Sparse scalp hair, Dry hair, Inguinal hernia, Congenital diaphragmatic hernia, Hypoplastic fifth ...	OMIM:135900
Charge Syndrome	Epicanthus, Anophthalmia, Facial palsy, Highly arched eyebrow, Cryptorchidism, Optic atrophy, Eye...	ORPHA:138
Vacterl With Hydrocephalus	Inguinal hernia, Anophthalmia, Femoral hernia, Cryptorchidism, Microcornea, Abnormal optic nerve ...	ORPHA:3412
Pseudotrisomy 13 Syndrome	Omphalocele, Cryptorchidism, Upslanted palpebral fissure, Microphthalmia, Cyclopia	OMIM:264480
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Epicanthus, Superficial dermal perivascular inflammatory infiltrate, Inguinal hernia, Eczema, Seb...	ORPHA:83617
Peroxisome Biogenesis Disorder 5A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Brushfield spots, Hypoplastic nipples, Opacification of th...	OMIM:614866
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Epicanthus, Inguinal hernia, Torticollis, Cryptorchidism, Antecubital pterygium, Knee flexion con...	OMIM:609945
Mosaic Trisomy 8	Arthrogryposis multiplex congenita, Corneal opacity, Camptodactyly of finger	ORPHA:96061
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Crimean-Congo Hemorrhagic Fever	Acute pancreatitis, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Conjunctivitis, Cholec...	ORPHA:99827
Distal Deletion 12Q	Late onset atopic dermatitis, Telecanthus, Elbow flexion contracture, Fine hair, Small nail, Down...	ORPHA:96149
Coffin-Lowry Syndrome	Telecanthus, Inguinal hernia, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Uterin...	OMIM:303600
Adrenomyeloneuropathy	Frontal balding, Fine hair	ORPHA:139399
Vascular Ehlers-Danlos Syndrome	Abnormal pupil morphology, Internal hemorrhage, Keratoconus, Alopecia, Abnormal eyelash morpholog...	ORPHA:286
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Sparse eyebrow, Cryptorchidism, Microphthalmia, Omphalocele	OMIM:616300
Meckel Syndrome	Cataract, Pancreatic fibrosis, Abnormal chorioretinal morphology, Sclerocornea, Anophthalmia, Pan...	ORPHA:564
Solitary Median Maxillary Central Incisor	Microphthalmia, Coloboma, Cyclopia, Anophthalmia	OMIM:147250
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Camptodactyly of finger	ORPHA:2547
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis...	OMIM:606721
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Flexion contracture, Optic nerve hypoplasia	OMIM:614833
Microphthalmia With Limb Anomalies	Abnormal eyebrow morphology, Cryptorchidism, Optic atrophy, Camptodactyly of 2nd-5th fingers, Ble...	ORPHA:1106
Marfan Syndrome	Reduced subcutaneous adipose tissue, Aortic regurgitation, Retinal detachment, Cataract, Tricuspi...	OMIM:154700
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Epicanthus, Cataract, Inguinal hernia, Macroglossia, Astigmatism, Retinal coloboma, Camptodactyly...	ORPHA:500095
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Arthritis	ORPHA:324
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin...	OMIM:259770
Mucopolysaccharidosis Type 6	Chronic otitis media, Hernia, Sinusitis, Opacification of the corneal stroma	ORPHA:583
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Pseudo-Torch Syndrome 1	Umbilical hernia, Cataract, Opacification of the corneal stroma	OMIM:251290
Microcephaly-Micromelia Syndrome	Microphthalmia, Short palpebral fissure	OMIM:251230
Autosomal Recessive Malignant Osteopetrosis	Chronic rhinitis, Otitis media, Abnormality of hair texture	ORPHA:667
Congenital Disorder Of Deglycosylation 1	Corneal ulceration, Corneal opacity, Ptosis	OMIM:615273
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Papilledema, Developmental cataract, Retinal calcification, Microphthalmia	OMIM:127000
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Elsahy-Waters Syndrome	Cataract, Bilateral cryptorchidism, Synophrys, Phthisis bulbi, Increased cup-to-disc ratio, Megal...	OMIM:211380
Lysinuric Protein Intolerance	Sparse hair, Pancreatitis, Fine hair	OMIM:222700
Proteus Syndrome	Central heterochromia, Decreased muscle mass, Pulmonary embolism, Chorioretinal coloboma, Abnorma...	ORPHA:744
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Opacification of the corneal stroma	OMIM:313400
Ogden Syndrome	Abnormal eyelid morphology, Ventricular tachycardia, Supraventricular tachycardia, Sparse eyebrow...	OMIM:300855
Steinfeld Syndrome	Microphthalmia, Absent gallbladder, Retinal coloboma, Iris coloboma	OMIM:184705
Autosomal Recessive Cutis Laxa Type 1	Inguinal hernia, Cataract, Abnormal cardiac ventricular function, Dermatochalasis, Congestive hea...	ORPHA:90349
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Camptodactyly of finger, Band keratopathy, Tend...	OMIM:186580
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Inguinal hernia, Transient ischemic attack, Subarachnoid hemorrhage, Hypovo...	ORPHA:91387
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Pustule, Corneal perforation, Conjunctival hyperemia, Corneal ulceration, I...	ORPHA:68
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Neurooculorenal Syndrome	Cryptorchidism, Ectopic posterior pituitary, Iris atrophy, Highly arched eyebrow	OMIM:620305
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Nongran...	ORPHA:91500
Melnick-Needles Syndrome	Recurrent otitis media, Coarse hair, Omphalocele, Frontal hirsutism	OMIM:309350
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Noonan Syndrome 1	Epicanthus, Synovitis, Low posterior hairline, Woolly hair, Downslanted palpebral fissures, Ptosis	OMIM:163950
Fanconi Anemia, Complementation Group C	Microphthalmia, Cryptorchidism, Epicanthus, Flexion contracture	OMIM:227645
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Tachycardia, Diaphragmatic eventration, Hi...	OMIM:619488
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Decreased response to growth hormone stimulation test, Polycoria, Microcornea, Hy...	OMIM:180500
Microphthalmia, Syndromic 9	Inguinal hernia, Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Bilateral microph...	OMIM:601186
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epicanthus, Cataract, Brushfield spots, Upslanted palpebral fissure, Opacification of the corneal...	OMIM:214100
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Fraser Syndrome	Omphalocele, Anophthalmia, Abnormal hair pattern, Cryptorchidism, Lacrimal duct aplasia, Malforme...	ORPHA:2052
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Astigmatism, Corneal opacity, Ankle flexion contracture	ORPHA:464311
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Bickerstaff Brainstem Encephalitis	Ptosis, Facial palsy, Anisocoria, Weakness of facial musculature, Limb muscle weakness, Facial pa...	ORPHA:79138
Autosomal Dominant Cutis Laxa	Inguinal hernia, Corneal opacity, Bronchiectasis, Developmental cataract, Pyelonephritis, Hernia,...	ORPHA:90348
Meckel Syndrome, Type 1	Omphalocele, Camptodactyly of finger, Cryptorchidism, Bile duct proliferation, Microphthalmia, Ep...	OMIM:249000
Thrombocytopenia-Absent Radius Syndrome	Seborrheic dermatitis, Cataract, Corneal opacity, Ptosis	OMIM:274000
Juvenile Xanthogranuloma	Iritis, Blepharitis, Uveitis, Asymmetry of iris pigmentation	ORPHA:158000
Cornelia De Lange Syndrome	Cataract, Curly eyelashes, Highly arched eyebrow, Congenital diaphragmatic hernia, Synophrys, Pht...	ORPHA:199
Microphthalmia, Syndromic 6	Anophthalmia, Retinal dystrophy, Sclerocornea, Cryptorchidism, Orbital cyst, Microcornea, Colobom...	OMIM:607932
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Occipital Horn Syndrome	Coarse hair, Pili torti, Hiatus hernia	OMIM:304150
Retinoblastoma	Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, ...	ORPHA:790
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Hypertension, Leukocoria, Telangiectasia	OMIM:219250
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Multiple joint contractures, Camptodactyly of finger, Ankle flexion contractur...	ORPHA:468631
Seckel Syndrome 2	Microphthalmia, Heart murmur	OMIM:606744
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Charge Syndrome	Hypoparathyroidism, Omphalocele, Cataract, Anophthalmia, Decreased response to growth hormone sti...	OMIM:214800
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Mucopolysaccharidosis, Type Iva	Inguinal hernia, Recurrent pneumonia, Opacification of the corneal stroma, Grayish enamel	OMIM:253000
Heart And Brain Malformation Syndrome	Microphthalmia, Camptodactyly of finger, Limb hypertonia	OMIM:616920
Peters Plus Syndrome	Inguinal hernia, Cataract, Corneal opacity, Microcornea, Upslanted palpebral fissure, Peters anom...	ORPHA:709
Lathosterolosis	Epicanthus, Cataract, Opacification of the corneal stroma, Downslanted palpebral fissures, Ptosis	OMIM:607330
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Absent gallbladder, Microphthalmia, Cyclopia, Iris coloboma	ORPHA:3186
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Matthew-Wood Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas...	ORPHA:2470
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro...	OMIM:210710
Isolated Arrhinia	Microphthalmia, Eyelid coloboma	ORPHA:1134
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Hydrolethalus	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:2189
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Corneal opacity, Bacterial endocarditis, Ptosis	ORPHA:2072
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Optic atrophy, Unilateral microphthalmos	OMIM:615085
Townes-Brocks Syndrome	Cataract, Blepharophimosis, Cryptorchidism, Chorioretinal coloboma, Limbal dermoid, Microphthalmi...	ORPHA:857
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal pupil morphology, Flexion contracture, Microcornea, Iris coloboma, Iris atrophy, Highly ...	ORPHA:261552
Williams Syndrome	Epicanthus, Flat cornea, Cataract, Corneal opacity, Abnormal fingernail morphology, Blepharophimo...	ORPHA:904
Limb Body Wall Complex	Ventral hernia, Corneal opacity, Congenital diaphragmatic hernia, Lens subluxation, Iris coloboma	ORPHA:2369
Adams-Oliver Syndrome 1	Microphthalmia, Alopecia, Small nail, Supernumerary nipple	OMIM:100300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Tetraamelia Syndrome 1	Microphthalmia, Adrenal gland agenesis, Cataract, Congenital diaphragmatic hernia	OMIM:273395
Gaucher Disease	Osteomyelitis, Corneal opacity, Osteoarthritis, Hepatitis, Cherry red spot of the macula, Arthrog...	ORPHA:355
Meckel Syndrome, Type 2	Omphalocele, Microphthalmia, Bile duct proliferation	OMIM:603194
Joubert Syndrome 2	Microphthalmia, Optic disc coloboma, Retinal dystrophy, Chorioretinal coloboma	OMIM:608091
Fanconi Anemia, Complementation Group L	Upslanted palpebral fissure, Microphthalmia	OMIM:614083
Microphthalmia, Syndromic 1	Anophthalmia, Cryptorchidism, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioreti...	OMIM:309800
Mucopolysaccharidosis Type 2	Inguinal hernia, Corneal opacity, Contractures of the large joints, Flexion contracture of digit,...	ORPHA:580
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Congenital ...	ORPHA:93325
Mucopolysaccharidosis Type 2, Severe Form	Inguinal hernia, Corneal opacity, Camptodactyly of finger, Flexion contracture, Arthritis, Umbili...	ORPHA:217085
Fanconi Anemia, Complementation Group D2	Blepharophimosis, Cryptorchidism, Annular pancreas, Microphthalmia	OMIM:227646
Mucopolysaccharidosis Type 2, Attenuated Form	Inguinal hernia, Corneal opacity, Camptodactyly of finger, Flexion contracture, Arthritis, Umbili...	ORPHA:217093
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Cryptorchidism, Congenital hypoparathyroidism, Decreased response to growth hormo...	OMIM:241410
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy	OMIM:619053
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Liver Disease, Severe Congenital	Chronic gastritis, Epicanthus, Dry hair, Inguinal hernia, Pneumonia, Eczema, Peritonitis, Nail dy...	OMIM:619991
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Low posterior hairline	OMIM:617925
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, Endocarditis, Acute infec...	ORPHA:707
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Telecanthus, Cataract, Cryptorchidism, Flexion contracture, Hydrocele testis, Astigmatism, Retina...	ORPHA:261537
Wilson Disease	Kayser-Fleischer ring, Osteoarthritis, Atypical or prolonged hepatitis, Chondrocalcinosis	OMIM:277900
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ectopic posterior pituitary, Epicanthus, Inguinal hernia, Optic nerv...	ORPHA:508488
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Osteogenesis Imperfecta	Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Osteoarthritis, Flexion cont...	ORPHA:666
Facial Spasm	Anisocoria	OMIM:134300
Digeorge Syndrome	Inguinal hernia, Acne, Femoral hernia, Sclerocornea, Seborrheic dermatitis, Blepharophimosis, Rec...	OMIM:188400
Mowat-Wilson Syndrome	Telecanthus, Cataract, Cryptorchidism, Flexion contracture, Hydrocele testis, Astigmatism, Retina...	ORPHA:2152
Yunis-Varon Syndrome	Sparse scalp hair, Epicanthus, Cataract, Sparse eyelashes, Absent nipple, Sclerocornea, Sparse ey...	OMIM:216340
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Cryptorchidism, Nail d...	OMIM:146510
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation	OMIM:611134
Pallister-Hall Syndrome	Thyroid hypoplasia, Inguinal hernia, Cryptorchidism, Adrenocorticotropic hormone deficiency, Gona...	ORPHA:672
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Microphthalmia, Cyclopia, Umbilical hernia	ORPHA:2166
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c...	OMIM:157170
Fanconi Anemia, Complementation Group F	Microphthalmia, Pneumonia	OMIM:603467
Marburg Hemorrhagic Fever	Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Arthritis, Conjunctival hype...	ORPHA:99826
Meckel Syndrome 14	Microphthalmia, Mitral regurgitation, Tricuspid regurgitation	OMIM:619879
Leptospirosis	Pericarditis, Skin rash, Hepatitis, Uveitis, Optic neuritis, Conjunctival hyperemia	ORPHA:509
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Craniofacial Microsomia 1	Anophthalmia, Hypoplasia of facial musculature, Blepharophimosis, Upper eyelid coloboma, Limbal d...	OMIM:164210
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Pinealoma	OMIM:180200
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia, Esophagitis, Hiatus hernia	ORPHA:2538
Fanconi Anemia, Complementation Group E	Microphthalmia, Cryptorchidism	OMIM:600901
Fanconi Anemia, Complementation Group A	Microphthalmia, Cryptorchidism	OMIM:227650
Holoprosencephaly 9	Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:610829
Alström Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Portal hyp...	ORPHA:64
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma	OMIM:615287
Hydrolethalus Syndrome 1	Omphalocele, Microphthalmia, Agenesis of the diaphragm, Adrenal gland dysgenesis	OMIM:236680
Holoprosencephaly 1	Microphthalmia, Cyclopia	OMIM:236100
Oligodontia	Enamel hypoplasia	ORPHA:99798

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 Tgfa

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 Tgfa.

No publications found that use IMPC mice or data for Tgfa.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us