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Gene: Msx2 MGI:97169

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

msh homeobox 2

Synonyms:

Hox8, Hox-8, Hox8.1

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 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.

Human diseases associated with Msx2 (4 diseases)
Human diseases predicted to be associated with Msx2 (2258 diseases)

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

Disease	Matching phenotypes	Source
Craniosynostosis 2	Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Seizure, Triphala...	OMIM:604757
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Seizure, Sh...	ORPHA:60015
Parietal Foramina 1	Encephalocele, Seizure, Cleft palate, Cleft upper lip	OMIM:168500
Parietal Foramina With Cleidocranial Dysplasia	Microtia, Short clavicles	OMIM:168550

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

Disease	Matching phenotypes	Source
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia, Orbital cyst, Coloboma	OMIM:251505
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal...	ORPHA:1473
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Oculoauricular Syndrome	Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,...	OMIM:612109
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
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
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
Galactosialidosis	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	Microphthalmia, Cataract	OMIM:156850
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mi...	ORPHA:3214
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, U...	OMIM:221900
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Microphthalmia, Syndromic 13	Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis	OMIM:300915
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis...	OMIM:609218
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Trichodentoosseous Syndrome	Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely spaced teeth, Micro...	OMIM:190320
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p...	ORPHA:1067
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormal fingern...	ORPHA:1515
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract	OMIM:300719
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg...	ORPHA:324416
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Protruding ear, Cone-s...	OMIM:190350
Foveal Hypoplasia-Presenile Cataract Syndrome	Generalized hyperpigmentation, Cataract, Optic atrophy	ORPHA:2253
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	OMIM:251270
Trisomy 4P	Smooth philtrum, Low-set, posteriorly rotated ears, Thick eyebrow, Camptodactyly of finger, Abnor...	ORPHA:1738
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Cerebellar atrophy, Congenita...	OMIM:619797
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Iris coloboma, Ptosis	ORPHA:1259
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse ha...	OMIM:619692
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Microcephaly-Microcornea Syndrome, Seemanova Type	Epicanthus, Cataract, Microcornea, Upslanted palpebral fissure, Microphthalmia	ORPHA:2528
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microp...	ORPHA:85194
Blepharophimosis-Impaired Intellectual Development Syndrome	Hypoplasia of the pons, Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Wi...	OMIM:619293
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Seizure, Patchy alopeci...	OMIM:141300
Rubinstein-Taybi Syndrome 2	Syndactyly, Thick eyebrow, Broad hallux, Posteriorly rotated ears, Highly arched eyebrow, Microgn...	OMIM:613684
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Pierpont Syndrome	Uplifted earlobe, Widely spaced teeth, Prominent fingertip pads, Joint laxity, Cryptorchidism, Sh...	ORPHA:487825
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Craniosynostosis 3	Hallux valgus, Sagittal craniosynostosis, Dental malocclusion, Low anterior hairline, Left unicor...	OMIM:615314
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Overlapping toe, Micrognathia, Cryptorchidism, Osteoporosis, Thin v...	OMIM:600118
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero...	OMIM:217800
Microphthalmia, Isolated 6	Microcornea, Microphthalmia, Retinal fold	OMIM:613517
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:610023
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Leber Congenital Amaurosis 4	Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Microp...	OMIM:615145
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Carious teeth, Flexion contracture, Hip disloc...	OMIM:203550
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Thumb Deformity And Alopecia	Alopecia, Short stature	OMIM:188150
Intermediate Uveitis	Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate...	ORPHA:279914
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Intellectual Disability, Wolff Type	Microretrognathia, Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Non-midline cleft li...	ORPHA:3080
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ...	OMIM:267760
Muenke Syndrome	Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Low a...	OMIM:602849
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Dental enamel pits, Increased bone mineral density, Periapical tooth absc...	ORPHA:3352
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology, Coloboma, Microphthalmia, Downslanted palpebral fissures	ORPHA:1617
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom...	OMIM:120200
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Morquio Syndrome C	Corneal opacity	OMIM:252300
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Auriculocondylar Syndrome 2A	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Nar...	OMIM:614669
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Distal Deletion 6P	Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of...	ORPHA:96125
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Flynn-Aird Syndrome	Alopecia, Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Seizure, ...	OMIM:136300
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal...	OMIM:152950
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr...	OMIM:618363
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Pycnodysostosis	Ridged nail, Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Mic...	ORPHA:763
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Inguinal hernia, Open...	ORPHA:61
Fatty Acyl-Coa Reductase 1 Deficiency	Smooth philtrum, Thin upper lip vermilion, Cerebellar atrophy, Highly arched eyebrow, Seizure, Lo...	ORPHA:438178
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ...	OMIM:204000
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alo...	OMIM:226650
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract, Retinal coloboma, Rod-cone dystrophy	ORPHA:363741
Winchester Syndrome	Corneal opacity	OMIM:277950
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Sparse body hair, Alopecia univers...	ORPHA:1008
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Attached earlobe, Camptodact...	ORPHA:1327
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract, Retinal coloboma, Rod-cone dystrophy	OMIM:601794
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop...	OMIM:616171
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Seckel Syndrome 1	Cerebellar vermis hypoplasia, Dental crowding, Selective tooth agenesis, Abnormal finger flexion ...	OMIM:210600
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
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Thin upper lip vermilion, Highly arched eyebrow, Cerebellar vermis atrophy, Seizure, Long philtru...	OMIM:616154
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi...	ORPHA:280921
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Pierpont Syndrome	Large fleshy ears, Widely spaced teeth, Short palm, Prominent fingertip pads, Prominent subcalcan...	OMIM:602342
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Pes planus, Short metacarpal, Osteopenia, Joint laxity, Camptodactyly ...	OMIM:612350
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma	OMIM:148200
Weaver Syndrome	Micrognathia, Hypoplastic toenails, Deep philtrum, Deep-set nails, Finger syndactyly, Low-set, po...	ORPHA:3447
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Abnormality of ha...	OMIM:601957
Temple-Baraitser Syndrome	Tented upper lip vermilion, Hypoplastic thumbnail, Triangular shaped distal phalanx of the thumb,...	ORPHA:420561
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Abnormality of the ear, Clinodactyly of the 5t...	ORPHA:2710
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Anteverted ears, Synophrys, Dental malocclusion, Macrotia	OMIM:615541
11P15.4 Microduplication Syndrome	Posteriorly rotated ears, Highly arched eyebrow, Synophrys, Seizure, Large hands, Increased overb...	ORPHA:300305
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t...	OMIM:265900
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Endosteal Hyperostosis, Autosomal Dominant	Sensorineural hearing impairment, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone ...	OMIM:144750
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr...	OMIM:277440
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Short tibia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb underg...	OMIM:118651
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho...	OMIM:601706
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation	ORPHA:35737
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Mcdonough Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Micrognathia, Open bite, Cryptorchidism...	ORPHA:2471
Zimmermann-Laband Syndrome	Micrognathia, Large fleshy ears, Overtubulated long bones, High palate, Absent fingernail, Bifid ...	ORPHA:3473
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Kohlschutter-Tonz Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, Cerebellar hypop...	OMIM:226750
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Short hallux, Limitation of joint mobility, Ectopic ossification in liga...	ORPHA:337
Rafiq Syndrome	Joint laxity, Thin upper lip vermilion, Broad eyebrow, Joint hypermobility, Highly arched eyebrow...	OMIM:614202
Coffin-Siris Syndrome 2	Low anterior hairline, High palate, Short philtrum, Dandy-Walker malformation, Cryptorchidism, Se...	OMIM:614607
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Posteriorly rotated ears, Decreased fibular diameter, ...	OMIM:616897
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Ank...	OMIM:602483
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Cerebrooculofacioskeletal Syndrome 1	Micrognathia, Flexion contracture, Abnormality of the ear, Knee flexion contracture, Cryptorchidi...	OMIM:214150
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Seizure, Increa...	OMIM:119540
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Coloboma, Microphthalmia	OMIM:613153
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, Oligodontia, Short p...	ORPHA:391408
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Ankyloblepharon, Sclerocornea	OMIM:611038
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Cat-Eye Syndrome	Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Microcephaly 17, Primary, Autosomal Recessive	Low anterior hairline, Seizure, Thick vermilion border, Cerebellar hypoplasia, Macrotia	OMIM:617090
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Oliver-Mcfarlane Syndrome	Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Retinal degeneration	OMIM:275400
L-Ferritin Deficiency	Alopecia	OMIM:615604
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical...	OMIM:613573
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal fingernai...	ORPHA:2325
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno...	ORPHA:248
Brittle Cornea Syndrome 1	Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, R...	OMIM:229200
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Deep-set nails, Overlapping toe, Posteriorly rotated ears, Micrognathia, Wide a...	OMIM:201170
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Cataract, Rhegmatog...	ORPHA:891
Weill-Marchesani Syndrome 3	Shallow anterior chamber, Microspherophakia, Ectopia lentis	OMIM:614819
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Pr...	ORPHA:2251
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Abnormal fingernail morphology, Open bite, Den...	ORPHA:3079
Christianson Syndrome	Mandibular prognathia, Cerebellar atrophy, Generalized-onset seizure, Joint hyperflexibility, Apl...	ORPHA:85278
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Micrognathia, Generalized clonic seizure, Deep philtrum, De...	ORPHA:329178
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Bilateral tonic-clonic seizure, Fine hair, Cerebellar hypoplasia, Macr...	OMIM:272300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Dandy-Walker m...	OMIM:616300
Gómez-López-Hernández Syndrome	Telecanthus, Corneal opacity	ORPHA:1532
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Cerebellofaciodental Syndrome	Pes planus, Tapered finger, Sparse eyebrow, Hypoplasia of the pons, Cryptorchidism, Dental malocc...	OMIM:616202
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Hall-Riggs Syndrome	Metaphyseal dysplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Sei...	OMIM:234250
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea...	OMIM:608470
Intermediate Generalized Junctional Epidermolysis Bullosa	Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Nail...	ORPHA:79402
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Coffin-Siris Syndrome 3	High palate, Dandy-Walker malformation, Joint laxity, Seizure, Thick vermilion border, Umbilical ...	OMIM:614608
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Proximal placement of thumb, Sparse hair, Diastema, Gingival o...	OMIM:212066
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ...	ORPHA:251028
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Microdontia,...	OMIM:129400
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Thin upper lip vermilion, Osteopenia, Dental crowding, Sandal gap, Posteriorly ...	OMIM:617877
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Dental malocclusion, Seizure,...	ORPHA:1858
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Cataract, Retinal dystrophy	OMIM:615995
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Cerebellar atrophy, Brachydactyly, Dental crowding, Hearing impairment...	OMIM:616354
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham...	ORPHA:42665
Gomez-Lopez-Hernandez Syndrome	Fusion of the cerebellar hemispheres, Alopecia, Cerebellar vermis hypoplasia, Agenesis of cerebel...	OMIM:601853
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v...	ORPHA:94058
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Alopecia totalis, Abnormality of the nail	OMIM:302000
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Pes planus, Decreased testicular size, Inguinal hernia, Abn...	ORPHA:10
Microphthalmia With Brain And Digit Anomalies	Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Mic...	ORPHA:139471
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Hamamy Syndrome	Osteopenia, Micrognathia, Microcytic anemia, High palate, Sparse hair, Clinodactyly of the 5th fi...	OMIM:611174
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Syndactyly, Palmoplantar keratoderma, Sparse hair, Enamel hypoplasia, M...	OMIM:613576
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Cofs Syndrome	Optic atrophy, Microphthalmia, Cataract, Abnormality of retinal pigmentation	ORPHA:1466
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi...	OMIM:166750
Fried Syndrome	Abnormal cerebellum morphology, Hydrocephalus, High palate, Short philtrum, Macrotia, Hearing imp...	ORPHA:85335
Choroidal Dystrophy, Central Areolar, 1	Choriocapillaris atrophy, Chorioretinal atrophy, Pigmentary retinopathy	OMIM:215500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Generalized myoclonic seizure, Abnormal pinna morphology, Tapered finge...	ORPHA:352530
Maxillonasal Dysplasia, Binder Type	Large earlobe, Dental malocclusion, Short distal phalanx of finger	OMIM:155050
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Chiar...	OMIM:182212
Exudative Vitreoretinopathy 5	Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T...	OMIM:613310
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Sparse scalp hair, Abnormal fingernail morphology, Hearing imp...	ORPHA:2701
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of the primary ...	OMIM:257850
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Micrognathia, Senso...	OMIM:215100
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Brachydactyly, Sandal gap, Abnormal pinna morpho...	OMIM:617475
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Trichorhinophalangeal Syndrome Type 1	Micrognathia, Short metatarsal, Protruding ear, High palate, Clinodactyly of the 5th finger, Spar...	ORPHA:77258
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro...	ORPHA:2026
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp...	ORPHA:251393
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Epicanthus, Abnormal retinal vascular morphology, Synophrys,...	ORPHA:1390
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa va...	OMIM:608940
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Intellectual Developmental Disorder, Autosomal Dominant 65	Short palm, Tented upper lip vermilion, Posteriorly rotated ears, Infantile spasms, Micrognathia,...	OMIM:619320
Larsen-Like Syndrome	Joint laxity, Wide anterior fontanel, Conductive hearing impairment, Dental malocclusion, Cleft p...	OMIM:608545
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Synophrys, Low anterior hairline, Protruding ear, Downturned corners of mouth, Clinodactyly of th...	ORPHA:329224
Femoral-Facial Syndrome	Thin upper lip vermilion, Inguinal hernia, Short femur, Micrognathia, Cryptorchidism, Cleft palat...	ORPHA:1988
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee...	OMIM:305620
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia, Amelogenesis imperfecta	ORPHA:79129
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Cerebellar atrophy, Exaggerated cupid's bow, Rocker bottom foot, Posteriorly rotated ears, Wide m...	OMIM:618506
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Protruding ear, Sparse hair, Dystrophic fin...	ORPHA:3253
Chung-Jansen Syndrome	Joint hypermobility, Micrognathia, Tapered finger, Cryptorchidism, Synophrys, Large earlobe, Hip ...	OMIM:617991
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Epicanthus, Cataract, Chorioretinal coloboma	ORPHA:2489
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Sparse scalp hair, Thick eyebrow, Posteriorly rotated ears, Sagittal cr...	OMIM:618027
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Renpenning Syndrome	Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Macrodontia, Joint stiffness, Abn...	ORPHA:3242
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Momo Syndrome	Delayed eruption of teeth, Underfolded helix, Hyperconvex nail, Thick lower lip vermilion, Dental...	ORPHA:2563
Otoonychoperoneal Syndrome	Hip contracture, Posteriorly rotated ears, Ankle flexion contracture, Aplasia/Hypoplasia of the f...	OMIM:259780
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hype...	ORPHA:3416
Microphthalmia, Syndromic 5	Cataract, Anophthalmia, Optic nerve hypoplasia, Retinal dystrophy, Microcornea, Coloboma, Microph...	OMIM:610125
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M...	ORPHA:290
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth tongue, Sparse hair...	OMIM:601559
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy	ORPHA:3156
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Ulnar deviation of the hand, Posteriorly rotated ears, Congenital diaphragmatic hern...	OMIM:263210
Man1B1-Cdg	Thin upper lip vermilion, Joint hypermobility, Long eyebrows, Sparse eyebrow, Abnormal position o...	ORPHA:397941
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Nail-Patella Syndrome	Keratoconus, Ptosis, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Sensorineural heari...	ORPHA:2790
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Posteriorly rotated ears, Short hallux, Supernumerar...	ORPHA:3224
Schuurs-Hoeijmakers Syndrome	Thin upper lip vermilion, Pes planus, Highly arched eyebrow, Diastema, Cryptorchidism, Synophrys,...	OMIM:615009
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Posteriorly rotated ears, Osteoporosis...	OMIM:614727
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Frontofacionasal Dysplasia	Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Ab...	ORPHA:1791
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Iris coloboma	OMIM:615147
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to...	ORPHA:2228
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Microphthalmia, Axi...	OMIM:619339
Scheie Syndrome	Corneal opacity, Retinal degeneration	OMIM:607016
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Osteoporosis, Pseudohypoparathyroi...	OMIM:612463
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion, High palate	OMIM:618292
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Thin upper lip vermilion, Tapered finger, Synophrys, Wide mouth, Seizure, Wid...	OMIM:616212
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Synophrys, Downturned corners of mouth, Short philtrum, Widely space...	OMIM:616737
Braddock-Carey Syndrome 1	Curly hair, Posteriorly rotated ears, Clinodactyly, Pierre-Robin sequence, Small hand, Cleft pala...	OMIM:619980
Temtamy Syndrome	Microphthalmia, Telecanthus, Iris coloboma, Chorioretinal coloboma	ORPHA:1777
Macdermot-Winter Syndrome	Posteriorly rotated ears, Camptodactyly of finger, Highly arched eyebrow, Low anterior hairline, ...	OMIM:247990
Filippi Syndrome	Cerebellar atrophy, 2-4 toe syndactyly, Cryptorchidism, Hypertrichosis, Cutaneous syndactyly, Fin...	OMIM:272440
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Bjornstad Syndrome	Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int...	OMIM:262000
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Kabuki Syndrome 2	Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Joint laxity, Highly arched ...	OMIM:300867
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Posteriorly rotated ears, Reduced bone mineral density, Delayed ossification of ...	OMIM:618392
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh...	ORPHA:79098
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Cranial hy...	ORPHA:457240
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye...	ORPHA:73
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E...	ORPHA:2788
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal trabecular ...	ORPHA:79106
Nicolaides-Baraitser Syndrome	High, narrow palate, Abnormal finger morphology, Hernia, Short palm, Sparse hair, Alopecia, Highl...	ORPHA:3051
Oculomaxillofacial Dysostosis	Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis...	ORPHA:1794
Intellectual Developmental Disorder, X-Linked 9	Seizure, Macrotia, Thick lower lip vermilion, Short distal phalanx of finger	OMIM:309549
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Cranioectodermal Dysplasia 4	Joint hypermobility, Sagittal craniosynostosis, Onychogryposis, Protruding ear, Hip dysplasia, Th...	OMIM:614378
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum, Small nail	OMIM:300210
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Slc35A2-Cdg	Cerebellar atrophy, Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis...	ORPHA:356961
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Thickened cortex of long bones, Hypoplastic frontal sinu...	OMIM:253250
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Increased bone mineral density, Sensorineural heari...	ORPHA:3152
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Attached earlobe, Micrognathia, Diastema, Dental malocclusion, Low-set ears, Malar flattening, Ma...	ORPHA:436245
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased response to growth hormone stimulation test, Micrognath...	ORPHA:2980
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Pes planus, Joint laxity, Cerebellar vermis hypoplasia, Genu recurvatum, B...	ORPHA:364028
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph...	ORPHA:209956
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Coloboma, Shallow orbits, Microphthalmia, G...	OMIM:617306
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl...	ORPHA:63442
Oliver Syndrome	Mandibular prognathia, Bilateral tonic-clonic seizure, Camptodactyly of finger, Supernumerary nip...	ORPHA:2920
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Fle...	ORPHA:88630
Charlie M Syndrome	Finger syndactyly, Abnormal fingernail morphology, Micrognathia, Non-midline cleft lip, Split han...	ORPHA:1406
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing,...	OMIM:277590
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti...	ORPHA:2222
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Pes planus, Cerebellar atrophy, Posteriorly rotated ears, Joint hypermobil...	OMIM:617804
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Orofaciodigital Syndrome Type 2	Micrognathia, Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Sh...	ORPHA:2751
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr...	OMIM:264700
Adams-Oliver Syndrome 2	Alopecia, Micrognathia, Hydrocephalus, Low anterior hairline, Protruding ear, Retrocerebellar cys...	OMIM:614219
Pontocerebellar Hypoplasia, Type 3	Cerebellar atrophy, Hypoplasia of the pons, High, narrow palate, Downturned corners of mouth, Sei...	OMIM:608027
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Intellectual Developmental Disorder, Autosomal Recessive 48	Mandibular prognathia, Macrotia, Small hand, Long philtrum	OMIM:616269
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Alopecia, Short metacarpal, Pes planus, Inguinal hernia, Craniosyn...	ORPHA:166035
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia, Short palpebral fissure, Blepharophimosis	OMIM:601349
Nance-Horan Syndrome	Microcornea, Microphthalmia, Retinal detachment, Cataract	ORPHA:627
Ck Syndrome	Dental crowding, Posteriorly rotated ears, Micrognathia, Seizure, High palate, Malar flattening, ...	OMIM:300831
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Developmental And Epileptic Encephalopathy 64	Thin upper lip vermilion, Thick eyebrow, Highly arched eyebrow, Micrognathia, Sparse eyebrow, Thi...	OMIM:618004
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Congenital hip dislocation, Abnormal pinna morphology, Rocker bottom fo...	ORPHA:3078
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Sparse hair...	OMIM:164200
Kniest Dysplasia	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ...	ORPHA:485
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Micrognathia, Knee flexion contracture, Seizure, Widely spaced teeth, Cam...	OMIM:619694
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn...	OMIM:602499
Cleft Palate-Large Ears-Small Head Syndrome	Micrognathia, Hypoplastic toenails, Gingival overgrowth, Cleft palate, Ulnar deviation of finger,...	ORPHA:2013
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stip...	ORPHA:177
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, G...	ORPHA:3019
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal erosion, Macular dege...	ORPHA:816
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Epicanthus, Keratoglobus, Astigmatism, Blepharo...	OMIM:108145
Acrofacial Dysostosis, Weyers Type	Abnormal fingernail morphology, Abnormality of the dentition, Conical tooth, Hypoplastic toenails...	ORPHA:952
Galloway-Mowat Syndrome 8	Abnormal cerebellum morphology, Enamel hypoplasia, Seizure, Hearing impairment	OMIM:618349
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long e...	OMIM:615877
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio...	OMIM:613154
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fu...	OMIM:135100
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic fingernails, Dys...	ORPHA:1882
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Micrognathia, Sparse eyebrow, Tapered finger, Hypoplasia...	ORPHA:444072
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Broad hallux, High, narrow palate, Low-set ears, Hypermobility of interphalangeal joints, Malar f...	ORPHA:3433
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl...	OMIM:619719
Monosomy 18P	Alopecia, Micrognathia, Carious teeth, Cleft palate, Low posterior hairline, Downturned corners o...	ORPHA:1598
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia, Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Thin bony cort...	OMIM:600785
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Osteopenia, Generalized-onset seizure, Sparse eyebrow, High, narrow palate, Thick lower lip vermi...	OMIM:617268
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Neoplasm of the pancreas, Alopecia, Brachydactyly, Multiple joint contractures, Selec...	ORPHA:2959
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Congenital Disorder Of Glycosylation, Type Iy	Micrognathia, Wide mouth, Seizure, Widely spaced teeth, Clinodactyly, Macrotia	OMIM:300934
Kbg Syndrome	Thin upper lip vermilion, Vertebral fusion, Macrodontia, Abnormal hair pattern, Cryptorchidism, S...	ORPHA:2332
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Absent gallbladder, Abnormal pinna morphology, Hamartoma of tongue, Micrognathia, Po...	OMIM:617925
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Harel-Yoon Syndrome	Upslanted palpebral fissure, Optic atrophy, Corneal opacity, Developmental cataract	OMIM:617183
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Congenital Disorder Of Glycosylation, Type Id	Cerebellar atrophy, Long fingers, Flexion contracture, Seizure, Joint contracture of the hand, Hi...	OMIM:601110
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Long eyebrows, Tapered finger, Long fingers, Thick lower lip vermilion, Prominent antihelix, Join...	OMIM:614407
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola...	ORPHA:2972
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Long toe, Osteopenia, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, M...	ORPHA:79405
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Narrow palate, Protruding ear, Seizure, Talipes equinovarus, Joint contractur...	OMIM:617481
Fanconi Anemia, Complementation Group S	Macrodontia, Proximal placement of thumb, Low anterior hairline, Dental malocclusion, Narrow pala...	OMIM:617883
49,Xxxxy Syndrome	Mandibular prognathia, Holoprosencephaly, Clinodactyly of the 5th finger, Chronic otitis media, A...	ORPHA:96264
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Palmoplantar hyperkeratos...	OMIM:226670
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal fingerna...	ORPHA:3220
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Carious teeth, Atrophic scars, Nail dystrophy, Nail dysplasia, Enamel hypoplasia	OMIM:226700
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Coxa valga, Ca...	OMIM:269300
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Intellectual Developmental Disorder, X-Linked 101	Seizure, Clinodactyly, Macrotia, Short philtrum	OMIM:300928
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ...	OMIM:167730
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
48,Xxxy Syndrome	Mandibular prognathia, Clinodactyly of the 5th finger, Chronic otitis media, Abnormal dental enam...	ORPHA:96263
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hearing impairment, Split hand, Flexion contracture, Seizure, Macrot...	ORPHA:2850
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Kerion Celsi	Alopecia	ORPHA:499
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m...	ORPHA:94068
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros...	OMIM:616331
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa...	ORPHA:1106
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto...	ORPHA:137888
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Curly hair, Increased bone mineral density, Thin bony corte...	ORPHA:85184
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Sparse scalp hair, Pes planus, Sparse eyelashes, Cerebellar vermis hypoplasia, Sagit...	OMIM:616901
8P Inverted Duplication/Deletion Syndrome	Frontal balding, Micrognathia, Cryptorchidism, High, narrow palate, Synophrys, Long fingers, Abno...	ORPHA:96092
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, High palate, Conductive hearing impa...	OMIM:102500
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Tapered finger, Cryptorchidism, Synophrys, Generalized joint laxity, 2-3 toe syndactyly, Seizure,...	ORPHA:589905
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, M...	ORPHA:79406
Gombo Syndrome	Microphthalmia	OMIM:233270
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Seizure, Macrotia, Micrognathia	ORPHA:397933
Moynahan Syndrome	Sparse hair, Alopecia, Short stature	ORPHA:2574
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Developmental And Epileptic Encephalopathy 66	Cerebellar vermis hypoplasia, Clonic seizure, Synophrys, Myoclonic seizure, Downturned corners of...	OMIM:618067
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus	ORPHA:1064
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Downslanted palpeb...	OMIM:602562
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Chromosome 3Q29 Deletion Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Tapered finger, Long fingers, Short philtrum,...	OMIM:609425
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Ritscher-Schinzel Syndrome 4	Curly hair, Ulnar deviation of the hand, Bilateral tonic-clonic seizure, Joint hypermobility, Tap...	OMIM:619435
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Hearing impairment, Micrognathia, Tapered finger, Synophrys, Macrotia, Narrow palate, Hypoplasia ...	OMIM:620250
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Cryptorchidism, Hydrocephalus, Flexion contracture, Dental malocclusion, Slender ...	OMIM:310400
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Alopecia, Brachydactyly, Abnormal dental en...	ORPHA:1005
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Cerebellar vermis hypoplasia, High, narrow palate, Synophrys, Prominent protruding co...	OMIM:300966
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Juvenile cataract	ORPHA:1264
17Q11.2 Microduplication Syndrome	Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Seizure, Thin vermilion bord...	ORPHA:139474
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S...	OMIM:234100
Walker-Warburg Syndrome	Retinal detachment, Anophthalmia, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dys...	ORPHA:899
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Redu...	OMIM:617052
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Developmental cataract	OMIM:618815
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Lipoatrophy,...	ORPHA:1133
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion	OMIM:608931
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Flexion contracture of finger, Cryptorchidism, Macrotia, Bilateral talipes equinovarus, Long phil...	ORPHA:319332
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Abnormality of the subungual region, Atrophic scars, Palmop...	ORPHA:79411
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Bilateral tonic-clonic seizure, Metaphyseal sclerosis, Macrot...	ORPHA:2976
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Pseudohyp...	OMIM:103580
Alpha-Methylacyl-Coa Racemase Deficiency	Rod-cone dystrophy, Cataract, Pigmentary retinopathy	OMIM:614307
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Sparse h...	ORPHA:2985
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conduct...	OMIM:277170
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Bilateral tonic-clonic seizure with generalized onset, Focal-onset se...	OMIM:619092
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Ptosis	ORPHA:44
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Dental malocclusion, Overfolded helix, Seizure, Clinodactyly of the 5th...	OMIM:619149
Aarskog-Scott Syndrome	Genu recurvatum, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly of the 5th ...	ORPHA:915
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Mandibular prognathia, Cerebellar atrophy, Photosensitive tonic-clonic seizure, Abnormal foot mor...	OMIM:300243
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve...	ORPHA:56304
Erythrokeratodermia Variabilis	Irregular hyperpigmentation, Cataract, Corneal opacity, Hypermelanotic macule	ORPHA:317
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Chiari type I mal...	OMIM:101200
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa...	OMIM:129500
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Smith-Magenis Syndrome	Mandibular prognathia, Pes planus, Tented upper lip vermilion, Toe syndactyly, Delayed eruption o...	ORPHA:819
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den...	ORPHA:659
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d...	OMIM:616188
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Overlapping toe, Down-sloping shoulders, Highly arched eyebrow, Tapered...	OMIM:617452
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Dystrophic fingern...	OMIM:619787
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cataract, Optic disc pallor	OMIM:613730
Temtamy Syndrome	Highly arched eyebrow, Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Dow...	OMIM:218340
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Sparse hair, Microdon...	ORPHA:221016
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Cone-shaped epiphysis,...	ORPHA:71267
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Abruzzo-Erickson Syndrome	Epicanthus, Microcornea, Coloboma, Chorioretinal coloboma, Iris coloboma	ORPHA:921
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Gnathodiaphyseal Dysplasia	Broad jaw, Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T...	ORPHA:53697
Localized Scleroderma	Abnormal skin adnexa morphology, Fasciitis, Abnormality of the dentition, Flexion contracture, De...	ORPHA:90289
48,Xyyy Syndrome	Pes planus, Abnormal foot morphology, Thick lower lip vermilion, Irregularly spaced teeth, Radiou...	ORPHA:99329
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Micrognathia, Flexion contracture, Patellar hypoplasia, Protruding ear, Macrotia	OMIM:251240
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like meta...	ORPHA:289157
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Wide anterior fontanel, Cleft pa...	OMIM:619736
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Flexion contracture of finger, Abnormal dental morphology, Interphalang...	ORPHA:69087
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Inguinal hernia, Mic...	OMIM:613848
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, Cl...	OMIM:115150
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Snijders Blok-Campeau Syndrome	Joint laxity, Inguinal hernia, Infantile spasms, Abnormal foot morphology, Myoclonic seizure, Tau...	OMIM:618205
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, Protruding ear, High palate, Short palm, Short phalanx of finger, Corti...	OMIM:249420
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract, Long eyelashes	ORPHA:48431
Corneal Dystrophy, Gelatinous Drop-Like	Corneal dystrophy	OMIM:204870
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Deep philtrum, Synophrys, Hydrocephalus, Orofacial cle...	OMIM:609637
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Upslanted palpebral fissure	ORPHA:496790
Hall-Riggs Syndrome	Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Join...	ORPHA:2107
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Abnormality of the dentition, Conductive hearing impairment, Clinodactyly,...	ORPHA:557003
Mandibulofacial Dysostosis With Alopecia	Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hyp...	OMIM:616367
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Microdontia, Short ph...	ORPHA:221008
Blepharoptosis, Myopia, And Ectopia Lentis	Congenital ptosis, Increased axial length of the globe, Ectopia lentis	OMIM:110150
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Abnormal pinna morphology, Inguinal ...	OMIM:123450
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Protruding ear, Inc...	ORPHA:481152
Lissencephaly 8	Microphthalmia, Cataract, Optic atrophy	OMIM:617255
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Synophrys, Flexion contracture, Downturn...	ORPHA:487796
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Large fleshy ears, Seizure, Short philtrum, Cerebellar hypoplasia, Everted lower lip vermilion, L...	OMIM:619556
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Micrognathia, Osteoarthritis, Generalized joint laxity, Knee dislocation, Shoulder di...	OMIM:618000
Turnpenny-Fry Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Prominent interphalangeal j...	OMIM:618371
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephaloc...	OMIM:108720
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Talipes,...	ORPHA:1647
Woolly Hair	Hypopigmentation of hair, Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Spars...	ORPHA:170
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia	OMIM:300484
Trisomy 20P	Micrognathia, Low anterior hairline, Reduced bone mineral density, Downturned corners of mouth, P...	ORPHA:261318
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli...	OMIM:300373
Trichorhinophalangeal Syndrome, Type Iii	Short palm, Thin upper lip vermilion, Short metacarpal, Brachydactyly, Dental crowding, Osteopeni...	OMIM:190351
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Talipes calcaneovalgus...	ORPHA:2614
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Brittle hair, Dental crowding, Joint hypermobility, Joint stiffness, Tracheobro...	OMIM:619184
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate...	OMIM:268305
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Micrognathia, Dental malocclusion, Wide mouth, Seizure, H...	OMIM:610883
Trichothiodystrophy	Ridged nail, Osteopenia, Brittle hair, Generalized-onset seizure, Multiple joint contractures, Hi...	ORPHA:33364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration	OMIM:615249
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hearing impairment, Hypoplastic ilia, Wide ant...	ORPHA:1860
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr...	ORPHA:2863
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Optic atrophy, Coloboma	OMIM:274270
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Abnormal epiphysis morphology, Neutropenia, Enamel hypoplasia, Brach...	ORPHA:2643
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv...	ORPHA:2025
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Highly arched eyebrow, Abnormality ...	OMIM:615802
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Hearing i...	OMIM:614856
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopath...	OMIM:305600
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e...	OMIM:300534
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp...	OMIM:618727
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone...	OMIM:133540
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Microtia, Increased overbite...	OMIM:618761
Flynn-Aird Syndrome	Alopecia, Joint stiffness, Carious teeth, Bone cyst, Seizure, Progressive sensorineural hearing i...	ORPHA:2047
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor...	ORPHA:1077
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Camptodactyly of finger, Micromelia, Abnormal enchondral ossif...	ORPHA:2635
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Orofaciodigital Syndrome I	Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Syndactyly, Alopecia, Ha...	OMIM:311200
Squalene Synthase Deficiency	Posteriorly rotated ears, Micrognathia, Bilateral cryptorchidism, Macrotia, Elbow flexion contrac...	OMIM:618156
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,...	ORPHA:42775
Acrocraniofacial Dysostosis	Micrognathia, Short philtrum, Triphalangeal thumb, Abnormality of the malleus, Conductive hearing...	ORPHA:949
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Abnormal pinna...	ORPHA:93333
Sialidosis Type 2	Corneal opacity, Abnormal macular morphology	ORPHA:87876
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Joint laxity, Inguinal hernia, Lipodystrophy, Lipo...	OMIM:269880
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Genu recurvatum, Camptodactyly...	ORPHA:137834
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Thin upper lip vermilion, Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly...	ORPHA:505237
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,...	ORPHA:181
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, High palate, Microdontia, Long h...	OMIM:259775
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ...	OMIM:265000
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Micrognathia, Synophrys, Low anterior hairline, Oligodontia, High palate, Short ...	OMIM:617061
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Natal tooth, Ankle flexion contracture, Micrognathia, Focal-onset seizure, Se...	OMIM:617802
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Cerebellar atrophy, Inguinal hernia, Splenomegaly, Sensorineural hearing i...	OMIM:248500
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl...	OMIM:614592
Scarf Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Craniosynostosis, Cryptorchidism, Low posteri...	ORPHA:3134
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per...	ORPHA:1775
Den Hoed-De Boer-Voisin Syndrome	Widely spaced teeth, Amelogenesis imperfecta, 2-3 toe syndactyly, Nocturnal seizures, Seizure, My...	OMIM:619229
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, Dental malocclusion, 2-3 finger syndactyly...	OMIM:269500
Harrod Syndrome	Arachnodactyly, Cryptorchidism, Dental malocclusion, Protruding ear, Abnormal shoulder morphology...	ORPHA:2115
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Retinal dystrophy, Developmental cataract	OMIM:613155
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Febrile seizure (within the age range of 3 months to 6 years...	OMIM:613026
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone...	OMIM:216400
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Postaxial polydactyly...	OMIM:258860
Distal Deletion 10P	Low-set, posteriorly rotated ears, Abnormal fingernail morphology, Micrognathia, Hypoplastic toen...	ORPHA:1580
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Clinodactyly of th...	ORPHA:2108
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, High ...	OMIM:268400
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Low anterior hairline, Coxa vara, High palate, Wrist flexion contractur...	ORPHA:800
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat...	OMIM:209885
Momo Syndrome	Delayed eruption of teeth, Underfolded helix, Hyperconvex nail, Thick lower lip vermilion, Dental...	OMIM:157980
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Tapered toe, Non-convulsive status...	ORPHA:544488
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal...	ORPHA:90354
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, Blepharophimosis,...	ORPHA:494344
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cr...	ORPHA:3363
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma	ORPHA:1643
X-Linked Intellectual Disability, Najm Type	Micrognathia, Sensorineural hearing impairment, Seizure, Cerebellar hypoplasia, Long philtrum, Ma...	ORPHA:163937
Abruzzo-Erickson Syndrome	Cleft palate, Protruding ear, Radioulnar synostosis, Macrotia, Hearing impairment	OMIM:302905
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Highly arched eyebrow, Micrognathia, Postaxial polydactyly, Macrotia, Preaxial p...	OMIM:618142
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Aqu...	OMIM:251230
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re...	OMIM:615113
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Mehmo Syndrome	Decreased response to growth hormone stimulation test, Cleft lip, Cleft palate, Seizure, Widely s...	OMIM:300148
Neu-Laxova Syndrome	Osteopenia, Micromelia, Micrognathia, Flexion contracture, Bifid uvula, Dandy-Walker malformation...	ORPHA:2671
Hypomelanosis Of Ito	Syndactyly, Alopecia, Thick lower lip vermilion, Irregularly spaced teeth, Seizure, Hand polydact...	OMIM:300337
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Down-sloping shoulders, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Fine hair...	OMIM:616817
Pontocerebellar Hypoplasia, Type 7	Micrognathia, Hypoplasia of the pons, Cryptorchidism, Deep philtrum, Synophrys, Hydrocephalus, Se...	OMIM:614969
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Carious teeth, Yellow nails, Conical incisor, Onycholysis, Nail dystrophy,...	OMIM:614564
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin...	ORPHA:199306
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Abnormal foot morphology, Clinodactyly, Cryptorchidism, Low an...	ORPHA:369891
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Overfolding of the superior helices, Extramedullary hematopoiesis, Hypop...	ORPHA:313855
Three M Syndrome 2	Delayed eruption of teeth, Dental malocclusion, Protruding ear, Prominent calcaneus, Slender long...	OMIM:612921
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Coarse metaphyseal trabecularization, Hyperparathyroidism, Osteomalacia, Premature loss...	ORPHA:93160
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Osteoporosis, Pseudohypoparathyroi...	OMIM:612462
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Multiple joint contractures, Congenital diaphragmati...	ORPHA:96170
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short philtrum, High palat...	ORPHA:96121
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Protruding ear, Hyperconvex fingernails, High palate, Widely spaced te...	ORPHA:192
Keratoderma Hereditarium Mutilans	Autoamputation of digits, Alopecia, Sensorineural hearing impairment, Osteolysis, Honeycomb palmo...	ORPHA:494
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Alopecia, Agenesis of cerebellar vermis, Abnormality of the dentition, Conical too...	ORPHA:228390
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary te...	OMIM:620099
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity	OMIM:244600
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormal pinna morphology, Aplasia/Hypoplasia of the cerebellar vermis, P...	ORPHA:75389
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Osteopenia, Micrognathia, Seizure, High palate, Broad thumb, Clinodactyly, Macroti...	OMIM:620194
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Peho Syndrome	Cerebellar atrophy, Infantile spasms, Tapered finger, External ear malformation, Hydrocephalus, F...	ORPHA:2836
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Carious teeth, Scarring alopecia of scalp, Sparse eyebrow, Palmoplant...	OMIM:612843
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Telecanthus, Posterior subcapsular cataract, Chorioretinal degeneration	OMIM:615458
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Optic atrophy, Abnormality of skin pigmentation, Coloboma, Microphthalmia	OMIM:612379
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Posteriorly rotated ears, Camptodactyly of finger, Abnormal hair pattern, Highly arched eyebrow, ...	ORPHA:2083
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Thin upper lip vermilion, Micrognathia, Cryptorchidism, Wide mouth, Seizure, Low-set ears, Joint ...	OMIM:615419
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I...	OMIM:602080
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Grant Syndrome	Bowing of the long bones, Micrognathia, Open bite, Decreased skull ossification, Joint hyperflexi...	ORPHA:2097
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Dental crowding, Decreased ...	OMIM:608612
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Epicanthus, Coloboma, Peters anomaly	OMIM:618652
Frontonasal Dysplasia 1	Epicanthus, Cataract, Coloboma, Microphthalmia, Ptosis	OMIM:136760
Emanuel Syndrome	Broad jaw, Inguinal hernia, Congenital hip dislocation, Dental crowding, Delayed eruption of prim...	OMIM:609029
Ring Chromosome 6 Syndrome	Macrotia, Short distal phalanx of finger, Low posterior hairline	ORPHA:1448
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy...	OMIM:612447
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Microcornea, Microphthalmia,...	ORPHA:2712
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palat...	OMIM:613823
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, White...	ORPHA:79432
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia...	OMIM:212780
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Cleft lip, C...	ORPHA:2890
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Forsythe-Wakeling Syndrome	Low-set ears, Macrotia, Osteoporosis, Thrombocytopenia	OMIM:613606
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Reduced bone mineral density, Lobulated tongue, Coarse hair, High pal...	ORPHA:2750
Distal Monosomy 7Q36	Micrognathia, Cryptorchidism, Non-midline cleft lip, Symphalangism affecting the phalanges of the...	ORPHA:1636
8Q21.11 Microdeletion Syndrome	Ptosis, Epicanthus, Cataract, Corneal opacity, Sclerocornea, Blepharophimosis, Microphthalmia, Do...	ORPHA:284160
Lower Limb Malformation-Hypospadias Syndrome	Low-set, posteriorly rotated ears, Lower limb asymmetry, Abnormality of the spleen, Abnormal tibi...	ORPHA:2487
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Thick eyebrow	ORPHA:585
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Anterior ...	OMIM:601357
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Bilateral tonic-clonic seizure, Hydrocephalus, Generalized non-motor (a...	OMIM:300558
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Nail pits,...	OMIM:127550
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow...	OMIM:301014
Cranioectodermal Dysplasia 1	High, narrow palate, Protruding ear, High palate, Widely spaced teeth, Microdontia, Sparse hair, ...	OMIM:218330
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ...	OMIM:601808
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Nail dystrophy, Cerebellar hypoplasia, Sparse hair, Premature loss of te...	OMIM:616353
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion ...	OMIM:210710
Cednik Syndrome	Abnormality of the dentition, Diffuse palmoplantar hyperkeratosis, Sensorineural hearing impairme...	ORPHA:66631
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Palmoplantar hyperkeratosis, Thick vermilion border, Enamel hypoplasia, Sparse lat...	ORPHA:363523
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Abnormality of skin pigmentation, Keratoc...	ORPHA:1806
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ...	ORPHA:96334
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Myopathy, Myofibrillar, 8	Pes planus, Micrognathia, Distal joint laxity, Achilles tendon contracture, Dental malocclusion, ...	OMIM:617258
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Arthrogryposis multiplex congenita, Macrotia, High palate, Micrognathia	OMIM:608930
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Stickler Syndrome, Type V	Retinal detachment, Cataract, Vitreoretinopathy	OMIM:614284
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Anteverted ears, Protruding ear, Clinodactyly of the 5th finger, Microretr...	ORPHA:459070
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Postaxial polydactyly, Abnormal tongue physiology, Anteverted ears, Wi...	ORPHA:544254
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Low-set, posteriorly rotated ears, Lipoatrophy, Micrognathia, Open bite, ...	ORPHA:2617
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,...	OMIM:100800
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom...	ORPHA:54
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Macrotia, Hypoplasia o...	OMIM:234050
Micro Syndrome	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Micrognathia, Joint stiffness, A...	ORPHA:2510
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Abnormal femoral head morphology, Thrombocytopenia, Focal hemiclo...	ORPHA:1830
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Oral mucosal blisters, Abnormality of the dentition, Nail dystr...	ORPHA:79397
Phelan-Mcdermid Syndrome	Joint hypermobility, Micrognathia, Hypoplastic toenails, Cellulitis, Dental malocclusion, 2-3 toe...	OMIM:606232
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor...	ORPHA:950
Osteogenesis Imperfecta, Type V	Osteopenia, Pes planus, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pe...	OMIM:610967
Proboscis Lateralis	Anophthalmia, Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormali...	ORPHA:141099
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, Low anterior hairli...	OMIM:218000
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Pancytopenia, Postaxial polydactyly, Splenomegaly, Hydrocephalus, Seizure, Hi...	OMIM:614576
Kury-Isidor Syndrome	Finger syndactyly, Alopecia, Tented upper lip vermilion, Brachydactyly, Rocker bottom foot, Proxi...	OMIM:619762
Oculocerebrocutaneous Syndrome	Alopecia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Cleft palate, Seizur...	OMIM:164180
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia, Abnormal pinna morphology, Joint stiffness	ORPHA:2871
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Hypoplastic fingernail, Bilateral tonic-clonic seizure, Hypoplastic ...	OMIM:619356
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Congenital hip dislocation, Bilateral tonic-clonic seizure, Micrognathia, Spa...	ORPHA:496641
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Cryptorchidism, Short toe, Sho...	OMIM:301900
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Sparse eyelashes, Craniosynostosis, Micro...	OMIM:250410
Sotos Syndrome	Mandibular prognathia, High, narrow palate, High palate, Otitis media, Conductive hearing impairm...	OMIM:117550
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Dental crowding, Micrognathia, Cleft hard palate, Synophrys, Conductive hearing impairment, Clino...	OMIM:300990
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Epicanthus, Cataract, Narrow palpebral fissure, Astigmatism, Retinal coloboma, Horizontal eyebrow...	OMIM:618571
Fragile X Syndrome	Mandibular prognathia, Pes planus, Joint laxity, Macroorchidism, postpubertal, Seizure, Macrotia,...	OMIM:300624
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Hypoplasia ...	OMIM:619512
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Lipoatrophy, Micrognathia, Thin vermilion border, Short philtrum, Sparse hair, Macrotia, Aplasia/...	ORPHA:261304
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Omphalocele, Hear...	ORPHA:2484
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velophary...	ORPHA:363444
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Conductive hearing impairment, Pathologic fracture, Prematu...	OMIM:174810
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Small e...	OMIM:264090
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Frontal balding, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Ma...	ORPHA:93945
Liang-Wang Syndrome	Cerebellar atrophy, Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Generaliz...	OMIM:618729
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysi...	ORPHA:166272
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Sandal gap, Malar prominence, Wide mouth, Large earlobe, Joint hyperflexib...	ORPHA:2715
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia	ORPHA:2714
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Oral mucosal blisters, Carious teeth, Atypical scarring of skin, ...	ORPHA:79410
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia, Ulnar deviation of the hand, Limb joint contractur...	OMIM:612079
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Cry...	OMIM:613990
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te...	OMIM:248370
Qazi-Markouizos Syndrome	Tapered finger, High, narrow palate, Cryptorchidism, Hypoplasia of teeth, Seizure, Delayed ossifi...	ORPHA:3010
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Carious teeth, Absent eyelashes, Preaxial hand polydactyly, Conductive ...	ORPHA:2316
Neuhauser Syndrome	Osteopenia, Pes planus, Genu recurvatum, Arachnodactyly, Micrognathia, Cupped ear, Low anterior h...	OMIM:249310
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Taurodontism	Taurodontia	OMIM:272700
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis	OMIM:602400
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Highly arched eyebrow, Persistence of primary teeth, Micrognathia, Sensorineural...	OMIM:618342
Usher Syndrome Type 1	Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea morphology,...	ORPHA:231169
Ohdo Syndrome	Joint laxity, Hearing impairment, Micrognathia, Sparse eyebrow, Abnormal foot morphology, Cryptor...	OMIM:249620
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Dental crowding, Micrognathia, Hypoplasia of the ma...	OMIM:180849
Chromosome 2P16.1-P15 Deletion Syndrome	Thin upper lip vermilion, Arachnodactyly, Posteriorly rotated ears, Metatarsus adductus, High, na...	OMIM:612513
Microcephaly 13, Primary, Autosomal Recessive	Micrognathia, Metaphyseal sclerosis, Tonic seizure, Small hand, Short foot, Cerebellar hypoplasia...	OMIM:616051
Intellectual Developmental Disorder, Autosomal Dominant 7	Hallux valgus, Thin upper lip vermilion, Abnormal pinna morphology, Micrognathia, Thick lower lip...	OMIM:614104
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Small nail, Ca...	OMIM:608257
Scarf Syndrome	Inguinal hernia, Posteriorly rotated ears, Cryptorchidism, Low anterior hairline, Coronal cranios...	OMIM:312830
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, ...	ORPHA:66625
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Cataract, Retinal pigment epithelial mottling, Microphthalmia, Downslanted palpebral ...	OMIM:614105
Retinitis Pigmentosa 66	Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Con...	OMIM:614188
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Sparse facial hair, Sparse axillary hair, Hypoplasia of the maxilla, Sensorineural he...	OMIM:608154
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Craniolenticulosutural Dysplasia	Osteopenia, Brittle hair, Coarse hair, High palate, Sparse hair, Bifid uvula, Joint laxity, Wide ...	OMIM:607812
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Wagro Syndrome	Cataract, Corneal opacity, Aniridia, Downslanted palpebral fissures, Ptosis	OMIM:612469
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Arachnodactyly, Joint hypermobility, Synophrys, Macrotia, Hirsutism, Thin metacarpal ...	ORPHA:2463
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R...	ORPHA:289176
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Upslanted ...	ORPHA:401777
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger...	OMIM:119600
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Pes planus, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Hi...	ORPHA:50814
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Abnormal eyebrow morphology, Palmoplantar keratoderma, Hypodontia, Gen...	ORPHA:1816
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate	OMIM:600252
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Sensorineural hearing impairment, Palmoplantar keratoderma, Nail dystr...	OMIM:616029
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Inguinal hernia, Posteriorly rotated ears, Down-sloping shoulders, ...	OMIM:227330
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract	ORPHA:3085
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:617023
Trisomy 9P	Hypoplastic fingernail, Dental crowding, Hypoplastic toenails, Non-midline cleft lip, Impacted to...	ORPHA:236
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple, Aplasia/Hyp...	ORPHA:1812
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism, Protruding ea...	ORPHA:85279
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Bilateral tonic-clonic seizure, Cryptorchidism, Generalized non-motor (absence) seiz...	OMIM:617798
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Downslanted palpebral fissures, Iris coloboma	ORPHA:251038
Noonan Syndrome 4	Curly hair, Posteriorly rotated ears, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Wide m...	OMIM:610733
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Dental crowding, Lipoatrophy, Increased s...	ORPHA:2457
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato...	OMIM:601812
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsutism, Cone-shape...	OMIM:309350
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Finger syndactyly, Abnormal dental morphology, Selective tooth...	ORPHA:1897
Short Syndrome	Posterior embryotoxon, Telecanthus, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the...	ORPHA:3163
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Hypoplastic toenails...	ORPHA:235
Gm1 Gangliosidosis	Mandibular prognathia, Generalized hirsutism, Bilateral tonic-clonic seizure with generalized ons...	ORPHA:354
Nance-Horan Syndrome	Diastema, Macrotia, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-sh...	OMIM:302350
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Conductive hearing impairment, Fine hair, Aplasia/Hypoplasia o...	ORPHA:3236
Flat Face-Microstomia-Ear Anomaly Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Abnormal oral mucosa morphology, Highly arche...	ORPHA:1968
Pierson Syndrome	Retinal vascular tortuosity, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili...	OMIM:609049
4H Leukodystrophy	Delayed eruption of teeth, Cerebellar atrophy, Decreased response to growth hormone stimulation t...	ORPHA:289494
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse eyelashes, Micrognathia, Spars...	ORPHA:2067
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Orofaciodigital Syndrome Ix	Median cleft lip, Toe syndactyly, Accessory oral frenulum, Abnormality of the dentition, Cleft pa...	OMIM:258865
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Alobar holoprosencephaly, Cryptorchidism, Seizure, High palate, Shor...	OMIM:615433
Bartsocas-Papas Syndrome	Corneal opacity, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Sparse or absent eyelashe...	ORPHA:1234
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Pes planus, Sandal gap, Long fingers, Chiari type I malformation, Macro...	ORPHA:357001
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Aniridia 3	Aniridia, Cataract	OMIM:617142
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Spotty hypopigmentation, Hyperpigmentation of the skin	ORPHA:1867
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Stenosis of the external auditory canal, Atrophic scars, Pa...	ORPHA:79409
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Distal Duplication 5Q	Hypoplasia of the ulna, Brachydactyly, Craniosynostosis, Micrognathia, Carious teeth, Absent thum...	ORPHA:96097
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul...	OMIM:616580
Cohen Syndrome	Pes planus, Short metacarpal, Joint hypermobility, Decreased response to growth hormone stimulati...	OMIM:216550
Heimler Syndrome 1	Sensorineural hearing impairment, Leukonychia, Beau's lines, Enamel hypoplasia, Amelogenesis impe...	OMIM:234580
Refsum Disease	Abnormality of retinal pigmentation, Cataract, Microphthalmia, Retinopathy, Ptosis	ORPHA:773
Microtriplication 11Q24.1	Keratoconus, Synophrys, Upslanted palpebral fissure, Long eyelashes, Thick eyebrow	ORPHA:289522
Char Syndrome	Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per...	ORPHA:46627
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,...	ORPHA:439822
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Pancytopenia, Micrognathia, Abnormality of the dentition, Cryptorchidism, Sensorineural hearing i...	ORPHA:85321
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Warburg Micro Syndrome 3	Bilateral tonic-clonic seizure, Micrognathia, Flexion contracture, Low anterior hairline, Narrow ...	OMIM:614222
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Retinal detachment, Cataract, Poliosis, Abnormal eyelash morphology,...	ORPHA:3437
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Nanophthalmos 4	Microphthalmia	OMIM:615972
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Developmental And Epileptic Encephalopathy 49	Tented upper lip vermilion, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic s...	OMIM:617281
Say-Barber-Miller Syndrome	Micrognathia, Patellar hypoplasia, Knee flexion contracture, Abnormal T cell morphology, Protrudi...	ORPHA:3132
Intellectual Developmental Disorder, X-Linked 107	Mandibular prognathia, Thin upper lip vermilion, Prominent crus of helix, Seizure, Abnormality of...	OMIM:301013
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Hypopigmented skin patches, Iris coloboma	ORPHA:1553
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Neuroocular Syndrome	Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hooded upper eyelid, Hypoplasia of the fove...	OMIM:619539
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Conductive hea...	OMIM:600373
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Highly arched eyebrow, Abnormal optic disc morphology, Congenital stationary night blindness, Dec...	ORPHA:293967
Epidermolysis Bullosa, Junctional 5A, Intermediate	Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope...	OMIM:619816
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Optic atrophy, Coloboma, Spotty hyperpigmentation, Rod-cone dyst...	ORPHA:324737
Hurler-Scheie Syndrome	Corneal opacity	ORPHA:93476
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Widened atrophic scar, Micrognathia, Equinus calcaneus, Knee dislocation, Shoulder di...	ORPHA:536532
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi...	ORPHA:534
Alg9-Cdg	Micrognathia, Large fleshy ears, Narrow greater sciatic notch, Abnormal bone ossification, Bifid ...	ORPHA:79328
Frontofacionasal Dysplasia	Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures...	OMIM:229400
Atkin-Flaitz Syndrome	Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism...	ORPHA:1193
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Tapered finger, Wide mouth, Se...	OMIM:618825
Osteoglosphonic Dysplasia	Inguinal hernia, Rhizomelia, Craniosynostosis, Micrognathia, Cryptorchidism, Protruding ear, Toot...	ORPHA:2645
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Posteriorly rotated ears, Micrognathia...	ORPHA:2780
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Syndactyly, Abnormality of the dentition, Cryptorchidism, Wide mouth, Thic...	OMIM:618505
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decr...	ORPHA:1855
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Hypopituitarism, Tubulonodular pericallosal lipoma, Cleft upper lip, C...	OMIM:603671
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Shaheen Syndrome	Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis	OMIM:615328
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, High anterior hai...	OMIM:613680
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cranial hyperostosis, Hypoplast...	OMIM:601345
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Short ...	OMIM:612731
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Alopecia, Abnormality of dental color, Recurrent fractures, Abnormal toe morphology, ...	OMIM:163200
Cutis Laxa, Autosomal Recessive, Type Iia	Pes planus, Inguinal hernia, Brittle hair, Congenital hip dislocation, Joint hypermobility, Lipod...	OMIM:219200
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Pes planus, Communicating hydrocephalus, Cerebellar atrophy, Arachnodactyl...	OMIM:617011
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Micrognat...	ORPHA:363528
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Sparse eyelashes, Sparse eyebrow, Bilateral cleft lip and palate, Seizu...	OMIM:618874
Incontinentia Pigmenti	Abnormal hand morphology, Orofacial cleft, Abnormal toenail morphology, Spina bifida occulta, Abn...	ORPHA:464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Optic atr...	OMIM:236670
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Congenital hip dislocation, Cryptorchidism, Hip dislocation, Seizure, Talipes eq...	OMIM:219150
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Pigmentary retinopathy, Rod-con...	OMIM:609033
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Arachnodactyly, Micrognathia, Narrow mouth, Calcaneovalgus deformity, Adducted thumb...	ORPHA:562528
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Lacrimal duct atresia, Iris coloboma	ORPHA:139450
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Tapered finger, Hypoplastic toenails, Splenomegaly, Hyp...	ORPHA:2930
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus	OMIM:620058
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence...	ORPHA:97360
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Sclerocornea, Pigmentary retinopathy, Microphthalmia, Downslanted palpebral...	OMIM:614230
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Abnormal finger morphology, Sparse or absent eyelashes, Coarse...	ORPHA:113
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Corneal opacity, Optic atrophy, Developmental cataract, Yellow...	ORPHA:93400
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Intellectual Developmental Disorder, X-Linked 97	Synophrys, Macrotia	OMIM:300803
Histidinuria Due To A Renal Tubular Defect	Smooth philtrum, Thin upper lip vermilion, Hypoplastic toenails, Sensorineural hearing impairment...	OMIM:235830
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Cataract 47	Microcornea, Cataract	OMIM:612018
Ring Chromosome 14 Syndrome	Epicanthus, Almond-shaped palpebral fissure, Pigmentary retinopathy, Blepharophimosis, Downslante...	OMIM:616606
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Micrognathia, Congenital sensorineural hearing impairment, Sensorineur...	ORPHA:73272
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Mixed hearing impairment, Flared metaphysis, Delaye...	OMIM:218400
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over...	ORPHA:2027
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Inguinal hernia, Posteriorly rotated ears, Congenital diaphragmatic hern...	ORPHA:2063
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia	OMIM:615704
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle...	ORPHA:666
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Cleft lip, Crypto...	OMIM:616894
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Epicanthus, Cataract, Long palpebral fissure, Microphthalmia, Hypopigmentatio...	ORPHA:163649
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Hearing impairment, Abnormalit...	ORPHA:53
Genitopatellar Syndrome	Delayed eruption of teeth, Sparse scalp hair, Short palm, Hip contracture, Micrognathia, Hypoplas...	ORPHA:85201
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Sparse hair, Abnormal bone o...	ORPHA:175
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Absent eyelashes, Short thumb, Partial duplication of thumb phalanx, Cupped ear, M...	OMIM:620193
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Cleft palate, Macrotia, Short di...	OMIM:181180
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the m...	ORPHA:2409
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, High, narrow palate, Protruding ear, Downturned corners of mouth, Conductive hearing ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, High, narrow palate, Protruding ear, Downturned corners of mouth, Conductive hearing ...	ORPHA:352665
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Joubert Syndrome 22	Microphthalmia, Retinal dysplasia, Coloboma	OMIM:615665
Sialidosis Type 1	Retinopathy, Cherry red spot of the macula, Cataract, Corneal opacity	ORPHA:812
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Monosomy 18Q	Mandibular prognathia, Bilateral cryptorchidism, Low anterior hairline, Downturned corners of mou...	ORPHA:1600
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Abnormality of the ...	ORPHA:3455
Microphthalmia, Syndromic 2	Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Lat...	OMIM:300166
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Cataract, Corneal opacity	ORPHA:309288
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Thin upper lip vermilion, Disorganization of the anterior cerebellar vermi...	OMIM:300486
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Catel-Manzke Syndrome	Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Joint laxit...	OMIM:616145
Warburg Micro Syndrome 4	Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Ptosis	OMIM:615663
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Rod-cone dystrophy, Subcapsular cataract, Pigmentary retinopathy	OMIM:268020
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Nail dyst...	OMIM:226600
Congenital Disorder Of Glycosylation, Type Ig	Thin upper lip vermilion, Short humerus, Short femur, Rhizomelia, Sandal gap, Abnormal pinna morp...	OMIM:607143
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Carious teeth, Downturned corners of mo...	ORPHA:1110
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Pachyonychia Congenita	Natal tooth, Alopecia, Angular cheilitis, Palmoplantar blistering, Ear pain, Paronychia, Onychogr...	ORPHA:2309
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Dentici-Novelli Neurodevelopmental Syndrome	Thin upper lip vermilion, Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure, Wid...	OMIM:619877
Trichodental Dysplasia	Brittle hair, Odontodysplasia, Slow-growing hair, Conical tooth, Fine hair, Hypodontia, Sparse hair	OMIM:601453
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Recurrent fractures, Micrognathia, Limitation of joint mobilit...	ORPHA:1486
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Macroorchidism, Osteomalacia, Recurrent fractures,...	ORPHA:562
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Hearing impairment, Cryptorch...	ORPHA:90322
Lambotte Syndrome	Retrognathia, Atresia of the external auditory canal, Narrow mouth, Preaxial foot polydactyly, Ma...	OMIM:245552
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Baraitser-Winter Syndrome 1	Epicanthus, Highly arched eyebrow, Chorioretinal coloboma, Long palpebral fissure, Microphthalmia...	OMIM:243310
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Short fourth metatarsal, Short fifth metatarsal, Joint hypermobility, Clinodactyly of t...	OMIM:261990
Zellweger Syndrome	Epicanthus, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic...	ORPHA:912
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Aniridia-Absent Patella Syndrome	Aniridia, Cataract, Ptosis	ORPHA:1069
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Synophrys, Myoclonic seizure, High palate, Microdontia,...	OMIM:619777
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor...	OMIM:243605
Gapo Syndrome	Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, Wide anterior fontanel, High, narrow pa...	OMIM:230740
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Intellectual Developmental Disorder, X-Linked 45	Macrotia, High palate, Protruding ear	OMIM:300498
Trisomy 13	Cataract, Anophthalmia, Abnormal eyelash morphology, Abnormal retinal vascular morphology, Optic ...	ORPHA:3378
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Decreased calvarial ...	OMIM:259440
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea	ORPHA:77298
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Wide anterior fontanel, Hydrocephalus, Seizure, Cholelithiasis, Abn...	OMIM:614886
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Developmental cataract	OMIM:610756
Pycnodysostosis	Ridged nail, Increased bone mineral density, Delayed eruption of primary teeth, Persistence of pr...	OMIM:265800
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Mixed hearing impairment, Down-sloping shoulders, Tapered finger, Carious teet...	OMIM:615560
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	ORPHA:2328
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ectropion, Ocular albinism, Choroideremia, A...	ORPHA:2719
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Microphthalmia, Iris coloboma	ORPHA:3301
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Microphthalmia, Lenz Type	Cataract, Optic disc coloboma, Ankyloblepharon, Microcornea, Chorioretinal coloboma, Microphthalm...	ORPHA:568
Carpenter Syndrome 2	Bilateral cryptorchidism, High, narrow palate, Low anterior hairline, Preaxial polydactyly, Coxa ...	OMIM:614976
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma, Telecanthus	OMIM:206750
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Tented upper lip vermilion, Tonic seizure, Cryptorchidism, 2-3 toe cutaneous syndactyly, Generali...	OMIM:300260
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Pontocerebellar Hypoplasia, Type 11	Pes planus, Hypoplasia of the pons, Seizure, Cerebellar hypoplasia, Talipes equinovarus, Macrotia	OMIM:617695
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, F...	ORPHA:263463
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Abnormality of the dentition, Synophrys, Macrotia, 2-3 toe syndactyly, Thin vermilion border, Lym...	ORPHA:391307
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Otoonychoperoneal Syndrome	Underfolded helix, Aplasia/Hypoplasia of the earlobes, Flexion contracture, Knee flexion contract...	ORPHA:2793
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Adams-Oliver Syndrome 4	Hypoplastic toenails, Microphthalmia, Toenail dysplasia	OMIM:615297
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Micrognathia, Flexion contracture, Small hand, Seizure, Wrist flexion contracture, High palate, M...	OMIM:300055
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Dental malocc...	OMIM:618975
Developmental And Epileptic Encephalopathy 110	Tented upper lip vermilion, Small hand, Generalized non-motor (absence) seizure, High palate, Low...	OMIM:620149
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Synophrys, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Highly arched eyebrow, 2-3 toe ...	OMIM:614701
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Inguinal hernia, Congenital hip dislocation, Cerebellar ve...	ORPHA:2962
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Micrognathia, Abnormality of hair texture, Synophrys, Dental malocclusi...	ORPHA:73223
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Retinal degeneration	ORPHA:542306
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Protruding ear, Hyperconvex finge...	OMIM:303600
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Sparse h...	OMIM:305100
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Absent fingernail, Mit...	OMIM:609638
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract	OMIM:618805
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ...	OMIM:610915
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi...	ORPHA:79444
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Sparse scalp hair, Hypoplastic fifth toenail, Posteriorly rotated ears...	OMIM:615866
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Thin upper lip vermilion, Posteriorly rotated ears, Hearing impairment, Patch...	OMIM:617763
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Menkes Disease	Joint laxity, Alopecia, Brittle hair, Epileptic spasm, Metaphyseal spurs, Metaphyseal widening, O...	OMIM:309400
Seckel Syndrome	Sparse scalp hair, Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia,...	ORPHA:808
Juvenile Sialidosis Type 2	Optic atrophy, Cherry red spot of the macula, Cataract, Corneal opacity	ORPHA:93399
X-Linked Intellectual Disability, Nascimento Type	Hypoplasia of the pons, Abnormal hair whorl, Deep philtrum, Synophrys, Downturned corners of mout...	ORPHA:163956
Diencephalic Syndrome	Large hands, Macrotia, Everted lower lip vermilion, Hydrocephalus	ORPHA:1672
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimosis, Iris coloboma	ORPHA:3374
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arch...	OMIM:605282
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Abnormal dental en...	ORPHA:2616
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Osteopenia, Hyperparathyroidism, Short femur, Inguinal hernia, Metap...	OMIM:618188
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Clubbing of toes, Pro...	ORPHA:3304
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hernia, Abnormality of the nail, Finger syndactyly, Alopecia, Ab...	ORPHA:2092
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conical incisor, Oligodontia, Cutaneous finger syndactyly, Short palm, Hypoplastic iliac wing, Co...	OMIM:235510
Lethal Acantholytic Erosive Disorder	Natal tooth, Absent eyebrow, Abnormal pinna morphology, Absent eyelashes, 4-5 finger syndactyly, ...	ORPHA:158687
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Epileptic spasm, Bilateral tonic-clonic seizure, Flexion contracture, ...	OMIM:617105
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Eosinophilia, Craniosynostosis, Abnormality...	ORPHA:2314
Achalasia-Microcephaly Syndrome	Mandibular prognathia, Macrotia, Micrognathia	ORPHA:929
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Decreased testicular size	ORPHA:93950
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia, Iris coloboma	ORPHA:85284
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Hypoplastic toenails, Short metatar...	OMIM:166250
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op...	OMIM:120330
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Cutaneous ...	OMIM:211380
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Micrognathia, Protruding ear, Hyperconvex fingernails, Coarse hair, Widely spaced ...	ORPHA:1071
Nicolaides-Baraitser Syndrome	Dry hair, Short lingual frenulum, High, narrow palate, Low anterior hairline, Short metatarsal, P...	OMIM:601358
15Q13.3 Microdeletion Syndrome	Clinodactyly of the 5th finger, Seizure, Macrotia, Protruding ear	ORPHA:199318
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Sparse eyeb...	ORPHA:884
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Macs Syndrome	Joint laxity, Irregular dentition, Alopecia, Pes planus, Micrognathia, Sparse eyebrow, Cryptorchi...	OMIM:613075
Proteus Syndrome	Thin bony cortex, Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Hypertrophy of skin of...	OMIM:176920
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Allan-Herndon-Dudley Syndrome	Hallux valgus, Pes planus, Flexion contracture, Underfolded superior helices, Prominent antihelix...	OMIM:300523
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Protruding ear, Short philtrum, Foot oligodactyly, Absent finger...	ORPHA:3258
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Eosinophilia, Craniosynostosis, Persistence of primary teeth, Recurrent fractures, Hi...	OMIM:147060
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal resorption of h...	ORPHA:94089
Monosomy 22Q13.3	Dental crowding, Hearing impairment, Hypoplastic toenails, Dental malocclusion, Seizure, Large ha...	ORPHA:48652
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Recon Progeroid Syndrome	Attached earlobe, Joint laxity, Prominence of the premaxilla, Dental crowding, Arachnodactyly, Pr...	OMIM:620370
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus	OMIM:144300
Celiac Disease, Susceptibility To, 1	Alopecia, Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Seizure, Recurrent ap...	OMIM:212750
Multiple Benign Circumferential Skin Creases On Limbs	Epicanthus, Microcornea, Microphthalmia, Irregular hyperpigmentation, Retinopathy	ORPHA:2505
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Alopecia, Abnormal fingertip morphology, Abnormality of the ...	ORPHA:90154
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Epicanthus, Highly arched eyebrow, Developmental cataract, Microphtha...	OMIM:618804
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Micrognathia, Synophrys, Downturned corners of mouth, Widely s...	OMIM:619297
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of the dentition, Cariou...	ORPHA:582
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Hutchinson-Gilford Progeria Syndrome	Alopecia, Micrognathia, Absence of subcutaneous fat, Osteolysis, Malar flattening, Generalized os...	OMIM:176670
Baraitser-Winter Syndrome 2	Telecanthus, Highly arched eyebrow, Coloboma, Long palpebral fissure, Microphthalmia, Ptosis	OMIM:614583
Heimler Syndrome 2	Pes planus, Dental crowding, Sensorineural hearing impairment, Leukonychia, Beau's lines, Ameloge...	OMIM:616617
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Cornelia De Lange Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, Congenital diaphragmatic hernia, Synophrys...	ORPHA:199
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Synophrys, Large fleshy ears, High palate, Prominent superior crus of...	ORPHA:280633
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Cerebellar atrophy, Hip dislocation, Oligodontia, Hypodon...	OMIM:614381
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Short femur, Seizure, Focal impaired awareness seizure, Talipes equinovarus, ...	OMIM:620306
3Mc Syndrome	Abnormal pinna morphology, Highly arched eyebrow, Supernumerary nipple, Craniosynostosis, Hearing...	ORPHA:293843
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Papilledema, ...	ORPHA:91500
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corne...	OMIM:278730
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Brushfield spots, Optic nerve dysplasia, Upslanted palpebr...	OMIM:214110
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Macrotia, Flexion contracture, Absence of subcutaneous fat, Triangul...	OMIM:601675
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Micrognathia, High, na...	ORPHA:166108
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Short toe, Osteoarthritis, Tooth agenesis, Microdontia, ...	ORPHA:633
Histiocytoid Cardiomyopathy	Corneal opacity, Optic atrophy, Microphthalmia, Megalocornea, Congenital aphakia	ORPHA:137675
Cln3 Disease	Pigmentary retinopathy, Cataract, Optic atrophy, Bull's eye maculopathy	ORPHA:228346
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ...	ORPHA:59303
Schöpf-Schulz-Passarge Syndrome	Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Palmoplantar keratoderma, Hypodontia...	ORPHA:50944
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Posteriorly rotated ears...	OMIM:617237
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Cupp...	OMIM:614080
Goldberg-Shprintzen Megacolon Syndrome	Sparse scalp hair, Finger syndactyly, Sparse eyebrow, Cleft palate, Seizure, Macrotia	ORPHA:66629
Chromosome 15Q11.2 Deletion Syndrome	Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture...	OMIM:615656
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum	OMIM:613312
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel hypoplasia	OMIM:211900
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Thick lower lip ...	OMIM:300602
Keutel Syndrome	Alopecia, Hearing impairment, Seizure, Calcification of cartilage, Recurrent sinusitis, Recurrent...	ORPHA:85202
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Hypertrichosis, Oligodontia, Widely spaced teet...	OMIM:601216
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Adducted thumb, Hydrocele testis, Notched primary central incisor, Low-set ear...	OMIM:620062
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Cleft maxill...	ORPHA:508488
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Craniosynostosis, Palmoplantar cutis gyrata, Hearing abnormality, Hydrocephalus, Aplasia/Hypoplas...	ORPHA:1555
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp...	ORPHA:2916
Microhydranencephaly	Multiple joint contractures, Generalized myoclonic seizure, Cerebellar hypoplasia, Talipes equino...	OMIM:605013
Kbg Syndrome	Tented upper lip vermilion, Synophrys, Low anterior hairline, Protruding ear, Widely-spaced maxil...	OMIM:148050
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma	OMIM:256540
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Eosinophilia, Abnormality of the dentition, Micrognathia, Sterile absces...	OMIM:618282
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He...	OMIM:259730
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Inguinal hernia, Broad hallux, High, narrow palat...	ORPHA:276432
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ...	OMIM:610829
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal impa...	OMIM:620292
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Alopecia totalis, Nail dysplasia	OMIM:212360
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Chiari type I malformation, Short philtr...	ORPHA:798
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Intrauterine growth retardation, Alopecia, Brittle hair, Short stature	ORPHA:50812
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Synophrys, Low anterior ha...	OMIM:613458
Martin-Probst Syndrome	Pancytopenia, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Thick lower lip ver...	OMIM:300519
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Protruding tongue, Abnormal thumb morphology, Seizure, Contractures of the...	ORPHA:324410
Kapur-Toriello Syndrome	Microphthalmia, Cataract, Retinal coloboma, Iris coloboma	OMIM:244300
Xeroderma Pigmentosum, Complementation Group B	Cataract, Freckling, Optic atrophy, Pigmentary retinopathy, Microphthalmia	OMIM:610651
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Narrow grea...	OMIM:312870
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Hypoparathyroidism, Abnormal dental enamel morphology, Patchy ...	ORPHA:2323
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
Warburg Micro Syndrome 2	Cataract, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia	OMIM:614225
Gm1 Gangliosidosis Type 1	Macrotia, Gingival overgrowth, Hepatosplenomegaly, Hypoplastic vertebral bodies, Macroglossia, Fl...	ORPHA:79255
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the clavicles, Hearing impairment, A...	ORPHA:90153
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Short philtrum, Advan...	OMIM:619148
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi...	ORPHA:2919
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel...	OMIM:114290
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypopigmentation of the skin, Abnor...	ORPHA:1493
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Downslanted palpebral fissures, Peters anomaly	OMIM:614526
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Astigmatism	ORPHA:1824
Cranioectodermal Dysplasia 3	Joint laxity, Rhizomelia, Short nail, Sandal gap, Micrognathia, 2-4 toe syndactyly, Postaxial pol...	OMIM:614099
Chromosome 6Pter-P24 Deletion Syndrome	Epicanthus, Telecanthus, Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal s...	OMIM:612582
Costello Syndrome	Deep-set nails, Low-set, posteriorly rotated ears, Abnormal fingernail morphology, Abnormal denta...	ORPHA:3071
Glass Syndrome	Dental crowding, Anterior tibial bowing, Conical tooth, Micrognathia, Oligodontia, High palate, S...	OMIM:612313
Otofaciocervical Syndrome	Down-sloping shoulders, Protruding ear, Abnormal antihelix morphology, High palate, Atresia of th...	ORPHA:2792
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Microphthalmia With Limb Anomalies	Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig...	OMIM:206920
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,...	OMIM:135500
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Wolfram Syndrome 1	Pigmentary retinopathy, Cataract, Optic atrophy, Ptosis	OMIM:222300
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Microcornea, Blepharophimosis, Microphthalmia, Epicanthus inv...	OMIM:110100
Histidinuria-Renal Tubular Defect Syndrome	Hypoplastic toenails, Sensorineural hearing impairment, Short middle phalanx of finger, Long phil...	ORPHA:2158
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Omphalocele, Congenital hip dislocation, Macroglossia, Anemia	OMIM:614450
Incontinentia Pigmenti	Ridged nail, Conical tooth, Oligodontia, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Alo...	OMIM:308300
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid...	ORPHA:93357
Cohen-Gibson Syndrome	Osteopenia, Joint laxity, Thin nail, Long foot, Coxa valga, Long fingers, Macrotia, Flexion contr...	OMIM:617561
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Hamartoma of tongue, Cleft upper lip, Postaxial polyda...	OMIM:613091
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Micrognathia, Hiatus hernia, Wide mouth, Seizure, Joint contracture of the ha...	OMIM:251300
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Oral mucosal blisters, Atrophic scars, Nail dystrophy, Nail dysplasia, Arthrogryposis multiplex c...	OMIM:226730
Koolen-De Vries Syndrome	Anteverted ears, Positional foot deformity, High palate, Widely spaced teeth, Prominent fingertip...	OMIM:610443
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab...	ORPHA:2204
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, ...	OMIM:613001
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu...	ORPHA:2167
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Otitis media, Conductive hearing impairment, Joint laxity, Broad hallux, Pilomat...	ORPHA:353281
Intellectual Developmental Disorder, Autosomal Dominant 58	Inguinal hernia, Dental crowding, Posteriorly rotated ears, Protruding tongue, Submucous cleft ha...	OMIM:618106
Rabson-Mendenhall Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Enlarged ovaries, Dental crowding, Th...	ORPHA:769
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Uplifted earlobe, Tapered finger, Abnormality of the dentition, Thi...	ORPHA:261652
Trisomy 10P	Micrognathia, Abnormality of the ear, Orofacial cleft, High palate, Abnormal hip joint morphology...	ORPHA:171929
Usher Syndrome Type 2	Abnormality of dental color, Aplasia/Hypoplasia of the cerebellum, Abnormal dental enamel morphol...	ORPHA:231178
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and...	OMIM:261900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Chiari type I malformation, High palate, Otitis media, Conductive ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Chiari type I malformation, High palate, Otitis media, Conductive ...	ORPHA:353277
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Holoprosencephaly	Congenital diaphragmatic hernia, Abnormality of the spleen, Deep philtrum, Synophrys, Holoprosenc...	ORPHA:2162
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Hyperconvex fingernails, Advanced eruption of teeth, Prominence of t...	ORPHA:2215
Cardiofaciocutaneous Syndrome	Brittle hair, High palate, Thickened helices, Sparse hair, Dystrophic fingernails, Low-set, poste...	ORPHA:1340
Frontonasal Dysplasia 2	Encephalocele, Cerebellar vermis hypoplasia, Sparse eyelashes, Alopecia totalis, Agenesis of cere...	OMIM:613451
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Hearing impairment, Protruding ton...	OMIM:610253
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to frac...	OMIM:166220
Acro-Renal-Ocular Syndrome	Epicanthus, Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Choriore...	ORPHA:959
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Thin upper lip vermilion, Craniosynostosis, Bilateral cryptorchidism, High palate, Low-set ears, ...	ORPHA:314575
Ectodermal Dysplasia/Skin Fragility Syndrome	Anhidrosis, Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dys...	OMIM:604536
Warburg-Cinotti Syndrome	Epicanthus, Retinal dystrophy, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficienc...	OMIM:618175
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Generalized joint laxity, C...	ORPHA:2834
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Femoral bowing, Increased susceptibility to fractu...	OMIM:166200
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac w...	ORPHA:198
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Foot joint contracture, Scarring, Del...	ORPHA:90321
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Inguinal hernia, Hearing impairment, Splenomegaly, Hydrocephalus, Thic...	OMIM:309900
Ssr4-Cdg	Abnormality of upper lip vermillion, Wide mouth, Seizure, Widely spaced teeth, Macrotia	ORPHA:370927
Biemond Syndrome Type 2	Microphthalmia, Coloboma	ORPHA:141333
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Frontorhiny	Epicanthus, Cataract, Microphthalmia, Iris coloboma, Ptosis	ORPHA:391474
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Neonatal epiphyseal stippling, Flexion contracture, Coarse hair, High...	ORPHA:35173
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Inguinal hernia, Arachnodactyly, Joint stiffness, Deviation of finger, Bilateral talipes equinova...	ORPHA:1154
Ververi-Brady Syndrome	Thin upper lip vermilion, Cupped ear, Wide mouth, Everted lower lip vermilion, High palate, Metap...	OMIM:617982
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
X-Linked Intellectual Disability, Cilliers Type	Cryptorchidism, Increased circulating gonadotropin level, Small hand, Small nail, Clinodactyly of...	ORPHA:163971
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Osteopenia, Short metatarsal, Sparse hair, Short metacarpal, Rhizomelia, C...	OMIM:614813
Cornelia De Lange Syndrome 1	Micromelia, Micrognathia, Proximal placement of thumb, High, narrow palate, Synophrys, Congenital...	OMIM:122470
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Distal Deletion 19P	Long toe, Low-set, posteriorly rotated ears, Alopecia, Vaginal hernia, Arachnodactyly, Hypoplasia...	ORPHA:96129
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Satoyoshi Syndrome	Pes planus, Short metacarpal, Alopecia, Short metatarsal, Osteolytic defects of the phalanges of ...	OMIM:600705
Hermansky-Pudlak Syndrome 10	Bilateral tonic-clonic seizure, Albinism, Splenomegaly, Focal myoclonic seizure, Macrotia, Low-se...	OMIM:617050
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Oligodontia, Bile duct prol...	OMIM:607626
Ane Syndrome	Alopecia, Ulnar deviation of the hand, Multiple joint contractures, Decreased response to growth ...	ORPHA:157954
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Thin fingernail, Abnormal dental morphology, Abnormal dental enamel morphology, A...	ORPHA:85199
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, High palate, Abnorm...	ORPHA:861
Endocrine-Cerebroosteodysplasia	Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Holoprosencephaly, Aplasia/Hypopla...	OMIM:612651
Mosaic Trisomy 8	Abnormal pinna morphology, Camptodactyly of finger, Micrognathia, Cryptorchidism, Patellar aplasi...	ORPHA:96061
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormal eyelid morphology, Abnorma...	ORPHA:193
Lcat Deficiency	Corneal opacity	ORPHA:650
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Weill-Marchesani Syndrome 1	Cataract, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Shallow orbits	OMIM:277600
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Alopecia, Autoimmune hemolytic ...	OMIM:615559
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Low anterior hairline, Abnormal finger morphology, D...	ORPHA:79500
D-Lactic Aciduria With Gout	Aniridia, Downslanted palpebral fissures	OMIM:245450
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Joint laxity, Inguinal hernia, Grayish enamel, Carious teeth, Epiphyseal d...	OMIM:253000
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Focal-onset seizure, Oligodontia, Cerebellar hypoplasia, Hypodontia	ORPHA:447896
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Highly arched eyebrow, Micro...	OMIM:145420
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
Cockayne Syndrome	Cerebellar atrophy, High-frequency sensorineural hearing impairment, Dry hair, Reduced subcutaneo...	ORPHA:191
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ...	ORPHA:3107
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Dental crowding, Cutaneous finger syndactyly, Conductive hearing...	OMIM:219000
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Alopecia, Arachnodactyly, Hearing impairment, Hypoplasia of the pons, Ankle c...	ORPHA:412057
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Pes planus, Communicating hydrocephalus, Low-set, posteriorly rotated ears...	ORPHA:457359
Trichothiodystrophy 3, Photosensitive	Natal tooth, Brittle hair, Carious teeth, Bilateral cryptorchidism, Low-set ears, Neutropenia, Ec...	OMIM:616395
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Ring Chromosome 22 Syndrome	Protruding tongue, 2-3 toe syndactyly, Seizure, Large hands, Thick vermilion border, Macrotia, To...	ORPHA:1446
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Limited hip extension, Flexion contracture, Tibial bowing, Knee dislocation, Sho...	OMIM:143095
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Hypoplasia of the ...	OMIM:272460
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Pancytopenia, Femur fracture, Osteomyelitis, Craniosynostosis, Ca...	OMIM:259700
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c...	OMIM:620076
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Overlapping toe, Posteriorly rotated ears, Craniosynostosis, Hydrocephalus, Gingival...	OMIM:123790
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Micrognathia, Hypoplasia of the pons, Sensorineural hearing impairment,...	OMIM:300749
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Cryptorchidism, Clinodactyly, Wide mouth, Macroglossia, Everted lower lip vermilion, Talipes equi...	OMIM:616789
Acromelic Frontonasal Dysplasia	Encephalocele, Hypopituitarism, Median cleft lip, Anterior pituitary hypoplasia, Midline central ...	ORPHA:1827
Multiple Sulfatase Deficiency	Corneal opacity, Retinal degeneration	OMIM:272200
Jacobsen Syndrome	Epicanthus, Telecanthus, Abnormal eyelash morphology, Optic atrophy, Nasolacrimal duct obstructio...	OMIM:147791
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin...	OMIM:308050
Fibrochondrogenesis 1	Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, P...	OMIM:228520
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Thin bony cortex, Dental crowding...	OMIM:309583
Cataract 16, Multiple Types	Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract	OMIM:613763
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:241530
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Telecanthus, White eyelashes, White eyebrow, Abnormality of retinal ...	ORPHA:897
Cystinosis, Adult Nonnephropathic	Abnormal retinal morphology, Corneal crystals	OMIM:219750
Branchio-Oculo-Facial Syndrome	Cataract, Nasolacrimal duct obstruction, Microcornea, Coloboma, Upslanted palpebral fissure, Prem...	ORPHA:1297
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Arachnodactyly, Abnormal dental enamel morphology, Ab...	ORPHA:96169
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Femur fracture, Delayed eruption of primary teeth, Micrognat...	OMIM:619322
Xq28 (MECP2) duplication	Malar flattening, Macrotia, Seizure, Narrow mouth	DECIPHER:45
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Prolidase Deficiency	Arachnodactyly, Abnormal fingernail morphology, Micrognathia, Carious teeth, Splenomegaly, Low an...	ORPHA:742
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, High palate,...	ORPHA:2180
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Cerebellar vermis hypoplasia, Pancreatic fibrosis, Hamartoma of tongue, Preaxia...	OMIM:263520
Galloway-Mowat Syndrome	Camptodactyly of finger, Abnormality of the dentition, Aqueductal stenosis, Micrognathia, Hiatus ...	ORPHA:2065
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Juvenile myelomonocytic leukemia, Posteriorly rotated ears, Highly arched eyebrow, ...	OMIM:613563
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Ptosis	ORPHA:2743
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy	OMIM:616538
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Long eyebrows, Optic atrophy, Long eyelashes, S-shaped palpebral fissures, Micropht...	OMIM:201180
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Hypoplastic toenails, Conical incisor, Microdontia, ...	ORPHA:289
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Cystinosis	Retinopathy, Corneal opacity	ORPHA:213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Short humerus, Short femur, Tapered finger, Tonic seizure, Seizure, Atonic se...	OMIM:618367
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Multifocal seizures, Status epilepticus, Hypodontia, Amelogenesis impe...	OMIM:615905
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Thin upper lip vermilion, Dilated fourth ventricle, Cerebellar vermis hypopla...	OMIM:212065
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Generalized-onset seizure, Focal-onset seizure, Leukocytosis, Anterior open-bite malocclusion, St...	ORPHA:83601
Kabuki Syndrome	Congenital diaphragmatic hernia, Orofacial cleft, Protruding ear, High palate, Widely spaced teet...	ORPHA:2322
Cousin Syndrome	Micrognathia, Low anterior hairline, Prominent protruding coccyx, Hypoplastic iliac wing, Clinoda...	OMIM:260660
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic...	ORPHA:93324
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto...	OMIM:258315
Auriculoosteodysplasia	Attached earlobe, Aplasia/Hypoplasia of the earlobes, Hip dysplasia, Aplasia/Hypoplasia of the ra...	ORPHA:114
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Rubinstein-Taybi Syndrome	Micrognathia, High palate, Clinodactyly of the 5th finger, Generalized hirsutism, Finger syndacty...	ORPHA:783
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:248340
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Sparse hair, Microdontia, Microre...	OMIM:278250
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Epicanthus, Anophthalmia, Cataract, Chorioretinal dysplasia, Abnormal nasolac...	ORPHA:2526
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Hypoplasia of ...	OMIM:106260
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Pigmentary retinopathy	ORPHA:88628
Odontomicronychial Dysplasia	Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Thin na...	ORPHA:1811
Martsolf Syndrome 2	Macrotia, Overlapping toe, Camptodactyly of finger, Camptodactyly	OMIM:619420
Hypotonia-Cystinuria Syndrome	Tented upper lip vermilion, Posteriorly rotated ears, Decreased response to growth hormone stimul...	OMIM:606407
Autosomal Recessive Cutis Laxa Type 2A	Downslanted palpebral fissures, Abnormal cornea morphology, Corneal opacity	ORPHA:357058
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Micrognathi...	ORPHA:56305
Kniest Dysplasia	Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductive hearing impairment, Abnorma...	OMIM:156550
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Developmental cataract, Vitreous hemorrhage,...	OMIM:620185
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Hydrocephalus, Pl...	ORPHA:77301
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Hypoplasia of the odontoid pro...	OMIM:253200
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Conjunctivitis, Blepharitis, Ectr...	OMIM:308800
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Cryptorchidism...	OMIM:619718
Chromosome 18P Deletion Syndrome	Toe syndactyly, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Coxa vara, High palate, R...	OMIM:146390
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Rhizomelia, Postaxial polydactyly, Abnormal pinna morphology, Sparse eyebrow, E...	OMIM:302960
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail, Hypohidrosis	ORPHA:79394
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Inguinal hernia, ...	ORPHA:2953
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Familial Dysautonomia	Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis	ORPHA:1764
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Iris coloboma	OMIM:309801
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Conductive hearing impairment, Abnormal salivary glan...	ORPHA:2363
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Microphthalmia, Cafe-au-lait spot, Short p...	ORPHA:364577
Barth Syndrome	Mandibular prognathia, Cyclic neutropenia, Macrotia, Hypochromic microcytic anemia, Granulocytope...	OMIM:302060
Tooth Agenesis, Selective, 3	Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal fingernail morphology, Abnorm...	OMIM:604625
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Metaphyseal widening, Metaphyseal chondromatosis of radius, Abnormal...	ORPHA:99646
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Osteopenia, Micrognathia, Bilateral cryptorchidism, Deep philtrum, Protrud...	OMIM:150230
Acrofacial Dysostosis, Catania Type	Microretrognathia, Smooth philtrum, Finger syndactyly, Low-set, posteriorly rotated ears, Inguina...	ORPHA:1786
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Cerebellar atrophy, Limb joint contracture, Tapered finger, Splenomega...	OMIM:301072
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Clo...	OMIM:615574
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Bilateral tonic-clonic seizure, Generalized my...	OMIM:300912
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Asplenia, Tympanosclerosis, Nail dystrophy, Cholelithiasis, Enamel ...	OMIM:240300
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Osteopenia, Recurrent fractures, Micrognathia, Hydrocephalus, Reduce...	OMIM:112240
Alpha-Heavy Chain Disease	Growth delay, Alopecia	ORPHA:100025
Coffin-Siris Syndrome	Low anterior hairline, Hernia, Dandy-Walker malformation, Joint laxity, Cryptorchidism, Prominent...	ORPHA:1465
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300554
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe...	OMIM:608328
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Microcornea, Upslanted palpebral fissure, Blepharophimosis, Microphthalmia, Short pal...	OMIM:156610
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Arachnodactyly, Camptodactyly of finger, Carious teeth, Sensorineural hearing impai...	ORPHA:1883
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Recurrent fractures, Hydrocephalus, High palate, Lambdoidal cranio...	OMIM:616294
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Coxa vara, Increased suscepti...	OMIM:610968
Mmep Syndrome	Microphthalmia	ORPHA:3434
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Hamartoma of tongue, Short t...	OMIM:269860
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume...	ORPHA:3353
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Corneal opacity, Optic nerve hypoplasia, Astigmatism, Downslanted palpebral fissures	OMIM:301056
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Oligoarticular Juvenile Idiopathic Arthritis	Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy	ORPHA:85410
Donohue Syndrome	Adipose tissue loss, Macrotia, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Ovaria...	OMIM:246200
Dermotrichic Syndrome	Hyperconvex toenail, Seizure, Nail dystrophy, Macrotia, Anemia	ORPHA:99688
Cole-Carpenter Syndrome	Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b...	ORPHA:2050
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Cardiospondylocarpofacial Syndrome	Brachydactyly, High, narrow palate, Short palm, Conductive hearing impairment, Failure of eruptio...	ORPHA:3238
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy, Cataract	ORPHA:79095
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo...	ORPHA:536467
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi...	OMIM:607634
Koolen-De Vries Syndrome Due To A Point Mutation	Generalized-onset seizure, Decreased response to growth hormone stimulation test, Calcaneovalgus ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Generalized-onset seizure, Decreased response to growth hormone stimulation test, Calcaneovalgus ...	ORPHA:363958
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Finger syndactyly, Toe sy...	ORPHA:978
Steatocystoma Multiplex With Natal Teeth	Natal tooth, Abnormality of the nail	OMIM:184510
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Pes planus, Dental crowding, Abnormality of the dentition, Micrognathia, Unilateral r...	ORPHA:476126
Primrose Syndrome	Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion...	OMIM:259050
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Abnormal pinna morphology, Absent tragus, Cleft lip,...	OMIM:603457
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Downslanted palpebral fissures, Limbal d...	ORPHA:2969
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Retinal degeneration, Retinopathy, Hyperopic astigmatism	OMIM:252600
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Conductive hearing impairment, Uln...	OMIM:171480
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Upper eyelid coloboma, Sclerocornea, Abnormal eyelid morphology	ORPHA:2095
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Hiatus hernia, Coarse hair, Low-set ears, Macrotia	OMIM:619603
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Scarring, Craniosynostosis, Oral mucosal blisters, Anemia, Atrophic scars, Palmoplantar...	ORPHA:79396
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral densi...	ORPHA:50945
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Micrognathia, Flexion contracture, Acanthocytosis, Hand clenching, Umbilical h...	OMIM:618947
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration, Ptosis	OMIM:520000
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Upslanted palpebral fissure, Microphthalmia, Ocular albinism, Blepharophimosis	ORPHA:1352
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Seizure, Yellow-br...	ORPHA:1946
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Synophrys, H...	ORPHA:3042
H Syndrome	Hallux valgus, Abnormal eyebrow morphology, Alopecia, Pes planus, Histiocytosis, Recurrent fractu...	ORPHA:168569
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef...	OMIM:617337
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Flexion contracture, Palmoplantar hyperkeratosis, Everted lower lip vermilion, Nail dys...	OMIM:242300
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Developmental cataract	OMIM:616603
Scheie Syndrome	Corneal opacity	ORPHA:93474
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Lymphopenia, Abnormal dental morphology, Abnormal o...	ORPHA:2136
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Alopecia, Brachydactyly, Hypoplastic fingernail, Talipes, Abnor...	ORPHA:974
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Palmoplantar hyperkeratosis, Myoclonic seizure, Short philtrum, Widely spaced t...	OMIM:280000
Monosomy 13Q14	Epicanthus, Cataract, Retinoblastoma, Microphthalmia, Iris coloboma, Ptosis	ORPHA:1587
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone m...	ORPHA:1427
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Femoral bowing, Anotia, Microtia...	OMIM:616462
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Broad hallux, Cleft soft...	OMIM:620107
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Telecanthus, Anterior chamber synechiae	OMIM:601499
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Thin upper lip vermilion, Alopecia, Abnormal eyebrow morphology, Sparse facial hair, ...	ORPHA:2232
Optic Atrophy 11	Splenomegaly, Seizure, Bilateral talipes equinovarus, Cerebellar hypoplasia, Macrotia, Hearing im...	OMIM:617302
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Hypoplast...	OMIM:263650
Trisomy 18	Abnormality of retinal pigmentation, Epicanthus, Cataract, Microcornea, Blepharophimosis, Microph...	ORPHA:3380
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma, Micr...	OMIM:206900
Linear Nevus Sebaceus Syndrome	Telecanthus, Melanocytic nevus, Microphthalmia, Irregular hyperpigmentation, Iris coloboma	ORPHA:2612
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Alopecia, Abnormal hair pattern, Abnormality of the dentition, Sensori...	ORPHA:2315
Intellectual Developmental Disorder, Autosomal Dominant 21	Posteriorly rotated ears, Narrow mouth, Cryptorchidism, Cleft palate, Thin vermilion border, Long...	OMIM:615502
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism, Macrotia, Thick lower lip vermilion, Bilateral sensorineural hearing impairment	OMIM:300238
Woolly Hair Nevus	Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Lacrimal duct atresia, Hyperpigmented streaks, Sclerocornea	OMIM:300952
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
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
Kleefstra Syndrome	Mandibular prognathia, Tented upper lip vermilion, Synophrys, Downturned corners of mouth, Hernia...	ORPHA:261494
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Posteriorly rotated ears, Bilateral cleft lip, Microgn...	OMIM:164745
Pachyonychia Congenita 2	Natal tooth, Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eye...	OMIM:167210
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Thrombocytopenia, Sens...	ORPHA:47
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata...	OMIM:175780
Leigh Syndrome	Cerebellar atrophy, Alopecia, Multiple joint contractures, Infantile spasms, Sensorineural hearin...	ORPHA:506
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Abnormal dental enamel morphology, Hypoplastic fingernail	ORPHA:257
Congenital Toxoplasmosis	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:858
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Coloboma, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperconvex fingernails, Sparse hair, Abnormality of the nail, Absent eyebrow, Alopecia, Abnormal...	ORPHA:2273
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Kenny-Caffey Syndrome, Type 1	Carious teeth, Small hand, Short foot, Slender long bone, Seizure, Short palm, Congenital hypopar...	OMIM:244460
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Short toe, Sensorineural hearing impairment, Cone-shaped epiphyses of the phalanges o...	OMIM:619269
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey...	ORPHA:2396
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Acute myeloid leukemia, Sparse eyelashes, Pancytopenia, Decrea...	OMIM:305000
Cataract 6, Multiple Types	Posterior polar cataract, Choroideremia, Developmental cataract	OMIM:116600
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Nail dysplasia, Yellow-brown discoloration of the teeth	OMIM:615887
Tangier Disease	Ectropion, Opacification of the corneal stroma, Cicatricial ectropion	OMIM:205400
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d...	ORPHA:521445
Williams Syndrome	Osteopenia, Micrognathia, Hypoplastic toenails, Protruding ear, Microdontia, Clinodactyly of the ...	ORPHA:904
Neurotrophic Keratopathy	Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion...	ORPHA:137596
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	OMIM:184705
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Cataract, Microcornea, Microphthalmia, Downslanted palpebral fissures, Ptosis	OMIM:616449
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Recurrent fractures, Carious teeth, Osteoporosis, Femoral b...	OMIM:126550
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, Short...	OMIM:135900
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Premature loss of prima...	ORPHA:667
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A...	OMIM:607823
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Dental crowding, Thin nail, Delayed eruption of primary teeth, Bilateral toni...	OMIM:617799
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Nail dystrophy, Hypohidrosis	ORPHA:100976
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Premature graying of hair, Chiari type I malformation, Clinodact...	OMIM:194050
Intellectual Developmental Disorder, Autosomal Recessive 71	Seizure, Macrotia, Increased overbite, Cryptorchidism	OMIM:618504
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Bowing of the legs,...	OMIM:610682
Angelman Syndrome	Keratoconus, Optic disc pallor, Iris hypopigmentation, Optic atrophy, Astigmatism, Fair hair, Hyp...	ORPHA:72
Porphyria, Congenital Erythropoietic	Osteopenia, Absent eyebrow, Alopecia, Erythrodontia, Hemolytic anemia, Splenomegaly, Loss of eyel...	OMIM:263700
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Abnormal cortical bone morphology	ORPHA:2512
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Renpenning Syndrome 1	Mandibular prognathia, Brittle hair, Micrognathia, Narrow foot, Protruding ear, High palate, Shor...	OMIM:309500
Autoimmune Polyendocrinopathy Type 1	Cataract, Hypopigmented skin patches, Opacification of the corneal stroma	ORPHA:3453
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ...	ORPHA:1525
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa...	OMIM:619752
Cockayne Syndrome Type 3	Dry hair, Carious teeth, Splenomegaly, Flexion contracture, Premature graying of hair, Seizure, A...	ORPHA:90324
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Onychauxis, High palate, Advanced eruption of teeth, Hypertrichosis	OMIM:262190
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Scle...	ORPHA:2556
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased respo...	ORPHA:811
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Epicanthus, Upslanted palpebral fissure, Coloboma, Astigmatism, Downslanted palpebral fissures, P...	OMIM:618659
Visual Impairment And Progressive Phthisis Bulbi	Phthisis bulbi, Flat cornea, Ptosis	OMIM:618283
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Branchioskeletogenital Syndrome	Mandibular prognathia, Attached earlobe, Hypoplasia of the maxilla, Upper limb peromelia, Synophr...	ORPHA:1299
Farber Disease	Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn...	ORPHA:333
Hypophosphatasia, Adult	Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Recurrent fract...	OMIM:146300
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal ulce...	OMIM:153400
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia	OMIM:606893
Kabuki Syndrome 1	Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Prominent fingertip pads, ...	OMIM:147920
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Epicanthus, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior ch...	ORPHA:2479
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Mandibular prognathia, Seizure, Short philtrum, Status epilepticus, Joint contracture, Macrotia	OMIM:617864
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Intellectual Developmental Disorder, Autosomal Recessive 72	Thin upper lip vermilion, Posteriorly rotated ears, Seizure, Low-set ears, Long philtrum, Macrotia	OMIM:618665
Degcags Syndrome	Osteopenia, Micrognathia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia...	OMIM:619488
Usher Syndrome	Abnormality of retinal pigmentation, Astigmatism, Cataract	ORPHA:886
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Nail dysplasia, Hypoplastic nipples, Breast hypoplasia	OMIM:129550
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Hypohidrosis, Small nail	OMIM:242100
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Persistence of primary teeth, Micrognathia, Abnormality of the...	ORPHA:2785
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Conjunctivitis	OMIM:242150
3Q29 Microdeletion Syndrome	Dental crowding, Abnormality of the dentition, Tapered finger, Orofacial cleft, Joint hyperflexib...	ORPHA:65286
Ophthalmoplegia, Familial Static	Anisocoria, Ptosis	OMIM:165000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat...	OMIM:619503
Immunodeficiency, Common Variable, 10	Trachyonychia, Alopecia totalis, Decreased response to growth hormone stimulation test, Chiari ty...	OMIM:615577
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Adnp Syndrome	Abnormal finger morphology, Protruding ear, Advanced eruption of teeth, Abnormality of the nail, ...	ORPHA:404448
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Hearing impairment, Mic...	OMIM:618150
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate...	ORPHA:3320
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300009
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Calcaneovalgus deformity, Dandy-Walker malformation, Finge...	OMIM:256520
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hearing impairment, Micrognat...	OMIM:163950
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Downslanted palpebral fissures, Corneal dystrophy	ORPHA:52
Joubert Syndrome 14	Epicanthus, Highly arched eyebrow, Morning glory anomaly, Optic atrophy, Coloboma, Microphthalmia...	OMIM:614424
Dubowitz Syndrome	Epicanthus, Telecanthus, Hypoplasia of the iris, Sparse lateral eyebrow, Blepharophimosis, Microp...	OMIM:223370
Microphthalmia, Syndromic 6	Uplifted earlobe, Micrognathia, Protruding ear, High palate, Clinodactyly of the 5th finger, Bifi...	OMIM:607932
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl...	OMIM:113300
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Hearing abnormality, Dentinogenesis imperfecta,...	OMIM:616507
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Thick eyebrow, Epileptic spasm, Exaggerated cupid's bow, Seizure, Fused te...	OMIM:300896
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Oste...	ORPHA:284984
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi...	ORPHA:3472
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Generalized-onset seizure, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/H...	ORPHA:85165
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
White-Kernohan Syndrome	Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Synophrys, Broad medial eyebr...	OMIM:619426
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Median cleft lip, Abnormal pinna morphology, Micrognathia, Preaxia...	OMIM:236680
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Megaloblastic anemia, Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, ...	ORPHA:2575
Holoprosencephaly 14	Cerebellar atrophy, Median cleft lip, Bilateral tonic-clonic seizure, Alobar holoprosencephaly, A...	OMIM:619895
X-Linked Intellectual Disability, Seemanova Type	Cryptorchidism, Retrognathia, Seizure, High palate, Macrotia	ORPHA:85323
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Highly arched eyebrow, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced te...	OMIM:617865
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition...	OMIM:216300
Mogs-Cdg	Absent brainstem auditory responses, Alopecia, Fair hair, Thrombocytopenia, Sensorineural hearing...	ORPHA:79330
Apolipoprotein A-I Deficiency	Xanthelasma, Opacification of the corneal stroma	ORPHA:425
Pachydermoperiostosis	Abnormal hair quantity, Osteomyelitis, Abnormal fingernail morphology, Abnormal hair pattern, Ele...	ORPHA:2796
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Short nail, Micromelia, Deep philtrum, Focal mot...	ORPHA:1675
Barber-Say Syndrome	Delayed eruption of teeth, Abnormal pinna morphology, Wide mouth, Sparse or absent eyelashes, Bre...	ORPHA:1231
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Talipes calcaneovalgu...	ORPHA:818
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Cerebellar vermis hypoplasia, Micrognathia, Femoral bowing, Abnormal...	OMIM:274000
Charge Syndrome	Aqueductal stenosis, Abnormal tibia morphology, Hypoplasia of the semicircular canal, Holoprosenc...	ORPHA:138
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
2Q31.1 Microdeletion Syndrome	Epicanthus, Synophrys, Optic disc coloboma, Coloboma, Microphthalmia, Downslanted palpebral fissu...	ORPHA:251014
Hurler Syndrome	Bilateral ptosis, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma	OMIM:607014
Fanconi Anemia, Complementation Group I	Microphthalmia, Cafe-au-lait spot, Astigmatism, Optic nerve hypoplasia	OMIM:609053
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Blepharophimosis, ...	ORPHA:233
Duane-Radial Ray Syndrome	Epicanthus, Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma, Pal...	OMIM:607323
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Palmoplantar hyperkeratosis, Tooth agenesis, Clubbing...	OMIM:605676
Ogden Syndrome	Congenital hip dislocation, Generalized-onset seizure, Micrognathia, Deep philtrum, Protruding ea...	OMIM:300855
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	ORPHA:280365
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, Protruding ear, H...	ORPHA:93315
Witteveen-Kolk Syndrome	Glue ear, Decreased response to growth hormone stimulation test, Proximal placement of thumb, Upl...	OMIM:613406
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Pitt-Hopkins Syndrome	Pes planus, Supernumerary nipple, Tapered finger, Hiatus hernia, Cryptorchidism, Broad fingertip,...	ORPHA:2896
Congenital Fibrinogen Deficiency	Microphthalmia, Developmental cataract	ORPHA:335
Otosclerosis 10	Otosclerosis	OMIM:615589
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Seizure, Macrotia, Everted lower lip vermilion	ORPHA:85286
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Hurler-Scheie Syndrome	Corneal opacity	OMIM:607015
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells...	ORPHA:169154
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia, Persistence of primary teeth	ORPHA:375
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Epileptic spasm, Inguinal hernia, Posteriorl...	OMIM:247200
Mycophenolate Mofetil Embryopathy	Microphthalmia, Eyelid coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:268249
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Sparse eyebrow, Synophrys, Buphthalmo...	ORPHA:495875
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Cleft palate, Oro...	OMIM:601701
Frontonasal Dysplasia 3	Microphthalmia, Absent eyebrow, Sparse eyelashes	OMIM:613456
Arterial Tortuosity Syndrome	Inguinal hernia, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necr...	ORPHA:3342
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo...	ORPHA:3206
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia	OMIM:253800
Chime Syndrome	Epicanthus, Corneal opacity, Upslanted palpebral fissure, Retinal coloboma, Ptosis	ORPHA:3474
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormal hair morphology, Abnormality of the humerus, Ab...	ORPHA:3130
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia...	ORPHA:3035
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip morphology,...	ORPHA:79404
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, Ab...	ORPHA:636
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Optic disc pallor, Highly arched eyebrow	OMIM:300887
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Absent eyelashes, Wide anterior font...	OMIM:275210
Keutel Syndrome	Sinusitis, Calcification of the auricular cartilage, Short hallux, Hearing impairment, Premature ...	OMIM:245150
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Fucosidosis	Corneal opacity	ORPHA:349
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Sensorineural hearing impairment, Flexion contracture, Orofacial clef...	ORPHA:17
Fraser Syndrome	Encephalocele, Finger syndactyly, Low-set, posteriorly rotated ears, Toe syndactyly, Dental crowd...	ORPHA:2052
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Microphthalmia, Papilledema, Developmental cataract	OMIM:127000
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Thick eyebrow, Arachnodactyly, Micrognathia, Sensorineural hearing ...	OMIM:618971
Somatomammotropinoma	Mandibular prognathia, Synophrys, Osteoarthritis, Widely spaced teeth, Pituitary prolactin cell a...	ORPHA:314769
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Cellulit...	ORPHA:1310
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Seizure, Hydrocephalus, Macrotia	OMIM:300886
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Epicanthus, Telecanthus, Optic disc pal...	OMIM:267750
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,...	ORPHA:1788
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing...	OMIM:223800
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Clubbing, Clubbing of fingers, Nail dystrophy, Nail dysplasia, Glossitis, Anemia	OMIM:175500
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Abnormal size of the palpebral fissures, Corneal dystrophy, Abnormal vitreous humor...	ORPHA:1101
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Proteus Syndrome	Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality of the nail, Generalized ...	ORPHA:744
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor...	OMIM:256800
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, High palate, Dandy-Walker malformation, Enlarged o...	ORPHA:2745
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Pes planus, Joint laxity, Seizure, Recurrent otitis media, Macrotia	ORPHA:449291
Holoprosencephaly 7	Alobar holoprosencephaly, Synophrys, Holoprosencephaly, Median cleft palate, Hypoplasia of the pr...	OMIM:610828
Hutchinson-Gilford Progeria Syndrome	Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon...	OMIM:615873
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Holoprosencephaly, Dis...	OMIM:146510
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Splenomegaly, Polycysti...	ORPHA:2348
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Moebius Syndrome	Epicanthus, Corneal opacity, Multiple cafe-au-lait spots, Blepharitis, Ptosis	ORPHA:570
Marfan Syndrome	Retinal detachment, Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the gl...	OMIM:154700
Choroidal Atrophy-Alopecia Syndrome	Sparse or absent eyelashes, Patchy atrophy of the retinal pigment epithelium, Abnormality of reti...	ORPHA:1433
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Acromegaly	Mandibular prognathia, Synophrys, Osteoarthritis, Widely spaced teeth, Pituitary prolactin cell a...	ORPHA:963
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Hereditary Mucoepithelial Dysplasia	Alopecia, Gingival overgrowth, Fine hair, Furrowed tongue, Sparse hair	ORPHA:1839
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Reduced bone mineral density, Prematur...	ORPHA:79474
Ring Chromosome 13 Syndrome	Aplasia/Hypoplasia of the thumb, Alopecia, Hypoplasia of the gallbladder, Posteriorly rotated ear...	ORPHA:96176
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Microphthalmia, Downslanted palpebral fissures, Chorioretinal coloboma	OMIM:619135
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia, Cataract, Iris coloboma	ORPHA:2250
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor...	OMIM:619638
Immunodeficiency, Common Variable, 12, With Autoimmunity	Thrombocytopenia, Alopecia, Autoimmune hemolytic anemia, Recurrent sinusitis	OMIM:616576
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin...	OMIM:259770
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula...	ORPHA:958
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,...	ORPHA:79408
Cat Eye Syndrome	Epicanthus, Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma	OMIM:115470
Gm1-Gangliosidosis, Type Ii	Generalized myoclonic seizure, Protruding tongue, Coxa valga, Splenomegaly, Joint stiffness, Ging...	OMIM:230600
Alstrom Syndrome	Pes planus, Alopecia, Decreased response to growth hormone stimulation test, Abnormality of the d...	OMIM:203800
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Inguinal hernia, Micrognathia, Cryptorchidism, Small hand, Cleft palate, D...	ORPHA:85276
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Edema of the dorsum of feet, Congenital d...	OMIM:601803
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, Hypoplastic toenails, High, narrow pal...	ORPHA:2753
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Kilquist Syndrome	Mandibular prognathia, Coxa valga, 2-3 toe syndactyly, Hypoplasia of teeth, Wide mouth, Bilateral...	OMIM:619080
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hy...	OMIM:276820
Spondyloocular Syndrome	Long toe, Pes planus, Osteopenia, Arachnodactyly, Femur fracture, Overlapping toe, Abnormality of...	OMIM:605822
Limb-Mammary Syndrome	Cleft hard palate, Protruding ear, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uv...	ORPHA:69085
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow	OMIM:617121
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Cleft soft palate, Hydrocephalus, Leukocytosis, Flexion contracture, Genu valgum, Downt...	OMIM:619321
Corneodermatoosseous Syndrome	Abnormal fingernail morphology, Abnormal dental enamel morphology, Hearing impairment, Carious te...	ORPHA:3194
Hartsfield Syndrome	Microphthalmia, Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2117
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Absent nipple, Toe syndactyly, Hypoplastic scapulae, Posteriorly rotated ...	OMIM:200980
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Hypercholesterolemia, Familial, 3	Xanthelasma, Corneal arcus	OMIM:603776
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis	ORPHA:1366
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy, Ptosis	OMIM:619473
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Telecanthus, Iris coloboma	ORPHA:1236
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Classic Mycosis Fungoides	Splenomegaly, Alopecia, Abnormal lymphocyte morphology, Abnormality of the nail	ORPHA:2584
Arterial Tortuosity Syndrome	Joint laxity, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Micrognathia, Hia...	OMIM:208050
Hypercholesterolemia, Familial, 1	Xanthelasma, Corneal arcus	OMIM:143890
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Chanarin-Dorfman Syndrome	Alopecia, Microtia, Everted lower lip vermilion, Sensorineural hearing impairment	OMIM:275630
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Inguinal hernia, Transient neutropenia, Chronic neutropenia, Abnormal thumb morphology, Metatarsu...	ORPHA:500095
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Pes planus, Abnormal dental morphology, Underdeveloped superior crus o...	ORPHA:369950
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Alopecia, Adrenal hyperplasia, Dorsocervical fat pad, Osteoporosis, Hirsutism	OMIM:615830
Deafness, X-Linked 7	Unilateral microphthalmos, Thick eyebrow	OMIM:301018
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Seizure, Hypoparathyroidism, Abnormal dental enamel morphology	ORPHA:2238
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp...	OMIM:182250
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Cerebellar hypoplasia, Talipes...	ORPHA:86822
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Anterior pituitary hypoplasia, Progressive hearing impairment, Cerebellar hypoplasia, P...	ORPHA:453533
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Cystic angiomatosis of bone, Reduced subcutaneous adipose tissue, Lipodyst...	OMIM:608594
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Retinal detachment, Epicanthus, Microcornea, Downslanted palpebral fissures, Ptosis	OMIM:225400
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Carious teeth, Pterygium of n...	OMIM:224230
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Conical incisor, Widely spaced primary teeth,...	OMIM:257980
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, P...	ORPHA:494444
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Seizure, Absent axillary hair, Ec...	ORPHA:2269
1Q21.1 Microdeletion Syndrome	Microphthalmia, Epicanthus, Cataract, Iris coloboma	ORPHA:250989
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, Ptosis	OMIM:252011
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	High-frequency hearing impairment, Tinnitus, Dentinogenesis imperfecta, Bilateral sensorineural h...	OMIM:605594
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Omenn Syndrome	Alopecia, Eosinophilia, Splenomegaly, Short toe, Leukocytosis, Anemia, Abnormal metaphysis morpho...	ORPHA:39041
1Q41Q42 Microdeletion Syndrome	Upslanted palpebral fissure, Abnormality iris morphology	ORPHA:250999
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Epicanthus, Downslanted palpebral fissures	OMIM:602501
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Hearing impairment, Thrombocytopenia,...	ORPHA:508542
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Micrognathia, Downturned corners of mouth, Conductive hearing impairment, Severe ...	OMIM:620186
Khan-Khan-Katsanis Syndrome	Trichiasis, Highly arched eyebrow, Epiblepharon, Corneal scarring, Buphthalmos, Pigmentary retino...	OMIM:618460
Mucopolysaccharidosis Type 1	Retinopathy, Optic atrophy, Corneal opacity	ORPHA:579
Bdv Syndrome	Cryptorchidism, Macrotia, Micrognathia	OMIM:619326
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Mosaic Variegated Aneuploidy Syndrome	Epicanthus, Cataract, Corneal opacity, Abnormality of skin pigmentation, Multiple cafe-au-lait sp...	ORPHA:1052
Trichotillomania	Alopecia	OMIM:613229
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Cystic angiomatosis of bone, Reduced subcutaneous adipose tissue, Lipodyst...	OMIM:269700
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Asplenia, Lobulated tongue, Dandy-Walker malformation, Acc...	OMIM:249000
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Adipose tissue loss, Flexion contracture, Premature graying of hair, Loss of f...	OMIM:256040
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Stevenson-Carey Syndrome	Microphthalmia, Downslanted palpebral fissures, Coloboma	OMIM:611961
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Microphthalmia, Cafe-au-lait spot, Short p...	OMIM:608670
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri...	ORPHA:93325
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Hurler Syndrome	Retinopathy, Abnormality of skin pigmentation, Corneal opacity, Thick eyebrow	ORPHA:93473
Hypercholesterolemia, Familial, 2	Xanthelasma, Corneal arcus	OMIM:144010
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure	OMIM:619869
Oculoectodermal Syndrome	Epicanthus, Chorioretinal atrophy, Hyperpigmented streaks, Microcornea, Eyelid coloboma, Astigmat...	OMIM:600268
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Reduced sub...	OMIM:137940
Curry-Jones Syndrome	Blepharophimosis, Microphthalmia, Iris coloboma	OMIM:601707
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Ectopia lentis, Optic atrophy	ORPHA:394
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Aspartylglucosaminuria	Mandibular prognathia, Pes planus, Inguinal hernia, Macroorchidism, Abnormal morphology of ulna, ...	ORPHA:93
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Bilateral ptosis, Pigmentary retinopathy	ORPHA:329336
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Nail dystrophy, Recurrent loss of toenails and fingernails, Amelogenesis imper...	OMIM:245660
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology	ORPHA:525
Pediatric Systemic Lupus Erythematosus	Alopecia, Oral ulcer, Leukopenia, Seizure, Arthritis, Microangiopathic hemolytic anemia, Lymphope...	ORPHA:93552
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Slow-growing nails, Thin nail, Short nail	OMIM:601319
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Multiple lipom...	OMIM:181270
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Preaxial polydactyly, Aplasi...	OMIM:615948
Lipoid Proteinosis Of Urbach And Wiethe	Scarring, Seizure, Patchy alopecia, Generalized non-motor (absence) seizure	OMIM:247100
Martsolf Syndrome 1	Epicanthus, Cataract, Developmental cataract, Microphthalmia, Downslanted palpebral fissures	OMIM:212720
Mosaic Trisomy 9	Upslanted palpebral fissure, Microphthalmia, Corneal opacity	ORPHA:99776
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge...	OMIM:149730
Peters-Plus Syndrome	Short lingual frenulum, Bilobate gallbladder, Proximal placement of thumb, Micrognathia, Hypoplas...	OMIM:261540
Intellectual Developmental Disorder, X-Linked 93	Pes planus, Macrotia, Cupped ear, Cryptorchidism	OMIM:300659
Bannayan-Riley-Ruvalcaba Syndrome	Micrognathia, Narrow palate, Seizure, Joint hyperflexibility, Long philtrum, Lipoma, Macrotia, Br...	ORPHA:109
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Cataract, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Microphthalmia, Ptosis	ORPHA:306542
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Meckel Syndrome	Cataract, Anophthalmia, Abnormal chorioretinal morphology, Sclerocornea, Optic atrophy, Microcorn...	ORPHA:564
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Corneal opacity, Absent eyelashes, Corneal erosion, Abnormality of sk...	ORPHA:920
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Palmoplantar keratoderma, Nail dystrophy, Premature loss of teeth,...	OMIM:618373
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Cryptorchidism, Hip dislocation, Rickets, Corneal scarring...	OMIM:309000
Joubert Syndrome 15	Retinopathy, Coloboma, Retinal dystrophy	OMIM:614464
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Epicanthus, Optic atrophy, Multiple cafe-au-lait spots, Upslanted palpebral fissure, Coloboma, Pe...	OMIM:616975
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Reduced bone mineral density, Glossoptos...	ORPHA:828
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Dermatoleukodystrophy	Macrotia, Large hands, Long foot	OMIM:221790
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Hypoplastic toenails, High, narrow palate, Reduced bone mineral density...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Hypoplastic toenails, High, narrow palate, Reduced bone mineral density...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Hypoplastic toenails, High, narrow palate, Reduced bone mineral density...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Hypoplastic toenails, High, narrow palate, Reduced bone mineral density...	ORPHA:881
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Abnormal hair morphology, ...	ORPHA:647
Joubert Syndrome 3	Epicanthus, Retinal dystrophy, Highly arched eyebrow, Pigmentary retinopathy, Ptosis	OMIM:608629
Hepatic Lipase Deficiency	Corneal arcus	OMIM:614025
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormal fingernail morphology, Underdeveloped antitragus, Abnormality...	ORPHA:2036
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys	ORPHA:261272
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Epicanthus, Cataract, Brushfield spots, Upslanted palpebral fissure, Pigmentar...	OMIM:214100
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Bilateral cryptorchidism, Macrotia, Hip dis...	OMIM:617403
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Wilson Disease	Kayser-Fleischer ring	ORPHA:905
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Entropion, Hypermelanotic macule, Keratitis, Optic atrophy...	ORPHA:910
Congenital Fibrosis Of Extraocular Muscles	Cataract, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Anisocoria, Congenital fi...	ORPHA:45358
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Cryptorchidism, Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced teeth, Recurrent otiti...	ORPHA:2728
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Sparse eyebrow, Developmental cataract, Microcornea, Microphthalmia, Downslanted palp...	ORPHA:464738
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Abnormal pinna morphology, Broad femoral neck, Small hand, Spina bifida occulta, Shor...	ORPHA:488434
Okamoto Syndrome	Omphalocele, Exaggerated median tongue furrow, Tented upper lip vermilion, Talipes, Open bite, Sp...	ORPHA:2729
Carpenter Syndrome	Abnormal cornea morphology	ORPHA:65759
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Anophthalmia, Abnormal optic nerve morphology	ORPHA:3412
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Synophrys, Optic atrophy, Pigmentary retinopathy, Opacification of the...	ORPHA:581
Tangier Disease	Corneal opacity, Ectropion	ORPHA:31150
Hemochromatosis, Type 1	Splenomegaly, Alopecia, Osteoporosis, Testicular atrophy	OMIM:235200
Familial Multiple Lipomatosis	Odontogenic keratocysts of the jaw, Bowing of the long bones, Lipodystrophy, Increased adipose ti...	ORPHA:199276
Xfe Progeroid Syndrome	Absence of subcutaneous fat, Corneal scarring, Premature loss of teeth, Pes cavus, Enamel hypopla...	OMIM:610965
Chromosome 13Q14 Deletion Syndrome	Epicanthus, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Retinoblastoma	OMIM:613884
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Abnormal hair pattern	ORPHA:2717
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Biotinidase Deficiency	Alopecia, Splenomegaly, Sensorineural hearing impairment, Seizure, Diffuse cerebellar atrophy	OMIM:253260
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, Cataract, White forelock	ORPHA:902
Coach Syndrome 2	Coloboma, Chorioretinal coloboma	OMIM:619111
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Sandal gap, Malar prominence, Cleft upper lip, Micrognath...	OMIM:251260
Mucopolysaccharidosis, Type Vii	Epicanthus, Corneal opacity, Thick eyebrow	OMIM:253220
Olmsted Syndrome 2	Cheilitis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Flexion contracture of digit, S...	OMIM:619208
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Joubert Syndrome 16	Coloboma, Retinal dystrophy	OMIM:614465
Fryns Syndrome	Microphthalmia, Corneal opacity	ORPHA:2059
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Highly arched eyebrow, Cryptorchidism, Widow's peak, Short toe, O...	ORPHA:1519
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap...	ORPHA:637
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Tbck-Related Intellectual Disability Syndrome	Epicanthus, Corneal opacity, Synophrys, Upslanted palpebral fissure, Thick eyebrow	ORPHA:488632
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Mucoepithelial Dysplasia, Hereditary	Alopecia, Eosinophilia, Erythematous oral mucosa, Furrowed tongue, Coarse hair, Nail dystrophy, N...	OMIM:158310
Aicardi Syndrome	Retinal detachment, Cataract, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Micropht...	OMIM:304050
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Immunodeficiency 10	Thrombocytopenia, Autoimmune hemolytic anemia, Nail dysplasia, Amelogenesis imperfecta	OMIM:612783
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Tetrasomy 9P	Glue ear, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum...	ORPHA:3310
Solitary Median Maxillary Central Incisor	Microphthalmia, Cyclopia, Anophthalmia, Coloboma	OMIM:147250
Phocomelia, Schinzel Type	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Protruding ear, Foot ol...	ORPHA:2879
Spondylodysplastic Ehlers-Danlos Syndrome	Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Optic disc coloboma, Meg...	ORPHA:536471
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Craniosynostosis, Recurrent fractures, Seizure, Myoclonus, Epi...	ORPHA:251004
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma	OMIM:251290
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Lathosterolosis	Epicanthus, Cataract, Microcornea, Opacification of the corneal stroma, Downslanted palpebral fis...	ORPHA:46059
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Seizure, Coombs-positive hemolytic a...	OMIM:304790
Lead Poisoning	Delayed eruption of teeth, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell...	ORPHA:330015
Pallister-Hall Syndrome	Gonadotropin deficiency, Holoprosencephaly, Bifid uvula, Microretrognathia, Mesoaxial polydactyly...	ORPHA:672
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Hiatus hernia, Persistence of primary teeth, Persistence of hemoglobin F, Seizur...	OMIM:619769
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Alopecia totalis	OMIM:300918
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Hyperautofluorescent macula...	OMIM:209900
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Recurrent fractures, ...	OMIM:231070
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Anterior pituitary hy...	ORPHA:464306
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Synophrys, Microcornea, Upslanted palpebral fissure, Blepharophimosis, Microphthalmia...	OMIM:616734
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Astigmatism, Corneal opacity, Optic disc pallor	ORPHA:464311
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty...	OMIM:119100
Alpha-Mannosidosis, Infantile Form	Optic disc pallor, Cataract, Corneal opacity, Highly arched eyebrow, Astigmatism	ORPHA:309282
Peroxisome Biogenesis Disorder 5A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pi...	OMIM:614866
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Dyskeratosis Congenita, Digenic	Decreased testicular size, Alopecia, Sparse eyelashes, Abnormality of the dentition, Nail dystrop...	OMIM:620040
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Smooth philtrum, Megaloblastic anemia, Hydrocephalus, Seizure, Low-set ears, Neutropenia, Macroti...	OMIM:277400
Mixed Connective Tissue Disease	Hemolytic anemia, Alopecia, Joint stiffness, Splenomegaly, Osteolysis, Leukopenia, Seizure, Arthr...	ORPHA:809
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Uter...	OMIM:613795
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Optic nerve hypoplasia, Almond-shaped palpebral fissure, Coloboma, Abnormal op...	ORPHA:508498
Hartsfield Syndrome	Syndactyly, Median cleft lip, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Craniosyn...	OMIM:615465
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy, Ptosis	OMIM:256000
Mosaic Trisomy 1	Congenital bilateral ptosis, Microphthalmia, Downslanted palpebral fissures, Opacification of the...	ORPHA:1692
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Clinodactyly...	OMIM:136140
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Orbital cyst, Iris coloboma	OMIM:109400
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Alagille Syndrome 1	Cataract, Band keratopathy, Abnormal anterior chamber morphology, Chorioretinal atrophy, Microcor...	OMIM:118450
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters	ORPHA:79403
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Restrictive Dermopathy	Osteopenia, Natal tooth, Aplasia/Hypoplasia of the clavicles, Multiple joint contractures, Short ...	ORPHA:1662
Sézary Syndrome	Alopecia, Splenomegaly, Palmoplantar keratoderma, Nail dystrophy, Abnormal lymphocyte morphology	ORPHA:3162
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Telecanthus, Optic nerve hypoplasia, Bilateral microphthalmos, Eyelid coloboma, Hyperpigmented nevi	OMIM:607597
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Synophrys, Short philtrum, Joint contracture of the 5th finger, Prominent fingertip p...	ORPHA:363611
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Wolf-Hirschhorn Syndrome	Epicanthus, Sclerocornea, Highly arched eyebrow, Optic atrophy, Retinopathy, Megalocornea, Downsl...	ORPHA:280
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Chronic Mucocutaneous Candidiasis	Abnormal fingernail morphology, Abnormal dental enamel morphology, Cheilitis, Broad nail, Seizure...	ORPHA:1334
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Hydrocephalus, Hypocalcemic se...	OMIM:612301
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Hypoplastic toenails, Synoph...	ORPHA:444077
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Periungual erythema, Dystrophic fingernails, Absent eyebrow, Alopecia, Subungual hyperk...	OMIM:308205
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Optic atrophy	ORPHA:324
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Axenfeld anomaly	OMIM:266270
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia,...	ORPHA:1652
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Cheilitis, Abnormality of the ton...	ORPHA:37
Braddock-Carey Syndrome 2	Microphthalmia, Downslanted palpebral fissures	OMIM:619981
Revesz Syndrome	Exudative retinopathy, Megalocornea, Fine, reticulate skin pigmentation, Leukocoria	OMIM:268130
Thakker-Donnai Syndrome	Communicating hydrocephalus, Posteriorly rotated ears, Congenital diaphragmatic hernia, Downturne...	ORPHA:1780
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Thauvin-Robinet-Faivre Syndrome	Pes planus, Inguinal hernia, Transient neutropenia, Bowing of the legs, Macrotia, Sensorineural h...	OMIM:617107
Holocarboxylase Synthetase Deficiency	Growth delay, Alopecia	ORPHA:79242
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Viss Syndrome	Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broad uvula, Bifid uvul...	OMIM:619472
Abetalipoproteinemia	Abnormality of retinal pigmentation, Keratoconjunctivitis sicca, Corneal ulceration, Rod-cone dys...	ORPHA:14
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har...	ORPHA:261537
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Holoprosencephaly-Craniosynostosis Syndrome	Upslanted palpebral fissure, Abnormality of retinal pigmentation, Epicanthus, Short palpebral fis...	ORPHA:2163
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Microphthalmia, Downslanted p...	OMIM:620098
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Hyperconvex nail, Wide distal femoral metaphysis, Thickened cort...	OMIM:269150
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op...	ORPHA:580
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Craniosynostosis 2	Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Seizure, Triphala...	OMIM:604757
Joubert Syndrome 37	Sparse hair, Microphthalmia	OMIM:619185
Giant Cell Arteritis	Alopecia, Joint stiffness, Vertigo, Arthritis, Conductive hearing impairment, Glossitis, Hearing ...	ORPHA:397
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Onycholysis, Marked delay in eruption of permanent teeth, Yel...	OMIM:104570
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Alopecia, Osteomyelitis, Nail bed telangiectasi...	ORPHA:90291
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Abnormal fingernail morphology, Micromelia, Dum...	ORPHA:3144
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Severe B lymphocytopenia, Alopecia totalis, Decreased response to growth hormone stimul...	ORPHA:293978
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op...	ORPHA:217085
Autoimmune Polyendocrinopathy Type 2	Alopecia	ORPHA:3143
22Q11.2 Deletion Syndrome	Micrognathia, Short philtrum, Hypoplasia of the thymus, Conductive hearing impairment, Chronic ot...	ORPHA:567
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Blepharophimosis, Microphth...	ORPHA:404440
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op...	ORPHA:217093
Mend Syndrome	Telecanthus, Cataract, Spotty hypopigmentation, Upslanted palpebral fissure, Microphthalmia	ORPHA:401973
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis, Palmoplantar h...	ORPHA:79395
Blau Syndrome	Nongranulomatous uveitis, Cataract, Band keratopathy, Uveitis, Iritis, Cystoid macular edema	OMIM:186580
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A...	ORPHA:158668
Isolated Exencephaly	Anterior pituitary hypoplasia, Abnormal facial skeleton morphology, Holoprosencephaly, Low-set ea...	ORPHA:563612
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Sensorineural hearing impairment, Abnormal granulocyte morphology, Eclabion, Small earlobe	ORPHA:98907
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Mandibular prognathia, High, narrow palate, Long philtrum, Macrotia, Thick eyebrow	ORPHA:457212
Pontocerebellar Hypoplasia Type 7	Olivopontocerebellar hypoplasia, Micrognathia, Cryptorchidism, Seizure, High palate, Myoclonus, M...	ORPHA:284339
Immunodeficiency 9	Stomatitis, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Cyclopia, Iris coloboma	ORPHA:3186
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Cryptorchidism, Humeroradial synos...	OMIM:134780
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Facial Spasm	Anisocoria	OMIM:134300
Peters Plus Syndrome	Cataract, Corneal opacity, Optic atrophy, Microcornea, Upslanted palpebral fissure, Peters anomal...	ORPHA:709
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Kindler Epidermolysis Bullosa	Finger syndactyly, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodact...	ORPHA:2908
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Ring Chromosome 10 Syndrome	Microphthalmia, Downslanted palpebral fissures	ORPHA:1438
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Cataract, Ptosis	OMIM:607459
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Micr...	OMIM:610706
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har...	ORPHA:2152
Sotos Syndrome	Cerebellar vermis hypoplasia, No permanent dentition, Flexion contracture, Pedal edema, Conductiv...	ORPHA:821
Joubert Syndrome 2	Microphthalmia, Optic disc coloboma, Retinal dystrophy, Chorioretinal coloboma	OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c...	OMIM:157170
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Dorsocervical fat pad, Pituitary adenoma, Primary hyperparathyroidism, Osteoporosis, In...	ORPHA:189427
Adrenoleukodystrophy	Seizure, Alopecia, Hearing impairment	OMIM:300100
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Epicanthus	ORPHA:3191
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Splenomegaly, Hypocalcification of dental enamel, Chronic otitis media, Thrombo...	ORPHA:169090
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling, Telecanthus	OMIM:617102
Townes-Brocks Syndrome 1	Short metatarsal, Holoprosencephaly, Triphalangeal thumb, 2-4 finger syndactyly, Cryptorchidism, ...	OMIM:107480
Tuberous Sclerosis 1	Dental enamel pits, Epileptic spasm, Infantile spasms, Gingival fibromatosis, Seizure, Adenoma se...	OMIM:191100
Woodhouse-Sakati Syndrome	Osteopenia, Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Protru...	ORPHA:3464
Pmm2-Cdg	Mandibular prognathia, Osteopenia, Cerebellar vermis hypoplasia, Multiple joint contractures, Hig...	ORPHA:79318
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Knobloch Syndrome 2	Encephalocele, Seizure, Enamel hypoplasia, Micrognathia	OMIM:618458
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Microphthalmia, Downslanted palp...	OMIM:235730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har...	ORPHA:261552
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Congenital Disorder Of Deglycosylation 1	Corneal ulceration, Corneal opacity, Ptosis	OMIM:615273
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Moebius Syndrome	Epicanthus, Microphthalmia, Congenital fibrosis of extraocular muscles	OMIM:157900
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Unilateral microphthalmos	OMIM:615085
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas, Ptosis	OMIM:560000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Chronic neutropenia, Carious teeth, Osteoporosis, Oral ulcer, Gingivitis, Hypoglycemi...	ORPHA:79259
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Biotinidase Deficiency	Alopecia, Bilateral tonic-clonic seizure, Infantile spasms, Myelopathy, Sensorineural hearing imp...	ORPHA:79241
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation, Cataract	ORPHA:466768
Larsen Syndrome	Corneal opacity, Shallow orbits	OMIM:150250
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Marcus-Gunn Syndrome	Unilateral ptosis, Coloboma, Morning glory anomaly	ORPHA:91412
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Lagophthalmos, Bilateral ptosis, Optic atrophy, Corne...	ORPHA:404454
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Hearing impairment, Thick lower lip vermilion, Broad isc...	OMIM:619727
Myoclonic-Astatic Epilepsy	Microphthalmia, Frontal balding	ORPHA:1942
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Oligodontia, Humeral pseudarthrosis, Short philtrum, Conductive hearin...	ORPHA:2044
Fetal Alcohol Syndrome	Microphthalmia, Epicanthus, Telecanthus, Ptosis	ORPHA:1915
Charge Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin deficiency, Han...	OMIM:214800
Schimke Immunoosseous Dysplasia	Astigmatism, Hypermelanotic macule, Opacification of the corneal stroma	OMIM:242900
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating...	OMIM:609441
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Osteoarthritis, Ging...	ORPHA:286
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Abnormality of the hairline	OMIM:248450
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Fanconi Anemia	Epicanthus, Cataract, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Hypopigmented ...	ORPHA:84
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Hepatosplenomegaly, Seizure, Stomatocy...	ORPHA:168577
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Cryptorchidism, Split hand, Clubbing, Cleft palate, Low-set ears, Hypoplastic he...	OMIM:600460
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Epicanthus	OMIM:618494
Genitopatellar Syndrome	Delayed eruption of teeth, Sparse scalp hair, Hip contracture, Congenital hip dislocation, Hearin...	OMIM:606170
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Reduced bone mineral density, Abnormality of the nail, ...	ORPHA:428
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Toe syndactyly, Supernumerary nipple, Cleft upper lip, Cleft palate, Sei...	OMIM:100300
Ciliary Dyskinesia, Primary, 1	Abnormal cornea morphology	OMIM:244400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Epicanthus, Telecanthus, Optic atrophy, Long eyelashes, Conj...	ORPHA:505248
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Cerebrooculofacioskeletal Syndrome 4	Blepharophimosis, Bilateral microphthalmos, Abnormal retinal morphology	OMIM:610758
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Corneal opacity, Ptosis	ORPHA:2072
Gaucher Disease	Corneal opacity, Abnormality of skin pigmentation, Cherry red spot of the macula, Retinopathy, Ab...	ORPHA:355
3P25.3 Microdeletion Syndrome	Blepharophimosis, Microphthalmia, Epicanthus, Downslanted palpebral fissures	ORPHA:435638
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Coloboma, Eyelid coloboma, Opacification of the corneal stroma, Shallo...	OMIM:268300
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Cheilitis, Oral ulcer, Abnormal pigmentation of the oral mucosa, Leuk...	ORPHA:536
Marden-Walker Syndrome	Blepharophimosis, Microphthalmia, Epicanthus, Ptosis	OMIM:248700
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Distichiasis	OMIM:600462
Lathosterolosis	Epicanthus, Cataract, Opacification of the corneal stroma, Downslanted palpebral fissures, Ptosis	OMIM:607330
Insulin-Resistance Syndrome Type B	Alopecia, Enlarged ovaries, Enlarged polycystic ovaries, Osteoarthritis, Hirsutism, Polycystic ov...	ORPHA:2298
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Branchiooculofacial Syndrome	Telecanthus, Anophthalmia, Cataract, Nasolacrimal duct obstruction, Upslanted palpebral fissure, ...	OMIM:113620
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Pigmentary retinopathy, Downslanted palpebral fissures	ORPHA:110
Alzahrani-Kuwahara Syndrome	Posteriorly rotated ears, Micrognathia, Narrow philtrum, Thick vermilion border, Hypodontia, Low-...	OMIM:619268
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy, Ptosis	OMIM:612291
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl...	ORPHA:167
Relapsing Polychondritis	Alopecia, Chondritis of pinna, Vertigo, Sensorineural hearing impairment, Limitation of joint mob...	ORPHA:728
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Alopecia, Macrocytic anemia, Autoimmune thrombocytopenia, Anterior pituitary dysgenes...	ORPHA:227990
Congenital Disorder Of Glycosylation, Type Im	Sparse eyebrow, Alopecia, Sparse eyelashes	OMIM:610768
Autosomal Dominant Cutis Laxa	Ptosis, Corneal opacity, Developmental cataract	ORPHA:90348
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Alopecia, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopen...	ORPHA:227982
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Ptosis	OMIM:146500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:37042
Van Den Ende-Gupta Syndrome	Blepharophimosis, Abnormal eyebrow morphology, Sclerocornea	OMIM:600920
Hereditary Acrokeratotic Poikiloderma	Hypopigmented skin patches, Keratoconjunctivitis, Opacification of the corneal stroma, Irregular ...	ORPHA:2907
Woodhouse-Sakati Syndrome	Alopecia, Hearing impairment, Sensorineural hearing impairment, Fine hair, Protruding ear, Sparse...	OMIM:241080
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Long eyelashes, Abnormal dental enamel morphology, Neutropenia	ORPHA:79430
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Chromosome 1Q41-Q42 Deletion Syndrome	Sparse eyebrow, Microphthalmia, Upslanted palpebral fissure, Downslanted palpebral fissures	OMIM:612530
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy, Narr...	OMIM:614748
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Intrauterine growth retardation, Alopecia totalis	OMIM:618775
Pseudotrisomy 13 Syndrome	Upslanted palpebral fissure, Microphthalmia, Cyclopia	OMIM:264480
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Epicanthus, Retinal pigment epithelial mottling	OMIM:618733
Holocarboxylase Synthetase Deficiency	Seizure, Alopecia, Thrombocytopenia	OMIM:253270
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Blepharophimosis, Microphthalmia, Cataract	OMIM:620005
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t...	OMIM:603554
Aceruloplasminemia	Blepharospasm, Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma	OMIM:615287
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Abscess, ...	ORPHA:125
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Ohdo Syndrome, X-Linked	Epicanthus, Sparse eyebrow, Blepharophimosis, Microphthalmia, Cafe-au-lait spot, Downslanted palp...	OMIM:300895
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Neonatal Marfan Syndrome	Iridodonesis, Megalocornea, Downslanted palpebral fissures, Ectopia lentis	ORPHA:284979
Cystinosis, Nephropathic	Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm...	OMIM:219800
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Tetraamelia Syndrome 1	Microphthalmia, Cataract	OMIM:273395
Pearson Syndrome	Cataract, Corneal stromal edema, Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of ...	ORPHA:699
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Phakomatosis Pigmentokeratotica	Spina bifida, Cryptorchidism, Seizure, Patchy alopecia, Pheochromocytoma, Hemiatrophy, Hypophosph...	ORPHA:2874
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neutropenia, Recur...	OMIM:615387
Kearns-Sayre Syndrome	Pigmentary retinopathy, Ptosis	OMIM:530000
Myhre Syndrome	Cataract, Narrow palpebral fissure, Blepharophimosis, Microphthalmia, Thick eyebrow	OMIM:139210
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy, Abnormality of globe size	ORPHA:502423
Fryns Syndrome	Blepharophimosis, Microphthalmia, Narrow palpebral fissure, Opacification of the corneal stroma	OMIM:229850
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Pancreatic fibrosis, Pancreatic cysts, Early ossification of capital femo...	OMIM:208500
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy, Ptosis	ORPHA:436271
Teebi-Shaltout Syndrome	Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Sparse hair, Microphthalmia	OMIM:272950
Microphthalmia, Syndromic 1	Anophthalmia, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Mi...	OMIM:309800
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Short stature, Hirsutism	ORPHA:90795
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Melanocytic nevus, Multiple cafe-au-lait spots, Generalized ...	ORPHA:1969
Mucolipidosis Ii Alpha/Beta	Epicanthus, Palpebral edema, Sparse eyebrow, Opacification of the corneal stroma, Megalocornea, H...	OMIM:252500
Townes-Brocks Syndrome	Cataract, Blepharophimosis, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:857
Leprosy	Absent eyebrow, Alopecia, Autoamputation of digits, Abnormality of the spleen, Loss of eyelashes,...	ORPHA:548
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Epicanthus, Cataract, Sutural cataract, Highly arched eyebrow, Synophrys, Nuclear pulverulent cat...	OMIM:612474
Gardner Syndrome	Neoplasm of the pancreas, Abnormality of the dentition, Pilomatrixoma, Supernumerary tooth, Odont...	ORPHA:79665
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, Ptosis	OMIM:220110
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seizure, Alopecia	OMIM:210210
Roberts Syndrome	Microphthalmia, Cataract	ORPHA:3103
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids	OMIM:175100
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Proximal Renal Tubular Acidosis	Coloboma, Cataract, Band keratopathy	ORPHA:47159
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Inguinal hernia, Rickets, Reduced bone mineral density, A...	OMIM:613658
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Kikuchi-Fujimoto Disease	Alopecia, Thrombocytopenia, Splenomegaly, Oral ulcer, Enlargement of parotid gland, Leukopenia, L...	ORPHA:50918
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy...	ORPHA:157850
Tibial Hemimelia	Absent tibia	OMIM:275220
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Abnormal pinna morphology, Micrognathia, Cryptorchidism, Humeror...	ORPHA:3404
Wilson Disease	Kayser-Fleischer ring	OMIM:277900
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Cataract, Developmental cataract	OMIM:606721
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Ret...	ORPHA:79282
Juvenile Dermatomyositis	Arthritis, Alopecia, Limitation of joint mobility	ORPHA:93672
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epicanthus, Keratoconjunctivitis sicca, Ptosis	ORPHA:285
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Abnormality of the dentition, Supernumerary tooth, Pituitary adenoma, ...	ORPHA:733
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis	ORPHA:363618
Sarcoidosis	Hemolytic anemia, Alopecia, Eosinophilia, Scarring, Thrombocytopenia, Increased T cell count, Bon...	ORPHA:797
Galloway-Mowat Syndrome 3	Microphthalmia, Epicanthus, Downslanted palpebral fissures	OMIM:617729
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Monosomy 9P	Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Micr...	ORPHA:261112
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Iron deficiency anemia, Alopecia, Seizure	OMIM:269200
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Seizure, Macrotia, Chondrocalcinosis	OMIM:241200
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Steinert Myotonic Dystrophy	Alopecia, Tented upper lip vermilion, Decreased response to growth hormone stimulation test, Abno...	ORPHA:273
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Colchicine Poisoning	Leukocytosis, Alopecia	ORPHA:31824
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Fanconi Anemia, Complementation Group C	Microphthalmia, Epicanthus, Cafe-au-lait spot, Hyperpigmentation of the skin	OMIM:227645
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Cyclopia	ORPHA:2166
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Fanconi Anemia, Complementation Group F	Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin	OMIM:603467
Johanson-Blizzard Syndrome	Joint laxity, Sparse scalp hair, Splenomegaly, Sensorineural hearing impairment, Cryptorchidism, ...	OMIM:243800
Behcet Syndrome	Arthritis, Patchy alopecia, Oral ulcer	OMIM:109650
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Optic nerve hypoplasia, Bilateral microphthalmos, Abnormality of the orbital r...	ORPHA:468631
Digeorge Syndrome	Blepharophimosis, Posterior embryotoxon, Short palpebral fissure, Sclerocornea	OMIM:188400
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Bilateral microphthalmos, Upper eyelid coloboma, ...	OMIM:154500
Fanconi Anemia, Complementation Group E	Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin	OMIM:600901
Fanconi Anemia, Complementation Group D2	Blepharophimosis, Microphthalmia, Cafe-au-lait spot, Abnormality of skin pigmentation	OMIM:227646
Fanconi Anemia, Complementation Group A	Abnormality of skin pigmentation, Microphthalmia, Cafe-au-lait spot	OMIM:227650
Melas	Pigmentary retinopathy, Optic atrophy, Vitiligo	ORPHA:550
Fanconi Anemia, Complementation Group L	Upslanted palpebral fissure, Microphthalmia, Cafe-au-lait spot	OMIM:614083
Fontaine Progeroid Syndrome	Sparse scalp hair, Absent nipple, Synophrys, Low anterior hairline, Low posterior hairline, Coars...	OMIM:612289
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Hyperpigmentation of the skin, Optic atrophy, Blepharospasm, Pigmentary retinopat...	OMIM:234200
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Fraser Syndrome 2	Microphthalmia, Low anterior hairline	OMIM:617666
Chronic Graft Versus Host Disease	Alopecia, Pancytopenia, Fasciitis, Flexion contracture, Arthritis, Onycholysis, Nail dystrophy	ORPHA:99921
Isolated Arrhinia	Microphthalmia, Eyelid coloboma	ORPHA:1134
Microphthalmia, Syndromic 9	Blepharophimosis, Anophthalmia, Bilateral microphthalmos	OMIM:601186
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus	OMIM:130050
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Seizure, Sh...	ORPHA:60015
African Trypanosomiasis	Alopecia, Splenomegaly, Myelopathy, Hepatosplenomegaly, Abnormal prolactin level, Seizure	ORPHA:3385
Yunis-Varon Syndrome	Epicanthus, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Upslanted palpebral fissure	OMIM:216340
Holoprosencephaly 1	Microphthalmia, Cyclopia	OMIM:236100
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Craniofacial Microsomia 1	Anophthalmia, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Microphthalmia, Ptosis	OMIM:164210
Hardikar Syndrome	Pigmentary retinopathy, Lacrimal duct stenosis	OMIM:301068
Parietal Foramina 1	Encephalocele, Seizure, Cleft palate, Cleft upper lip	OMIM:168500
Parietal Foramina With Cleidocranial Dysplasia	Microtia, Short clavicles	OMIM:168550

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 Msx2

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 Msx2.

No publications found that use IMPC mice or data for Msx2.

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.

MGI Allele	Allele Type	Produced
Msx2^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Msx2^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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