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 |
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Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
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Delayed eruption of teeth, Multifocal seizures, Status epilepticus, Hypodontia, Amelogenesis impe... |
OMIM:615905 |
Congenital Disorder Of Glycosylation, Type Ia |
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Cerebellar atrophy, Thin upper lip vermilion, Dilated fourth ventricle, Cerebellar vermis hypopla... |
OMIM:212065 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Generalized-onset seizure, Focal-onset seizure, Leukocytosis, Anterior open-bite malocclusion, St... |
ORPHA:83601 |
Kabuki Syndrome |
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Congenital diaphragmatic hernia, Orofacial cleft, Protruding ear, High palate, Widely spaced teet... |
ORPHA:2322 |
Cousin Syndrome |
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Micrognathia, Low anterior hairline, Prominent protruding coccyx, Hypoplastic iliac wing, Clinoda... |
OMIM:260660 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic... |
ORPHA:93324 |
Omodysplasia 1 |
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Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... |
OMIM:258315 |
Auriculoosteodysplasia |
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Attached earlobe, Aplasia/Hypoplasia of the earlobes, Hip dysplasia, Aplasia/Hypoplasia of the ra... |
ORPHA:114 |
Phace Association |
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Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... |
OMIM:606519 |
Rubinstein-Taybi Syndrome |
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Micrognathia, High palate, Clinodactyly of the 5th finger, Generalized hirsutism, Finger syndacty... |
ORPHA:783 |
3Mc Syndrome 3 |
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Corneal opacity, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:248340 |
Wrinkly Skin Syndrome |
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Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Sparse hair, Microdontia, Microre... |
OMIM:278250 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Retinal detachment, Epicanthus, Anophthalmia, Cataract, Chorioretinal dysplasia, Abnormal nasolac... |
ORPHA:2526 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
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Sparse eyelashes, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Hypoplasia of ... |
OMIM:106260 |
Dyschondrosteosis-Nephritis Syndrome |
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Corneal opacity |
ORPHA:1765 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
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Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Pigmentary retinopathy |
ORPHA:88628 |
Odontomicronychial Dysplasia |
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Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Thin na... |
ORPHA:1811 |
Martsolf Syndrome 2 |
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Macrotia, Overlapping toe, Camptodactyly of finger, Camptodactyly |
OMIM:619420 |
Hypotonia-Cystinuria Syndrome |
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Tented upper lip vermilion, Posteriorly rotated ears, Decreased response to growth hormone stimul... |
OMIM:606407 |
Autosomal Recessive Cutis Laxa Type 2A |
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Downslanted palpebral fissures, Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Congenital Stationary Night Blindness |
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Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Atelosteogenesis Type Iii |
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Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Micrognathi... |
ORPHA:56305 |
Kniest Dysplasia |
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Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductive hearing impairment, Abnorma... |
OMIM:156550 |
Atelis Syndrome 2 |
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Epicanthus, Remnants of the hyaloid vascular system, Developmental cataract, Vitreous hemorrhage,... |
OMIM:620185 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
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Pigmentary retinopathy |
OMIM:619090 |
Monosomy 9Q22.3 |
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Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Hydrocephalus, Pl... |
ORPHA:77301 |
Retinitis Pigmentosa 76 |
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Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Mucopolysaccharidosis, Type Vi |
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Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Hypoplasia of the odontoid pro... |
OMIM:253200 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
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Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Conjunctivitis, Blepharitis, Ectr... |
OMIM:308800 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Cryptorchidism... |
OMIM:619718 |
Chromosome 18P Deletion Syndrome |
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Toe syndactyly, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Coxa vara, High palate, R... |
OMIM:146390 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Sparse eyelashes, Rhizomelia, Postaxial polydactyly, Abnormal pinna morphology, Sparse eyebrow, E... |
OMIM:302960 |
Congenital Ichthyosiform Erythroderma |
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Alopecia, Abnormality of the nail, Hypohidrosis |
ORPHA:79394 |
Musculocontractural Ehlers-Danlos Syndrome |
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Microretrognathia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Inguinal hernia, ... |
ORPHA:2953 |
Retinitis Pigmentosa 90 |
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Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Familial Dysautonomia |
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Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis |
ORPHA:1764 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Iris coloboma |
OMIM:309801 |
Lacrimoauriculodentodigital Syndrome |
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Micrognathia, Orofacial cleft, Microdontia, Conductive hearing impairment, Abnormal salivary glan... |
ORPHA:2363 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Microphthalmia, Cafe-au-lait spot, Short p... |
ORPHA:364577 |
Barth Syndrome |
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Mandibular prognathia, Cyclic neutropenia, Macrotia, Hypochromic microcytic anemia, Granulocytope... |
OMIM:302060 |
Tooth Agenesis, Selective, 3 |
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Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal fingernail morphology, Abnorm... |
OMIM:604625 |
Spermatogenic Failure 81 |
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Multiple non-erupting secondary teeth |
OMIM:620277 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Multiple joint contractures, Metaphyseal widening, Metaphyseal chondromatosis of radius, Abnormal... |
ORPHA:99646 |
Trichorhinophalangeal Syndrome, Type Ii |
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Mandibular prognathia, Osteopenia, Micrognathia, Bilateral cryptorchidism, Deep philtrum, Protrud... |
OMIM:150230 |
Acrofacial Dysostosis, Catania Type |
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Microretrognathia, Smooth philtrum, Finger syndactyly, Low-set, posteriorly rotated ears, Inguina... |
ORPHA:1786 |
Idiopathic Trachyonychia |
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Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Delayed eruption of teeth, Cerebellar atrophy, Limb joint contracture, Tapered finger, Splenomega... |
OMIM:301072 |
Asparagine Synthetase Deficiency |
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Dilated fourth ventricle, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Clo... |
OMIM:615574 |
Intellectual Developmental Disorder, X-Linked 98 |
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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 |
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Hypoparathyroidism, Alopecia, Asplenia, Tympanosclerosis, Nail dystrophy, Cholelithiasis, Enamel ... |
OMIM:240300 |
Cole-Carpenter Syndrome 1 |
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Communicating hydrocephalus, Osteopenia, Recurrent fractures, Micrognathia, Hydrocephalus, Reduce... |
OMIM:112240 |
Alpha-Heavy Chain Disease |
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Growth delay, Alopecia |
ORPHA:100025 |
Coffin-Siris Syndrome |
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Low anterior hairline, Hernia, Dandy-Walker malformation, Joint laxity, Cryptorchidism, Prominent... |
ORPHA:1465 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
Carabelli Anomaly Of Maxillary Molar Teeth |
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Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Weill-Marchesani Syndrome 2 |
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Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... |
OMIM:608328 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
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Epicanthus, Microcornea, Upslanted palpebral fissure, Blepharophimosis, Microphthalmia, Short pal... |
OMIM:156610 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
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Brittle hair, Arachnodactyly, Camptodactyly of finger, Carious teeth, Sensorineural hearing impai... |
ORPHA:1883 |
Cole-Carpenter Syndrome 2 |
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Microretrognathia, Osteopenia, Recurrent fractures, Hydrocephalus, High palate, Lambdoidal cranio... |
OMIM:616294 |
Osteogenesis Imperfecta, Type Xi |
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Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Coxa vara, Increased suscepti... |
OMIM:610968 |
Mmep Syndrome |
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Microphthalmia |
ORPHA:3434 |
Osteomesopyknosis |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Short-Rib Thoracic Dysplasia 12 |
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Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Hamartoma of tongue, Short t... |
OMIM:269860 |
Trichodermodysplasia-Dental Alterations Syndrome |
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Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... |
ORPHA:3353 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Telecanthus, Corneal opacity, Optic nerve hypoplasia, Astigmatism, Downslanted palpebral fissures |
OMIM:301056 |
Van Der Woude Syndrome 2 |
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Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Oligoarticular Juvenile Idiopathic Arthritis |
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Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy |
ORPHA:85410 |
Donohue Syndrome |
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Adipose tissue loss, Macrotia, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Ovaria... |
OMIM:246200 |
Dermotrichic Syndrome |
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Hyperconvex toenail, Seizure, Nail dystrophy, Macrotia, Anemia |
ORPHA:99688 |
Cole-Carpenter Syndrome |
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Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b... |
ORPHA:2050 |
Chromosome 11P13 Deletion Syndrome, Distal |
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Aniridia |
OMIM:616902 |
Retinitis Pigmentosa 68 |
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Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Cardiospondylocarpofacial Syndrome |
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Brachydactyly, High, narrow palate, Short palm, Conductive hearing impairment, Failure of eruptio... |
ORPHA:3238 |
Congenital Bile Acid Synthesis Defect Type 4 |
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Pigmentary retinopathy, Cataract |
ORPHA:79095 |
Coats Disease |
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Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo... |
ORPHA:536467 |
Osteopetrosis, Autosomal Dominant 1 |
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Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi... |
OMIM:607634 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Generalized-onset seizure, Decreased response to growth hormone stimulation test, Calcaneovalgus ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Generalized-onset seizure, Decreased response to growth hormone stimulation test, Calcaneovalgus ... |
ORPHA:363958 |
Adult Syndrome |
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Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Finger syndactyly, Toe sy... |
ORPHA:978 |
Steatocystoma Multiplex With Natal Teeth |
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Natal tooth, Abnormality of the nail |
OMIM:184510 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Short palm, Pes planus, Dental crowding, Abnormality of the dentition, Micrognathia, Unilateral r... |
ORPHA:476126 |
Primrose Syndrome |
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Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion... |
OMIM:259050 |
Bosma Arhinia Microphthalmia Syndrome |
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Inguinal hernia, Paranasal sinus hypoplasia, Abnormal pinna morphology, Absent tragus, Cleft lip,... |
OMIM:603457 |
Retinitis Pigmentosa 61 |
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Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Proteus-Like Syndrome |
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Retinal detachment, Cataract, Abnormal pupil morphology, Downslanted palpebral fissures, Limbal d... |
ORPHA:2969 |
Mucolipidosis Iii Alpha/Beta |
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Opacification of the corneal stroma, Retinal degeneration, Retinopathy, Hyperopic astigmatism |
OMIM:252600 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Conductive hearing impairment, Uln... |
OMIM:171480 |
Gorlin-Chaudhry-Moss Syndrome |
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Astigmatism, Upper eyelid coloboma, Sclerocornea, Abnormal eyelid morphology |
ORPHA:2095 |
Cone-Rod Dystrophy, X-Linked, 1 |
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Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Galloway-Mowat Syndrome 9 |
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Cerebellar atrophy, Hiatus hernia, Coarse hair, Low-set ears, Macrotia |
OMIM:619603 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
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Keratoconus |
OMIM:609438 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Alopecia, Scarring, Craniosynostosis, Oral mucosal blisters, Anemia, Atrophic scars, Palmoplantar... |
ORPHA:79396 |
Retinitis Pigmentosa 19 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Blomstrand Lethal Chondrodysplasia |
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Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral densi... |
ORPHA:50945 |
Retinitis Pigmentosa 95 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Arthrogryposis Multiplex Congenita 5 |
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Normocytic anemia, Micrognathia, Flexion contracture, Acanthocytosis, Hand clenching, Umbilical h... |
OMIM:618947 |
Diabetes And Deafness, Maternally Inherited |
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Pigmentary retinopathy, Retinal degeneration, Ptosis |
OMIM:520000 |
Camurati-Engelmann Disease |
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Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Myopathy, Tubular Aggregate, 1 |
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Abnormal pupil morphology |
OMIM:160565 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
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Upslanted palpebral fissure, Microphthalmia, Ocular albinism, Blepharophimosis |
ORPHA:1352 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Amelocerebrohypohidrotic Syndrome |
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Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Seizure, Yellow-br... |
ORPHA:1946 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Synophrys, H... |
ORPHA:3042 |
H Syndrome |
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Hallux valgus, Abnormal eyebrow morphology, Alopecia, Pes planus, Histiocytosis, Recurrent fractu... |
ORPHA:168569 |
Leber Congenital Amaurosis 15 |
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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 |
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Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... |
OMIM:617337 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
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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, RodrÃguez 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 |
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Microcornea, Microphthalmia, Anophthalmia, Abnormal optic nerve morphology |
ORPHA:3412 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Mucopolysaccharidosis Type 3 |
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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 |
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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 |
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Hemolytic anemia, Alopecia, Eosinophilia, Scarring, Thrombocytopenia, Increased T cell count, Bon... |
ORPHA:797 |
Galloway-Mowat Syndrome 3 |
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Microphthalmia, Epicanthus, Downslanted palpebral fissures |
OMIM:617729 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
Monosomy 9P |
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Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Micr... |
ORPHA:261112 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Asplenia, Iron deficiency anemia, Alopecia, Seizure |
OMIM:269200 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Microphthalmia |
OMIM:241410 |
Bartter Syndrome, Type 2, Antenatal |
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Osteopenia, Seizure, Macrotia, Chondrocalcinosis |
OMIM:241200 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Abnormality iris morphology |
ORPHA:91387 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Pigmentary retinopathy |
OMIM:609015 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
ORPHA:96180 |
Steinert Myotonic Dystrophy |
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Alopecia, Tented upper lip vermilion, Decreased response to growth hormone stimulation test, Abno... |
ORPHA:273 |
Lowry-Wood Syndrome |
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Pigmentary retinopathy |
OMIM:226960 |
Colchicine Poisoning |
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Leukocytosis, Alopecia |
ORPHA:31824 |
Myopathy, Mitochondrial, And Ataxia |
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Pigmentary retinopathy |
OMIM:617675 |
Fanconi Anemia, Complementation Group C |
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Microphthalmia, Epicanthus, Cafe-au-lait spot, Hyperpigmentation of the skin |
OMIM:227645 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
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Amelogenesis imperfecta |
OMIM:248190 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Microphthalmia, Cyclopia |
ORPHA:2166 |
Mitochondrial Trifunctional Protein Deficiency |
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Pigmentary retinopathy |
ORPHA:746 |
Night Blindness, Congenital Stationary, Type 1B |
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Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Pigmentary retinopathy |
ORPHA:71212 |
Fanconi Anemia, Complementation Group F |
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Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin |
OMIM:603467 |
Johanson-Blizzard Syndrome |
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Joint laxity, Sparse scalp hair, Splenomegaly, Sensorineural hearing impairment, Cryptorchidism, ... |
OMIM:243800 |
Behcet Syndrome |
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Arthritis, Patchy alopecia, Oral ulcer |
OMIM:109650 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Optic disc pallor, Optic nerve hypoplasia, Bilateral microphthalmos, Abnormality of the orbital r... |
ORPHA:468631 |
Digeorge Syndrome |
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Blepharophimosis, Posterior embryotoxon, Short palpebral fissure, Sclerocornea |
OMIM:188400 |
Treacher Collins Syndrome 1 |
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Sparse lower eyelashes, Lacrimal duct stenosis, Bilateral microphthalmos, Upper eyelid coloboma, ... |
OMIM:154500 |
Fanconi Anemia, Complementation Group E |
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Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin |
OMIM:600901 |
Fanconi Anemia, Complementation Group D2 |
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Blepharophimosis, Microphthalmia, Cafe-au-lait spot, Abnormality of skin pigmentation |
OMIM:227646 |
Fanconi Anemia, Complementation Group A |
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Abnormality of skin pigmentation, Microphthalmia, Cafe-au-lait spot |
OMIM:227650 |
Melas |
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Pigmentary retinopathy, Optic atrophy, Vitiligo |
ORPHA:550 |
Fanconi Anemia, Complementation Group L |
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Upslanted palpebral fissure, Microphthalmia, Cafe-au-lait spot |
OMIM:614083 |
Fontaine Progeroid Syndrome |
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Sparse scalp hair, Absent nipple, Synophrys, Low anterior hairline, Low posterior hairline, Coars... |
OMIM:612289 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Eyelid apraxia, Hyperpigmentation of the skin, Optic atrophy, Blepharospasm, Pigmentary retinopat... |
OMIM:234200 |
Meckel Syndrome 14 |
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Microphthalmia |
OMIM:619879 |
Fraser Syndrome 2 |
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Microphthalmia, Low anterior hairline |
OMIM:617666 |
Chronic Graft Versus Host Disease |
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Alopecia, Pancytopenia, Fasciitis, Flexion contracture, Arthritis, Onycholysis, Nail dystrophy |
ORPHA:99921 |
Isolated Arrhinia |
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Microphthalmia, Eyelid coloboma |
ORPHA:1134 |
Microphthalmia, Syndromic 9 |
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Blepharophimosis, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Ehlers-Danlos Syndrome, Vascular Type |
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Keratoconus |
OMIM:130050 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
ORPHA:255210 |
Enlarged Parietal Foramina |
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Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Seizure, Sh... |
ORPHA:60015 |
African Trypanosomiasis |
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Alopecia, Splenomegaly, Myelopathy, Hepatosplenomegaly, Abnormal prolactin level, Seizure |
ORPHA:3385 |
Yunis-Varon Syndrome |
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Epicanthus, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Upslanted palpebral fissure |
OMIM:216340 |
Holoprosencephaly 1 |
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Microphthalmia, Cyclopia |
OMIM:236100 |
Microgastria-Limb Reduction Defect Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2538 |
Craniofacial Microsomia 1 |
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Anophthalmia, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Microphthalmia, Ptosis |
OMIM:164210 |
Hardikar Syndrome |
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Pigmentary retinopathy, Lacrimal duct stenosis |
OMIM:301068 |
Parietal Foramina 1 |
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Encephalocele, Seizure, Cleft palate, Cleft upper lip |
OMIM:168500 |
Parietal Foramina With Cleidocranial Dysplasia |
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Microtia, Short clavicles |
OMIM:168550 |