Not currently registered for phenotyping at IMPC

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

Gene Summary

msh homeobox 2
Hox8,  Hox-8,  Hox8.1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Msx2 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.

The table below shows human diseases associated to Msx2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Msx2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea, Microphthalmia, Coloboma OMIM:251505
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,... OMIM:269400
Alopecia Areata 2
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis OMIM:610753
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Microphthalmia, Anterior synechiae of the anterior chamber, Hypoplasia o... OMIM:604229
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Alopecia Universalis Congenita
Alopecia universalis, Absent axillary hair, Absent eyelashes, Absent eyebrow, Absent pubic hair OMIM:203655
Hypotrichosis Simplex
Sparse body hair, Alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes, Sparse scalp hair ORPHA:55654
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Retinal detachment, Microphthalmia, Posterior embryotoxon, Chorioretinal... ORPHA:1473
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... OMIM:309300
Hypotrichosis 4
Sparse body hair, Uncombable hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair OMIM:146550
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Alopecia Areata 1
Nail pits, Alopecia universalis, Patchy alopecia, Trachyonychia, Alopecia totalis OMIM:104000
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Retinal detachme... OMIM:610202
Alopecia Universalis
Absent eyebrow, Alopecia universalis, Patchy alopecia, Absent eyelashes ORPHA:701
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Microphakia, Phthisis bulbi, Nasolacrimal duct obstruction, Rod-cone dys... OMIM:612109
Hypotrichosis 11
Alopecia universalis, Absent axillary hair, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypo... OMIM:615059
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Hypoplasia of the fovea, Epicanthus, Upslanted palpebral fissure, Optic atrophy, Ptosis OMIM:620086
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Retinal detachment, Microphakia, Abnormality of retinal pigmentation, Lens subluxation ORPHA:171844
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Microphthalmia, Posterior synechia... OMIM:610256
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Anophthalmia OMIM:616428
Cherry red spot of the macula, Corneal opacity ORPHA:351
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Cataract 9, Multiple Types
Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... ORPHA:98973
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse pubic hair, Sparse scalp hair ORPHA:505
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Uveitis, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Sha... OMIM:221900
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Freckling, Iris hypopigmentation, Abnormal size of the palpebral fissures, Iris coloboma, Hypopig... ORPHA:3214
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Stickler Syndrome Type 2
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy ORPHA:90654
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Thin toenail, Alopecia, Dystrophic toenail OMIM:614928
Microphthalmia, Syndromic 13
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Microcornea, Ptosis OMIM:300915
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Unilateral micropht... ORPHA:137902
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Optic nerve misrouting, Microphthalmia, Foveal hyperpigment... OMIM:609218
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyal... ORPHA:231736
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy OMIM:616722
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Dermoids Of Cornea
Corneal opacity OMIM:304730
Trichodentoosseous Syndrome
Increased bone mineral density, Widely spaced teeth, Taurodontia, Microdontia, Fragile nails, Abn... OMIM:190320
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Aplasia/Hypop... ORPHA:1067
Cranioectodermal Dysplasia
Craniosynostosis, Short distal phalanx of finger, Abnormality of the dentition, Abnormal metaphys... ORPHA:1515
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy, Abnormality of skin pigmentation OMIM:300719
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris atrophy, Nummul... OMIM:613835
Corneal Dystrophy, Congenital Stromal
Corneal erosion, Increased corneal thickness, Band-shaped corneal dystrophy, Corneal dystrophy OMIM:610048
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:120433
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Microphthalmia, Retinal dysplasia, Developmental cataract, Co... ORPHA:324416
Trichorhinophalangeal Syndrome, Type I
Protruding ear, Coxa magna, Short metatarsal, Osteoarthritis, Slow-growing hair, Narrow palate, C... OMIM:190350
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails,... ORPHA:2722
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy, Generalized hyperpigmentation ORPHA:2253
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... ORPHA:64734
Trisomy 4P
Camptodactyly of finger, Radial club hand, Abnormal palate morphology, Abnormality of the dentiti... ORPHA:1738
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Microphthalmia, Abnorma... OMIM:251270
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ectopia lentis, Iris coloboma, Abnormality of retinal pigmentation, Palpebral edema, Ptosis ORPHA:1259
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Microphthalmia, Bone spicule pi... OMIM:611040
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Attenuation of ... OMIM:204100
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Infantile spasms, Cryptorchidism, Congenital hip dislocation, Widely spaced teeth, Dislocation of... OMIM:619797
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Coloboma 5
Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Anophthalmia OMIM:611638
Trichothiodystrophy 9, Nonphotosensitive
Tiger tail banding, High, narrow palate, Dental malocclusion, Sparse eyebrow, Joint laxity, Nail ... OMIM:619692
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Epicanthus, Upslanted palpebral fissure, Microphthalmia, Microcornea ORPHA:2528
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Microphthalmia, Corneal arcus, Sclerocornea, Corneal opacity, Flat c... OMIM:217300
Spondylo-Ocular Syndrome
Cataract, Iris hypopigmentation, Abnormal eyebrow morphology, Retinal detachment, Microphthalmia,... ORPHA:85194
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Hip dysplasia, Widely spaced teeth, Thick eyebrow, Highly arched ... OMIM:619293
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Retinitis Pigmentosa 84
Cataract, Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation... OMIM:618220
Rubinstein-Taybi Syndrome 2
High palate, Long eyelashes, Retrognathia, Short first metatarsal, Posterior helix pit, Posterior... OMIM:613684
Hemifacial Atrophy, Progressive
Patchy alopecia, Short mandibular rami, Poliosis, Tongue atrophy, Dental malocclusion, Seizure, D... OMIM:141300
Pierpont Syndrome
Widely spaced teeth, Hearing impairment, High anterior hairline, Short toe, Thin vermilion border... ORPHA:487825
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... ORPHA:2334
Warburg Micro Syndrome 1
Low-set ears, Cryptorchidism, Facial hypertrichosis, Overlapping toe, Osteoporosis, Narrow mouth,... OMIM:600118
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Dystrophic toenail, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Attenuation of retinal ... OMIM:604393
Craniosynostosis 3
Bicoronal synostosis, Hallux valgus, Left unicoronal synostosis, Right unicoronal synostosis, Low... OMIM:615314
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... OMIM:217800
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Iris coloboma, Microphthalmia, Peters anomaly, Coloboma OMIM:610023
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Microphthalmia OMIM:613517
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Macular atrophy, Iris coloboma, Corneal scarring, Retinal detachment, Microphthalmia, B... OMIM:212550
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Iris coloboma, Retinal detachment, Microphthalmia, Macular coloboma, Sc... OMIM:615145
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Florid Cemento-Osseous Dysplasia
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... ORPHA:83451
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Hip dislocation, Alopecia, Short middle phalanx of the 5th finger, Cutaneous finger syndactyly, L... OMIM:203550
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail ORPHA:169095
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Thumb Deformity And Alopecia
Short stature, Alopecia OMIM:188150
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... ORPHA:364055
Retinitis Pigmentosa 4
Cataract, Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Atten... OMIM:613731
Intermediate Uveitis
Cataract, Vitreous floaters, Optic neuritis, Vitreous snowballs, Epiretinal membrane, Cystoid mac... ORPHA:279914
2Q24 Microdeletion Syndrome
Cataract, Downslanted palpebral fissures, Microphthalmia, Abnormality iris morphology, Coloboma ORPHA:1617
Retinitis Pigmentosa 9
Cataract, Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular e... OMIM:180104
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Parc Syndrome
Absent eyebrow, Alopecia, Absent eyelashes OMIM:600331
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Microphthalmia, Retinal degeneration, Shallow ante... OMIM:267760
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Camptodactyly of finger, Inguinal hernia, Cryptorchidism, Abnorma... ORPHA:3080
Muenke Syndrome
Clinodactyly, High palate, Coronal craniosynostosis, Malar flattening, Thimble-shaped middle phal... OMIM:602849
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Sparse body hair, Trichorrhexis nodosa, Brittle hair, Alopecia, Coarse hair, Spa... ORPHA:3361
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Increased bone mineral density, Widely spaced teeth, Taurodontia, Enamel ... ORPHA:3352
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Cone-Rod Dystrophy 16
Cataract, Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallo... OMIM:614500
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Morquio Syndrome C
Corneal opacity OMIM:252300
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Morning glory anomaly, Microphthalmia, Chorioretinal coloboma, Corneal opaci... OMIM:120200
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Upslanted palpebral fissure, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:616108
Coats Disease
Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ... ORPHA:190
Auriculocondylar Syndrome 2
Low-set ears, Overfolding of the superior helices, Temporomandibular joint ankylosis, Posteriorly... OMIM:614669
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ring Dermoid Of Cornea
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... OMIM:180550
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Pili torti, Onycholysis, Brittle hair, Alopecia, Temporal hypotrichosis, Absent... OMIM:602032
Distal Deletion 6P
Ectopia pupillae, Epicanthus, Downslanted palpebral fissures, Abnormal anterior chamber morpholog... ORPHA:96125
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Alopecia, Seizure, Progressive sen... OMIM:136300
Norrie Disease
Cataract, Retinal detachment, Optic atrophy, Buphthalmos, Microphthalmia, Shallow anterior chambe... OMIM:310600
Osteolytic defects of the distal phalanges of the hand, Rhizomelia, Carious teeth, Increased susc... ORPHA:763
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Inguinal hernia, Tooth agenesis, Flattened epiphysis, Advanced ossification of carpal bones, Clef... OMIM:618363
Macroglossia, Craniofacial hyperostosis, Chronic otitis media, Inguinal hernia, Hip dysplasia, Hy... ORPHA:61
Leber Congenital Amaurosis 1
Cataract, Pigmentary retinopathy, Fundus atrophy, Keratoconus, Attenuation of retinal blood vesse... OMIM:204000
Winchester Syndrome
Corneal opacity OMIM:277950
Fatty Acyl-Coa Reductase 1 Deficiency
Dandy-Walker malformation, Highly arched eyebrow, Seizure, Long philtrum, Smooth philtrum, Macrot... ORPHA:438178
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Patchy alopecia, Plantar hyperkeratosis, Enamel hypoplasia, Fragile nail... OMIM:226650
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma, Microphthalmia ORPHA:363741
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, Short distal phalanx of finger, Camptodactyly of finger, Hallux v... ORPHA:1327
Leber Congenital Amaurosis 9
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... OMIM:608553
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Microphthalmia, Retinal coloboma OMIM:601794
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Macular atrophy, Optic disc pallor, Microphthalmia, Retinopathy, Optic atrophy, Microco... OMIM:616171
Seckel Syndrome 1
Hip dislocation, Selective tooth agenesis, Cleft palate, 11 pairs of ribs, Cone-shaped epiphyses ... OMIM:210600
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Chorioretinal dysplasia, Epicanthus, Astigmatism, Downslanted palpebral fissures, Retin... OMIM:152950
Persistent Hyperplastic Primary Vitreous
Cataract, Tractional retinal detachment, Microphthalmia, Buphthalmos, Persistent pupillary membra... ORPHA:91495
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Alopecia universalis, Abnormal eyelash morphology, Hydrocephalus, Sparse scalp ... ORPHA:1008
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Optic atrophy, Corneal dystrophy ORPHA:2572
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Seizure, Cerebellar vermis atrophy, Long philtrum, Macrotia, Thin upper li... OMIM:616154
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Phacoanaphylactic Uveitis
Vitreoretinopathy, Abnormal corneal endothelium morphology, Tractional retinal detachment, Retina... ORPHA:209959
Pierpont Syndrome
Widely spaced teeth, Hearing impairment, Prominent median palatal raphe, High anterior hairline, ... OMIM:602342
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, High palate, Bifid uvula, Flattened epiphysis, Short phalanx of finger, ... OMIM:612350
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Epiretinal membrane, Keratitis, Opacification of the corneal stroma OMIM:148200
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Nail dysplasia, Nail dystrophy, Mandibular prognathia, Abnormalit... OMIM:601957
Idiopathic Panuveitis
Cataract, Vitreous floaters, Vitreous snowballs, Epiretinal membrane, Cystoid macular edema, Conj... ORPHA:280921
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Temple-Baraitser Syndrome
Short distal phalanx of finger, Thick eyebrow, Broad thumb, High anterior hairline, Short phalanx... ORPHA:420561
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Weaver Syndrome
Camptodactyly of finger, Inguinal hernia, Pes cavus, Broad thumb, Low-set, posteriorly rotated ea... ORPHA:3447
Oculodentodigital Dysplasia
Camptodactyly of finger, Tooth agenesis, Abnormal cortical bone morphology, Abnormal diaphysis mo... ORPHA:2710
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Dental malocclusion, Clavicular sclerosi... OMIM:144750
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Cataract, Phakodonesis, Ectopia lentis, Downslanted palpebral fissures, Spontaneous conjunctival ... OMIM:601552
Pyle Disease
Absent paranasal sinuses, Limited elbow extension, Reduced bone mineral density, Hypoplastic fron... OMIM:265900
Bietti Crystalline Dystrophy
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... ORPHA:41751
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Astigmatism, Pigmentary retinopathy OMIM:268060
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Cataract, Abnormality of retinal pigmentation ORPHA:65
Vitamin D-Dependent Rickets, Type 2A
Rickets, Thin bony cortex, Secondary hyperparathyroidism, Alopecia universalis, Bulging epiphyses... OMIM:277440
Cataract 50 With Or Without Glaucoma
Cataract, Retinal detachment, Persistent pupillary membrane OMIM:620253
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Limb undergrowth, Malar flattening, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micr... OMIM:118651
Cataract, Long eyelashes OMIM:190330
Yemenite Deaf-Blind Hypopigmentation Syndrome
Iris coloboma, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Chorioretinal col... OMIM:601706
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Megalocornea, Iridodonesis, Microspherophakia, Buphthalmos, Deep anterior chamber OMIM:251750
Morning Glory Disc Anomaly
Optic disc coloboma, Retinal detachment, Cataract, Abnormality of retinal pigmentation ORPHA:35737
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Mcdonough Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal palate morphology, Protruding ear, Sy... ORPHA:2471
Amelogenesis Imperfecta
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... ORPHA:88661
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Synophrys, Dental malocclusion, Anteverted ears, Macrotia OMIM:615541
Zimmermann-Laband Syndrome
Facial hypertrichosis, Bifid uvula, Pes cavus, Thick eyebrow, Cleft palate, Supernumerary tooth, ... ORPHA:3473
Coffin-Siris Syndrome 2
Short distal phalanx of finger, Inguinal hernia, Thick eyebrow, Cleft palate, Hearing impairment,... OMIM:614607
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Myoclonic seizure, Amelogenesis imperfecta, Bilateral tonic-clonic seizure, ... OMIM:226750
Auriculocondylar Syndrome 1
Low-set ears, Overfolding of the superior helices, Posteriorly rotated ears, Ankylosis, Cleft pal... OMIM:602483
Rafiq Syndrome
Low-set ears, Malar flattening, Broad eyebrow, Highly arched eyebrow, Sparse lateral eyebrow, Spa... OMIM:614202
Otodental Syndrome
Cataract, Lens coloboma, Iris coloboma, Microphthalmia, Retinal coloboma, Microcornea ORPHA:2791
Intermediate Osteopetrosis
Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal... ORPHA:210110
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Fractured radius, Decreased fibular diameter, Limb undergrowth, Unilateral cleft li... OMIM:616897
Cerebrooculofacioskeletal Syndrome 1
Second metatarsal posteriorly placed, Rocker bottom foot, Thin vermilion border, Carious teeth, C... OMIM:214150
Cleft Palate, Isolated
Micrognathia, Cleft palate, Seizure, Gingival overgrowth, Anterior open-bite malocclusion, Increa... OMIM:119540
Hidrotic Ectodermal Dysplasia
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... ORPHA:189
Oliver-Mcfarlane Syndrome
Long eyelashes, Central heterochromia, Pigmentary retinopathy, Retinal degeneration, Long eyebrows OMIM:275400
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Wagner Vitreoretinopathy
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... OMIM:143200
Microphthalmia, Syndromic 16
Anophthalmia, Ankyloblepharon, Sclerocornea, Microphthalmia OMIM:611038
Cat-Eye Syndrome
Downslanted palpebral fissures, Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:195
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Oligodontia, Slender toe, Narrow mouth, Cerebellar hypoplasia, Sparse hair, Down-sloping shoulder... ORPHA:391408
Abnormal choroid morphology, Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Retinal detachment, Microphthalmia, Corneal opacity, Coloboma OMIM:613153
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Pili torti, Patchy alopecia, Sparse eyelashes, Hypoplastic toenails, Widely spaced... OMIM:613573
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati... ORPHA:98960
Retinitis Pigmentosa 13
Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen... OMIM:600059
Dentin Dysplasia, Type I
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... OMIM:125400
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Ectopia lentis, Microspherophakia OMIM:614819
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Toenail dysplasia, Tooth agenesis, Anemia, Hypoplastic toenails, Mandibular prognathia, Alopecia,... ORPHA:2325
11P15.4 Microduplication Syndrome
Synophrys, Posteriorly rotated ears, Highly arched eyebrow, Seizure, Long philtrum, Smooth philtr... ORPHA:300305
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Abnormal toenail morphology, Fine hair, Alopecia, Abnormal fingernail morphology, A... ORPHA:248
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Cataract,... ORPHA:891
Brittle Cornea Syndrome 1
Epicanthus, Keratoglobus, Decreased corneal thickness, Keratoconus, Red hair, Abnormal cornea mor... OMIM:229200
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Intellectual Disability, Buenos-Aires Type
High palate, Reduced bone mineral density, Umbilical hernia, Fine hair, Mandibular prognathia, Ab... ORPHA:3079
Microcephaly 17, Primary, Autosomal Recessive
Low anterior hairline, Seizure, Macrotia, Cerebellar hypoplasia, Thick vermilion border OMIM:617090
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, High palate, Low-set ears, Overlapping toe, Wide anterior fontanel, Short tibia, Po... OMIM:201170
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Onychogryposis of fingernail, Short thumb, Protruding ear, Finger syndac... ORPHA:2251
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Generalized clonic seizure, High palate, Deep philtrum, Low anterior hairline, Generalized myoclo... ORPHA:329178
Mucolipidosis Iv
Optic atrophy, Corneal opacity, Opacification of the corneal stroma, Retinal degeneration OMIM:252650
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... OMIM:217700
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal stromal edema, Increased corneal thickness, Corneal opacity, Abnor... ORPHA:293603
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Incomplete cleft of the upper lip, Unicoronal synostosis, Cleft palate, ... OMIM:616300
Sulfite Oxidase Deficiency, Isolated
Fine hair, Bilateral tonic-clonic seizure, Delayed eruption of teeth, Macrotia, Cerebellar hypopl... OMIM:272300
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Abnormality of chorioretinal pigmentation, Pulverulent cataract, Pigmentary retinopathy, Retinal ... OMIM:193220
Gómez-López-Hernández Syndrome
Telecanthus, Corneal opacity ORPHA:1532
Bornholm Eye Disease
Astigmatism, Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Non Rare In Europe: Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Nuclear cataract, Poste... ORPHA:280914
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal dystrophy, Palpebral edema, Corneal opacity, Opacification of the cornea... OMIM:608470
Brittle Cornea Syndrome 2
Corneal perforation, Megalocornea, Keratoglobus, Decreased corneal thickness, Keratoconus, Sclero... OMIM:614170
Christianson Syndrome
Generalized-onset seizure, Mandibular prognathia, Thick eyebrow, Adducted thumb, Macrotia, Aplasi... ORPHA:85278
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Anonychia, Anemia, Enamel hypoplasia, Oral mucosal blisters, Palmoplantar kerat... ORPHA:79402
Coffin-Siris Syndrome 3
Inguinal hernia, Thick eyebrow, Cleft palate, Hearing impairment, Short distal phalanx of the 5th... OMIM:614608
L-Ferritin Deficiency
Alopecia OMIM:615604
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Hip dysplasia, Mandibular prognathi... ORPHA:1858
Hall-Riggs Mental Retardation Syndrome
Osteoporosis, Enamel hypoplasia, U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, S... OMIM:234250
Regional Odontodysplasia
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... ORPHA:83450
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Cerebellofaciodental Syndrome
Low-set ears, Cryptorchidism, Hypoplasia of the pons, Fine hair, Taurodontia, Shortening of all d... OMIM:616202
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Rapp-Hodgkin Syndrome
Bifid uvula, Onychogryposis, Cleft palate, Hearing impairment, Narrow mouth, Slow-growing hair, S... OMIM:129400
Congenital Disorder Of Glycosylation, Type Iia
Proximal placement of thumb, Thick eyebrow, Thin vermilion border, Hirsutism, Cerebellar hypoplas... OMIM:212066
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Generalized joint laxity, Agenesis of permanent teeth, Cleft palate, Broad thumb, Narrow mouth, I... ORPHA:251028
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Toenail dysplasia, High palate, Low-set ears, Conductive hearing impairment, Synophrys, Posterior... OMIM:617877
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of the skin, Hypopigmentation of hair, Whi... ORPHA:42665
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... ORPHA:98964
Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy, Sparse hair OMIM:158000
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Neovascular Glaucoma
Abnormal uvea morphology, Retinal vascular proliferation, Retinal detachment, Abnormal anterior c... ORPHA:94058
Hamamy Syndrome
Inguinal hernia, Hip dysplasia, Hypoparathyroidism, Long fingers, Sparse eyebrow, Smooth philtrum... OMIM:611174
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Microphthalmia With Brain And Digit Anomalies
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Sclerocornea, Anophthalmia, Micr... ORPHA:139471
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Abnormal eyelash morphology, Bilateral microphthalmos, Lipomas of eyelids, Microphthalm... ORPHA:2399
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Severe short stature, Alopecia totalis OMIM:302000
Cofs Syndrome
Cataract, Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1466
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma OMIM:613703
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Abnormal pinna morphology, Synophrys, Generalized myoclonic seizure, Tapered finger, Horizontal e... ORPHA:352530
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal chondrodysplasia, Short lower limbs, Abnormality of the dentition, Abnormal metaphysi... ORPHA:2501
Spinocerebellar Ataxia, Autosomal Recessive 20
Macroglossia, Camptodactyly, High palate, Hypertrichosis, Broad philtrum, Dental crowding, Spleno... OMIM:616354
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Macrotia, Sparse hair, Thin upper lip ve... OMIM:613576
Trichorhinophalangeal Syndrome Type 1
Short distal phalanx of finger, Camptodactyly of finger, Protruding ear, Short metatarsal, Fragil... ORPHA:77258
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Otodental Dysplasia
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... OMIM:166750
Gomez-Lopez-Hernandez Syndrome
Craniosynostosis, High palate, Low-set ears, Agenesis of cerebellar vermis, Malar flattening, Wid... OMIM:601853
48,Xxyy Syndrome
Chronic otitis media, Decreased testicular size, Inguinal hernia, Cryptorchidism, Hip dysplasia, ... ORPHA:10
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Exudative Vitreoretinopathy 5
Retinal exudate, Tractional retinal detachment, Shallow anterior chamber, Falciform retinal fold,... OMIM:613310
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal palate morphology, Hydrocephalus, Dee... ORPHA:2701
Choroidal Dystrophy, Central Areolar, 1
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy OMIM:215500
Shprintzen-Goldberg Craniosynostosis Syndrome
Inguinal hernia, Narrow palate, Joint contracture of the hand, Camptodactyly, Cryptorchidism, Con... OMIM:182212
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Large earlobe, Dental malocclusion OMIM:155050
Gingival Fibromatosis-Hypertrichosis Syndrome
Abnormality of the dentition, Synophrys, Gingival fibromatosis, Thick eyebrow, Seizure, Delayed e... ORPHA:2026
Birdshot Chorioretinopathy
Cataract, Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal d... ORPHA:179
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Broad long bones, Narrow mouth, Thin vermilion border, ... OMIM:257850
Rhizomelic Chondrodysplasia Punctata, Type 1
Malar flattening, Rhizomelia, Alopecia, Cleft palate, Seizure, Flared metaphysis, Epiphyseal stip... OMIM:215100
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Fried Syndrome
High palate, Hydrocephalus, Hearing impairment, Abnormal cerebellum morphology, Macrotia, Short p... ORPHA:85335
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Ane... ORPHA:1802
Van Maldergem Syndrome 2
Inguinal hernia, Hypoplastic nipples, Hearing impairment, High anterior hairline, Cutaneous finge... OMIM:615546
Specific Granule Deficiency 2
Conical tooth, Low-set ears, Nail dysplasia, Tooth malposition, Absent neutrophil specific granul... OMIM:617475
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Inguinal hernia, Protruding ear, Broad thumb, Partial absence of cerebellar vermis, Highly arched... ORPHA:329224
Femoral-Facial Syndrome
Low-set ears, Inguinal hernia, Abnormality of fibula morphology, Hip dysplasia, Cryptorchidism, M... ORPHA:1988
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short finger, Joint stiffness, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphyseal wideni... OMIM:608940
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Epicanthus, Abnormal retinal vascular morphology, Synophrys, Downslanted palpebral fissures, Hete... ORPHA:1390
Macular Corneal Dystrophy
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal crystals, Decreased cor... ORPHA:98969
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Protruding ear, Dystrophic toenail, Toe syndactyly, Highly arched eyebrow, Carious teeth, Nail dy... ORPHA:3253
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Primary Condylar Hyperplasia
Macrodontia, Abnormality of the temporomandibular joint, Abnormal mandible condylar process morph... ORPHA:477781
Larsen-Like Syndrome
Low-set ears, Conductive hearing impairment, Radial deviation of the 4th finger, Malar flattening... OMIM:608545
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Amelogenesis imperfecta, Trichodysplasia ORPHA:79129
Candidiasis, Familial, 1
Alopecia OMIM:114580
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism, Macular degeneration, Retinal thinning, Mac... OMIM:270200
Fibular Hemimelia
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Renpenning Syndrome
Decreased testicular size, Joint stiffness, Malar flattening, Round ear, Mandibular prognathia, A... ORPHA:3242
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Selective tooth agenesis, Cleft palate, Hearing impairment, Carpal synos... OMIM:305620
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Low-set ears, Posteriorly rotated ears, Delayed eruption of permanent teeth, Rocker bottom foot, ... OMIM:618506
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi... ORPHA:97341
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Epicanthus, Chorioretinal coloboma ORPHA:2489
Coffin-Siris Syndrome 7
Hypoplastic fifth toenail, Low-set ears, Broad philtrum, Posteriorly rotated ears, Microdontia, T... OMIM:618027
Intellectual Developmental Disorder, Autosomal Dominant 65
Infantile spasms, Low-set ears, Synophrys, Posteriorly rotated ears, Low posterior hairline, Tent... OMIM:619320
Dentinogenesis Imperfecta
Knee joint hypermobility, Grayish enamel, Finger joint hypermobility, Abnormal dental pulp morpho... ORPHA:49042
Otoonychoperoneal Syndrome
Low-set ears, Abnormality of the ear, Aplasia/Hypoplasia of the fibula, Posteriorly rotated ears,... OMIM:259780
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Cho... OMIM:312600
Congenital Rubella Syndrome
Cataract, Microphthalmia, Abnormality of retinal pigmentation, Corneal opacity, Aplasia/Hypoplasi... ORPHA:290
Senior-Loken Syndrome
Retinal dystrophy, Cataract, Abnormality of retinal pigmentation ORPHA:3156
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Thin toenail, Abnormality of the dentition, Agenesis of permanent teeth, Fine hair... ORPHA:2228
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibular prognathia, Diaphyseal ... ORPHA:3416
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Alopecia, Ridged nail, Nail dystrophy OMIM:601705
Stuve-Wiedemann Syndrome 1
Clubbing, Pathologic fracture, Absent patellar reflexes, Contracture of the proximal interphalang... OMIM:601559
Chung-Jansen Syndrome
High palate, Cryptorchidism, Hip dysplasia, Synophrys, Thick eyebrow, Tapered finger, Long philtr... OMIM:617991
Low-set ears, Eclabion, Long eyelashes, Long eyebrows, Malar flattening, Seizure, Sparse eyebrow,... ORPHA:397941
Filippi Syndrome
2-4 toe syndactyly, Cryptorchidism, Hypertrichosis, Serrated incisors, Frontal hirsutism, Abnorma... OMIM:272440
Nail-Patella Syndrome
Cataract, Lester's sign, Microphakia, Ptosis, Keratoconus, Microcornea, Antecubital pterygium OMIM:161200
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Telecanthus, Iris coloboma, Upper eyelid coloboma, Microphthalmia, Ab... ORPHA:1791
Lethal Faciocardiomelic Dysplasia
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Narrow mouth, Microretrogna... ORPHA:1972
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... ORPHA:59181
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Mandibu... ORPHA:2790
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... ORPHA:2889
Momo Syndrome
Congenital pseudoarthrosis of the clavicle, Long foot, High palate, Hyperconvex nail, Taurodontia... ORPHA:2563
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Iris coloboma, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Retinal dystrophy OMIM:615147
Congenital Disorder Of Glycosylation, Type Iik
Low-set ears, Malar flattening, Osteoporosis, Amelogenesis imperfecta, Posteriorly rotated ears, ... OMIM:614727
Bartsocas-Papas Syndrome 2
Axillary pterygium, Microphthalmia, Popliteal pterygium, Corneal opacity, Ankyloblepharon, Antecu... OMIM:619339
Eiken Syndrome
Oligodontia, Flattened epiphysis, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:600002
Microphthalmia, Syndromic 5
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microphthalmia, Anophthalmia, Microcornea, C... OMIM:610125
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Retrognathia, Metaphyseal widening, Wide anterior fontanel, Posteriorly rotated ear... OMIM:263210
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Low-set ears, Abnormality of the dentition, Protruding ear, Supernumerary nipple, Pes cavus, Post... ORPHA:3224
Short metatarsal, Osteoporosis, Short metacarpal, Enamel hypoplasia, Pseudohypoparathyroidism, De... OMIM:612463
Takenouchi-Kosaki Syndrome
Inguinal hernia, Proximal placement of thumb, Widely spaced teeth, Highly arched eyebrow, Sparse ... OMIM:616737
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion OMIM:618292
Braddock-Carey Syndrome 1
Camptodactyly, Curly hair, Pierre-Robin sequence, Posteriorly rotated ears, Enamel hypoplasia, Cl... OMIM:619980
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Structural foot deformity, Joint stiffness, Abnormality of the fifth meta... ORPHA:564003
Scheie Syndrome
Corneal opacity, Retinal degeneration OMIM:607016
Lissencephaly 6 With Microcephaly
Synophrys, Widely spaced teeth, Tapered finger, Seizure, Macrotia, Thin upper lip vermilion, Cere... OMIM:616212
Temtamy Syndrome
Telecanthus, Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:1777
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Sparse axillary hair, Dental enamel pits, Dystrophic fingernails, Enam... ORPHA:251393
Macdermot-Winter Syndrome
Camptodactyly of finger, Posteriorly rotated ears, Low anterior hairline, Highly arched eyebrow, ... OMIM:247990
Aniridia 2
Cataract, Iris coloboma, Lens subluxation, Aniridia, Optic atrophy OMIM:617141
Kabuki Syndrome 2
Hip dislocation, Protruding ear, Cleft palate, Hearing impairment, Highly arched eyebrow, Short 5... OMIM:300867
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Cerebellar atrophy, Enamel hypoplasia, Retrognathia OMIM:617915
Craniosynostosis, Infantile spasms, Camptodactyly of finger, Limb joint contracture, Abnormal lon... ORPHA:356961
Glaucoma 3, Primary Congenital, E
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio OMIM:617272
Bjornstad Syndrome
Brittle hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about ... OMIM:262000
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Inguinal hernia, Delayed ossification of carpal bones, Posteriorly ... OMIM:618392
Schuurs-Hoeijmakers Syndrome
Long foot, Diastema, Long eyelashes, Cryptorchidism, Low-set ears, Synophrys, Low anterior hairli... OMIM:615009
Gorham-Stout Disease
Patchy reduction of bone mineral density, Osteolysis, Abnormality of the internal auditory canal,... ORPHA:73
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Thick eyebrow, Hearing impairment, Delayed eruption of teeth, Gingi... ORPHA:2222
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... ORPHA:99798
Retinitis Pigmentosa
Cataract, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Keratoconus,... ORPHA:791
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Exudative retinopathy, Microphthalmia, Exudative vitreoretinopathy, Abnormal ... ORPHA:2788
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Nicolaides-Baraitser Syndrome
Status epilepticus, Highly arched eyebrow, Thin vermilion border, Smooth philtrum, Sparse hair, B... ORPHA:3051
Oculomaxillofacial Dysostosis
Abnormal eyelash morphology, Upslanted palpebral fissure, Sparse or absent eyelashes, Corneal opa... ORPHA:1794
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Hip dysplasia, Sagittal craniosynostosis, Broad phalanx of the to... OMIM:614378
Hypotrichosis 5
Absent axillary hair, Sparse eyelashes, Abnormality of the nail, Alopecia, Abnormal sweat gland m... OMIM:612841
Eiken Syndrome
Epiphyseal dysplasia, Thin bony cortex, Abnormal bone ossification, Abnormal fingertip morphology... ORPHA:79106
Hypopigmentation of the fundus, Granular macular appearance, Choroideremia, Pigmentary retinopath... OMIM:303100
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Low-set ears, Diastema, Attached earlobe, Malar flattening, Dental malocclusion, Macrotia, Microg... ORPHA:436245
Mulibrey Nanism
Hypoplastic frontal sinuses, Enamel hypoplasia, Absent frontal sinuses, Dental crowding, Dental m... OMIM:253250
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum, Small nail OMIM:300210
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Abnormal cortic... ORPHA:3152
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
High palate, Decreased testicular size, Hip dysplasia, Cerebellar dysplasia, Bilateral tonic-clon... ORPHA:457240
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Polydactyly, Absent or minimally ossified vertebral bodies, Short ... ORPHA:1505
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Acrootoocular Syndrome
Grayish enamel, Short toe, Supernumerary tooth, Conductive hearing impairment, Anodontia, Abnorma... ORPHA:2980
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... ORPHA:75377
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Thin bony cortex, Secondary hyperparathyroidism, Bulging epiphyses, Hypocalcemic seizure... OMIM:264700
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Generalized hypopigmentation, Microphthalmia, Shallow orbits, Iris transillumination de... OMIM:617306
Charlie M Syndrome
Tooth agenesis, Abnormal toenail morphology, Finger syndactyly, Abnormal metacarpal morphology, A... ORPHA:1406
Nance-Horan Syndrome
Cataract, Retinal detachment, Microcornea, Microphthalmia ORPHA:627
Pontocerebellar Hypoplasia, Type 3
High palate, Low-set ears, Hypoplasia of the pons, High, narrow palate, Hearing impairment, Seizu... OMIM:608027
X-Linked Intellectual Disability Due To Gria3 Mutations
Uplifted earlobe, Open mouth, Status epilepticus, Short upper lip, Retrocerebellar cyst, Cryptorc... ORPHA:364028
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Abnormal epiphysis morphology, Short middle phalanx of finger, Short middle phalan... ORPHA:63442
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Hypoplasia of teeth, Osteolysis involving bones of the lower limbs, Syndactyly, Ac... ORPHA:88630
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Microph... ORPHA:209956
Oliver Syndrome
Postaxial foot polydactyly, Camptodactyly of finger, High palate, Supernumerary nipple, Hyperconv... ORPHA:2920
Retinitis Pigmentosa 86
Cortical cataract, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618613
Weaver Syndrome
Inguinal hernia, Calcaneovalgus deformity, Pes cavus, Bilateral tonic-clonic seizure, Broad thumb... OMIM:277590
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Craniosynostosis, Metaphyseal chondrodysplasia, Inguinal hernia, Hallux valgus, Cryptorchidism, L... ORPHA:166035
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy ORPHA:293621
Microphthalmia, Syndromic 8
Blepharophimosis, Microcornea, Microphthalmia, Short palpebral fissure OMIM:601349
Crandall Syndrome
Sparse body hair, Fine hair, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti ORPHA:202
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Thick eyebrow, Osteopenia, High, narrow palate, Seizure, Sparse eyebrow, Macrotia, Wide mouth, Th... OMIM:617268
Van Maldergem Syndrome 1
Cutaneous finger syndactyly, Camptodactyly, Conductive hearing impairment, Irregular dentition, M... OMIM:601390
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrop... OMIM:612572
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia OMIM:104530
Adams-Oliver Syndrome 2
Low-set ears, Retrocerebellar cyst, Protruding ear, Hydrocephalus, Low anterior hairline, Alopeci... OMIM:614219
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Open mouth, High palate, Low-set ears, Prominent crus of helix, Synophrys, Widow's peak, Mandibul... OMIM:617804
Acrofacial Dysostosis, Weyers Type
Conical tooth, Toenail dysplasia, Abnormality of the dentition, Nail dystrophy, Overlapping finge... ORPHA:952
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Abnormal pinna morphology, Calcaneovalgus deformity, Equinovarus defo... ORPHA:3078
Oculodentodigital Dysplasia
Hip dislocation, Selective tooth agenesis, Fragile nails, Cleft palate, Slow-growing hair, Cariou... OMIM:164200
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Iris coloboma, Flat cornea, Increased axial length of the globe, Shallow anterio... OMIM:602499
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Camptodactyly, Widely spaced teeth, Knee flexion contracture, Microdontia... OMIM:619694
Kniest Dysplasia
Cataract, Rhegmatogenous retinal detachment, Bilateral ptosis, Vitreoretinopathy, Retinal detachm... ORPHA:485
Developmental And Epileptic Encephalopathy 64
Status epilepticus, Long eyelashes, Widely spaced teeth, Low anterior hairline, Thick eyebrow, Hi... OMIM:618004
Cleft Palate-Large Ears-Small Head Syndrome
Short distal phalanx of finger, Ulnar deviation of finger, Protruding ear, Hypoplastic toenails, ... ORPHA:2013
Ramon Syndrome
Osteolysis, Conductive hearing impairment, Gingival fibromatosis, Seizure, Narrow palate, Delayed... ORPHA:3019
Sjögren-Larsson Syndrome
Corneal erosion, Macular degeneration, Abnormality of retinal pigmentation, Retinopathy, Generali... ORPHA:816
Aniridia 1
Cataract, Hypoplasia of the fovea, Ectopia pupillae, Retinal vascular tortuosity, Ectopia lentis,... OMIM:106210
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Abnormality of the dentition, Abnormal metaphysis morphology, Limb undergrowth,... ORPHA:177
Intellectual Developmental Disorder, X-Linked 9
Seizure, Short distal phalanx of finger, Macrotia, Thick lower lip vermilion OMIM:309549
Galloway-Mowat Syndrome 8
Seizure, Abnormal cerebellum morphology, Enamel hypoplasia, Hearing impairment OMIM:618349
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Ectopia pupillae, Cryptophthalmos, Epicanthus, Long eyelashes, Microphthalmia, Scleroco... OMIM:615877
Intellectual Developmental Disorder, Autosomal Recessive 48
Long philtrum, Mandibular prognathia, Macrotia, Small hand OMIM:616269
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria OMIM:257910
Ck Syndrome
High palate, Retrognathia, Abnormal cortical bone morphology, Malar flattening, Posteriorly rotat... OMIM:300831
Cerebellar-Facial-Dental Syndrome
Inferior cerebellar vermis hypoplasia, Inguinal hernia, Cryptorchidism, Low-set ears, Hypoplasia ... ORPHA:444072
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Peripheral vitreoretinal degeneration, Retinal detachment, Lattice r... OMIM:614292
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon, Posterior synechiae of the anter... OMIM:602482
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Rickets of the lower limbs, Thin bony cortex, Genu varum, Bulging epiphyses, Bowing of t... OMIM:600785
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... ORPHA:69736
Monosomy 18P
Tooth malposition, Protruding ear, Abnormal antihelix morphology, Low posterior hairline, Holopro... ORPHA:1598
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypohidrosis, Fine hair, Dystrophic fingernails, Alopecia, Dystrophic toenail, Sparse eyebrow, Sp... ORPHA:1882
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Retinal dysplasia, Developme... OMIM:613154
Kbg Syndrome
Oligodontia, Cryptorchidism, Vertebral fusion, Synophrys, Thick eyebrow, Cleft palate, Cutaneous ... ORPHA:2332
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Low-set ears, Malar flattening, High, narrow palate, Broad thumb, Hypermobility of interphalangea... ORPHA:3433
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... OMIM:607778
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Conductive hearing impairment, Abnormality of the first metatarsal bone, Metaphyse... OMIM:135100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Cleft lip, Short tibia, Wi... OMIM:617925
Edict Syndrome
Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea OMIM:614303
Cleidocranial Dysplasia
Chronic otitis media, Dystrophic toenail, Cleft palate, Hearing impairment, Supernumerary tooth, ... ORPHA:1452
Congenital Disorder Of Glycosylation, Type Id
High palate, Clinodactyly of the 5th toe, Arthrogryposis multiplex congenita, Nail dysplasia, Bif... OMIM:601110
Rothmund-Thomson Syndrome
Selective tooth agenesis, Short thumb, Abnormal trabecular bone morphology, Supernumerary tooth, ... ORPHA:2909
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Seizure, Macrotia, Micrognathia, Clinodactyly, Wide mouth OMIM:300934
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Progeria-Short Stature-Pigmented Nevi Syndrome
Generalized osteoporosis, Short distal phalanx of finger, Lack of facial subcutaneous fat, Select... ORPHA:2959
Harel-Yoon Syndrome
Developmental cataract, Optic atrophy, Corneal opacity, Upslanted palpebral fissure OMIM:617183
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Joint contracture of the 5th finger, Tapered finger, Long fingers, Long phil... OMIM:614407
Arthrogryposis, Distal, Type 5
Epicanthus, Keratoglobus, Astigmatism, Abnormality of retinal pigmentation, Keratoconus, Blepharo... OMIM:108145
49,Xxxxy Syndrome
Chronic otitis media, Hip dislocation, Cleft palate, Carious teeth, Down-sloping shoulders, Crypt... ORPHA:96264
Fanconi Anemia, Complementation Group S
Long eyelashes, Proximal placement of thumb, Anemia, Low anterior hairline, Ovarian carcinoma, Ma... OMIM:617883
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Low-set, posteriorly rotated ears, Malar flattening, Abnormality of dental morphology, Maxillozyg... ORPHA:2972
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Protruding ear, Seizure, Narrow palate, Macrotia, Talipes equinovarus, Cerebellar atrophy, Joint ... OMIM:617481
Vitreoretinal Degeneration, Snowflake Type
Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Corneal guttata, Retina... OMIM:193230
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... OMIM:617304
Short Stature, Dauber-Argente Type
Reduced bone mineral density, Decreased fibular diameter, Osteopenia, Long fingers, Delayed erupt... OMIM:619489
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Abnormality of the first metatarsal bone, Anemia, Synostosis of joints, Alopecia, ... ORPHA:337
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Congenital hip dislocation, Achilles tendon contracture, Dental malocclu... OMIM:619719
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Nail dysplasia, Anemia, Enamel hypoplasia, Increased connective tissue, Carious teeth, Scarring a... OMIM:226670
Dermatitis, Atopic
Cataract, Keratoconus, Conjunctivitis OMIM:603165
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar aplasia, Wide capital femoral epiphyses, High palate, Patellar hypoplasia, Patellar disl... OMIM:147891
Epidermolysis Bullosa, Junctional 1B, Severe
Nail dysplasia, Syndactyly, Enamel hypoplasia, Carious teeth, Nail dystrophy, Atrophic scars OMIM:226700
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal hair quantity, Camptodactyly of finger, Abnormality of the dentition, Abnormal eyebrow m... ORPHA:3220
Anterior Segment Dysgenesis 3
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... OMIM:601631
Craniometadiaphyseal Dysplasia
Absent paranasal sinuses, High palate, Low-set ears, Genu varum, Malar flattening, Wide anterior ... OMIM:269300
Intellectual Developmental Disorder, X-Linked 101
Clinodactyly, Seizure, Short philtrum, Macrotia OMIM:300928
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Protruding ear, Polysyndactyly of hallux, Short tibia, Bilateral tonic-clon... ORPHA:2751
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613581
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Alopecia, Hearing impairment, Seizure, Split hand, Macrotia, Flexion contractur... ORPHA:2850
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Nasopalpebral Lipoma-Coloboma Syndrome
Upper eyelid coloboma, Lipomas of eyelids, Absent lacrimal punctum, Microphthalmia, Conjunctival ... OMIM:167730
Leri-Weill Dyschondrosteosis
High palate, Abnormality of the humerus, Abnormal metatarsal morphology, Abnormal carpal morpholo... OMIM:127300
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Oligodontia, Calvarial osteosclerosis, Cleft palate, Hearing impa... OMIM:616331
Retinitis Pigmentosa 83
Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret... OMIM:618173
Kerion Celsi
Alopecia ORPHA:499
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Pathologic fracture, Upper limb undergrowth, Limitation of joi... ORPHA:166277
Spondyloepiphyseal Dysplasia Congenita
Reduced bone mineral density, Laryngotracheomalacia, Flat acetabular roof, Osteoporosis, Dysplasi... ORPHA:94068
8P Inverted Duplication/Deletion Syndrome
Positional foot deformity, Abnormality of dental eruption, Aplasia/Hypoplasia of the gallbladder,... ORPHA:96092
Junctional Epidermolysis Bullosa Inversa
Anonychia, Anemia, Enamel hypoplasia, Oral mucosal blisters, Palmoplantar keratoderma, Carious te... ORPHA:79405
48,Xxxy Syndrome
Chronic otitis media, Inguinal hernia, Hip dislocation, Cleft palate, Carious teeth, Down-sloping... ORPHA:96263
Hajdu-Cheney Syndrome
Inguinal hernia, Pathologic fracture, Thick eyebrow, Narrow mouth, Hirsutism, Large earlobe, Prem... OMIM:102500
Microphthalmia With Limb Anomalies
Hip dislocation, Abnormal eyebrow morphology, Short tibia, Cleft palate, Toe syndactyly, Broad th... ORPHA:1106
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Auriculocondylar Syndrome
Bifid uvula, Difficulty in tongue movements, Abnormality of the temporomandibular joint, Cleft pa... ORPHA:137888
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Generalized joint laxity, Synophrys, Tapered finger, Seizure, Recurrent otitis me... ORPHA:589905
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Low-set ears, Sparse eyelashes, Hypoplastic toenails, Sparse eyebrow, Natal tooth, Micrognathia, ... OMIM:616901
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Li... ORPHA:93405
Tricho-Retino-Dento-Digital Syndrome
Juvenile cataract, Abnormality of retinal pigmentation ORPHA:1264
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, High palate, Abnormal diaphysis morphology, Malar flattening, Cur... ORPHA:85184
Gombo Syndrome
Microphthalmia OMIM:233270
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Telecanthus, Aniridia, Corneal opacity, Developmental glaucoma ORPHA:1064
Amelogenesis Imperfecta, Type Ij
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite OMIM:617297
Zika Virus Disease
Abnormal optic disc morphology, Macular atrophy, Iris coloboma, Optic disc hypoplasia, Retinal pi... ORPHA:448237
Developmental And Epileptic Encephalopathy 66
Status epilepticus, Focal-onset seizure, Widely spaced teeth, Bilateral tonic-clonic seizure, Foc... OMIM:618067
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Synophrys, Downslanted palpebral fissures, Ectropion, Thick eyebrow, Conjunctivitis, Long palpebr... OMIM:602562
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Microphthalmia, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Moynahan Syndrome
Sparse hair, Alopecia, Short stature ORPHA:2574
Retinitis Pigmentosa 10
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180105
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Macrotia, Micrognathia ORPHA:397933
17Q11.2 Microduplication Syndrome
Malar flattening, Enamel hypoplasia, Seizure, Sparse eyebrow, Thin vermilion border, Abnormal den... ORPHA:139474
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia ORPHA:1068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11