Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment... |
ORPHA:97341 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Reduced visual acuity, Microphthalmia, Chorioretinal dysplasia, Visual impairment |
OMIM:616335 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, High hypermetropia, Abnormal choroid morphology |
ORPHA:35612 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Myopia, Optic atrophy, Microphthalmia, Visual impairment |
ORPHA:1574 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Abnormality of vision, Chorioretinal coloboma, Microphtha... |
OMIM:611638 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... |
ORPHA:59181 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Microcephaly |
ORPHA:293 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu... |
OMIM:612712 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, High hypermetropia, Retinal degeneration |
OMIM:251700 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... |
OMIM:303100 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... |
OMIM:608051 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... |
OMIM:617967 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Synophrys, Hypotelorism, Hypop... |
OMIM:610828 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Retinitis Pigmentosa 42 |
|
Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ... |
OMIM:612943 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis... |
ORPHA:1852 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co... |
OMIM:607921 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation, Metamorphopsia |
OMIM:233800 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... |
ORPHA:85128 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Visual field defect, Rod-cone dystrophy, Visual impairme... |
OMIM:613809 |
Bietti Crystalline Dystrophy |
|
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... |
ORPHA:41751 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy, Visual impairment |
ORPHA:1995 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Blue Cone Monochromatism |
|
Blue cone monochromacy, Abnormality of retinal pigmentation, Corneal dystrophy, Photophobia, Visu... |
ORPHA:16 |
Nanophthalmos 4 |
|
Hypermetropia, Microphthalmia, Reduced visual acuity, Optic disc drusen |
OMIM:615972 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Achromatopsia |
|
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... |
ORPHA:49382 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... |
OMIM:616544 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Shallow ante... |
OMIM:267760 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... |
OMIM:600977 |
Optic Atrophy 9 |
|
Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s... |
OMIM:616289 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Retinitis Pigmentosa 47 |
|
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment |
OMIM:613758 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy, Visual impairment |
OMIM:617717 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:614842 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:619755 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:613582 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... |
OMIM:620342 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Optic Atrophy 5 |
|
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... |
OMIM:610708 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi... |
OMIM:180210 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Cataract, Nyctalopia, Reduce... |
OMIM:613731 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... |
OMIM:610829 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:610359 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... |
OMIM:613750 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... |
OMIM:611134 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... |
OMIM:614181 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad... |
OMIM:308700 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... |
OMIM:609913 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... |
OMIM:600138 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Progressive Cone Dystrophy |
|
Photophobia, Abnormality of retinal pigmentation, Visual impairment, Color vision defect |
ORPHA:1871 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Reduced visual acuity, Astigmatism, Axenfeld anomaly, Foveal hyperpigmen... |
OMIM:609218 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina, Visual field defect |
OMIM:610445 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Abnormality of vision, Generalized hyperpigmentation, Cataract, Optic atrophy |
ORPHA:2253 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia... |
OMIM:300843 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Visual impairment |
ORPHA:2246 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... |
OMIM:304020 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... |
OMIM:617123 |
Microphthalmia, Isolated 6 |
|
Amblyopia, High hypermetropia, Microcornea, Microphthalmia, Retinal fold |
OMIM:613517 |
Choroideremia |
|
Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua... |
ORPHA:180 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular scar, Drusen, Macular degeneration, Progressive visual loss |
OMIM:615439 |
Progressive Bifocal Chorioretinal Atrophy |
|
Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment |
ORPHA:75373 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... |
OMIM:617879 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment |
ORPHA:1178 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:620102 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... |
ORPHA:1473 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:617871 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect |
ORPHA:1872 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... |
OMIM:605670 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Blindness, Cataract, Fundus atrophy, Nyctalopia, Absent foveal re... |
OMIM:204100 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Visual impairment |
OMIM:613703 |
Retinitis Pigmentosa 7 |
|
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... |
OMIM:608133 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Best Vitelliform Macular Dystrophy |
|
Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme... |
ORPHA:1243 |
Retinitis Pigmentosa 2 |
|
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... |
OMIM:312600 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Blindness, Visual loss, Optic atrophy, Pigmentary retinopathy, Retinopathy |
OMIM:610951 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract, Nyctalopia, Rod-cone dystrophy, Attenuation of... |
OMIM:613801 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Cataract, Macul... |
OMIM:180104 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Macular dystrophy |
OMIM:616947 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:601718 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i... |
OMIM:613428 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... |
OMIM:615725 |
Central Retinal Vein Occlusion |
|
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Abnormal anteri... |
ORPHA:411527 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Abnormality of vision... |
ORPHA:83461 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... |
OMIM:620228 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Wagner Vitreoretinopathy |
|
Myopia, Retinal pigment epithelial atrophy, Cataract, Visual loss, Optically empty vitreous, Opti... |
OMIM:143200 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten... |
OMIM:614180 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi... |
OMIM:180100 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... |
OMIM:600852 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... |
OMIM:136550 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Birdshot Chorioretinopathy |
|
Arcuate scotoma, Choroidal neovascularization, Blind-spot enlargment, Vitritis, Photophobia, Atte... |
ORPHA:179 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... |
OMIM:619007 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... |
OMIM:617781 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian p... |
ORPHA:280195 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... |
OMIM:615973 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... |
OMIM:610478 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Scotoma, Optic atrophy, Reduced visual acuity |
OMIM:165300 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Nyctalopia,... |
OMIM:618220 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization, Reduced visual acuity |
OMIM:616118 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:606068 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Visual field defect, Retinal nonattachment, Abnormality of vision, Vitelli... |
ORPHA:99000 |
Idiopathic Uveal Effusion Syndrome |
|
Metamorphopsia, Abnormal anterior eye segment morphology, Reduced visual acuity, Subretinal fluid... |
ORPHA:209956 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels |
OMIM:165510 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:617460 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,... |
ORPHA:215 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Subcapsular cat... |
OMIM:600059 |
Retinitis Pigmentosa 69 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... |
OMIM:615780 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... |
OMIM:615842 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Central heterochromia, Aplasia/Hypoplasia of the thumb, Optic disc hypop... |
ORPHA:233 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... |
OMIM:608850 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy |
OMIM:179840 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Ho... |
ORPHA:2570 |
Diprosopus |
|
Anencephaly |
ORPHA:1681 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,... |
OMIM:609021 |
Anencephaly 2 |
|
Anencephaly |
OMIM:619452 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida, Microcephaly |
ORPHA:63862 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy, Hyp... |
OMIM:172870 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... |
OMIM:616171 |
Microhydranencephaly |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... |
OMIM:605013 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Pulverulent cataract, De... |
OMIM:193220 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Hypertelorism, Alobar holoprosencephal... |
OMIM:609637 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618826 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio, Glaucomatous visual field defect |
OMIM:177700 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... |
OMIM:614175 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,... |
OMIM:225790 |
Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
Retinitis Pigmentosa 6 |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin... |
OMIM:312612 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Adrenal hypoplasia, Alobar holoprosencephaly, Hypotelorism, Holoprosen... |
OMIM:157170 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Myopia, Chorioretinal atrophy, Visual impairment |
OMIM:600790 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy, Astigmatism, Hypermetropia |
OMIM:268060 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Visual impairment, Visual field defect |
OMIM:616451 |
Retinitis Pigmentosa 92 |
|
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... |
OMIM:619614 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Visual loss, Central scotoma,... |
OMIM:604116 |
Distal Deletion 13Q |
|
Encephalocele, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosence... |
ORPHA:1590 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de... |
OMIM:180020 |
Microphthalmia With Brain And Digit Anomalies |
|
Myopia, Anophthalmia, Retinal dystrophy, Cataract, Sclerocornea, Microcornea, Chorioretinal colob... |
ORPHA:139471 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular p... |
OMIM:613835 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Blindness, Cataract, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc d... |
OMIM:204000 |
Pierpont Syndrome |
|
Abnormal peripheral nervous system morphology, Microcornea, Deeply set eye, Large fleshy ears, Wi... |
OMIM:602342 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:618144 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Microcephaly |
OMIM:601355 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Aplasia/... |
ORPHA:1908 |
Exudative Vitreoretinopathy 5 |
|
Reduced visual acuity, Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal f... |
OMIM:613310 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Blindness, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... |
OMIM:300029 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Abnormality of the dentition, Microcephaly, Deep philtrum, Camptodactyly ... |
ORPHA:251038 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Constriction of peripheral visual field, Posterior subcapsular cataract, Pigme... |
OMIM:612572 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Cataract, Camptodactyly of finger, Microgn... |
ORPHA:1466 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... |
OMIM:300476 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... |
ORPHA:94058 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Micrognathia, Cryptorchidism, Neonatal death, Microphthalmia, Retrognathia |
OMIM:615524 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Telecanthus, Corneal opacity, Depressed nasal bridge, Anteverted nar... |
ORPHA:1064 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Patchy atrophy of the retinal pigme... |
ORPHA:67042 |
17Q21.31 Microduplication Syndrome |
|
Epicanthus, Anteverted nares, Micrognathia, Abnormality of the dentition, Microcephaly, Synophrys... |
ORPHA:217340 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... |
OMIM:616188 |
Warburg Micro Syndrome 1 |
|
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Anteverted nares, Micrognathia, Microceph... |
OMIM:600118 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Central scotoma, Photophobia, Visual impairment |
OMIM:615163 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Blindness, Optic atrophy, Abnormality of visual evoked poten... |
ORPHA:141 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Amblyopia, Optic disc coloboma |
ORPHA:35737 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I... |
OMIM:618977 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Myopia, Optic atrophy |
OMIM:600510 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal mo... |
ORPHA:370097 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Redu... |
OMIM:309300 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Blindness, Abnormality of retinal pigmentation, Cataract, Visual loss, Lens s... |
ORPHA:171844 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... |
OMIM:616108 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:180105 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision |
OMIM:614494 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Holoprosencephaly |
|
Anophthalmia, Congenital diaphragmatic hernia, Deep philtrum, Synophrys, Depressed nasal ridge, P... |
ORPHA:2162 |
Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... |
ORPHA:284454 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... |
OMIM:600105 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract |
ORPHA:324416 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c... |
OMIM:616394 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Partial agenesis of the corpus callosum, Hypoplasia of the iris,... |
OMIM:222448 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Amblyopia, Blue irides, Reduced visual a... |
ORPHA:352731 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:617304 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:615922 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:613581 |
Frontal Encephalocele |
|
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... |
ORPHA:1931 |
Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Anophthalmia, Downturned corners of mouth, High palate, Conductive ... |
OMIM:605627 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi... |
OMIM:616170 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ... |
OMIM:605750 |
Norrie Disease |
|
Retinal detachment, Blindness, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia o... |
OMIM:310600 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, High myopia, Microcornea, Cortical pulver... |
OMIM:610202 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:615233 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Optic nerve dysplasia, Visual impairment, Developmental cataract |
OMIM:246000 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Telecanthus, Anophthalmia, Anteverted nares, Prominent nasal bridge, Abnormal spaced incisors, Br... |
ORPHA:411986 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
Holoprosencephaly 1 |
|
Proboscis, Adrenal hypoplasia, Alobar holoprosencephaly, Microcephaly, Hypotelorism, Agenesis of ... |
OMIM:236100 |
Pierpont Syndrome |
|
Uplifted earlobe, Microcornea, Deeply set eye, Widely spaced teeth, Hypertelorism, Cryptorchidism... |
ORPHA:487825 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fund... |
OMIM:606574 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Progressive visual loss, Retinal degeneration |
OMIM:601780 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... |
OMIM:618173 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Peripheral visual field loss, Num... |
OMIM:618697 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Aprosencephaly |
OMIM:601374 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology, Sever... |
ORPHA:65 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Reduced visual acuity, Retinal pigment epithelial mottling, Central retinal vessel vascular tortu... |
ORPHA:506353 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor |
OMIM:619389 |
Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Ph... |
OMIM:619649 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Optic Atrophy 6 |
|
Photophobia, Red-green dyschromatopsia, Optic atrophy, Visual impairment |
OMIM:258500 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Posterior subcapsular cat... |
OMIM:613810 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Anophthalmia, Chorioretinal dysplasia, Protruding ear, Microcornea, Abno... |
ORPHA:899 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:616469 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... |
OMIM:613862 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:613983 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Progressive visual loss, Visual... |
ORPHA:3156 |
Optic Atrophy 1 |
|
Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Abnormal amplit... |
OMIM:165500 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Keratoconus, Macular atrophy, Nyctalopia, ... |
OMIM:604393 |
Trisomy 12P |
|
Epicanthus, Thick eyebrow, Supernumerary nipple, Micrognathia, Hypertelorism, Wide nasal bridge, ... |
ORPHA:1699 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:602772 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a... |
OMIM:615147 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:612095 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Posterior subcaps... |
OMIM:611131 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... |
ORPHA:209943 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac... |
OMIM:617433 |
Distal Monosomy 7Q36 |
|
Micrognathia, Microcephaly, Cryptorchidism, Bulbous nose, Non-midline cleft lip, Optic atrophy, C... |
ORPHA:1636 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Optic nerve... |
ORPHA:95494 |
Focal Dermal Hypoplasia |
|
Linear hyperpigmentation, Cleft ala nasi, Anophthalmia, Congenital diaphragmatic hernia, Short me... |
OMIM:305600 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:603194 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Constriction of peripheral visual field, Congenital stationary night blindness... |
OMIM:616389 |
Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleton morphology, Abnormal c... |
ORPHA:563612 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Hypotelorism, Deeply ... |
OMIM:612530 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:300915 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... |
OMIM:613194 |
Holoprosencephaly 4 |
|
Ptosis, Median cleft lip and palate, Depressed nasal bridge, Median cleft lip, Absent nasal septa... |
OMIM:142946 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Blindness, Myopia, Cataract, Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Micrognathia, Hypertelorism, Microcephaly, Bulbous nose, Hydrocephalus, O... |
OMIM:614219 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Photophobia, Visual impairment, Attenuation of retinal... |
OMIM:614504 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Hypertelorism, Cryptorch... |
ORPHA:1695 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Visual loss, Central scotoma, Abnormality of pattern visual ... |
OMIM:616648 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Trisomy 13 |
|
Anophthalmia, High, narrow palate, Hypotelorism, Deeply set eye, Iris coloboma, Abnormal eyelash ... |
ORPHA:3378 |
Trisomy 1Q |
|
Microretrognathia, Wide nose, Anophthalmia, Depressed nasal bridge, Camptodactyly of finger, Cong... |
ORPHA:261344 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:600132 |
Juvenile Glaucoma |
|
Optic neuropathy, Central scotoma, Abnormality iris morphology, Peripheral visual field loss, Hig... |
ORPHA:98977 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Constriction of peripheral visual field, Rod-cone dystrophy, Visual impairment... |
OMIM:608380 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Myopia, Iris coloboma, Ectopia lentis |
ORPHA:1259 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract |
OMIM:601794 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Exencephaly |
OMIM:614464 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract |
ORPHA:363741 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia, High hypermetropia |
OMIM:251600 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Cerebellar atrophy, Smooth philtrum, Thin upper lip vermilion, Juvenile cataract, Depressed nasal... |
ORPHA:438178 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Blind-spot enlargment, Cerulean cataract, Central scotoma, Reduced visual acui... |
OMIM:616732 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter mor... |
ORPHA:352682 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Peripheral axonal neuropathy, Retinal degeneration |
OMIM:275400 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy, Visual impairment |
ORPHA:1528 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Reduced visual acuity, Microcornea, Microphth... |
OMIM:615145 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Myopia, Facial palsy |
ORPHA:2743 |
Joubert Syndrome 14 |
|
Cerebellar vermis hypoplasia, Tented upper lip vermilion, Coloboma, Hypoplasia of the brainstem, ... |
OMIM:614424 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Mildly reduced visual acuity, Cataract, Vitreous floaters, Lattice retinal de... |
OMIM:614292 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Reduced visual acuity, Developmental catar... |
OMIM:604229 |
Jacobsen Syndrome |
|
Micrognathia, Flexion contracture, Microcornea, Eyelid coloboma, Holoprosencephaly, Chorioretinal... |
OMIM:147791 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... |
OMIM:616079 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... |
OMIM:613756 |
Frontonasal Dysplasia 1 |
|
Hypoplasia of the maxilla, Coloboma, Pectoral muscle hypoplasia/aplasia, Widely-spaced maxillary ... |
OMIM:136760 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Reduced visual acuity, Photophobia, Iris trans... |
OMIM:619165 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Photophobia, Visual impairment, Color vision ... |
ORPHA:1873 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi... |
ORPHA:52427 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Blindness, Cataract, Abnormal retinal vascular ... |
ORPHA:791 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613617 |
Monosomy 18P |
|
Epicanthus, Micrognathia, Carious teeth, Microcephaly, Wide nasal bridge, Cleft palate, Protrudin... |
ORPHA:1598 |
Nance-Horan Syndrome |
|
Retinal detachment, Cataract, Visual loss, Microcornea, Microphthalmia, Visual impairment |
ORPHA:627 |
Marcus-Gunn Syndrome |
|
Unilateral ptosis, Abnormal ear morphology, Choanal atresia, Abnormal fifth cranial nerve morphol... |
ORPHA:91412 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Microcornea, Microphthalmia |
OMIM:610125 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Cerebellofaciodental Syndrome |
|
Cataract, Microcephaly, Hypoplasia of the pons, Cryptorchidism, Sparse eyebrow, Dental malocclusi... |
OMIM:616202 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... |
OMIM:613464 |
Proboscis Lateralis |
|
Anophthalmia, Abnormal morphology of bony orbit of skull, Single naris, Orofacial cleft, Abnormal... |
ORPHA:141099 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Bilater... |
ORPHA:2003 |
Galloway-Mowat Syndrome 1 |
|
Prominent nose, Micrognathia, Hypoplasia of the iris, Hypoplasia of the brainstem, High palate, H... |
OMIM:251300 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cleft ala nasi, Cryptorchidism, Orbital encephalocele, Orbital cyst, Cleft palate, ... |
OMIM:164180 |
Congenital Glaucoma |
|
Visual loss, Retinal detachment |
ORPHA:98976 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly |
OMIM:611561 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the pons, Hypoplasia of the maxilla, Retinal t... |
OMIM:620157 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Peripheral axonal neuropathy |
OMIM:619090 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t... |
ORPHA:1134 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... |
OMIM:605549 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Myopia, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lac... |
OMIM:152950 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Myopia, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retino... |
ORPHA:90654 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Epicanthus, Open mouth, Optic atrophy, Progressive microcephaly, Short nose, ... |
OMIM:617507 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Depressed nasal bridge, Exaggerated cupid's bow, H... |
ORPHA:261120 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Optic atrophy |
OMIM:274270 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Myopia, Abnormal pupil morphology, Ocular albinism, Photophobia, Astigma... |
ORPHA:54 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Microglossia, Aplasia/H... |
ORPHA:990 |
Trisomy 18 |
|
Congenital diaphragmatic hernia, Microcornea, Pointed helix, Holoprosencephaly, Iris coloboma, Mi... |
ORPHA:3380 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia,... |
OMIM:614186 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Cerebral cortical atrophy, Holoprosencephaly, Microcephaly |
ORPHA:2523 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Synophrys, Hypotelorism, Anteverted nares, Highly arched eyebrow, Hypertelorism, Wide nasal bridg... |
OMIM:614701 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia |
OMIM:236500 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Progressive visual loss |
OMIM:164500 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormality of vision |
ORPHA:1897 |
Joubert Syndrome 10 |
|
Epicanthus, Cerebellar vermis hypoplasia, Deep philtrum, Wide nasal bridge, Thick vermilion borde... |
OMIM:300804 |
Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Porencephalic cyst, Subcort... |
OMIM:615191 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Corneal opacity, Moderately reduced visual acuity, Visual acuity light percep... |
ORPHA:2788 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Myopia, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Myopia, Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, R... |
OMIM:602499 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Hydrolethalus |
|
Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Anencephaly, Agenesis of corpus callosum |
ORPHA:2189 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... |
ORPHA:1532 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Sjögren-Larsson Syndrome |
|
Myopia, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal erosion, Phot... |
ORPHA:816 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation, High myopia |
ORPHA:1117 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermi... |
ORPHA:163961 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Epicanthus, Anteverted nares, Microg... |
ORPHA:2015 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Micrognathia, Deep philtrum, High palate, Medial flaring of the eyebr... |
OMIM:619833 |
Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Blue sclerae, High palate, Ocular anterior segment d... |
OMIM:612582 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response ... |
OMIM:182230 |
Neuhauser Syndrome |
|
Iridodonesis, Epicanthus, Depressed nasal bridge, Micrognathia, Hypertelorism, Microcephaly, Cupp... |
OMIM:249310 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Telecanthus, Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Abn... |
ORPHA:782 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Microcephaly, Hydrocephalus, Flexi... |
OMIM:613155 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hypoplasia of the pons, Coloboma, Hypoplasia of the brainstem, Megalocor... |
ORPHA:370959 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Amblyopia, Developmental cataract, Microcornea, Microphthalmia, I... |
OMIM:604219 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Myopia, Abnormal retinal vascular morphology, Nyctalopia, He... |
ORPHA:1390 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, U... |
OMIM:221900 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Choanal atresia, Spina bifida, Hypertelorism, Ab... |
ORPHA:1104 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... |
OMIM:601777 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Epicanthus, Micrognathia, Hypertelorism, Microcephaly, Sensorineural hearing impair... |
ORPHA:2479 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Telecanthus, Abnormal auditory evoked potentials, Hypertelorism, Hypoplasia of th... |
OMIM:109120 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Prominent nose, Micrognathia, Flexion contracture, Abnormality of the ear, Knee flexion contractu... |
OMIM:214150 |
Aniridia 2 |
|
Cataract, Amblyopia, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Anteverted nares, Choanal atresia, Depressed nasal bridge, Hypertelorism, Hydrocephalus... |
ORPHA:1914 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Constriction of peripheral visual field, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Vi... |
OMIM:614307 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Hypoplasia... |
OMIM:616546 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma... |
ORPHA:91495 |
Narp Syndrome |
|
Optic disc pallor, Abnormal visual field test, Blindness, Constriction of peripheral visual field... |
ORPHA:644 |
Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidis... |
ORPHA:2409 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Posterior subcaps... |
OMIM:613843 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... |
OMIM:615287 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... |
OMIM:614841 |
Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... |
OMIM:613660 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Synophrys, Microcornea, Downturned corners of mouth, Hig... |
ORPHA:1327 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly, Microcephaly |
OMIM:306990 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Hartsfield Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Telecanthus, Depressed nasal bridge, Hypertelor... |
ORPHA:2117 |
Pontocerebellar Hypoplasia, Type 1F |
|
Telecanthus, Depressed nasal bridge, Anteverted nares, Microcephaly, Hypoplasia of the pons, Blue... |
OMIM:619304 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Anteverted nares, Dental crowding, Posteriorly rotated ears, Micrognath... |
OMIM:619941 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, High myopia, Iris transillumination defect, Ectopia... |
OMIM:225200 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Constriction of peripheral visual field, Retinal degeneration |
OMIM:520000 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
Chromosome Xp11.3 Deletion Syndrome |
|
Moderate myopia, Blindness, Constriction of peripheral visual field, Cataract, Nyctalopia, Poster... |
OMIM:300578 |
Distal Deletion 6P |
|
Micrognathia, Orofacial cleft, Hypoplasia of the iris, Downturned corners of mouth, Short philtru... |
ORPHA:96125 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Camptodactyly of finger, Micrognathia, Microcephaly, Optic atrophy, Protruding ... |
ORPHA:1495 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Deep philtrum, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodactyly, De... |
OMIM:206920 |
Wagro Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Dental crowding, Micrognathia, Low-set ears, An... |
OMIM:612469 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Myopia, Retinal degeneration |
ORPHA:3363 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypop... |
ORPHA:79432 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Ophthalmoplegia, External, And Myopia |
|
Myopia, Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Microcephaly, Depressed na... |
OMIM:613885 |
Retinitis Pigmentosa 75 |
|
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co... |
OMIM:617023 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Hypoplasia of the pons, Hypotelorism, Knee flexion contracture, Agen... |
ORPHA:468631 |
Charge Syndrome |
|
Anophthalmia, Aqueductal stenosis, Eyelid coloboma, Hypoplasia of the semicircular canal, Holopro... |
ORPHA:138 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Midline brainstem ... |
OMIM:617542 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... |
OMIM:610283 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Epicanthus, Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia,... |
ORPHA:163649 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Anophthalmia, Abnormal size of the palpebral fissures, Corneal dystrophy, ... |
ORPHA:1101 |
Congenital Toxoplasmosis |
|
Microphthalmia, Abnormality of retinal pigmentation, Visual impairment |
ORPHA:858 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Micrognathia, High, narrow palate, Hypoplasia of the brainstem, Congenital... |
OMIM:248700 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Sclerocornea, Micrognathia, Microcornea, Deeply set eye, Agenesis o... |
OMIM:243605 |
Gomez-Lopez-Hernandez Syndrome |
|
Fusion of the cerebellar hemispheres, Cerebellar vermis hypoplasia, Anteverted nares, Agenesis of... |
OMIM:601853 |
Baraitser-Winter Syndrome 1 |
|
Orofacial cleft, Chorioretinal coloboma, Agenesis of corpus callosum, Iris coloboma, Anteverted n... |
OMIM:243310 |
Short Syndrome |
|
Telecanthus, Diabetes mellitus, Corneal opacity, Abnormal dental enamel morphology, Hypertelorism... |
ORPHA:3163 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Synophrys, Hypotelorism, Downturned corners of mouth, Hypoplasia of the brainstem, ... |
ORPHA:391408 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M... |
ORPHA:290 |
Temtamy Syndrome |
|
Telecanthus, Convex nasal ridge, Micrognathia, Hypertelorism, Short toe, Thick lower lip vermilio... |
ORPHA:1777 |
Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Micrognathia, Congenital diaphragmatic hernia, Holoprosencephaly, Biparietal narrow... |
ORPHA:818 |
Meckel Syndrome |
|
Anophthalmia, Sclerocornea, Micrognathia, Depressed nasal ridge, Microcornea, Dandy-Walker malfor... |
ORPHA:564 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Subretinal deposits, Abnorma... |
ORPHA:397715 |
Enhanced S-Cone Syndrome |
|
Cataract, Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Reti... |
OMIM:268100 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Cataract, Anteverted nares, Micrognathia, Microcephaly, Knee flexion contracture, Upsl... |
OMIM:619694 |
Joubert Syndrome 36 |
|
Anteverted nares, Highly arched eyebrow, Sensorineural hearing impairment, Macrocephaly, Molar to... |
OMIM:618763 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Posteriorly rotated ears, Micrognathia, Microcephaly, Depressed nasal ridge, Gi... |
ORPHA:1832 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Epicant... |
ORPHA:40366 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Anteverted nare... |
ORPHA:44 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
Oculoauricular Syndrome |
|
Ultra-low vision with retained light perception, Sclerocornea, Microcornea, Iris cyst, Chorioreti... |
OMIM:612109 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Microcephaly, Cleft palate, Agenesis of corpus callosum, Cerebellar hypoplasia, Low... |
OMIM:616570 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... |
OMIM:613341 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Anophthalmia, Sparse eyelashes, Hypertelorism, Spa... |
ORPHA:66625 |
Lambotte Syndrome |
|
Telecanthus, Hypertelorism, Microcephaly, Macrotia, Atresia of the external auditory canal, Narro... |
OMIM:245552 |
Triploidy |
|
Low-set, posteriorly rotated ears, Cataract, Intestinal malrotation, Micrognathia, Hypertelorism,... |
ORPHA:3376 |
Harel-Yoon Syndrome |
|
Cerebellar atrophy, Mandibular prognathia, Peripheral axonal neuropathy, Corneal opacity, Microgn... |
OMIM:617183 |
Insulin-Like Growth Factor I, Resistance To |
|
Micrognathia, Synophrys, Deeply set eye, High palate, Highly arched eyebrow, Wide nasal bridge, L... |
OMIM:270450 |
Perlman Syndrome |
|
Epicanthus, Anteverted nares, Posteriorly rotated ears, Micrognathia, Cryptorchidism, High, narro... |
ORPHA:2849 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Underdev... |
ORPHA:250999 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ptosis, Depressed nasal bridge, Broad nasal ... |
OMIM:619736 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... |
OMIM:613767 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Prominent nasal bridge, Micrognathia, Bilateral cryptorchid... |
OMIM:613544 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic atrophy, R... |
OMIM:125250 |
Chung-Jansen Syndrome |
|
Epicanthus, Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism, Macrotia, Synophrys, U... |
OMIM:617991 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity |
OMIM:618970 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Micrognathia, Hypotelorism, Deeply set eye, Glossoptosis, High palate, Anteverted nares, Hypertel... |
OMIM:613604 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Tented upper lip vermilion, Flexion contracture, Blue sclerae, High... |
OMIM:619383 |
Alkuraya-Kucinskas Syndrome |
|
Micrognathia, Hypotelorism, Hypoplasia of the brainstem, High palate, Dandy-Walker malformation, ... |
OMIM:617822 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Decreased resp... |
OMIM:147250 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Constriction of peripheral visual field, Optic atrophy |
OMIM:182830 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Hypertelorism, Broad nasal tip, Macrocephaly, Malar flattening, Short nose, Retrognathia, Downsla... |
OMIM:613670 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Nyctalopia, Rod-cone dystrophy, Visual impairment |
OMIM:600151 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Brushfield spots, Hydrocephalus, Synophrys, Down... |
ORPHA:1895 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Depressed nasal bridge, Retinal dystrophy, Congenital diaphragmatic hernia, H... |
ORPHA:2143 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Anteverted nares, Hypertelorism, Wide nasal bridge, Midline notch o... |
OMIM:617127 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Micrognathia, Hypoplasia of the pons, Abnormally large globe, Hypoplasia of the brainstem, High p... |
OMIM:300749 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, Synophrys, Blue sclerae, High palate, Brow ptosis, Exaggerated cupid's bow, Highly ... |
OMIM:605130 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Cataract, Micrognathia, Microcephaly, Flexion contracture, Optic atrophy, ... |
OMIM:614222 |
Uveal Melanoma |
|
Retinal detachment, Metamorphopsia, Photopsia, Iris melanoma, Visual loss, Inferior lens subluxat... |
ORPHA:39044 |
14Q22Q23 Microdeletion Syndrome |
|
Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Downturned corners... |
ORPHA:264200 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Blindness, ... |
OMIM:609033 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Frontal bossing, Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Redu... |
OMIM:613038 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct... |
ORPHA:5 |
Wagr Syndrome |
|
Cataract, Micrognathia, Microcephaly, Cryptorchidism, Hearing abnormality, Aplasia/Hypoplasia of ... |
ORPHA:893 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
Microform Holoprosencephaly |
|
Tented upper lip vermilion, Maternal diabetes, Orofacial cleft, Hypotelorism, Short philtrum, Hol... |
ORPHA:280200 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Lis... |
ORPHA:63259 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Optic disc pallor, Cataract |
OMIM:613730 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Anteverted nares,... |
ORPHA:220493 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Median cleft lip, Depressed nasal bridge, Micromelia, ... |
OMIM:241800 |
3C Syndrome |
|
Adrenal hypoplasia, Micrognathia, High, narrow palate, Orofacial cleft, Chorioretinal coloboma, A... |
ORPHA:7 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Myopia, Cataract, Patchy atrophy of the retina... |
OMIM:616468 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract, High myopia |
OMIM:619781 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Partial agenesis of the corpus callosum, Synophrys, Blue sclerae, Short philtrum, A... |
OMIM:620250 |
Agnathia-Otocephaly Complex |
|
Wide nose, Micrognathia, Conductive hearing impairment, Aglossia, Cleft palate, Downslanted palpe... |
OMIM:202650 |
Temtamy Syndrome |
|
Dental crowding, Convex nasal ridge, Highly arched eyebrow, Lens luxation, Micrognathia, Ectopia ... |
OMIM:218340 |
Peho Syndrome |
|
Cerebellar atrophy, Epicanthus, Anteverted nares, Palpebral edema, Microcephaly, External ear mal... |
ORPHA:2836 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor, Nyctalopia |
OMIM:618632 |
Osteopetrosis, Autosomal Recessive 8 |
|
Visual loss, Unilateral microphthalmos, Optic atrophy, Facial palsy |
OMIM:615085 |
Ring Chromosome 14 Syndrome |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Hypertelorism, Almond-shaped palpebral fiss... |
OMIM:616606 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Constriction of peripheral visual field, Optic atrophy, Abno... |
ORPHA:1215 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Rieger anomaly, Anal stenosis, Decreased response to growth hormone sti... |
OMIM:180500 |
Cataract 11, Multiple Types |
|
Microphthalmia, Blindness, Cataract, Developmental cataract |
OMIM:610623 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Thin upper lip vermilion, Death in infancy, Micrognathia, Optic atrophy, Hypotelorism, Congenital... |
OMIM:615042 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Corneal opacity, Prominent nasal bridge, ... |
ORPHA:357058 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Myopia, Aplasia/Hypoplasia of the lens, Cataract, Visual loss, Microphthalmia... |
ORPHA:85194 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Reduc... |
OMIM:612989 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short palm, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism... |
ORPHA:171839 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... |
ORPHA:300573 |
49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Epicanthus, Depressed nasal bridge, ... |
ORPHA:96264 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Epicanthus, Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Short nose |
OMIM:300577 |
Joubert Syndrome 22 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615665 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Nyctalopia, Visual ... |
ORPHA:96 |
Dubowitz Syndrome |
|
Micrognathia, Protruding ear, Hypoplasia of the iris, High palate, Otitis media, Megalocornea, Ir... |
OMIM:223370 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Hypertelorism, Wide nasal bridge, Macrocephaly, Molar tooth sign on MRI, Triangular mouth, Agenes... |
ORPHA:166024 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Mandibular prognathia, Peripheral axonal neuropathy, Cataract, Corneal opacit... |
ORPHA:496790 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Epicanthus, Cataract, Depressed nasal bridge, Anteverted nares, Tented upper lip vermilion, Hyper... |
OMIM:614105 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Myopia, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinis... |
OMIM:203200 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Cataract, Microcephaly, Microcornea, Upslanted palpebral fissure, Hypogonadism, High ... |
ORPHA:2528 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Ventriculomegaly, Agenesis of cerebellar vermis, Corneal opacity, Cataract, H... |
OMIM:613153 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity, Pigmentary ret... |
OMIM:616562 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
OMIM:264470 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdevelo... |
ORPHA:521308 |
Fanconi Anemia |
|
Micrognathia, Abnormal eyelid morphology, Abnormality of skin pigmentation, High palate, Abnormal... |
ORPHA:84 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Abnormal fifth cranial nerve morphology, Parageusia, Abnormality ... |
ORPHA:353253 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... |
OMIM:218000 |
Frontofacionasal Dysplasia |
|
Depressed nasal ridge, Microcornea, Limbal dermoid, Iris coloboma, Encephalocele, Depressed nasal... |
ORPHA:1791 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... |
OMIM:618157 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Microcornea, Short philtr... |
ORPHA:464738 |
Lissencephaly 8 |
|
Microphthalmia, Cataract, Optic atrophy |
OMIM:617255 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the pons, Retinal telangiectasia, Chiari type ... |
OMIM:620155 |
Mosaic Variegated Aneuploidy Syndrome |
|
Micrognathia, Depressed nasal ridge, Abnormality of skin pigmentation, Holoprosencephaly, Aplasia... |
ORPHA:1052 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Cerebellar vermis hypoplasia, Conical tooth, Bilateral... |
OMIM:613451 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Synophrys, Oligodontia, Aplasia of the distal phalanx of the 5th fing... |
ORPHA:364577 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Widely spaced teeth, Ocular ante... |
ORPHA:369891 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Epicanthus, Cataract, Hypertelorism, Cleft lip, Bulbous nose, Deep philtrum, W... |
OMIM:618571 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Congenital diaphragmatic herni... |
ORPHA:2556 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Anophthalmia, Dental crowding, Malformed lacrima... |
OMIM:219000 |
16P13.11 Microdeletion Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Camptodactyl... |
ORPHA:261236 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Anteverted nares,... |
ORPHA:220497 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Prominent nasal bridge, Highly arched eyebrow, Carious teeth, Thick lower lip vermilion, Narrow p... |
ORPHA:457365 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... |
OMIM:133780 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Dental crowding, Knee flexion contracture, Deeply set eye, Hypoplasia of t... |
OMIM:193700 |
Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus, Aniridia, Microphthalmia, Ankyloglossia |
OMIM:602361 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... |
OMIM:601706 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Exaggerated cupid... |
OMIM:617752 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Photophobia, Abnorm... |
ORPHA:79431 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... |
ORPHA:897 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Holoprosencephaly, Macrocephaly |
OMIM:300706 |
Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Epicanthus, Highly arched eyebrow, Sparse medial eyebrow, Wide nasal ... |
OMIM:618804 |
Stickler Syndrome, Type V |
|
Cataract, Retinal detachment, Vitreoretinopathy, High myopia |
OMIM:614284 |
Exudative Vitreoretinopathy 4 |
|
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... |
OMIM:601813 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Anteverted nares,... |
ORPHA:2318 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Cataract, Nyctalopia, Abnormality of vision, Progressive vis... |
ORPHA:773 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Micrognathia, Premature graying of hair, Conductive hearing impairment, Ectopic thy... |
OMIM:113620 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Widely... |
ORPHA:363417 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism, Hydrocephalus, Wide nasal bridge, ... |
OMIM:618577 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Pulsatil... |
ORPHA:29072 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Cerebellar atrophy, Epicanthus, Anteverted nares, Exaggerated cupid's bow, Posteriorly rotated ea... |
OMIM:618506 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Juvenile cataract |
ORPHA:1264 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hyp... |
OMIM:613443 |
Cockayne Syndrome B |
|
Mandibular prognathia, Abnormal peripheral myelination, Microcornea, Hypoplasia of the iris, Abno... |
OMIM:133540 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction |
ORPHA:481 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio, Glaucomatous visual field defect |
OMIM:603383 |
Whistling Face Syndrome, Recessive Form |
|
Ptosis, Epicanthus, Telecanthus, Prominent nasal bridge, Shoulder flexion contracture, Micrognath... |
OMIM:277720 |
Short Syndrome |
|
Delayed eruption of teeth, Rieger anomaly, Cataract, Telecanthus, Micrognathia, Underdeveloped na... |
OMIM:269880 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Ileal atresia, Micrognathia, Epicanthus inversus, Protruding ear, Holo... |
OMIM:618820 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-... |
OMIM:601812 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Synophrys, White hair, Premature graying of ha... |
ORPHA:894 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Synophrys, Wide mouth, Deeply set eye, Everted l... |
ORPHA:2429 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Protruding ear, High palate, Widely spaced te... |
ORPHA:192 |
Non-Distal Duplication 13Q |
|
Micrognathia, Abnormality of the dentition, Cryptorchidism, Synophrys, Aplasia/Hypoplasia of the ... |
ORPHA:1702 |
Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Spina bifida, Microcephaly, Myelomeningocele, Meningocele, Porencephalic ... |
ORPHA:1393 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corp... |
OMIM:614815 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Optic disc pallor, Myopia, Visual impairment |
OMIM:300887 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cerebellar vermis hypopla... |
ORPHA:2510 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Ptosis, Broad eyebrow, Cerebellar vermis hypoplasia, Anteverte... |
ORPHA:494344 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cerebellar atrophy, Cataract, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, ... |
OMIM:619286 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Micrognathia, Coloboma, Hypoplasia of the brainstem, Congenital contract... |
OMIM:236670 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Slender nose, Skeletal muscle atrophy, Thin upper lip ... |
OMIM:615419 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive... |
OMIM:264420 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Unilateral ptosis, Hypotelorism, Abnormality of skin pigmentation, Short p... |
ORPHA:1449 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Epicanthus, Cerebellar vermis hypoplasia, Anteverted nares, Ret... |
OMIM:608629 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Adrenal hypoplasia, Micrognathia, Micromelia,... |
OMIM:612651 |
Retinitis Pigmentosa 23 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Posteri... |
OMIM:300424 |
Tetrasomy 5P |
|
Epicanthus, Anteverted nares, Posteriorly rotated ears, Short hallux, Micrognathia, Hypertelorism... |
ORPHA:3309 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Chiari type I malformation, Anteriorly placed anus, Cho... |
ORPHA:798 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Uveitis, Deeply set eye... |
ORPHA:90321 |
Polyrrhinia |
|
Abnormal nasal bone morphology, Hypertelorism, Abnormal external nose morphology, Orofacial cleft... |
ORPHA:141091 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Smooth philtrum, Epicanthus, Depressed nasal bridge, Hypertelorism, Hydrocephalus, Progressive ma... |
OMIM:602501 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Diaphragmatic eventration, Cerebellar vermis hypoplasia, Optic nerve hy... |
OMIM:615574 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Very low visual acuity, Corneal opacity, Chorioretinal degeneration,... |
ORPHA:98973 |
Rhombencephalosynapsis |
|
Microretrognathia, Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cereb... |
ORPHA:59315 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Depressed nasal bridge, Micromelia, Hydrocephalus, Proptosis, Holoprosencephaly, M... |
ORPHA:93274 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Joubert Syndrome 7 |
|
Encephalocele, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Abnorma... |
OMIM:611560 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Synophrys, Orofacial cleft, Premature graying of hair, Heterochromia iridi... |
OMIM:193500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Skeletal muscle atrophy, Cataract, Hydrocephalus, Flexion cont... |
OMIM:253800 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... |
ORPHA:2526 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Visual impairment, Patchy atrophy of the retinal pigment epi... |
ORPHA:1433 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Reduced visual acuity, Microphthalmia, Retinal degeneration, Vi... |
OMIM:615249 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Epicanthus, Anteverted nares, Hypertelorism, Carious teeth, Cr... |
ORPHA:2701 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Microcephaly, Hydrocephalus, ... |
OMIM:300558 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Deep philtrum, Synophrys, Protruding ear, Deeply set eye, Short philtrum, Joint contracture of th... |
OMIM:620098 |
Goldberg-Shprintzen Syndrome |
|
Hypoplasia of the maxilla, Synophrys, Hypoplasia of the brainstem, Blue sclerae, Oligodontia, Sho... |
OMIM:609460 |
Facial Paresis, Hereditary Congenital, 3 |
|
Unilateral ptosis, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nar... |
OMIM:614744 |
Moebius Syndrome |
|
Abnormal nasopharynx morphology, Epicanthus, Depressed nasal bridge, Hypogonadotropic hypogonadis... |
OMIM:157900 |
Oculofaciocardiodental Syndrome |
|
Microcornea, Oligodontia, Fused teeth, Iris coloboma, Highly arched eyebrow, Short thumb, Flexion... |
ORPHA:2712 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Microcornea, Deeply s... |
ORPHA:819 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Hypertelorism, Protruding tongue, Open mouth, Optic atrophy, G... |
ORPHA:561 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Epicanthus, Telecanthus, Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, ... |
OMIM:618828 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Epicanthus, Alobar holoprosencephaly, Hypertelorism, Cryptorchidism, High palate, Short philtrum,... |
OMIM:615433 |
5Q14.3 Microdeletion Syndrome |
|
Thick eyebrow, Agenesis of cerebellar vermis, Anteverted nares, Optic nerve hypoplasia, Open mout... |
ORPHA:228384 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Diabetes mellitus, Broad nasal tip, Hypertelorism, Blepharophimosis, Recur... |
ORPHA:391372 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Abnormal morphology of bony orbit of skull, Abnormality of infra-orbital nerve, Abnorm... |
ORPHA:449563 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Epicanthus, Depressed nasal bridge, Elbow contracture,... |
OMIM:620310 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Adrenal hypoplasia, Micrognathia, Orofacial cleft, Hypotelorism, Absent nares, Holoprosencephaly,... |
ORPHA:2166 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI |
OMIM:616781 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n... |
OMIM:617201 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Brainstem dysplasia, Hypoplasia of the brainstem, Retinal dysplasia... |
OMIM:213300 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Moderately reduced visual acuity, Retinal coloboma, Chorioretinal coloboma, Severely reduced visu... |
ORPHA:2921 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... |
OMIM:221750 |
Joubert Syndrome 37 |
|
Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Posteriorly rotated ears, Hyperteloris... |
OMIM:619185 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpu... |
ORPHA:77298 |
Gapo Syndrome |
|
Micrognathia, High, narrow palate, Protruding ear, Eruption failure, Megalocornea, Keratoconus, A... |
OMIM:230740 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Frontal bossing, Decreased response to growth hormone stimulation test, Anterior pituitary hypopl... |
OMIM:618160 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Microdontia, A... |
OMIM:619194 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Depressed nasal b... |
OMIM:608091 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Anophthalmia, Hypermelanotic macule, Delayed eruption of primary teeth, He... |
ORPHA:90322 |
Gillespie Syndrome |
|
Cerebellar atrophy, Hypoplasia of the iris, Cerebellar hypoplasia, Aniridia, Ventriculomegaly |
OMIM:206700 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation, Abnormal anterior chamber morphology |
ORPHA:3019 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Partial agenesis of the corpus callosum, Deeply set eye, Hypoplasia of the brainstem, Retinal dys... |
OMIM:614643 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Visual field defect, Retin... |
OMIM:615651 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Microcephaly, Generalized limb muscle atrophy, Myopathy, High palate, Delayed puber... |
ORPHA:2598 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Anteverted ears, Flexion contracture, Microcornea, Oligodontia, Fused teeth, Latera... |
OMIM:300166 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Blue sclerae, High palate, Chorioret... |
OMIM:234100 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Underdeveloped nasal alae, Albinism, Sensorineu... |
OMIM:193510 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Cataract, Microcephaly, Sensorineural hearing impairment, Flexion contractur... |
OMIM:618379 |
Distal Deletion 10Q |
|
Prominent nose, Micrognathia, Short metatarsal, Hypotelorism, Protruding ear, High palate, Spina ... |
ORPHA:96148 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Anteverted nares, Hypertelorism, Abnormality of the endocrine system, Cr... |
ORPHA:464288 |
Otodental Syndrome |
|
Lens coloboma, Microcornea, Periodontitis, Otitis media with effusion, Abnormal dental pulp morph... |
ORPHA:2791 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Coloboma, Int... |
OMIM:615583 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... |
OMIM:193235 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Epicanthus, Cataract, Prominent nasal bridge, Micrognathia, Hype... |
ORPHA:1587 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Reduced visual acuity, Developmental cataract, Posterior synechiae of the anteri... |
OMIM:616722 |
Muscle-Eye-Brain Disease |
|
Cataract, Hydrocephalus, Meningocele, Optic atrophy, Myopathy, Holoprosencephaly, Aplasia/Hypopla... |
ORPHA:588 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... |
OMIM:210370 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Synophrys, Deeply set eye, Contracture of the proximal interphalan... |
OMIM:615485 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Depressed nasal bridge, Hypogonadotropic hypogonadis... |
ORPHA:1387 |
Bresek Syndrome |
|
Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Cryptorch... |
ORPHA:85284 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Abnormally large globe, Anteriorly placed anus... |
OMIM:239300 |
Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microcephaly, Cryptorchidism, Anencephaly, Agenesis of corpus callosum, Dandy-Walk... |
OMIM:619148 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Supernumerary nipple, Micrognathia, Anteverted ears, Crypto... |
OMIM:613884 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Thin upper lip vermilion, Death in infancy, Cerebellar vermis hypoplasia, ... |
OMIM:619135 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Micrognathia, Hypotelorism, Deeply... |
OMIM:618454 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Smith-Kingsmore Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Diastasis recti, Rhizomelia, H... |
OMIM:616638 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ventriculomegaly, Cataract, Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Camptodactyly of... |
ORPHA:48431 |
Pontocerebellar Hypoplasia Type 10 |
|
Highly arched eyebrow, Underdeveloped nasal alae, Optic atrophy, Wide nasal bridge, Abnormal brai... |
ORPHA:411493 |
Mulibrey Nanism |
|
Wide nose, Depressed nasal bridge, Corneal dystrophy, Dental crowding, Hypertelorism, Absent fron... |
OMIM:253250 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Microcornea, Deeply set eye,... |
OMIM:257850 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Visual impairment |
ORPHA:3085 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corp... |
OMIM:615948 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Chorioretinal lacunae, Partial agenesis of the corpus callosum, Dil... |
OMIM:304050 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy, Cerebral visual impairment |
OMIM:618234 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Optic disc hypo... |
OMIM:619306 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Agenes... |
OMIM:200990 |
Gms Syndrome |
|
Epicanthus, Rieger anomaly, Depressed nasal bridge, Microcephaly, Low-set ears, Downslanted palpe... |
ORPHA:2090 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst... |
ORPHA:255182 |
Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Highly arched eyebrow, Hypertelorism,... |
ORPHA:1388 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Abnormal eyelid morphology, Deeply set eye, Aplasia/Hypoplasia of the cerebellum, Microdontia, Ag... |
ORPHA:1812 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Hypertelorism, High palate, Low-set ears, Narrow mouth, Short nose, Downslanted palpeb... |
ORPHA:217385 |
19P13.13 Microdeletion Syndrome |
|
Chiari type I malformation, Deeply set eye, High palate, Anteverted nares, Depressed nasal bridge... |
ORPHA:357001 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Peripheral v... |
OMIM:268315 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Thin upper lip vermilion, Epicanthus, Cerebellar vermis hypoplasia, Depressed... |
OMIM:618590 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Cerebellar vermis hypoplasia, Multiple joint contracture... |
ORPHA:370968 |
Frontorhiny |
|
Encephalocele, Low-set, posteriorly rotated ears, Epicanthus, Cataract, Camptodactyly of finger, ... |
ORPHA:391474 |
8Q21.11 Microdeletion Syndrome |
|
Sclerocornea, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Iris hypopi... |
ORPHA:284160 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Sclerocornea, Micrognathia, Protruding ear, Downturned corners of mouth, High palate, Short philt... |
OMIM:614230 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Lobulated tongue, Molar tooth sign on MRI, Short tibia, Dandy-Walker malformation... |
OMIM:616300 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Celiac disease, Bulbous nose, ... |
ORPHA:284169 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Micrognathia, Flexion contracture, Glossoptosis, Hypoplasia of the brain... |
OMIM:254940 |
Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Hypoplasia of the pons, Hypoplasia of the brainstem, Anteverted nares, Sparse eyebr... |
ORPHA:444072 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cataract, Rhizomelia, Hypertelorism, Micrognathia, Wide nasal bridge, Downturned corners of mouth... |
ORPHA:93267 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Undete... |
ORPHA:436245 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased muscle mass, Ptosis, Ant... |
OMIM:615663 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Hypertelorism, Sensorineural hearing impair... |
OMIM:615636 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Microcephaly, Low-set ears, Long philtrum, Short nose... |
ORPHA:46 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Hypotelorism, Coloboma, Deepl... |
OMIM:616975 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypertelo... |
ORPHA:1529 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Mend Syndrome |
|
Telecanthus, Cataract, Prominent nasal bridge, Abnormal auditory evoked potentials, Micrognathia,... |
ORPHA:401973 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Micrognathia, Deep philtrum, Downturned corners of mouth, Abnormal thalamus morphology, Bifid uvu... |
ORPHA:404440 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Sparse eyelashes, Bilateral ptosis, Hypertelorism, Bilateral cryptorchidism, Celi... |
ORPHA:544488 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hypoplasia of the iris, Abnormality of skin pigmentation, Chorio... |
ORPHA:2092 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hypertelorism, Hydrocephalus, Ver... |
OMIM:614195 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aplasia/Hypoplasia of the patella, Cryptorchidism, Aniridia, Ptosis |
ORPHA:1069 |
2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Hypertelorism, Abnormality ... |
ORPHA:1617 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Decreased muscle mass, Narrow nasal ridge, Hypertelorism, Microcephaly, Bulbous nose, Hydrocephal... |
OMIM:612940 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Photophobia, Pseudophakia, Posterior uveitis, Corneal kerati... |
ORPHA:209959 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal eyelid morphology, Abnorma... |
ORPHA:193 |
Idiopathic Panuveitis |
|
Blindness, Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal m... |
ORPHA:280921 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Cerebellar vermis hypoplasia, Depressed nasal bridge, Anteverted nares, Camptod... |
OMIM:616920 |
Frontofacionasal Dysplasia |
|
Orofacial cleft, Ankyloblepharon, Microcornea, Eyelid coloboma, Bifid uvula, Iris coloboma, Hypop... |
OMIM:229400 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Hypertelorism, ... |
OMIM:167730 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Hypertelorism, Microc... |
OMIM:156610 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Flexion contracture, Optic atrophy, Deve... |
OMIM:613154 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Coloboma, Conjunctival hyper... |
ORPHA:2399 |
Ring Chromosome 8 Syndrome |
|
Epicanthus, Anteverted nares, Round ear, Short nose, Abnormal palate morphology |
ORPHA:1450 |
Developmental And Epileptic Encephalopathy 28 |
|
Epicanthus, Anteverted nares, Microcephaly, Optic atrophy, Progressive microcephaly, Blue sclerae... |
OMIM:616211 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation, Agenesis... |
OMIM:207950 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity, Proptosis, Thin vermilion border, Narrow mout... |
ORPHA:2370 |
Night Blindness, Congenital Stationary, Type 1B |
|
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... |
OMIM:257270 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hearing impairment, Flexion contracture, Optic atr... |
OMIM:618651 |
Cln3 Disease |
|
Blindness, Cataract, Bull's eye maculopathy, Amblyopia, Optic atrophy, Pigmentary retinopathy, Pr... |
ORPHA:228346 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Hypoplasia of the maxilla, Sensorineural hearing impairment, Abnorm... |
ORPHA:90653 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Myopic astigmatism, Absent foveal reflex, ... |
OMIM:216900 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Micrognathia, Hydrocephalus, Depressed nasal ridge, Wide mouth, Sho... |
ORPHA:163966 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Anteverted nares, Facial palsy, Aplasia/Hypoplasia of the to... |
ORPHA:1358 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Cataract, Anteverted nares, Tented upper lip vermilion, Uplifted earlobe, Hypertelori... |
OMIM:616449 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Marshall-Smith Syndrome |
|
Irregular dentition, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Glossoptosis, B... |
OMIM:602535 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Cataract, Micrognathia, Missing rib... |
ORPHA:3301 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Telecanthus, Depressed nasal bridge, Anteverted nares, Abnormal pinna morphology, Micrognathia, H... |
OMIM:217980 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Hypertelorism, Hypoplasia of the maxilla, Keratitis, Hydr... |
OMIM:123500 |
Mucolipidosis Type Iv |
|
Photophobia, Abnormality of retinal pigmentation, Retinopathy, Corneal opacity |
ORPHA:578 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia,... |
OMIM:617802 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Visual loss, Optic atrophy, Abnormality of skin pigmentation, Microphthalmia |
OMIM:612379 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Micrognathia, Agenesis of corpus callosum, Dandy-Walker malformation, Depressed nasal bridge, Ant... |
OMIM:257300 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... |
ORPHA:101030 |
Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Anteverted nares, Bulbous nose, Prominent eyelashes, Upslanted palpebral... |
OMIM:616420 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Ptosis, Telecanthus, Abnormal pinna morphology, Highly arched eyebrow, ... |
OMIM:614583 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Accessory ... |
ORPHA:79113 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Central scotoma, Optic atrophy, Slo... |
OMIM:601152 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Hypertelorism, Micrognathia, Wide nasal bridge, Abnormal antihelix morphol... |
ORPHA:1438 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Cataract, Hypertelorism, Hypoplasia of the... |
ORPHA:1493 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Amblyopia, Astigmatism, Abnormality of vi... |
OMIM:617523 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Hypoplastic nasal septum, Short philtrum, Lower limb undergrowth, C... |
OMIM:186500 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Retinal dystrophy, Optic atrophy, Photophobia, High hypermetropia, Visua... |
ORPHA:1021 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Epicanthus, Depressed nasal bridge, Highly arched eyebrow, Microcephaly, Supernumerary tooth, Sub... |
OMIM:617412 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Protruding ear, Blue sclerae, High palate, Microretrognathia, Low-set, pos... |
ORPHA:2953 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Ventriculomegaly, Median cleft lip, Anteverted nares, Proboscis, Alobar holop... |
OMIM:619895 |
Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High palate, Thick upper lip vermilion, Depressed nasal ... |
ORPHA:560 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Anteverted nares, Sparse eyelashes, Microcephaly, Partial agenesis of the corpus call... |
OMIM:234050 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Reduced visual acuity, Retinal coloboma, Lens subluxation, Iris co... |
OMIM:216820 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Microcephaly, Cleft lip, Single naris... |
OMIM:142945 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
OMIM:173100 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Micrognat... |
ORPHA:363528 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... |
ORPHA:1067 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, Microcephaly, Cupped ear, B... |
OMIM:617101 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Cataract, Ovarian fibroma, Epicant... |
ORPHA:77301 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Micrognathia, Partial agenesis of the corpus callosum, Chiari type I... |
OMIM:270400 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Micrognathia, Synophrys, Oligodontia, High palate, Short philtrum, Scapular wing... |
OMIM:617061 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Abnormality of retinal pigmentation, Hypermetropia, Keratoglobus, Astigmatism, Retin... |
OMIM:108145 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy, Visual impairment |
OMIM:252011 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormality of the ear, Hypotelorism, Microcornea, Deeply se... |
ORPHA:2710 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Anterior pituitary hypoplasia, Cryptorchidism, Meningocele, Brachycephaly, Hypopit... |
ORPHA:1827 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:160700 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus |
ORPHA:2801 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:617238 |
Ramos-Arroyo Syndrome |
|
Xerostomia, Choanal stenosis, Smooth tongue, Anteverted nares, Depressed nasal bridge, Hypertelor... |
ORPHA:1051 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Camptodactyly of 2nd-5th fingers, High palate, Foot olig... |
ORPHA:1106 |
Zellweger Syndrome |
|
Micrognathia, High palate, Death in infancy, Depressed nasal bridge, Abnormal chorioretinal morph... |
ORPHA:912 |
Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Papilledema, Wide nose, Mandibular prognathia, Depressed nasal bridge,... |
OMIM:614188 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
D-Lactic Aciduria With Gout |
|
Aniridia, Downslanted palpebral fissures, Microcephaly |
OMIM:245450 |
Chromosome 9P Deletion Syndrome |
|
Micrognathia, High, narrow palate, Deep philtrum, Blue sclerae, High palate, Depressed nasal brid... |
OMIM:158170 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Photophobia, Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, Micromelia, H... |
ORPHA:628 |
Woolly Hair |
|
Hypopigmentation of hair, Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Decreased response to growth hor... |
OMIM:216550 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... |
OMIM:609049 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Prominent nose, Micrognathia, Depressed nasa... |
OMIM:156200 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Anophthalmia, Microtia, third degree, Spina bifida, Micrognathia, Aqueduct... |
ORPHA:3412 |
Vacterl/Vater Association |
|
Occipital encephalocele, Anencephaly, Cryptorchidism |
ORPHA:887 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Wide nose, Micrognathia, Bifid nasal tip, Underdeveloped nasal alae, Hypertelorism... |
ORPHA:398156 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Anteverted nares, Depressed nasal ridge,... |
ORPHA:1355 |
Kaufman Oculocerebrofacial Syndrome |
|
Micrognathia, Microcornea, High palate, Depressed nasal bridge, Anteverted nares, Hypertelorism, ... |
OMIM:244450 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hypertelorism, Broad nasal tip, Microcephal... |
OMIM:615716 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Pectoral muscle hypoplasia/aplasia, Eyelid coloboma, Aplasia/Hypoplasi... |
ORPHA:306542 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Epicanthus, Telecanthus, Anteverted ... |
ORPHA:1915 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Micrognathia, Hypoplasia of the pons, Deep philtrum, Synophrys, Hypoplas... |
OMIM:614969 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Abnormal pinna morphology, Micrognathia, Microcephaly, Recurrent upper ... |
ORPHA:3078 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Diabetes mellitus, Abnormal fifth cranial nerve morphology, Corneal scarring, C... |
ORPHA:137596 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Telecanthus, Agenesis of cerebellar vermis, Depressed nasal bridge, Anteverted nar... |
ORPHA:228390 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Blue sclerae, Aplasia/Hypoplasia of the gal... |
ORPHA:264450 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Camptodactyly of finger, Hyp... |
OMIM:612350 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Mandibular prognathia, High-frequency sensorineural hearing impairment, Relative macrocephaly, Hy... |
ORPHA:2324 |
Oculopharyngodistal Myopathy 3 |
|
Photophobia, Pigmentary retinopathy |
OMIM:619473 |
Peho Syndrome |
|
Cerebellar atrophy, Epicanthus, Tented upper lip vermilion, Optic atrophy, Progressive microcepha... |
OMIM:260565 |
Saul-Wilson Syndrome |
|
Narrow nasal bridge, Short metacarpal, Cataract, Micrognathia, Wide anterior fontanel, Sensorineu... |
OMIM:618150 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Camptodactyly of finger, Micrognathia, Prominent nose, Microcephaly, Developmental cata... |
OMIM:610756 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Deep philtrum, Synophrys, Downturned corners of mouth, Coloboma, Short palm, Abnorm... |
ORPHA:251014 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, Myopia |
ORPHA:1496 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Cerebellar vermis hypoplasia, Hypertelorism, Sensorineural hearing impairment, Hypoplasia of the ... |
OMIM:602482 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin d... |
OMIM:214800 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Acromicric Dysplasia |
|
Short palm, Abnormal eyebrow morphology, Short metacarpal, Anteverted nares, Decreased nerve cond... |
ORPHA:969 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma, Telecanthus |
OMIM:206750 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid coloboma, Hypoplasia of the thymus,... |
ORPHA:861 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Telecanthus, Facial hypotonia, Dental crowding, Hypertelorism, Narrow mouth, Protruding ear, Blue... |
OMIM:615539 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Anteverted nares, Optic atrophy, Downturned corner... |
ORPHA:1185 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Hypopigmented skin patches, Iris coloboma |
ORPHA:1553 |
Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Wide nose, Epicanthus, Micrognathia, Microcephaly, Flexion contracture, Optic... |
OMIM:615851 |
Jaberi-Elahi Syndrome |
|
Cataract, Depressed nasal bridge, Sparse eyelashes, Microcephaly, Sparse eyebrow, Optic atrophy, ... |
OMIM:617988 |
Hartsfield Syndrome |
|
Wide nose, Median cleft lip, Posteriorly rotated ears, Epicanthus, Hypertelorism, Alobar holopros... |
OMIM:615465 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic nerve hypoplasia, Micrognathia, Hypertelorism, Microcephaly, Sensorineural hearin... |
ORPHA:163937 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Ptosis, Dental crowding, Posteriorly rotated ears, Micrognat... |
OMIM:614669 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Visual loss, Nyctalopia, Axonal degeneration, ... |
ORPHA:88628 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen... |
OMIM:615986 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Visual impairment |
ORPHA:2518 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Freckling, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, ... |
OMIM:610651 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Hypertelorism, Hypoplasia of the maxilla, Abnormality of the dentition, Abnormal ey... |
ORPHA:2095 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Synophrys, Blue sclerae, Aplasia/Hypoplasia of the gallbladder... |
ORPHA:96092 |
Al-Gazali-Bakalinova Syndrome |
|
Depressed nasal bridge, Hypertelorism, Wide nasal bridge, Low-set ears, Macrocephaly, Molar tooth... |
OMIM:607131 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... |
ORPHA:2715 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Deep philtrum, High palate, Absent eyebrow, Anteverted nares, Depressed nasal bridg... |
OMIM:115150 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Micrognathia... |
OMIM:301043 |
Warburg Micro Syndrome 2 |
|
Cataract, Optic atrophy, Developmental cataract, Microcornea, Undetectable visual evoked potentia... |
OMIM:614225 |
Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Short philtrum, Bifid uvula, Depre... |
OMIM:301022 |
Joubert Syndrome 35 |
|
Telecanthus, Cerebellar vermis hypoplasia, Anteverted nares, Depressed nasal bridge, Highly arche... |
OMIM:618161 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Hypogonadism, Hypopit... |
OMIM:615849 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Glossoptosis, Oligodontia, Short palm, Anodontia, Encephalocele, Depressed nasal br... |
ORPHA:90652 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Posteriorly rotated ears, Abnormal retinal morphology, Prominent nasal bridge, Micrognathia, Camp... |
OMIM:610758 |
Isolated Hemihyperplasia |
|
Cryptorchidism, Myelomeningocele |
ORPHA:2128 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Micrognathia, Short philtrum, Anteverted nares, Sparse eyebrow, Cryptorchidism, Wide nasal bridge... |
OMIM:613026 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Holoprosencephaly 11 |
|
Microcephaly, Cleft lip, Synophrys, Cleft palate, Hypotelorism, Proptosis, Holoprosencephaly, Age... |
OMIM:614226 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Anteverted nares, Prominent nasal bridge, Macrodontia, Underdeveloped nasal alae, Hyp... |
OMIM:617883 |
Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Mic... |
ORPHA:1716 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Hypertelorism, Decreased circulating osteocalcin level, Long philtrum, Short nose, Cen... |
OMIM:125700 |
X-Linked Mandibulofacial Dysostosis |
|
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology |
ORPHA:1131 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida, Microcephaly |
ORPHA:64754 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Micrognathia, Prominent nose, High, narrow palate... |
ORPHA:435638 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, Choanal stenosis, High palate, N... |
OMIM:259775 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Prominent nasal bridge, Hypertelorism, Bilateral cryptorchidism, Abnormal cerebellum ... |
OMIM:618652 |
Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Micrognathia, Hypoplasia of the maxilla, High palate, Short philtrum, S... |
OMIM:212720 |
Braddock-Carey Syndrome 2 |
|
Microcephaly, Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the exter... |
OMIM:619981 |
Microcephaly-Capillary Malformation Syndrome |
|
Ptosis, Wide nose, Hearing impairment, Hypertelorism, Hypoplasia of the maxilla, Optic atrophy, C... |
OMIM:614261 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Micrognathia, Lobulated tongue, High palate, Conductive hearing imp... |
OMIM:277170 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Posteriorly rotated ears, Adrenal hypoplasia, Cleft upper lip, M... |
OMIM:264480 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Large central visual field defect, Blindness, Visual loss, Pigmentary retinopa... |
ORPHA:79264 |
Toriello-Carey Syndrome |
|
Micrognathia, Partial agenesis of the corpus callosum, Anteriorly placed anus, Anotia, High palat... |
ORPHA:3338 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, Long nose, High palate, Short philtrum, De... |
OMIM:615866 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
Fg Syndrome Type 1 |
|
Dental crowding, Micrognathia, Prominent nose, Fused teeth, High palate, Hypertelorism, Malrotati... |
ORPHA:93932 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Ectopia lentis, Microcephaly, Deeply set eye, Thick vermilion border, Long philtrum, Short nose |
ORPHA:833 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Epicanthus, Hypergonadotropic hypogonadism, Hypertelorism, Abnormality of the m... |
ORPHA:90646 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar vermis hypoplasia, Micrognathia, Glossoptosis, High palate, Conductive hearing impairm... |
OMIM:611209 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, Aplasia of the distal phalanx o... |
OMIM:608670 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Uplifted earlobe, Micrognathia, High palate, Death in infancy, Hypert... |
OMIM:618580 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Epicanthus, Micrognathia, Microcephaly, Cryptorchidism, Narrow mouth, Sensorineural hearing impai... |
OMIM:616817 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Prominent nose, Micr... |
OMIM:619244 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Short-Rib Thoracic Dysplasia 12 |
|
Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, Hamartoma of tongue, Hypertelori... |
OMIM:269860 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Telecanthus, Short femur, Anteverted nares, Posteriorly rotated ears, Micrognathia, Hypertelorism... |
OMIM:616897 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n... |
ORPHA:177907 |
Aniridia And Absent Patella |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the patella |
OMIM:106220 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Myopia, Cataract, Optic atrophy, Reduced visual acuity, Ectopia pupillae, Astigmatism, Microphtha... |
OMIM:618727 |
Ohdo Syndrome |
|
Ptosis, Epicanthus, Depressed nasal bridge, Anteverted nares, Hearing impairment, Micrognathia, S... |
OMIM:249620 |
Kabuki Syndrome 2 |
|
Micrognathia, Protruding ear, Blue sclerae, High palate, Highly arched eyebrow, Short columella, ... |
OMIM:300867 |
Norrie Disease |
|
Sclerocornea, Abnormal pupil morphology, Hypotelorism, Hypoplasia of the iris, Deeply set eye, Pr... |
ORPHA:649 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Short distal phalanx of finger |
OMIM:311895 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Adrenal hypoplasia, Micrognathia, High, narrow palate, High palate, Death in childhood, Anteverte... |
OMIM:214100 |
Pycnodysostosis |
|
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Prominent nose, ... |
ORPHA:763 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Retinal detachment, Rieger anomaly, Tented upper lip vermilion, Microcepha... |
ORPHA:521445 |
Steinfeld Syndrome |
|
Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morph... |
OMIM:184705 |
Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Epicanthus, Cerebellar vermis hypoplasia, Prominent nasal brid... |
ORPHA:2754 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, 11 pairs of ribs, Prominent nasal bridge, Micrognathia, Decreased nerve condu... |
OMIM:618356 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Anteverted nares, Hypertelorism... |
ORPHA:884 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Abnormality of per... |
ORPHA:585 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum... |
OMIM:194190 |
Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Orofacial cleft, Congenital bilate... |
ORPHA:1692 |
Acrocephalopolydactyly |
|
Epicanthus, Hypertelorism, Depressed nasal ridge, Microtia, Limb undergrowth, Short nose |
ORPHA:221054 |
Laron Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia involving the nose, Hypoplastic nasal bridge, Micro... |
ORPHA:633 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Blindness, Myopia, Cataract, Nyctalopia, Visual field defect... |
ORPHA:886 |
Potocki-Shaffer Syndrome |
|
Epicanthus, Telecanthus, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mout... |
OMIM:601224 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Blue scle... |
ORPHA:1507 |
Renal Coloboma Syndrome |
|
Myopia, Optic disc coloboma, Optic nerve dysplasia, Retinal coloboma, Visual impairment |
ORPHA:1475 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Cryptorchidism, Hydrocephalus, Brachycephaly, Abnormal shape of the occiput, Mal... |
OMIM:218350 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Micrognathia, Aqueductal stenosis, Absent thumb, Short tibia, Absent radiu... |
OMIM:251230 |
Fraser Syndrome |
|
Cleft ala nasi, Anophthalmia, Dental crowding, Orofacial cleft, Malformed lacrimal duct, High pal... |
ORPHA:2052 |
Fryns Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, High palate, Agenesis ... |
ORPHA:2059 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Small hand, Antec... |
OMIM:619339 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Depressed nasal bridge, Anteverted nares, ... |
ORPHA:1458 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... |
ORPHA:2182 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Micrognathia, Microcornea, Premature graying of hair, Anteriorly placed an... |
OMIM:268400 |
Fibrochondrogenesis 1 |
|
Short palm, Megalocornea, Posterior vertebral hypoplasia, Depressed nasal bridge, Anteverted nare... |
OMIM:228520 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Depressed nasal ridge, Gonadotropin deficiency, Holoprosencephaly, Bifid uvul... |
ORPHA:672 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal flecks, Yellow/white lesions of the... |
ORPHA:100996 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Epicanthus, Aganglionic megacolon, Microcephaly, Hydroc... |
OMIM:613603 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ... |
ORPHA:279914 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Micrognathia, Hypotelorism, Lobulated tongue, Molar ... |
OMIM:249000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Micrognathia, Coloboma, Hypoplasia of the brainstem, Retinal dysplasia, Megalocornea, Retinal deg... |
OMIM:253280 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Macrocephaly, Astigmat... |
OMIM:614753 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc... |
ORPHA:440727 |
Lathosterolosis |
|
Ptosis, Epicanthus, Cataract, Anteverted nares, Hearing impairment, Micrognathia, Microcephaly, B... |
ORPHA:46059 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Anteverted nares, Hypertelorism, Optic atrophy, Wide nasal bridge, Upslanted p... |
OMIM:618437 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Blindness, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali... |
ORPHA:2031 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Hypertelorism, Posteri... |
OMIM:618774 |
Humero-Radial Synostosis |
|
Meningocele, Microcephaly |
ORPHA:3265 |
Trisomy 20P |
|
Micrognathia, Protruding ear, Downturned corners of mouth, Short philtrum, Microdontia, Low-set, ... |
ORPHA:261318 |
Fetal Trimethadione Syndrome |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Microcephaly, Synophrys, Overfolded helix, High... |
ORPHA:1913 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Shortening of all middle phalanges of the fingers, Depressed nasal bridge,... |
OMIM:101600 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Ptosis, Facial palsy, Abnormality of the endocri... |
ORPHA:2356 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Corneal opacity, Micrognathia, Underdeveloped nasal alae, Aplasia/Hypoplasia of... |
ORPHA:1234 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Horner syndrome, Deeply... |
OMIM:141300 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Band Heterotopia |
|
Plagiocephaly, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:600348 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Palpebral ... |
ORPHA:261144 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation, Astigmatism, Visual impairment |
ORPHA:1824 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Uplifted earlobe, Hypertelori... |
OMIM:300143 |
Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Hypertelorism, Aqueductal stenos... |
ORPHA:93259 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Prominent nose, Synophrys, Chiari type I malformation, Deeply set eye, Short philtrum, Depressed ... |
OMIM:618316 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Buphthalmos, Microcornea, Anterio... |
OMIM:269400 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Hypertelorism, Anteverted ears, Microcephaly, Upslanted palpebral fissure,... |
OMIM:618087 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Congenital diaphragmatic hernia, Micrognathia, Abnormally large globe, Blue sclerae, Microdontia,... |
OMIM:245600 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia, Hearing abnormality |
ORPHA:1065 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Blue sclerae, Depressed nasal ... |
OMIM:616894 |
Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:129900 |
Desmosterolosis |
|
Micrognathia, Partial agenesis of the corpus callosum, Hypoplastic nasal bridge, Anteverted nares... |
OMIM:602398 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology... |
ORPHA:467166 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cataract, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Anosmia, Single naris, Cleft... |
ORPHA:2250 |
Isolated Split Hand-Split Foot Malformation |
|
Aniridia, Sensorineural hearing impairment, Absent hand |
ORPHA:2440 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology, Microcephaly, Abnormal pituitary gland morphology, A... |
ORPHA:314621 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short palm, Thin upper lip vermilion, Depressed nasal bridge, Decreased response to growth hormon... |
OMIM:241410 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Hydrocephalus, Brachycephaly, Malar fla... |
ORPHA:93262 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Anterior pituitary hypoplasia, Micrognathia, Bilateral cryptorchidism, Elevated circulating thyro... |
OMIM:613457 |
Desbuquois Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, Anteverted na... |
ORPHA:1425 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Conductive hearing i... |
OMIM:620186 |
Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... |
OMIM:120330 |
Trisomy 17P |
|
Skeletal muscle atrophy, Micrognathia, Prominent nose, Flexion contracture, Orofacial cleft, High... |
ORPHA:261290 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Recurrent upper respiratory ... |
OMIM:614069 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Cerebellar atrophy, Mandibular prognathia, Prominent nasal bridge, Prominent nose, Microcephaly, ... |
OMIM:619576 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Ptosis, Cataract, Depressed nasal bridge, Decreased response to growth hor... |
OMIM:616007 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Dental crowding, Congenital diaphragmatic hernia, Synophrys, Hypotelorism, Dow... |
OMIM:301044 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on MRI, Dandy-Walker malforma... |
OMIM:617622 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Underdev... |
ORPHA:2083 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
16P12.1P12.3 Triplication Syndrome |
|
Unilateral ptosis, Epicanthus, Thick eyebrow, Decreased response to growth hormone stimulation te... |
ORPHA:485405 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Down Syndrome |
|
Depressed nasal ridge, Downturned corners of mouth, Conductive hearing impairment, Microdontia, H... |
ORPHA:870 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose, Short di... |
OMIM:155050 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma |
ORPHA:2328 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... |
ORPHA:439822 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Protruding ear, Short philtrum, Foot oligodactyly, Hypothyroidis... |
ORPHA:3258 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Uveitis, Microcornea, High palate, Joint contracture of the 5th finger,... |
OMIM:164200 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of ... |
ORPHA:3107 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Mixed hearing impairment, Short metacarpal, Ptosis, Long eye... |
OMIM:201180 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Anteverted nares, Microcephaly, Carious teeth, Wide anterior fontanel, High palate, Low-set ears,... |
OMIM:219200 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Microretrognathia, Low-set, posteriorly rotated ears, Telecanthus, Hama... |
ORPHA:434179 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hypoplasia of the brainstem, Congenital contracture, Persistent pupillary membrane, Agenesis of c... |
OMIM:613150 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Relative macrocephaly, Thin upper lip vermilion, Downturned corners of mouth, Upslanted palpebral... |
ORPHA:231137 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Rod-cone dystrophy, Subcapsular cataract |
OMIM:268020 |
De Barsy Syndrome |
|
Decreased muscle mass, Cerebellar vermis hypoplasia, Deeply set eye, Blue sclerae, High palate, H... |
ORPHA:2962 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Thick upper lip vermilion, Bifid uvula, Depressed nasal bri... |
OMIM:154780 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Reduced visual acuity, Rod-co... |
OMIM:615434 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Cerebral white matter atrophy, Abnormal midbrain morphology, Microcephaly, Co... |
ORPHA:356961 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Abnormal palate morphology, Short nose,... |
ORPHA:1200 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Visual field defect |
OMIM:618880 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia |
OMIM:619562 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Optic atrophy, Hypote... |
ORPHA:329178 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Cerebral visual impairment, Visual loss, Central scotoma, Op... |
ORPHA:52368 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Epicanthus, Depressed nasal bridge, Microcephaly, Conductive hearing impairme... |
OMIM:618500 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly |
OMIM:610023 |
Ohdo Syndrome, X-Linked |
|
Micrognathia, Prominent nose, High palate, Widely spaced teeth, Microdontia, Depressed nasal brid... |
OMIM:300895 |
Seckel Syndrome 2 |
|
Few cafe-au-lait spots, Micrognathia, Prominent nose, Microcephaly, Cerebellar hypoplasia, Microd... |
OMIM:606744 |
Cardiofaciocutaneous Syndrome |
|
High palate, Biparietal narrowing, Thickened helices, Low-set, posteriorly rotated ears, Antevert... |
ORPHA:1340 |
Weiss-Kruszka Syndrome |
|
Ptosis, Epicanthus, Anteverted nares, Exaggerated cupid's bow, Hearing impairment, Highly arched ... |
OMIM:618619 |
Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
Orofaciodigital Syndrome Xvi |
|
Depressed nasal bridge, Short palpebral fissure, Hamartoma of tongue, Low-set ears, Molar tooth s... |
OMIM:617563 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Micrognathia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesi... |
OMIM:619512 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Thin upper lip vermilion, Anteverted nares, Dental crowding, Posteriorly rotate... |
OMIM:617877 |
Leber Optic Atrophy |
|
Optic neuropathy, Visual loss, Central retinal vessel vascular tortuosity, Optic atrophy, Leber o... |
OMIM:535000 |
Kabuki Syndrome |
|
Congenital diaphragmatic hernia, Orofacial cleft, Protruding ear, Microcornea, Coloboma, Blue scl... |
ORPHA:2322 |
Desmosterolosis |
|
Micromelia, Micrognathia, Agenesis of corpus callosum, Bifid uvula, Low-set, posteriorly rotated ... |
ORPHA:35107 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus |
OMIM:618302 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Micromelia, Hypertelorism, Microcephaly, Cryptorchid... |
ORPHA:2772 |
Coach Syndrome 1 |
|
Encephalocele, Optic disc pallor, Occipital encephalocele, Cerebellar vermis hypoplasia, Antevert... |
OMIM:216360 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... |
OMIM:620107 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia, Flexion co... |
ORPHA:536471 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Retinal dystrophy, High myopia, Buphthalmos, Microphthalmia |
OMIM:616538 |
Zimmermann-Laband Syndrome 2 |
|
Underdeveloped nasal alae, Bifid nasal tip, Deep philtrum, Sensorineural hearing impairment, Syno... |
OMIM:616455 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Cleft pal... |
ORPHA:1988 |
17Q11.2 Microduplication Syndrome |
|
Sparse eyelashes, Abnormal dental enamel morphology, Microcephaly, Sparse eyebrow, Thin vermilion... |
ORPHA:139474 |
Acrootoocular Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, High, narrow palate, Hypotel... |
ORPHA:2980 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Myopia, Optic atrophy |
ORPHA:2971 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy, Myopia, Facial palsy |
OMIM:613156 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Micrognathia, Epicanthus inversus, Flexion contracture, Hypotelorism, Pr... |
OMIM:309590 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Micrognathia, Coloboma, Deeply set eye, High palate, Short philtrum, Microdontia... |
ORPHA:251028 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, High palate, Agenesis of corpus callosum, Death in infancy, Hypertelorism, Brushfie... |
OMIM:614866 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia |
ORPHA:2714 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Thin upper lip vermilion, Supernumerary nipple, Wide anterior fo... |
ORPHA:457279 |
Mosaic Trisomy 9 |
|
Corneal opacity, Camptodactyly of finger, Spina bifida, Micrognathia, Hypertelorism, Cryptorchidi... |
ORPHA:99776 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Micrognathia, Brushfield spots, Cryptorchidism, Hypertelor... |
OMIM:214110 |
WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
Aarskog-Scott Syndrome |
|
Hypoplasia of the maxilla, Bilateral cryptorchidism, Short palm, Anteverted nares, Elevated circu... |
OMIM:305400 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Aniridia, Cryptorchidism, Streak ovary |
OMIM:194072 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Epicanthus, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Hea... |
OMIM:618494 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Hydrocephalus, Brachycephaly, Multiple ... |
ORPHA:207 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... |
OMIM:605808 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Hypotelorism, Downturned corners of mouth, Deeply set eye, Blu... |
OMIM:264090 |
Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Epicanthus, Prominent nasal tip, Short nose, Smooth philtrum |
OMIM:618218 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Median cleft lip, Hypoplasia of the ulna, Mi... |
ORPHA:3186 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Epicanthus, Anteverted nares, Camptodactyly of finger, Abnormal pinna morpholo... |
ORPHA:261211 |
Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Hypertelorism, Holopr... |
OMIM:619879 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the abdominal wa... |
OMIM:612289 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, Hypertelorism, High, narrow palate, Hydrocephalus, Sensorineural hearing ... |
OMIM:619575 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Macrocephaly |
OMIM:260660 |
Pseudodiastrophic Dysplasia |
|
Anteverted nares, Rhizomelia, Micrognathia, Hypoplasia of the odontoid process, Blue sclerae, Cam... |
OMIM:264180 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Choanal atresia, Cleft upper lip, ... |
OMIM:607597 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Anteverted nares, Posteriorly rotated ears, Micrognathia, Hypertelo... |
OMIM:311900 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Depressed nasal bridge, An... |
OMIM:268310 |
Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Sclerocornea, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Ey... |
OMIM:613001 |
Nephroblastoma |
|
Aniridia |
ORPHA:654 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Reduced visual acuity, Hypermetropia, Corneal arcus, ... |
OMIM:217300 |
Antiphospholipid Syndrome, Familial |
|
Retinal detachment, Keratitis, Visual loss, Vitritis, Central retinal artery occlusion, Retinal v... |
OMIM:107320 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Cleft ... |
ORPHA:1790 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Epicanthus, Depressed nasal bridge, Hypertelorism, Microcephaly, Cryptorchidism, Low-set ears, Co... |
OMIM:616910 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Sclerocornea, Micrognathia, Adrenal hypoplasia, Uplifted earlobe, Protruding ear, M... |
OMIM:607932 |
Trigonocephaly 1 |
|
Epicanthus, Microcephaly, High, narrow palate, Synophrys, Wide nasal bridge, Hypotelorism, Upslan... |
OMIM:190440 |
Mmep Syndrome |
|
Microphthalmia, Visual impairment |
ORPHA:3434 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... |
ORPHA:950 |
Craniopharyngioma |
|
Papilledema, Enlarged pituitary gland, Abnormal nasal bone morphology, Hypogonadotropic hypogonad... |
ORPHA:54595 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Blepharophimosis, Cryptorchidism, Bi... |
OMIM:601186 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Uplifted earlobe, Micrognathia, Synophrys, Microcornea, Short palm, Microdontia, Depressed nasal ... |
OMIM:616734 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microphthalmia |
OMIM:206900 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Corneal opacity, Camptodactyly of finger, Underdeveloped nasal alae, Micrognath... |
ORPHA:1794 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Primary microcephaly |
OMIM:245570 |
Mycophenolate Mofetil Embryopathy |
|
Short palm, Congenital diaphragmatic hernia, Micrognathia, Hypertelorism, Hydrocephalus, Tracheoe... |
ORPHA:268249 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Photophobia, Macular degeneration, Hemeralopia, Dyschromatopsia, Visual impairment |
OMIM:617236 |
Nablus Mask-Like Facial Syndrome |
|
Hypoplasia of the maxilla, High palate, Small earlobe, Depressed nasal bridge, Anteverted nares, ... |
OMIM:608156 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Hydrocephalus, Depressed nasal ridge, Hypoplasia of the calcaneus, ... |
OMIM:300863 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Visual loss, Optic atrophy, Abnormality of visual evoked pot... |
OMIM:256600 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Anteverted nares, Micrognathia, Precocious puberty, Microcephaly, De... |
OMIM:619356 |
1Q21.1 Microdeletion Syndrome |
|
Epicanthus, Cataract, Microcephaly, Cryptorchidism, Hydrocephalus, Bulbous nose, Sensorineural he... |
ORPHA:250989 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Microcephaly, Cryptorchidism, Cleft palate, Orofacial cle... |
OMIM:601349 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Micrognathia, Long eyelashes, Short nose, Spina bifida occulta, Thick eyebrow |
ORPHA:1514 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Absent eyebrow, Microcephaly, Absent eyelashes, Short nose, Convex nasal ridge |
OMIM:200130 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Underdeveloped nasal alae, Long nose, Congenital stapes ankylosis, Conductive h... |
OMIM:184460 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Thick eyebrow, Corneal opacity, Anteverted nares, Posteriorly rotated ears, Micrognathia, Keratit... |
OMIM:602562 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Relative macrocephaly, Anteverted nares, Cleft soft palate, Posteriorly rotated ears, Micrognathi... |
OMIM:618529 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Short toe, Wide nasal bridge, Cleft palate, Short foot, Proptosis... |
OMIM:614078 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Congenital giant melanocytic nevus, Anteverted nares, Narrow nasal ... |
OMIM:137550 |
Grant Syndrome |
|
Depressed nasal bridge, Micrognathia, Open bite, Blue sclerae, Abnormal palate morphology |
ORPHA:2097 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Hypertelorism, Micrognathia, Cleft palate, Abnormal antihelix morphology, Microtia, M... |
ORPHA:2145 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Optic disc hypoplasia, Choanal stenosis, Upper limb muscle hypop... |
OMIM:607323 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Synophrys, Abnormal... |
ORPHA:3455 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Abnormal pinna morphology, Abno... |
ORPHA:556955 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Maternal diabetes, ... |
ORPHA:3157 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Micrognathia, Synophrys, Anotia, High palate, Agenesis of corpus... |
ORPHA:261112 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Conductive hearing impairment, Retinal degeneration, Papilledema, Ab... |
ORPHA:580 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia, Hamartoma of tongu... |
OMIM:311200 |
20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Short palm, Abnormal nasal bridge morphology, Low-set, posteriorly ro... |
ORPHA:363659 |
Mevalonic Aciduria |
|
Cerebellar atrophy, Optic disc pallor, Agenesis of cerebellar vermis, Cataract, Posteriorly rotat... |
OMIM:610377 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Chiari type I malformation, Oligodontia, Shallow orbits, Megaloc... |
ORPHA:1272 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... |
OMIM:616367 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Chromosome 3Q29 Duplication Syndrome |
|
Abnormally large globe, Microcephaly, Bulbous nose, Wide nasal bridge, Macrocephaly, Blepharophim... |
OMIM:611936 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Furrowed tongue |
OMIM:155900 |
Trisomy 10P |
|
Decreased muscle mass, Micrognathia, Abnormality of the ear, Orofacial cleft, High palate, Dandy-... |
ORPHA:171929 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... |
ORPHA:1352 |
Witteveen-Kolk Syndrome |
|
Glue ear, Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia,... |
OMIM:613406 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Micrognathia, Microcephaly, Esophagea... |
OMIM:610536 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... |
OMIM:300534 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey... |
OMIM:615873 |
Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Tented upper lip vermilion, Highly arched eyebrow, Micrognathia, Tr... |
OMIM:618460 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Protruding ear, Microcornea, Blue sclerae, High palate, Abnormal anterior chamber morphology, Lon... |
OMIM:601776 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology, Polymicrogyria |
OMIM:617757 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Myopia, Albinism, Silver-gray hair, Myopic astigmatis... |
OMIM:614077 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Depressed nasal bridge, Anteverted nares, Corneal opacity, Ec... |
ORPHA:2719 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Decreased testicular size, Hypoplasia of the maxilla, Mandibular prognathia, Brachycephaly |
ORPHA:93950 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Multiple joint contractures, Anteverted nares, Depressed nasal bridge, Mixed hearing... |
ORPHA:536467 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Midface retrusion |
ORPHA:2776 |
X-Linked Corneal Dermoid |
|
Visual loss, Abnormal pupil morphology, Corneal opacity, Visual impairment |
ORPHA:1661 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Depressed nasal ridge, Blue sclerae, Short palm, Low-set, posteriorly rotated ears, A... |
ORPHA:175 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Epicanthus, Prominent nasal bridge, Micrognathia, Carious teeth, Cryptorc... |
ORPHA:96097 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:612291 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Corneal opacity, Hypertelorism, Proptosis, Short ribs, ... |
OMIM:618961 |
Williams Syndrome |
|
Micrognathia, Rectal prolapse, Protruding ear, Microdontia, Chronic otitis media, Megalocornea, S... |
ORPHA:904 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Micrognathia, Hypertelorism, Microcephaly, Ragged-red muscle fibers, Depressed ... |
OMIM:600462 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Micrognathia, Duodenal stenosis, Microtia, Microphthalmia, Short nose |
ORPHA:2547 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Recurrent upper respiratory tract infections, Abnormal corneal endotheli... |
ORPHA:69736 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Mandibular prognathia, Smooth philtrum, Epicanthus, Depressed nasal bridge, P... |
OMIM:617804 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Underfolded helix, Hypertelorism, Abnormality of the thyro... |
ORPHA:2563 |
Friedreich Ataxia |
|
Optic atrophy, Reduced visual acuity, Visual field defect, Abnormality of visual evoked potential... |
OMIM:229300 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Depressed nasal bridge, Anteverted na... |
OMIM:614613 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Abnormal eyelid morphology, Hypoplasia of the thymus, Short philtrum, Conductive he... |
ORPHA:567 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Posteriorly rotated ears, Sparse eyelashes, Hypertelorism, Underdeveloped nasal a... |
OMIM:613456 |
Jacobsen Syndrome |
|
Microcornea, Eyelid coloboma, Agenesis of corpus callosum, Iris coloboma, Broad columella, Abnorm... |
ORPHA:2308 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Smooth philtrum, Decreased muscle mass, Anteverted nares, Broad nasal tip, Carious teeth, Subreti... |
ORPHA:357074 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, Coloboma, Eyelid coloboma, Blue sclerae,... |
OMIM:268300 |
Atelis Syndrome 2 |
|
Epicanthus, Remnants of the hyaloid vascular system, Micrognathia, Prominent nose, Diastema, Bulb... |
OMIM:620185 |
Even-Plus Syndrome |
|
Highly arched eyebrow, Bifid nasal tip, Dysplastic corpus callosum, Synophrys, Depressed nasal ri... |
OMIM:616854 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Epicanthus, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Hearin... |
OMIM:614114 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Visual impairm... |
OMIM:615994 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Congenital hypothyroidism, Aplasia/Hypoplasia of th... |
ORPHA:2255 |
Leigh Syndrome |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:256000 |
Mohr Syndrome |
|
Short palm, Telecanthus, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micro... |
OMIM:252100 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Uveitis, Glossoptosis, Hypothyroidism, Sparse eyebrow, Cryptor... |
ORPHA:2108 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Achondrogenesis |
|
Anteverted nares, Micromelia, Micrognathia, Macrocephaly, Long philtrum, Umbilical hernia, Short ... |
ORPHA:932 |
Stevenson-Carey Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Narrow mouth, Pierre-Robin... |
OMIM:611961 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Cataract, Freckling, Malabsorption, Microcephaly, Macro... |
OMIM:601675 |
Kleefstra Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Synophrys, Downturned corners of mouth, Thicke... |
ORPHA:261494 |
Achondrogenesis Type 1A |
|
Short palm, Anteverted nares, Micromelia, Micrognathia, Macrocephaly, Short foot, Long philtrum, ... |
ORPHA:93299 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Optic atrophy, Reduced visual acuity, Pigmentary retinopathy, Visual impairment |
OMIM:617282 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Epicanthus, Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Pro... |
OMIM:242860 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Swollen lip, Depressed nasal ridge, Neonatal death, Pterygium, Agenesis... |
OMIM:256520 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Highly arched eyebrow, Hypertelorism, Diastema, Deep philtrum, Talon cusp, Opti... |
OMIM:605282 |
Achondrogenesis Type 1B |
|
Anteverted nares, Micromelia, Micrognathia, Macrocephaly, Short foot, Long philtrum, Umbilical he... |
ORPHA:93298 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele... |
OMIM:601357 |
Fetal Valproate Spectrum Disorder |
|
Epicanthus, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mou... |
ORPHA:1906 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Myopia, Cerebral visual impairment, Optic atrophy, Hypermetropia, Astigmatism, Abnormality of vis... |
OMIM:616875 |
Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Lateral ventricl... |
OMIM:616602 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Cicatricial lagophthalmos, Fle... |
OMIM:263650 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypo... |
OMIM:619841 |
Xk Aprosencephaly Syndrome |
|
Microcephaly, Abnormal nostril morphology, Hypotelorism, Narrow mouth, Microphthalmia, Anal atresia |
ORPHA:3469 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Odontogenic keratocysts of the jaw, Cataract, Ovarian fibroma, Spina bifid... |
OMIM:109400 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Hypermetropia, Developmental cataract, Retinal calcification, Microphthalmia |
OMIM:127000 |
Ring Chromosome 21 Syndrome |
|
Microcephaly, Small hand, Holoprosencephaly, Multiple cafe-au-lait spots, Diabetes insipidus |
ORPHA:1445 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Bi... |
OMIM:180849 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose,... |
OMIM:620292 |
Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Abnormal pinna morphology, Hypertelorism, ... |
ORPHA:1912 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Micromelia, Cry... |
ORPHA:93329 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Cataract, Abnormal dental morpholog... |
ORPHA:568 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Unilateral ptosis, Micrognathia, Coloboma, Abnormal optic disc morphology,... |
ORPHA:508498 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Micromelia, Flexion contracture, Wide nasal bridge, Lat... |
OMIM:610015 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis... |
ORPHA:570 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Sclerocornea, Micrognathia, Aplasia/Hypoplasia of th... |
ORPHA:3472 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Cerebellar vermis hypoplasia, Micromelia, Microcephaly, Optic disc coloboma, Hy... |
OMIM:600092 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Epicanthus, Microcephaly, Hypotelorism, Hypoplastic vertebra... |
ORPHA:2163 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Protruding ea... |
OMIM:618332 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract, Depressed nasal bridge, Microcephaly, Anosmia, Hypogonadism, Short nose, Short nasal se... |
OMIM:302950 |
Vissers-Bodmer Syndrome |
|
Decreased head circumference, Holoprosencephaly |
OMIM:619033 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,... |
OMIM:231550 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Carious teeth, Hypertelorism, Sp... |
OMIM:604173 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Microcornea, Widely spaced teeth, Conductive hearing impairment, Spina ... |
ORPHA:709 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Micromelia, Micrognathia, Abnormal eyelid morphology, Flexion contractur... |
ORPHA:2671 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myopia, Blindness, Visual loss, Abnormal amplitude of flash visual evoked potentials, Reduced vis... |
ORPHA:168491 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Myopia, Corneal opacity, Amblyopia, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage,... |
OMIM:175780 |
3Q29 Microdeletion Syndrome |
|
Cataract, Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Microcephaly, Or... |
ORPHA:65286 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent nose, Long nose, Micrognathia, Microcornea, Heterochromia iridis, Iris coloboma, Highly... |
ORPHA:2995 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cataract, Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal alae, Hypertelorism,... |
OMIM:614438 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Bifid uvula, Lagophthalmos... |
OMIM:616580 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Synophrys, Large fleshy ears, High palate, Prominent superior crus of... |
ORPHA:280633 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Low-set, posteriorly rotated ears, Abnormality of the dentition, Carious teeth... |
ORPHA:1786 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia, Micrognathia, Large fleshy ears, High palate, Depressed nasal br... |
OMIM:614080 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Hypertelorism, Protruding tongue, Dysplastic corpus callosum, Microcephal... |
OMIM:619179 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy, Cataract, Homonymous hemianopia |
ORPHA:79095 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Hamartoma of tongue, Micrognathia, Hypertelorism, Highly arched eye... |
OMIM:619775 |
Alg3-Cdg |
|
Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Neural tube defect, Subcorti... |
ORPHA:79321 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evok... |
ORPHA:485421 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding,... |
OMIM:145420 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... |
OMIM:606519 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Epicanthus, Ectopia lentis, Irregularly spaced teeth, Blue sclerae, Recurrent sinusitis, Umbilica... |
OMIM:130000 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Hypertelor... |
ORPHA:1135 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Epicanthus, Anteverted nares, Supernumerary nipple, Micrognathia, Submucous cle... |
OMIM:619122 |
8P23.1 Microdeletion Syndrome |
|
Epicanthus, Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, External ear m... |
ORPHA:251071 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Blindness, Optic nerve hypoplasia |
OMIM:617914 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormality of taste sensation, Abnormal medulla oblongata morphology, Sinus... |
ORPHA:68 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Occipi... |
ORPHA:268810 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Epicanthus, Telecanthus, Frontal open bite, Micrognathia, Wide anterior fontanel, Short toe, Ging... |
OMIM:225410 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Depressed nasal bridge, Abnormal pinna morphology, Sparse eyelashes, Hypertelorism, Spa... |
ORPHA:35173 |
Caudal Duplication |
|
Cryptorchidism, Myelomeningocele, Spina bifida |
ORPHA:1756 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Toluene Embryopathy |
|
Epicanthus, Micrognathia, Microcephaly, Cryptorchidism, Protruding ear, Thin vermilion border, Hy... |
ORPHA:1920 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Highly arched eyebro... |
OMIM:618644 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Downturned corners of mouth, Deep... |
OMIM:617140 |
Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Hypertelorism, Aqueductal stenos... |
ORPHA:93260 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, Underdeveloped nasal alae, High, narrow palate, Lop ear, Short thumb, Cleft palate,... |
ORPHA:436003 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Abnormal pupil morphology, Per... |
ORPHA:101082 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Diaphragmatic eventration, Cataract, Anteverted nares, Contracture of the proximal interphalangea... |
OMIM:612394 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Posteri... |
OMIM:618430 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Smooth philtrum, Tented upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cessation of... |
OMIM:617527 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Hypertelorism,... |
OMIM:614749 |
Pai Syndrome |
|
Encephalocele, Telecanthus, Nasal polyposis, Depressed nasal bridge, Median cleft lip, Hypertelor... |
ORPHA:1993 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dental crowding, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Deeply set eye, ... |
OMIM:617296 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Telecanthus, Micromelia, Microcephaly, Hypoplasia of the iris, Deeply set eye, ... |
ORPHA:1422 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Cerebellar atrophy, Cataract, Microcephaly, Sensorineural hearing impairment... |
ORPHA:544503 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Cataract, Depressed nasal bridge, Posteriorly rotated ears, Hearing imp... |
OMIM:601353 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Myopia, Cerebral visual impairment, Optic atrophy, Astigmatism, Abnormality of visual evoked pote... |
ORPHA:480898 |
Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Microcephaly, Cryptor... |
OMIM:615803 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypertelorism, Micrognathia, Cryptorc... |
ORPHA:1752 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Anteverted nares, Micrognathia, Type II diabetes m... |
ORPHA:3191 |
Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism |
OMIM:215470 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Tented upper lip vermilion, Agenesis of corpus callosum, Dandy-Walker ... |
OMIM:229850 |
Plaa-Associated Neurodevelopmental Disorder |
|
Smooth philtrum, Low-set, posteriorly rotated ears, Tented upper lip vermilion, Micrognathia, Mic... |
ORPHA:521426 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Chiari type I malformation, Depressed nasal bridge, Hypertelorism, Wide na... |
OMIM:601088 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma, Iris coloboma |
OMIM:244300 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Miller-Dieker Syndrome |
|
Epicanthus, Abnormal upper lip morphology, Short nose, Anteverted nares |
ORPHA:531 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Tented upper lip vermilion, Blue sclerae, High palate, Bifid uvula, Scapul... |
OMIM:615582 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Micrognathia, Hypertelorism, Esophageal atresia, Hydrocephalus, Absent thumb,... |
OMIM:614083 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Bull's eye maculopathy, Decreased response to growth hormone stimulation test, Micrognathia, Hypo... |
OMIM:213980 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Blindness, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Knee flexion contracture, Blue sclerae, High palat... |
ORPHA:3103 |
Mevalonic Aciduria |
|
Low-set, posteriorly rotated ears, Cataract, Microcephaly, Blue sclerae, Downslanted palpebral fi... |
ORPHA:29 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Skeletal muscle atrophy, Wide nose, Death in infancy, Micrognathia, Protrudin... |
OMIM:608779 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Visual loss, Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potent... |
OMIM:125310 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, Short hallux, Hypertelorism, Aqueductal ... |
ORPHA:93258 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Increased size of nasopharyngeal adenoids, Conductive hearing impairment, Pa... |
ORPHA:217085 |
Lathosterolosis |
|
Epicanthus, Cataract, Anteverted nares, Bilobate gallbladder, Micrognathia, Microcephaly, Myelome... |
OMIM:607330 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Epicanthus, Cataract, Anteverted nares, Post... |
OMIM:247200 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Thick eyebrow, Depressed nasal bridge, Highly arched eyebrow, Downturned corners of mouth, Progre... |
OMIM:617865 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Protruding tongue, Cryptorchidism, Hydrocephalus, Sensorineural hearing impairm... |
OMIM:612938 |
Mepan Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy, Reduced visual acuity |
ORPHA:508093 |
Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic... |
ORPHA:141152 |
Neu-Laxova Syndrome 2 |
|
Ablepharon, Cataract, Spina bifida, Micrognathia, Hypertelorism, Microcephaly, Depressed nasal ri... |
OMIM:616038 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, High palate, Short philtrum, Median cle... |
OMIM:617746 |
16Q24.3 Microdeletion Syndrome |
|
Smooth philtrum, Anteverted nares, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, C... |
ORPHA:261250 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Overfolded helix, Macrocephaly, Chiari type I malform... |
OMIM:613735 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Prominent nasal bridge, Intestinal malrotation, Hypertelorism, Cryptorc... |
ORPHA:401935 |
Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Epicanthus, Microcephaly, Thin vermilion border, Narrow mouth,... |
ORPHA:3307 |
White-Kernohan Syndrome |
|
Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Epicanthus inversus, Hypotelorism, A... |
OMIM:619426 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Retinal telangiectasia, ... |
OMIM:158900 |
Sanjad-Sakati Syndrome |
|
Micrognathia, Deeply set eye, Congenital hypoparathyroidism, Hypoparathyroidism, Low-set, posteri... |
ORPHA:2323 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Epicanthus, Cataract, Posteriorly rotated ears, Facial palsy, Microgna... |
ORPHA:2780 |
Marfan Syndrome |
|
Retinal detachment, Skeletal muscle atrophy, Flat cornea, Dental crowding, Micrognathia, Lens lux... |
ORPHA:558 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy, Blindness, Reduced visual acuity |
ORPHA:3208 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Increased size of nasopharyngeal adenoids, Conductive hearing impairment, Pa... |
ORPHA:217093 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Prominent nose, High palate, Spontaneous conjunctival filtering bleb, Bifid uvula, Iris atrophy, ... |
OMIM:601552 |
Cockayne Syndrome A |
|
Mandibular prognathia, Abnormal peripheral myelination, Prominent nose, Abnormality of skin pigme... |
OMIM:216400 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss |
OMIM:226960 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Microphthalmia, Irregular hyperpigmentation, Retinopathy |
ORPHA:2505 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Cerebellar atrophy, Smooth philtrum, Depressed nasal bridge, Anteverted nares, Hypertelorism, Hyp... |
OMIM:616430 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Blue sclerae, Decreased cornea... |
OMIM:229200 |
Wolfram Syndrome 1 |
|
Pigmentary retinopathy, Cataract, Optic atrophy |
OMIM:222300 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Uveitis,... |
ORPHA:828 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Myopia, Hypopigmentation of hair, Albinism, Absent skin pigmentation, Wh... |
OMIM:203100 |
Proteus-Like Syndrome |
|
Retinal detachment, Myopia, Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperp... |
ORPHA:2969 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Synophrys, Downturned corners of mouth, Deeply set eye, Thin v... |
ORPHA:2983 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Miscarriage, Posteriorly rotated ears, Micromelia, Micrognathia, Microcephaly, Cry... |
ORPHA:1865 |
Mowat-Wilson Syndrome |
|
Uplifted earlobe, Microcornea, Deeply set eye, Widely spaced teeth, Chorioretinal coloboma, Agene... |
OMIM:235730 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Scapular winging, Mixed hearing impairment, Lacrimal duct stenosis, Carious te... |
OMIM:615560 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Deeply set eye, Congenital contracture, Lentiglobus, Retinal arteriolar ... |
ORPHA:191 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh... |
ORPHA:79098 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Wide nose, Cerebellar vermis hypoplasia, Epicanthus, Thick eye... |
ORPHA:1394 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Generalized hyperpigmentation, Anteverted nares, Aganglionic megacolon, Telecanthus, ... |
ORPHA:3339 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Knee flexion contracture, Deeply set eye, Blotching pigmentation of the skin, Smoot... |
OMIM:601559 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Depressed nasal bridge, Micromelia, Short palm, Shor... |
ORPHA:166272 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Hypertelorism,... |
OMIM:614207 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Epicanthus, Depressed nasal bridge, Anteverted nares, Microcephaly, Bila... |
OMIM:619743 |
Incontinentia Pigmenti |
|
Uveitis, Orofacial cleft, Abnormality of skin pigmentation, Blue sclerae, Spina bifida occulta, A... |
ORPHA:464 |
Congenital Myopathy 22B, Severe Fetal |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Synophrys, Flexion contracture, Deeply... |
OMIM:620369 |
Cadds |
|
Cerebellar atrophy, Cataract, Adrenal hypoplasia, Micrognathia, Sensorineural hearing impairment,... |
ORPHA:369942 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Cataract, Ectropion, Carious teeth, Bilateral cryptorchidism, Pyloric stenosis, Deve... |
OMIM:616395 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Telecanthus, Depressed nasal bridge, Carious teeth, Retinal pigment epithelial ... |
OMIM:617102 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Anteverted nares, Broad nasal tip, Thick lower lip vermilion, M... |
OMIM:300602 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Anophthalmia, Rhizomelia, Sclerocornea, Precocious puberty, Macrocephaly, M... |
OMIM:615877 |
Fg Syndrome 5 |
|
Epicanthus, Depressed nasal bridge, Anteverted nares, Diastema, Upslanted palpebral fissure, Long... |
OMIM:300581 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Median cleft lip, Hypertelorism, Microcephaly, Cleft palate, Proptosis, Holoprosencephaly, Low-se... |
ORPHA:2165 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Hyperthyroidism, Micrognathia, Increased variability in muscle fiber diameter,... |
ORPHA:502423 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
Alg9-Cdg |
|
Villous atrophy, Micrognathia, Large fleshy ears, Shallow orbits, Bifid uvula, Microretrognathia,... |
ORPHA:79328 |
Kabuki Syndrome 1 |
|
Premature thelarche, Micrognathia, Protruding ear, Blue sclerae, High palate, Highly arched eyebr... |
OMIM:147920 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Hypertelorism, Hydrocephalus, Blue sclerae, Proptosis, High palate, Macrocepha... |
OMIM:616294 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Frontal bossing, Anterior pituitary hypoplasia, Micrognathia, Cryptorchidi... |
OMIM:151050 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
Autosomal Dominant Omodysplasia |
|
Short palm, Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Hypertelorism, Crypt... |
ORPHA:93328 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Depressed nasal bridge, Hypertelorism, Microcephaly, Wide mouth, Low-set ears... |
OMIM:608776 |
Ravine Syndrome |
|
Abnormal brainstem morphology, Abnormal basal ganglia morphology, Atrophy/Degeneration affecting ... |
ORPHA:99852 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Short palm, Microdont... |
ORPHA:93357 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Micrognathia, Epicanthus inversus, Synophrys, Protruding ear, Deeply ... |
OMIM:613458 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Hypertelorism, Hurthle cell thyroid adenoma, Thyroi... |
ORPHA:210548 |
Diaphanospondylodysostosis |
|
Myelomeningocele |
ORPHA:66637 |
Dermotrichic Syndrome |
|
Depressed nasal bridge, Aganglionic megacolon, Blepharophimosis, Short nose, Macrotia |
ORPHA:99688 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Depresse... |
OMIM:301040 |
Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Short metacarpal, Cataract, Depressed nasal bridge, Anteverted nares, Posteri... |
ORPHA:1427 |
Chops Syndrome |
|
Cataract, Anteverted nares, Hypertelorism, Microcephaly, Cryptorchidism, High, narrow palate, Syn... |
OMIM:616368 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Deepl... |
ORPHA:268261 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Micrognathia, Prominent nose, Partial agenesis of t... |
OMIM:305450 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Flexion contracture, Microcornea, Premature graying of hair, Deeply set ... |
ORPHA:90324 |
Icf Syndrome |
|
Communicating hydrocephalus, Epicanthus, Depressed nasal bridge, Hypertelorism, Micrognathia, Pro... |
ORPHA:2268 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:352665 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Mixed hearing impairment, Cataract, Optic disc hypoplasia, Optic nerve hypoplasia, Short distal p... |
ORPHA:79345 |
Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Camptodactyly of finger, Intestinal malrotation, Hypertelorism, Protruding... |
OMIM:300963 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Hydrocephalus, Abnormal brainstem morphology, Dysgenesi... |
ORPHA:8 |
Meier-Gorlin Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Depressed nasal ridge, Conductive hearing ... |
OMIM:616835 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Ptosis, Intestinal p... |
OMIM:309900 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Thin upper lip vermilion, Thick eyebrow, Decreased response to growth hormone stimu... |
ORPHA:529962 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Narrow nasal tip, Supernumerary nipple, Hypertelorism... |
ORPHA:477993 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Telecanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, ... |
ORPHA:314655 |
Manitoba Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Hypertelorism, Bifid nasal tip, Broad nasal tip, Nasolacrimal duct o... |
OMIM:248450 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Diastema, Gingival overgrowth, Macrocephaly, Low-set ears, Retrognathia, P... |
OMIM:212066 |
Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Hypertelorism, Bifid nasal tip, Nasolacrimal duct obstruction, Upper... |
ORPHA:2717 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Absent lacrimal punctum, Diabetes mellitus, Underdev... |
ORPHA:2315 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Sparse eyelashes, Microcephaly, Bifid nasal tip, Sparse eyebrow, Unilat... |
OMIM:618874 |
Fanconi Anemia, Complementation Group I |
|
Myopia, Optic nerve hypoplasia, Astigmatism, Microphthalmia, Cafe-au-lait spot |
OMIM:609053 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Optic atrophy, Visual impairment |
ORPHA:702 |
C Syndrome |
|
Short metacarpal, Epicanthus, Anteverted nares, Posteriorly rotated ears, Accessory oral frenulum... |
OMIM:211750 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Medial flaring of the eyebrow, Dental crowding, Intestinal malrotation, Congenit... |
OMIM:617602 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Epicanthus, Depres... |
ORPHA:2831 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Absent gallbladder, Depressed nasal bridge, Abnormal pinna morphology, Hamartoma of ... |
OMIM:617925 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Chiari type I malformation, High palate, Shallow orbits,... |
OMIM:182212 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Rectal prolapse, Protruding ear, Abnormality of sk... |
ORPHA:235 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Peripheral axonal neuropathy, Anteverted nares, Micrognathia, Sparse eyebrow, Dysplastic corpus c... |
OMIM:618810 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Cerebellar vermis hypoplasia, Corneal dystrophy, Micrognathia, Hypoplasia of the pons, Synophrys,... |
ORPHA:495875 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Telecanthus, Hypogonadotropic hypogonadism, Hypertelorism, Synophrys, A... |
ORPHA:1295 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98754 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Pachygyria, Exencephaly, Macrogyria, Lissencephaly, Po... |
ORPHA:2211 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Chronic otitis... |
ORPHA:1452 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, Deeply set eye, High ... |
ORPHA:261337 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Ogden Syndrome |
|
Maternal diabetes, Micrognathia, Abnormal eyelid morphology, Deep philtrum, Protruding ear, Deepl... |
OMIM:300855 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Myopia, Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Hypermetropia, Bu... |
OMIM:251750 |
Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Severe hydrocephalus, Agenesis... |
OMIM:236680 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Synophrys, Flexion contracture, Otitis media, Conductive hearing impairment, Chronic... |
ORPHA:581 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Short hallux, Hypertelorism, Absent frontal sinuses, Wide nasal bridge,... |
OMIM:311300 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, Deeply set eye, Blue scle... |
ORPHA:500150 |
Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Diastema, Macrotia, Developmental cataract, Microcornea, ... |
OMIM:302350 |
Desbuquois Dysplasia 1 |
|
Microretrognathia, Depressed nasal bridge, Developmental glaucoma, Short metatarsal, Concave nasa... |
OMIM:251450 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Camptodactyly of finger, Hy... |
ORPHA:83 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Neonatal death, Vertebral hypoplasia, Encephalocele, Short metaca... |
OMIM:108720 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Protruding ear, Coloboma, High palate, Short philtrum, Death... |
OMIM:309500 |
Desbuquois Dysplasia 2 |
|
Relative macrocephaly, Short metacarpal, Epicanthus, Depressed nasal bridge, Dental crowding, Mic... |
OMIM:615777 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Spina bifida occulta, Skeletal muscle atrophy, Blue sclerae, Depressed nasal bridge |
ORPHA:2840 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Highly arched eyebrow, Hypertelorism, Protruding tongue, Cryptorchidism, Synoph... |
ORPHA:96147 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae, Myopia |
OMIM:156900 |
Al-Raqad Syndrome |
|
Thin upper lip vermilion, Microcephaly, Deeply set eye, Low-set ears, Narrow mouth, Short nose, H... |
OMIM:616459 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Epicanthus, Dental crowding, Micrognathia, Abnormality of the dentition, Unilateral r... |
ORPHA:476126 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera... |
ORPHA:71505 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Blindness, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral visual field loss, Visua... |
ORPHA:157850 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi... |
OMIM:616959 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Hypertelorism, Small hand, Cleft palate, Developmental catara... |
ORPHA:488642 |
Ring Chromosome 13 Syndrome |
|
Agenesis of corpus callosum, Anencephaly, Microcephaly |
ORPHA:96176 |
Teebi-Shaltout Syndrome |
|
Telecanthus, Highly arched eyebrow, Underdeveloped nasal alae, Hypertelorism, Broad nasal tip, Hi... |
OMIM:272950 |
Bosma Arhinia Microphthalmia Syndrome |
|
Absent tragus, Synophrys, Coloboma, High palate, Aplasia of the nose, Conductive hearing impairme... |
OMIM:603457 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Dental crowding, Rectal prolapse, Short metatarsal, Deeply set eye, High palate, Short metacarpal... |
OMIM:617157 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Abnormal pinna morphology, Rhizomelia, Sparse eyelashes, Sparse eyebrow, Concave nasal ... |
OMIM:302960 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Prominent nasal bridge, Posteriorly rotated ears, Bulbous nose, Flexion co... |
OMIM:613870 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Cataract, Depressed nasal bridge, Anteverted nares, Aplastic clavi... |
ORPHA:50945 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Hyperteloris... |
OMIM:608013 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98793 |
Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Micromelia, Synophrys, Microcornea, Downturned cor... |
ORPHA:199 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Blindness, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, ... |
OMIM:259770 |
Tarp Syndrome |
|
Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly rotated ears, Anteverted nares, H... |
ORPHA:2886 |
Developmental And Epileptic Encephalopathy 89 |
|
Flexion contracture, Death in childhood, Neonatal death, Long philtrum, Microretrognathia, Depres... |
OMIM:619124 |
Braddock Syndrome |
|
Congenital muscular torticollis, Epicanthus, Posteriorly rotated ears, Micrognathia, Missing ribs... |
ORPHA:52047 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom... |
OMIM:300912 |
Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Protruding ear, Abnormality of skin pigmentation, Short ... |
ORPHA:50 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Epicanthus, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atresia, Poste... |
ORPHA:2759 |
Prolidase Deficiency |
|
Depressed nasal bridge, Hypertelorism, Micrognathia, Concave nasal ridge, Proptosis, High palate,... |
OMIM:170100 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Microretrognathia, Scapular winging, Epicanthus, Hypoplasia of the mus... |
OMIM:278250 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Pr... |
OMIM:619503 |
Vici Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Albinism, Hypotelorism, Abnormal thymus morphology, H... |
OMIM:242840 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Depressed nasal bridge, Short lingual frenulum, Posteriorly rotated ears, Flexion ... |
OMIM:619479 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Intestin... |
OMIM:619321 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177904 |
Pterygium Colli, Isolated |
|
Epicanthus, Short nose, Protruding ear |
OMIM:177990 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short fourth metatarsal, Tented upper lip vermilion, Depressed nasal bridge, Short metacarpal, Ep... |
OMIM:616723 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... |
OMIM:616113 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Telecanthus, Camptodactyly of finger, Supernumerary nipple, Hypertelorism,... |
ORPHA:1236 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Epicanthus, Prominent nasal bridge, Microgn... |
ORPHA:1225 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Relative macrocephaly, Cataract, Posteriorly rotated ears, Micrognathia, Congenital sensorineural... |
OMIM:617306 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... |
ORPHA:49042 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Depressed nasal bridge, Highly arched eyebrow, Increased circulating gonadotropin le... |
OMIM:110100 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Micrognathia, Ectopia lentis, High, narrow palate, Flexion contracture, Wide nasal ... |
ORPHA:284979 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177901 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Myopathy, Amelogenesis imperfecta |
OMIM:612783 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Microcephaly, Cryptorchidism, Narrow mouth, Small ... |
ORPHA:3121 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Epicanthus, Hypertelorism, Deep philtrum, Blue sclerae, White ... |
ORPHA:2475 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Constriction of peripheral visual field, Cataract, Iridocyclitis, Reduced visual acuity, Keratoco... |
OMIM:240300 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Narrow nasal ridge, Micrognathia, Insulin-resistant di... |
OMIM:608612 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Few cafe-au-lait spots, Facial hypotonia, Dental crowding, Posteriorly rotated ears, Hyperteloris... |
OMIM:618106 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Ectopia lentis, Lens luxation, Hypertelorism, Microcephaly, Macrocephaly, Axonal loss, Thick verm... |
OMIM:252160 |
Marfan Syndrome |
|
Retinal detachment, Decreased muscle mass, Cataract, Dental crowding, Micrognathia, Ectopia lenti... |
OMIM:154700 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, High myopia, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Iris... |
OMIM:309801 |
Anterior Segment Dysgenesis 4 |
|
Abnormality of the dentition, Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Synophrys, Downturned corner... |
ORPHA:444077 |
Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Elbow contracture, Deep philtrum, Short metatarsal, Blue sclerae, High pal... |
OMIM:617137 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Midface retrusion |
ORPHA:1540 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Micrognathia, Short metatarsal, Patellar hypoplasia, Knee flexion contracture, Hand monodactyly, ... |
OMIM:609945 |
Deafness, X-Linked 7 |
|
Ptosis, Telecanthus, Posteriorly rotated ears, Unilateral microphthalmos, Wide nasal bridge, Atre... |
OMIM:301018 |
Classic Homocystinuria |
|
Retinal detachment, Myopia, Abnormality of retinal pigmentation, Cataract, Amblyopia, Ectopia len... |
ORPHA:394 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum |
ORPHA:99742 |
Deeah Syndrome |
|
Death in infancy, Decreased response to growth hormone stimulation test, Anterior pituitary hypop... |
OMIM:619004 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Anteverted nares, Microcephaly, Thick lower lip vermilion, Wide nasal b... |
ORPHA:1942 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Synophrys, Protruding ear, Abnormality of skin pigmentation, Coloboma, Deepl... |
OMIM:619475 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar atrophy, Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Abnormality... |
OMIM:615398 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Narrow nasal bridge, Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Pro... |
ORPHA:1806 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Cataract, Posteriorly rotated ears, Micromelia, Micrognathia, Microcepha... |
OMIM:224410 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Cataract, Corneal opacity, Protruding tongue, Hydrocephalus, Optic atrop... |
ORPHA:93400 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft palate, Glossoptosis |
ORPHA:3104 |
Infantile Neuroaxonal Dystrophy |
|
Blindness, Peripheral axonal neuropathy, Optic atrophy, Abnormal autonomic nervous system physiol... |
ORPHA:35069 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Epicanthus, Hypertelorism, Abnormality of the dentition, High,... |
ORPHA:1642 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate... |
OMIM:166250 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Anotia, Conductiv... |
OMIM:164210 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Generalized amyotrophy, Microglossia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616540 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Prominent nose, Micrognathia, Synophrys, Hypotelorism, Protruding ear, Dee... |
OMIM:612474 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, High palate, Agenesis of corpus callosum, Dandy-Wa... |
ORPHA:2745 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Tongue atrophy, Anteverted nares, Highly arched eyebrow, Micrognathia, Lag... |
OMIM:615065 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Abnormal pinna morphology, Persistence of p... |
OMIM:610253 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Short 3rd toe, Upslanted palpebral fissure, Deeply set eye, Blue sclerae, Proptosis, Short 4th to... |
OMIM:618707 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Amblyopia, Lens coloboma, Retinal vascular malfor... |
ORPHA:42775 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Ab... |
ORPHA:206448 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Lens coloboma, Cupped ear, Small thenar eminence, Lateral ve... |
OMIM:618914 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Reduced visual acu... |
ORPHA:790 |
Neuroocular Syndrome |
|
Synophrys, Lens coloboma, Microcornea, Deeply set eye, Downturned corners of mouth, Widely spaced... |
OMIM:619539 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Cataract, Death in infancy |
OMIM:614876 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Deep philtrum,... |
OMIM:613320 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Depressed nasal bridge, Anteverted nares, Persist... |
ORPHA:97360 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... |
ORPHA:320401 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Microcephaly, Simple ear, Bilateral microphthalmos, Unilateral microphthalmos,... |
OMIM:619318 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Micrognathia, Short metatarsal, Macular degeneration, High palate, Widely spaced teeth, Microdont... |
OMIM:266920 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Retinal vascular proliferation, Keratitis,... |
OMIM:308300 |
Parietal Foramina 1 |
|
Encephalocele, Cleft upper lip, Cleft palate, Blue sclerae, Macrocephaly |
OMIM:168500 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Depressed nasal bridge, Hypogonadotropic hypogonadism, Microcephaly, Esophage... |
OMIM:301030 |
Baller-Gerold Syndrome |
|
Micrognathia, Patellar hypoplasia, Anteriorly placed anus, Choanal stenosis, High palate, Conduct... |
OMIM:218600 |
Boomerang Dysplasia |
|
Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Neonatal d... |
OMIM:112310 |
Diaphanospondylodysostosis |
|
Epicanthus, Depressed nasal bridge, Hypertelorism, Micrognathia, Missing ribs, Depressed nasal ri... |
OMIM:608022 |
Trichothiodystrophy |
|
Multiple joint contractures, High, narrow palate, Partial agenesis of the corpus callosum, Hypote... |
ORPHA:33364 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Nar... |
OMIM:602483 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Retinopathy, Tongue atrophy, Optic atrophy |
ORPHA:216873 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Micrognathia, Conductive hearing impairment, Sensorineural h... |
ORPHA:536545 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short nose, Abnormal palate morphology, Long philtrum |
ORPHA:1389 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye, Short philtrum, Hypertelorism, ... |
OMIM:139210 |
Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Band keratopathy, Phthisis bulbi, Chorioretinal atrophy, H... |
OMIM:267750 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Deep philtrum, Depressed nasal ridge, Conductive hea... |
ORPHA:99843 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Small scrotum, Decreased response to growth hormone stimulation test, External... |
ORPHA:739 |
Autoimmune Polyendocrinopathy Type 3 |
|
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Thy... |
ORPHA:227982 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrenal hypoplasia... |
OMIM:614732 |
Microphthalmia-Brain Atrophy Syndrome |
|
Microcephaly, Bilateral microphthalmos, Lateral ventricle dilatation, Abnormal pons morphology, A... |
ORPHA:77299 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Tented upper lip vermilion, Short philtrum, Ventriculomegaly |
ORPHA:85277 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Encephalomalacia |
ORPHA:60015 |
Kinsship Syndrome |
|
Mandibular prognathia, Micrognathia, Synophrys, Downturned corners of mouth, Short philtrum, Wide... |
OMIM:619297 |
Ctcf-Related Neurodevelopmental Disorder |
|
Synophrys, Microcornea, Deeply set eye, Short philtrum, Joint contracture of the 5th finger, Micr... |
ORPHA:363611 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Microphthalmia, Annular pancreas |
ORPHA:2470 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, A... |
ORPHA:989 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased response to growth hormone s... |
OMIM:619476 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Chronic otitis media, Agenesis of corpus callosum, D... |
ORPHA:2750 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Microcephaly, Stillbirth, Blue sclerae, Developmental cataract |
OMIM:259410 |
Fanconi Anemia, Complementation Group G |
|
Multiple cafe-au-lait spots, Microphthalmia |
OMIM:614082 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris, Myopathy, Hypocalcification of dental enamel, Chronic otitis media, Amelo... |
ORPHA:169090 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Communicating hydrocephalus, Abnormal dental enamel morphology, Microg... |
ORPHA:2050 |
Hermansky-Pudlak Syndrome |
|
Myopia, Hypopigmentation of hair, Cataract, Partial albinism, Amblyopia, Ocular albinism, Melanoc... |
ORPHA:79430 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Cerebellar vermis hypoplasia, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld... |
OMIM:601631 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormally large globe, Insulin-resistant diabetes mellitus, Abnor... |
ORPHA:2457 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ... |
OMIM:618733 |
Osteogenesis Imperfecta, Type Xviii |
|
Abnormality of the dentition, Micrognathia, Wide nasal bridge, Blue sclerae, Long eyelashes, Umbi... |
OMIM:617952 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Rectal prolapse, Thick nasal septum, Protruding ear, High palate, Widely s... |
OMIM:303600 |
9q subtelomeric deletion syndrome |
|
Anteverted nares, Microcephaly, Protruding tongue, Synophrys, Short nose |
DECIPHER:52 |
Silver-Russell Syndrome 2 |
|
Downturned corners of mouth, Relative macrocephaly, Blue sclerae, Micrognathia |
OMIM:618905 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Chorioretinal dysplasia, Micrognathi... |
ORPHA:534 |
Degcags Syndrome |
|
Prominent nose, Micrognathia, Synophrys, Hypotelorism, Abnormality of skin pigmentation, Prematur... |
OMIM:619488 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Cholelithiasis |
OMIM:614886 |
Autoimmune Polyendocrinopathy Type 4 |
|
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Anterior pituitary dysgenesis, Thy... |
ORPHA:227990 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Telecanthus, Anteverted nares, Prominent nasal bridge, Posteriorly rota... |
ORPHA:1974 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Visual impairment, Abnormality of visual evoked potentials |
ORPHA:1933 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros... |
OMIM:300373 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Retinal detachment, Peripheral axonal neuropathy, Decreased muscle mass, Abnormal pinna morpholog... |
ORPHA:1900 |
Cherubism |
|
Constriction of peripheral visual field, Macular scar, Optic neuropathy, Reduced visual acuity, M... |
OMIM:118400 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Nyctalopia, Optic atrophy, Visual field defect, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:96180 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Hand muscle weakness, Limb-girdle muscle weakness, Upper limb mu... |
ORPHA:466768 |
Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, High, narrow palate, Ectropion of lower eyelids, Knee flexion contractu... |
OMIM:614976 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Myopia, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, De... |
OMIM:601455 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Aplasia/Hypoplasia of the ribs, Epicanthus, Rhizomelia, Decreased respo... |
ORPHA:319182 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Hypotelorism, Protruding ear, Deeply set eye, High palate, Hypothyroidis... |
OMIM:619325 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Sensorineural hearing impairment, Blue sclerae, Heterochromia iridis |
ORPHA:66633 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Wide nose, Intestinal polyposis, Antever... |
ORPHA:109 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Visual loss, Photoph... |
OMIM:203800 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Microcephaly, Wide nasal bridge, Buphthalmos, Joint contracture, High palate, Limb undergrowth, S... |
OMIM:618005 |
Vexas Syndrome |
|
Nasal chondritis, Sensorineural hearing impairment, Chondritis of pinna |
OMIM:301054 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Skeletal muscle atrophy, Thin upper lip vermilion, Anteverted nares, Microcep... |
OMIM:103050 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hydrocephalus, Coloboma, Hypogonadism, Delayed puberty, Microphtha... |
ORPHA:141333 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Coffin-Siris Syndrome |
|
Papillary thyroid carcinoma, Thick nasal alae, Agenesis of corpus callosum, Dandy-Walker malforma... |
ORPHA:1465 |
Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnormal pons morphology, Abn... |
ORPHA:79139 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, White forelock, Visual impairment |
ORPHA:742 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent ... |
ORPHA:1307 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Decreased distal sensory nerve action po... |
ORPHA:99956 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma |
ORPHA:2260 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Nongranulomatous uveitis, Choroidal neovascular... |
ORPHA:91500 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Ectopia lentis, Lens luxation, Hypertelorism, Microcephaly, Macrocephaly, Axonal loss, Thick verm... |
OMIM:252150 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Midface retrusion |
OMIM:618737 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrocephaly, Malar flattening, Short nose |
ORPHA:2835 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Chorior... |
ORPHA:959 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Flexion contracture, B... |
ORPHA:666 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Relative macrocephaly, Depressed nasal bridge, Anteverted nares, Rhizomeli... |
OMIM:271510 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thenar muscle atrophy, Flexion contracture, Blue sclerae, Proptosis, Short femoral neck, Downslan... |
ORPHA:157965 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Bardet-Biedl Syndrome 1 |
|
Myopia, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Aganglionic megacol... |
OMIM:209900 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ... |
OMIM:619950 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Microcephaly, Hi... |
ORPHA:3201 |
Saethre-Chotzen Syndrome |
|
Absent first metatarsal, Ptosis, Abnormal nasolacrimal system morphology, Hypertelorism, Long nos... |
OMIM:101400 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Cataract, Depressed nasal bridge, Anteverted nares, Protruding tongue, Gingival overgrowth, Wide ... |
OMIM:618797 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har... |
ORPHA:261552 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal pinna morphology, Aplasia/Hypoplasia of the ce... |
ORPHA:75389 |
Arima Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... |
OMIM:243910 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ... |
ORPHA:309256 |
Fibular Hemimelia |
|
Anophthalmia, Short femur, Spina bifida, Short toe, Fibular hypoplasia, Proximal femoral focal de... |
ORPHA:93323 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Cataract, Corneal opacity, Sclerocornea, Microcephaly, Hypopla... |
ORPHA:2557 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital diaphragmatic hernia, High, narrow palate, Agenesis of corpus c... |
ORPHA:373 |
Apert Syndrome |
|
Mandibular prognathia, Frontal bossing, Delayed eruption of teeth, Cloverleaf skull, Hypoplasia o... |
ORPHA:87 |
Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Epicanthus, Micrognathia, Hypertelorism, Hiatus hernia, Narrow mouth, Microce... |
OMIM:617729 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, Microcornea... |
OMIM:309800 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Hypertelorism, Bilateral cryptorchidis... |
OMIM:619859 |
Mend Syndrome |
|
Microretrognathia, Smooth philtrum, Cataract, Posteriorly rotated ears, Prominent nasal bridge, M... |
OMIM:300960 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Hydr... |
OMIM:101800 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotroph... |
ORPHA:496689 |
Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, High, narrow palate, Short metatarsal, Widely spaced teeth, Sparse medial... |
OMIM:601358 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, Median cleft lip, Hypertelorism, High palate, Iris coloboma, Downslanted palpebr... |
OMIM:155145 |
Distal Deletion 12Q |
|
Micrognathia, High, narrow palate, Anteverted nares, Wide anterior fontanel, Supernumerary tooth,... |
ORPHA:96149 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Cleft palate, Umbilical hernia, Stillbirth, Short ribs, Macrocephaly, Limb ... |
OMIM:269250 |
Familial Dysautonomia |
|
Myopia, Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Opt... |
ORPHA:1764 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Microgn... |
OMIM:154400 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Osteogenesis Imperfecta, Type Iii |
|
Micrognathia, Wide anterior fontanel, Blue sclerae, Dentinogenesis imperfecta, Hearing impairment |
OMIM:259420 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi... |
OMIM:619005 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Protruding ear, High palate, Bifid uvula, Fe... |
OMIM:620330 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, H... |
OMIM:601803 |
Sheehan Syndrome |
|
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... |
ORPHA:91355 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Cataract, Sensorineural hearing impairment, Optic atrophy, Atrophy/Degenerati... |
ORPHA:314404 |
Atelosteogenesis, Type Iii |
|
Frontal bossing, Micrognathia, Hypoplasia of the maxilla, Prominent occiput, Malar flattening, Mi... |
OMIM:108721 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Epicanthus, Telecanthus, Hydrocephalus, Flexion contracture,... |
ORPHA:505248 |
Macrocephaly/Autism Syndrome |
|
Epicanthus, Depressed nasal bridge, Hydrocele testis, High palate, Biparietal narrowing, Long phi... |
OMIM:605309 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Unilateral cryptorchidism, Agangli... |
OMIM:174300 |
Ring Chromosome 22 Syndrome |
|
Epicanthus, Protruding tongue, Microcephaly, Bulbous nose, Neurofibroma, Thick vermilion border, ... |
ORPHA:1446 |
Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials, Optic disc pallor |
ORPHA:314389 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Underdeveloped nasal alae, Abnormality of the dentition, Sensorineural he... |
ORPHA:3241 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Blue sclerae, Ventriculomegaly, Microcephaly |
OMIM:617051 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:2720 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, 11 pairs of ribs, Palpebral edema, Micromelia, Abnormal circulating calcium-p... |
ORPHA:50810 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Deeply set eye, Peters ano... |
OMIM:614526 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Choanal atresia, Cleft soft palate, Micrognathia, Lacrimal duct stenosis,... |
OMIM:154500 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Hypertelorism, Trismus, Crypt... |
OMIM:227330 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Prominent nose, High, narrow palate, Pineal cyst, Short philtrum, Widely spaced ... |
OMIM:300967 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Thin upper lip vermilion, Anteverted nares, Supernumerary nipple, Highly arched eyebrow, Cryptorc... |
OMIM:616728 |
Rodrigues Blindness |
|
Narrow nasal bridge, Sclerocornea, Protruding ear, Microcornea, Microphthalmia, Tooth malposition |
OMIM:268320 |
Maternal Phenylketonuria |
|
Epicanthus, Anteverted nares, Micrognathia, Microcephaly, Esophageal atresia, Bilateral ptosis, W... |
ORPHA:2209 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ... |
ORPHA:309263 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Micrognathia, Short ribs, Malar flattening, Short nose |
OMIM:614524 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Scapular winging, Cataract, Anteverted nares, Mixed hearing ... |
OMIM:272460 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Microcephaly, Cryptorchidism, Hydrocephalus, Flexion contracture, Small ha... |
ORPHA:500055 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har... |
ORPHA:261537 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Secondary microcephaly, Primary microcephaly |
ORPHA:289266 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion... |
OMIM:619854 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Depressed nasal bridge, Abnormal midbrain morphology, Anteverted nares, Decreased response to gro... |
ORPHA:293987 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy, Proximal amyotrophy, Distal amyotrophy, Weakness of facial musculature, Ptosis |
OMIM:254300 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Hypertelorism, Abnormalit... |
ORPHA:2752 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Ptosis, Peripheral axonal neuropathy, Epicanthus, Depressed nasal bridge, Cryptorchidism, Sensori... |
OMIM:300661 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Corneal astigmatism, Abnormal lacrimal sac morphology, Ectropi... |
ORPHA:141083 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, ... |
ORPHA:261330 |
Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Micrognathia, Short distal phalanx of the ... |
OMIM:180860 |
Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration |
OMIM:613550 |
Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Relative macrocephaly, Decreased muscle mass, Dental crowding,... |
ORPHA:813 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Depressed nasal bridge, Anteverted nares, Micrognathia, Long nose, Open mouth, ... |
ORPHA:508533 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tented upper lip vermilion, Depressed nasal bridge, Short metacarpal, Ep... |
ORPHA:457395 |
Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Malar flattening, Coronal craniosynostosis, Micrognathia |
OMIM:241310 |
Cat Eye Syndrome |
|
Anal stenosis, Epicanthus, Intestinal malrotation, Hypertelorism, Micrognathia, Rectal fistula, A... |
OMIM:115470 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Microcephaly, Cryptorchidism, Meningocele, Macrocephaly, Umbilical hernia, Spina bifida occulta |
ORPHA:2311 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Protruding ear, Thin vermilion border, Blue sclerae, Long eyelashes, Lon... |
OMIM:614856 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Premature graying of hair, High... |
ORPHA:769 |
Costello Syndrome |
|
Micrognathia, Chiari type I malformation, High palate, Anteverted nares, Depressed nasal bridge, ... |
OMIM:218040 |
Cowden Syndrome 1 |
|
Colonic diverticula, Cataract, Hyperthyroidism, Dysplastic gangliocytoma of the cerebellum, Heari... |
OMIM:158350 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Hypertelorism, Micrognathia, Absent earlobe, Flexion contracture, Wide nasal bridge, Cleft palate... |
OMIM:130070 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Lip discoloration, Blue sclerae, Microcephaly |
ORPHA:621 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Bardet-Biedl Syndrome |
|
Pigmentary retinopathy |
ORPHA:110 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
1P21.3 Microdeletion Syndrome |
|
Micrognathia, Broad nasal tip, Wide mouth, Deeply set eye, Upslanted palpebral fissure, Astigmati... |
ORPHA:293948 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Micrognathia, High, narrow palate, Congenital contractu... |
OMIM:208150 |
Opsismodysplasia |
|
Short palm, Short metacarpal, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears,... |
OMIM:258480 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Shallow orbits, Short nose, Downslanted palpebral fissures, Micrognathia |
ORPHA:1129 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Bilateral microphthalmos, Hypermetropia, Developmental cataract, Retinal calcification |
ORPHA:93325 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Pierre-Robin sequence, Cleft palate, Glossoptosis, Retrognathia, Hypoplastic ... |
OMIM:620269 |
Cowden Syndrome 5 |
|
Colonic diverticula, Cataract, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of t... |
OMIM:615108 |
Giant Axonal Neuropathy |
|
Facial palsy, Abnormal cerebellum morphology, Abnormal pituitary gland morphology, Diffuse axonal... |
ORPHA:643 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... |
ORPHA:1969 |
Tetraamelia Syndrome 1 |
|
Cataract, Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Cleft upper lip, Hydroc... |
OMIM:273395 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Hypertelorism, Hiatus hernia, Abnormal zygomatic bone morphology, Pyloric stenosis, ... |
ORPHA:3342 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Wide nose, Ptosis, Dental crowding, Hearing impairment, Hypertelorism, ... |
OMIM:616078 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Hypoplasia... |
ORPHA:370997 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Hypoplasia of the maxilla, Brachycephaly, Micrognathia |
ORPHA:776 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Anal stenosis, Sinusitis, Epicanthus, Choanal atresia, Rhabdomyosarc... |
OMIM:251260 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Highly arched eyebrow, Hypertelorism, Mic... |
OMIM:617062 |
Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Abnormal retinal morphology, Micrognathia, Persistence of primary teeth, Abnorma... |
ORPHA:2785 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93924 |
Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum, Blue sclerae, Small hand, Abnormality of the dentition |
ORPHA:2101 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har... |
ORPHA:2152 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Depressed nasal ridge, Knee flexion contracture, High palate, Short pal... |
OMIM:271665 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Micromelia, Cleft maxillary alveolar ridge, Deeply s... |
ORPHA:508488 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Short palm,... |
OMIM:312870 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... |
ORPHA:206436 |
Cowden Syndrome 6 |
|
Colonic diverticula, Cataract, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of t... |
OMIM:615109 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Chiari type I malformation, Coloboma, High palate, Otitis media, C... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Chiari type I malformation, Coloboma, High palate, Otitis media, C... |
ORPHA:353277 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
C Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Micromelia, High palate, Biparietal narrowing, Abn... |
ORPHA:1308 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Lower eyelid coloboma, Cleft palate, Fusion of ... |
OMIM:613717 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge, Hypertelorism |
OMIM:612563 |
Opsismodysplasia |
|
Depressed nasal bridge, Hypoplastic vertebral bodies, Blue sclerae, Macrocephaly, Short nose |
ORPHA:2746 |
Congenital Fibrosis Of Extraocular Muscles |
|
Abnormal visual field test, Cataract, Optic nerve hypoplasia, Amblyopia, Anisocoria, Abnormal bes... |
ORPHA:45358 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Optic atrophy |
ORPHA:436271 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Ptosis, Anteverted nares, Cleft soft palate, Highly arched eyebrow, Micrognathia, Hypertelorism, ... |
ORPHA:2282 |
Aceruloplasminemia |
|
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:48818 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Myopia, Cataract, Corneal opacity, Generalized hyperpigmenta... |
ORPHA:636 |
Fanconi Anemia, Complementation Group J |
|
Multiple cafe-au-lait spots, Microphthalmia |
OMIM:609054 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Cataract, Miscarriage, Small hand, ... |
ORPHA:902 |
Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Abnormality of the dentition, Corneal erosion, Sensorineur... |
ORPHA:90354 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Long philtrum, Malar ... |
ORPHA:166100 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Blue sclerae, Conductive hearing impairment, Anteverted nares, H... |
OMIM:157800 |
Craniofacial-Deafness-Hand Syndrome |
|
Telecanthus, Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Sensorineural hear... |
OMIM:122880 |
Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Skeletal muscle atrophy, Tongue atrophy, Retinal dystrophy, Flexion contractu... |
OMIM:614678 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Cataract, Depressed nasal bridge, Micrognathia, Blepharophimosis, Cryptorchidis... |
OMIM:620005 |
Okamoto Syndrome |
|
Tented upper lip vermilion, Abnormally large globe, Downturned corners of mouth, Exaggerated medi... |
ORPHA:2729 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla |
OMIM:246560 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Ptosis, Blepharophimosis, Microcephaly, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Microt... |
ORPHA:2728 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Frontal bossing, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, C... |
ORPHA:466791 |
Primary Ciliary Dyskinesia |
|
Nasal polyposis, Intestinal malrotation, Hydrocephalus, Nasal congestion, Recurrent otitis media,... |
ORPHA:244 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Hypoplastic scapulae, Aplasia/Hypoplas... |
ORPHA:958 |
Catel-Manzke Syndrome |
|
Micrognathia, Glossoptosis, High palate, Bifid uvula, Short metacarpal, Hypertelorism, Cleft uppe... |
OMIM:616145 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Generalized hyperpigmentation, Cataract, Malabsorption, Hypogeusia, Furrowe... |
ORPHA:2930 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Ptosis, Facial palsy, Hearing impai... |
OMIM:211530 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Central retinal vessel vascular tortuosity, Protruding ear, High palate, Conductive... |
ORPHA:2751 |
Proteus Syndrome |
|
Central heterochromia, Decreased muscle mass, Neoplasm of the thymus, Abnormality of skin pigment... |
ORPHA:744 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Chorioretinal coloboma, Hypothyroidism, Cryptorchidism, Micr... |
OMIM:107480 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy |
OMIM:609015 |
Laron Syndrome |
|
Delayed menarche, Decreased serum insulin-like growth factor 1, Blue sclerae, Limb undergrowth |
OMIM:262500 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Protruding tongue, Bulbous... |
ORPHA:324410 |
Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Almond-shaped palpebral fissure, Optic atrophy, Gingival overgrowth, Colpoceph... |
OMIM:620352 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Blindness, Scotoma, Nyctalopia, Keratoconjunctivitis sicca, ... |
ORPHA:14 |
Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis, Aplasia/Hypoplasia of the middle phalanges of th... |
OMIM:185800 |
Orofaciodigital Syndrome Iii |
|
Hypertelorism, Supernumerary tooth, Bulbous nose, Bifid tongue, Short sternum, Low-set ears, Micr... |
OMIM:258850 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Osteogenesis Imperfecta, Type Xix |
|
Blue sclerae, Rhizomelia, Dentinogenesis imperfecta, Hearing impairment |
OMIM:301014 |
Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Short toe, Wide nas... |
ORPHA:1519 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Cryptorchidism, Hydrocephalus, Hypoplasia of the maxilla |
OMIM:601499 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Absent frontal sinuses, Absent outer dynein arms, A... |
OMIM:244400 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Curry-Jones Syndrome |
|
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intestinal malrotation, Lip ... |
OMIM:601707 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
Angelman Syndrome |
|
Mandibular prognathia, Optic disc pallor, Keratoconus, Ptosis, Precocious puberty in females, Pro... |
ORPHA:72 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Retinal detachment, Corneal opacity, Prominent nasal bridge, Ankle flexion con... |
ORPHA:464311 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta |
OMIM:601216 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract |
OMIM:618805 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Ventriculomegaly, Microcephaly |
OMIM:308350 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Micrognathia, Underdeveloped nasal alae, Prominent nose, Supernumerary tooth,... |
ORPHA:90024 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Aplasia/Hypoplasia of the clavicles, Micrognathia, Abnormality of the dentition, Narr... |
ORPHA:90154 |
Restrictive Dermopathy 1 |
|
Adrenal hypoplasia, Micrognathia, Flexion contracture, Neonatal death, Depressed nasal bridge, Na... |
OMIM:275210 |
Ramon Syndrome |
|
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Microdontia, Periorbit... |
OMIM:305100 |
Peroxisome Biogenesis Disorder 4B |
|
Retinal dystrophy, Hypertelorism, Decreased nerve conduction velocity, Sensorineural hearing impa... |
OMIM:614863 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Blue sclerae, Umbilical hernia, Decreased c... |
OMIM:614170 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Anophthalmia, Intestinal malrotation, Aplastic clavicle, Hiatus ... |
ORPHA:2538 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:220110 |
Achard Syndrome |
|
Broad skull, Brachycephaly, Micrognathia |
OMIM:100700 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Leukodystrophy, Hypomyelinating, 25 |
|
Blue sclerae, Microcephaly |
OMIM:620243 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Microme... |
OMIM:200600 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida, Macrocephaly |
ORPHA:3219 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose, Small hand |
OMIM:618618 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... |
OMIM:309580 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Retinal detachment, Epicanthus, Depressed nasal bridge, Dental crowding, Microcornea... |
OMIM:225400 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:397973 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Scapular wingi... |
ORPHA:101085 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal putamen morphology, Abnormal brainstem MRI signal intensity, Abnormal brainstem morpholo... |
ORPHA:88619 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Cryptorchidism, Abnormal tongue morphology, Downturned corners of mouth, Long p... |
ORPHA:531151 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Xerostomia, Downturned corners of mouth, Chorioretinal hypopigmentation, Premature adrenarche, Hy... |
ORPHA:398079 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Deeply set eye, Blue sclerae, High palate, ... |
OMIM:619472 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Hyperteloris... |
ORPHA:2919 |
Phocomelia, Schinzel Type |
|
Micromelia, Micrognathia, Aplasia of the ulna, Cryptorchidism, High, narrow palate, Meningocele, ... |
ORPHA:2879 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla |
OMIM:156510 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Chiari type II malformation, Myelomeningocele, Spina bifida occulta, Hydrocephalus |
OMIM:613686 |
Myopathy, Tubular Aggregate, 1 |
|
Nyctalopia, Abnormal pupil morphology |
OMIM:160565 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy |
OMIM:617675 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Optic atrophy, Narrow palate, Hyperplasia of t... |
ORPHA:313892 |
Omodysplasia 1 |
|
Short humerus, Epicanthus, Depressed nasal bridge, Rhizomelia, Micrognathia, Cryptorchidism, Shor... |
OMIM:258315 |
Osteogenesis Imperfecta, Type Ix |
|
Blue sclerae, Short lower limbs, Dentinogenesis imperfecta |
OMIM:259440 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea, Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Hyperpigmented strea... |
OMIM:300952 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93945 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Hydrocephalus, Optic atrophy, Cleft palate, Polycystic ovaries, Microphthalmia, ... |
ORPHA:137675 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Amenorrhea, Infertility, Erectile dysfunction, ... |
ORPHA:465508 |
Trichinellosis |
|
Facial palsy, Diplopia, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Abnorma... |
ORPHA:863 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Cryptorchidism, Decreased testicular size |
ORPHA:85279 |
Carpenter Syndrome 1 |
|
Sagittal craniosynostosis, Micrognathia, Precocious puberty, Cryptorchidism, Hypoplasia of the ma... |
OMIM:201000 |
Osteogenesis Imperfecta, Type V |
|
Blue sclerae, Dentinogenesis imperfecta |
OMIM:610967 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Nasal polyposis, Chronic sinusitis, Ectopia lentis |
OMIM:604571 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Hypertelorism, Splenop... |
OMIM:269150 |
Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Epicanthus, Anteverted nares, Posteriorly rotated ears, Hypertelorism, ... |
OMIM:609942 |
Osteogenesis Imperfecta, Type Ii |
|
Limb undergrowth, Blue sclerae, Convex nasal ridge |
OMIM:166210 |
Fibromuscular Dysplasia, Multifocal |
|
Dental crowding, Micrognathia, Hiatus hernia, Deeply set eye, Blue sclerae, High palate, Malar fl... |
OMIM:619329 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... |
ORPHA:98755 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ... |
ORPHA:309271 |
Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Choanal atresia, Hearing impairment, M... |
ORPHA:98889 |
Infantile Nephropathic Cystinosis |
|
Photophobia, Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals |
ORPHA:411629 |
Orofaciodigital Syndrome Iv |
|
Epicanthus, Hamartoma of tongue, Hypertelorism, Micrognathia, Accessory oral frenulum, Cleft pala... |
OMIM:258860 |
Lipoid Proteinosis |
|
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... |
ORPHA:530 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Gingival overgrowth, Umbilical herni... |
ORPHA:93399 |
20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
ORPHA:261295 |
Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Abnormal pupil morphology, Abnormality of the gingiva, Gingivitis, Protrudin... |
ORPHA:286 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:300676 |
Grant Syndrome |
|
Blue sclerae, Micrognathia |
OMIM:138930 |
Osteogenesis Imperfecta, Type X |
|
Relative macrocephaly, Short femur, Rhizomelia, Micromelia, Micrognathia, Pyloric stenosis, Death... |
OMIM:613848 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Decreased serum insulin-like growth factor 1, Congenital diaphragmatic ... |
ORPHA:1596 |
Osteogenesis Imperfecta, Type Xv |
|
Hypoplasia of the pons, Blue sclerae, Cerebellar hypoplasia |
OMIM:615220 |
Bazex-Dupre-Christol Syndrome |
|
Narrow nasal ridge, Underdeveloped nasal alae, Furrowed tongue, Hyperpigmentation of the skin, Lo... |
OMIM:301845 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Elevated circulating luteinizing hormone level, Hypoplasia of the maxilla,... |
ORPHA:3044 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Midface retrusion |
OMIM:619142 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Hypertelorism, Short nose, Micrognathia |
OMIM:266810 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased number of peripheral mye... |
ORPHA:99949 |
Fanconi Anemia, Complementation Group R |
|
Absent thumb, Microcephaly, Hydrocephalus, Agenesis of permanent teeth, Chiari type I malformatio... |
OMIM:617244 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Hypertelorism, Absent thumb, Cryptorchidism, Hydrocephalus, Esoph... |
OMIM:227646 |
Adams-Oliver Syndrome |
|
Encephalocele, Cataract, Hydrocephalus, Absent toe, Esophageal varix, Absent hand, Microphthalmia... |
ORPHA:974 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:79279 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Wide mouth, Dee... |
OMIM:105830 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Biparietal narrowing |
ORPHA:228396 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Camptodactyly of finger, Micromelia, Furrowed tongue |
ORPHA:2928 |
Chromosome 17P13.1 Deletion Syndrome |
|
Diffuse cerebral atrophy, Spina bifida, Microcephaly, Hydrocephalus, Hydrocele testis, Umbilical ... |
OMIM:613776 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Cataract, Depressed nasal bridge, Band keratopathy, Long nose, Hypertelor... |
OMIM:118450 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:166300 |
Hypophosphatasia, Infantile |
|
Death in infancy, Micromelia, Abnormality of the dentition, Stillbirth, Blue sclerae, Short ribs,... |
OMIM:241500 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerve conduction velocit... |
ORPHA:167 |
Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Micrognathia, Rhabdomyolysis, Pierre-Robin sequence... |
OMIM:614921 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Flexion contracture, Xerostomia, Downturned corners of mouth, Chorioretinal hypopigmentation, Hyp... |
ORPHA:398069 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy, Axonal degeneration, Upper limb muscle weakness, Lower limb muscle weakness, Foot... |
OMIM:616155 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... |
OMIM:614557 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Vis... |
ORPHA:79282 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Calcinosis, Cataract, Depressed nasal bridge, Decreased response to gr... |
ORPHA:94089 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Reduced visual acuity, Visual impairment |
OMIM:277400 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy |
ORPHA:746 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Calcinosis, Short metacarpal, Cataract, Depressed nasal bridge, Decrea... |
ORPHA:79444 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Cessation of head growth, Mil... |
ORPHA:411511 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Broad nasal tip, Protruding ton... |
OMIM:619777 |
Williams-Beuren Syndrome |
|
Rectal prolapse, Flexion contracture, Hypotelorism, Chiari type I malformation, Premature graying... |
OMIM:194050 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Blue sclerae, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166220 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Long nose, Downturned corners of mouth, High palate, Small earlobe, Anteverted nares, Hypertelori... |
OMIM:619522 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Holoprosence... |
ORPHA:83463 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Fac... |
OMIM:617114 |
17Q12 Microduplication Syndrome |
|
Synophrys, Tracheoesophageal fistula, Cleft palate, Deeply set eye, Microphthalmia |
ORPHA:261272 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, High palate, Shallow orbits, Conductive he... |
ORPHA:740 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Maternal diabetes, Hypertelorism, Carious teeth, Micrognathia, Glossoptosis, Aplasia/hypoplasia i... |
ORPHA:93346 |
Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Epicanthus, Depressed nasal bridge, Olivopontocerebellar hypoplasia, Mic... |
ORPHA:284339 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Cryptorchidism, Anterior pituitary hypoplasia, Breast hypoplasia |
ORPHA:464306 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... |
ORPHA:199306 |
Lateral Meningocele Syndrome |
|
Chiari type I malformation, Umbilical hernia, Hydrocephalus, Meningocele |
OMIM:130720 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, High myopia, Shallow anterior chamber, Posterior synechiae of the a... |
OMIM:613195 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Short palm, Agenesis of corpus callosum, Dandy-Walker malformation, Lon... |
ORPHA:93271 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Cessation of head growth, Wid... |
ORPHA:98795 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
ORPHA:71212 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Blue sclerae, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166200 |
Giant Cell Arteritis |
|
Ptosis, Diabetes insipidus, Epistaxis, Recurrent pharyngitis, Vertigo, Optic atrophy, Conductive ... |
ORPHA:397 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Hypoplastic vertebral bodies, Short distal phalanx of finger, Semilobar holoprosencephaly |
OMIM:601370 |
Agel Amyloidosis |
|
Tongue atrophy, Cataract, Facial palsy, Bilateral ptosis, Xerostomia, Keratoconjunctivitis sicca,... |
ORPHA:85448 |
Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma |
OMIM:180200 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Cataract, Scapular winging, Intestinal pse... |
OMIM:607459 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Micrognathia, Short thumb, Hypoplasia of the radius, Fibular hypoplasia, ... |
OMIM:227270 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Chiari malformation |
ORPHA:2789 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Hypoplasia of the maxilla, Carious teeth, Brachycephaly, Hypop... |
ORPHA:1798 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Photophobia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Cor... |
OMIM:278730 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Epicanthus, Pancreatic fibrosis, Abnormal pinna morphology, Micromelia, Hypert... |
OMIM:200995 |
Dend Syndrome |
|
Anteverted nares, Bilateral ptosis, Thickened ears, Downturned corners of mouth, Long philtrum, S... |
ORPHA:79134 |
Cleft Lip And Alveolus |
|
Lip pit, Abnormal nasal morphology, Abnormality of masticatory muscle, Hypodontia, Abnormal nasal... |
ORPHA:141291 |
Revesz Syndrome |
|
Exudative retinopathy, Megalocornea, Fine, reticulate skin pigmentation, Leukocoria |
OMIM:268130 |
Linear Nevus Sebaceus Syndrome |
|
Telecanthus, Melanocytic nevus, Adenoma sebaceum, Biparietal narrowing, Aplasia/Hypoplasia of the... |
ORPHA:2612 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Malabsorption, Sensorineural hearing impairment, Hypopigmented skin patches, Glossopto... |
ORPHA:47 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Thin upper lip vermilion, Short fourth metatarsal, Short humerus, Abnorma... |
OMIM:134780 |
Miller Fisher Syndrome |
|
Facial palsy, Mydriasis, Diplopia, Photophobia, Anisocoria, Blurred vision |
ORPHA:98919 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Micrognathia, Cleft upper lip, Cleft palate, Distichiasis, Conjunctivitis, Recurrent c... |
OMIM:153400 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Micromelia, Micrognathia, Sensorineural hearing im... |
ORPHA:440354 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Malar flattening, Prominence of the premaxilla |
ORPHA:2412 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Rhizomelia, Tooth agenesis, Blue sclerae, Mesomelia, Conductive hearing impair... |
OMIM:616229 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Cessation of head growth, Mil... |
ORPHA:98794 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Microcephaly |
OMIM:619725 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Leiomyosarcoma, Posterior helix pit, Hypo... |
ORPHA:116 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Short metacarpal, Ectopia lentis, Micrognathia, Flexion contracture, Cleft pala... |
OMIM:271640 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy, Hypermetropia |
OMIM:612868 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Keratitis, Retinal hemorrhage, Uveitis, Oral ulcer, Concave nasal ridge, Conjunctiviti... |
OMIM:608710 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Developmental cataract, Gingival bleeding, Left ventricular hypertrophy... |
ORPHA:335 |
Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Hypoplasia of the t... |
OMIM:617666 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Sensorineural hearing impairment, Lateral ventricle dilatation, Blue ... |
ORPHA:488627 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Cleft upper lip, Cleft palate, Microphthalmia, Agenesis of corpus callosum |
OMIM:614402 |
Wilson Disease |
|
Hypoparathyroidism, Decreased nerve conduction velocity, Esophageal varix, Face of the giant pand... |
OMIM:277900 |
Loeys-Dietz Syndrome 1 |
|
Eosinophilic infiltration of the esophagus, Micrognathia, Hypertelorism, Hydrocephalus, Cleft pal... |
OMIM:609192 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Fasting hyperinsulinemia, Premature graying of hair, Short... |
ORPHA:79474 |
Spondyloepiphyseal Dysplasia Congenita |
|
Retinal detachment, Short femur, Hypertelorism, Micrognathia, Upper limb undergrowth, Cleft palat... |
ORPHA:94068 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Perioral hyperpigmentation, Absent lower eyelashes, Furrowe... |
ORPHA:140936 |
Melas |
|
Peripheral axonal neuropathy, Visual loss, Optic atrophy, Pigmentary retinopathy, Vitiligo |
ORPHA:550 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Facial hypotonia, Limb joint cont... |
ORPHA:404454 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Alveolar bone loss around teeth, Hiatus hernia, Pretibial hyperpigmentation, Intestinal perforati... |
OMIM:130080 |
Lumbar Syndrome |
|
Cryptorchidism, Myelomeningocele, Spina bifida |
ORPHA:83628 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Amblyopia, Ectopia pupillae, Visual impairment |
ORPHA:1885 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Craniosynostosis, Micrognathia, Hypoplasia of the m... |
ORPHA:2462 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/rem... |
ORPHA:255210 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Abnormality of the temporomandibular joint, Absent muscle fiber merosin, Facial palsy, ... |
ORPHA:258 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontal bossing, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Lateral ventr... |
OMIM:619534 |
Geleophysic Dysplasia 1 |
|
Short palm, Anteverted nares, Camptodactyly of finger, Wide mouth, Short metacarpals with rounded... |
OMIM:231050 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Corneal dystrophy, Reduced visual acuity, Ectopia pupillae, Corneal guttata |
OMIM:609141 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Microcephaly, Meningocele, Abnormal testis morphology |
ORPHA:991 |
Cystinosis, Nephropathic |
|
Hypopigmentation of the skin, Blindness, Hypopigmentation of hair, Retinal pigment epithelial mot... |
OMIM:219800 |
Aarskog-Scott Syndrome |
|
Hypoplasia of the maxilla, Cryptorchidism, Delayed eruption of teeth |
ORPHA:915 |
Keipert Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2662 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Absent outer dynein arms, Nasal congestion, Recurrent otitis media, Chronic sinu... |
OMIM:616037 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Epicanthus, Progressive flexion contractures, Abnormal location of the ... |
ORPHA:522077 |
Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment, Rod-cone dystrophy, Hypoplasia of... |
OMIM:606943 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Sensorineural hearing impairment, Elbow ... |
OMIM:148210 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic h... |
OMIM:620285 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Ovarian neopla... |
ORPHA:2221 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Retrognathia, Aplastic zygomatic arch, Midface retrusion |
OMIM:616462 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Tongue atrophy, Ptosis, Vertigo, Loss of Purkinje cells in the cerebella... |
ORPHA:276198 |
Ciliary Dyskinesia, Primary, 35 |
|
Chronic otitis media, Nasal polyposis, Chronic sinusitis, Chronic rhinitis |
OMIM:617092 |
8Q22.1 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Cryptorchidism, Hypogonadism, Craniosynostosis |
ORPHA:178303 |
Ciliary Dyskinesia, Primary, 2 |
|
Sinusitis, Nasal polyposis, Absent inner and outer dynein arms, Otitis media, Hearing impairment |
OMIM:606763 |
Immunodeficiency 13 |
|
Recurrent otitis media, Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract i... |
OMIM:615518 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida, Macrocephaly |
OMIM:162200 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Nasal polypos... |
OMIM:613808 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Cataract, Hypoplasia of the nasal bone, Knee flexion contracture |
OMIM:118650 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
High, narrow palate, Retinal hemorrhage, Angioid streaks of the fundus, Macular degeneration, Blu... |
OMIM:177850 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Blue sclerae, Rhizomelia, Short 5th metacarpal, Short 4th metacarpal |
OMIM:619638 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Neoplasm of the nose, Nasal polyposis, Intestinal obstruction, Abnorma... |
ORPHA:2869 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Cataract, Narrow nasal ridge, Developmental cataract, Pigmentary retinop... |
OMIM:606721 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Tongue atrophy, Ptosis, Tongue fasciculations, Heari... |
OMIM:614153 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Hyperpigmentation of the skin |
OMIM:234200 |
Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Recurrent oti... |
OMIM:614935 |
Hereditary Acrokeratotic Poikiloderma |
|
Ectropion, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the dentition... |
ORPHA:2907 |
Hypoglossia With Situs Inversus |
|
Micrognathia, High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia |
OMIM:612776 |
Alkaptonuria |
|
Abnormality of the nose, Cartilage destruction, Hearing abnormality, Abnormality of skin pigmenta... |
ORPHA:56 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Frontal bossing, Micrognathia, Hypoplasia of the maxilla, Macroorchidism, Agenesis of corpus call... |
OMIM:309520 |
Cutis Marmorata Telangiectatica Congenita |
|
Multiple cafe-au-lait spots, Retinal detachment, Leukocoria |
ORPHA:1556 |
Cerebrocostomandibular Syndrome |
|
Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Conductive hearing impairment, 1... |
OMIM:117650 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Recurrent oti... |
OMIM:615444 |
Cleidocranial Dysplasia 2 |
|
Plagiocephaly, Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Hypertelorism, Micrognathia, Bilateral cleft lip and palate, Upslanted pa... |
ORPHA:2001 |
Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Facial palsy, Hearing abnormality, Schwannoma, Vertigo, Pe... |
ORPHA:252164 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Hypertelorism, Carious teeth, Malabsorption, Abnormality of the dentition,... |
ORPHA:93 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent otitis media, Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:608647 |
Osteogenesis Imperfecta, Type Xiv |
|
Sensorineural hearing impairment, Blue sclerae |
OMIM:615066 |
Kagami-Ogata Syndrome |
|
Hypoplasia of the maxilla, Frontal bossing, Retrognathia, Micrognathia |
OMIM:608149 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nasal septum perforation, Skeletal muscle atrophy, Myositis |
OMIM:615934 |
Hereditary Mucoepithelial Dysplasia |
|
Cataract, Corneal dystrophy, Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue |
ORPHA:1839 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hyperthyroidism, Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, ... |
OMIM:170390 |
Loeys-Dietz Syndrome 2 |
|
Eosinophilic infiltration of the esophagus, Micrognathia, Hypertelorism, Hydrocephalus, Cleft pal... |
OMIM:610168 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Hydrocephalus, Blue sclerae, Hearing impairment |
OMIM:619377 |
Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Angioid streaks of the fundus, Blue sclerae, High palate, Retinopathy, Hypoth... |
ORPHA:758 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Bilateral cleft lip, Hypertelorism, Micrognathia, Cleft palate,... |
OMIM:618021 |
Solar Urticaria |
|
Vertigo, Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Absent thumb, Microcephaly, Cryptorchidism... |
OMIM:603467 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Cleft palate, Joint contracture, Blue sclerae, Proptosis, Long upper lip |
OMIM:615349 |
Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Rhizomelia, Micromelia, Wide anterior fontanel, Hearing abnormality, Blue scler... |
OMIM:610682 |
Phakomatosis Pigmentokeratotica |
|
Cryptorchidism, Spina bifida |
ORPHA:2874 |
Ciliary Dyskinesia, Primary, 42 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:618695 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Short thumb, Hypoplasia of the radius, Fibular hypopla... |
ORPHA:1972 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Axillary apocrine gland hypoplasia, H... |
OMIM:181450 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
Phakomatosis Pigmentovascularis |
|
Generalized hyperpigmentation, Blue sclerae, Hypopigmented skin patches |
ORPHA:2875 |
Osteogenesis Imperfecta, Type Xi |
|
Blue sclerae, Dentinogenesis imperfecta, Hearing impairment |
OMIM:610968 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Malabsorption, Abnormal eyelid morphology, Corneal erosion, Abnormal... |
ORPHA:37 |
Cleft Velum |
|
Hypoplasia of the maxilla |
ORPHA:99772 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Paraganglioma of head and neck, Aganglionic megacolon, Prominent corne... |
ORPHA:653 |
Cowden Syndrome |
|
Cataract, Follicular thyroid carcinoma, Hearing impairment, Enlarged polycystic ovaries, Abnormal... |
ORPHA:201 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Hypoplastic vertebral bodies, Narrow mouth... |
OMIM:230600 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis, Short distal phalanx of finger |
OMIM:277450 |
Familial Cerebral Saccular Aneurysm |
|
Encephalomalacia, Abnormal brainstem morphology |
ORPHA:231160 |
Chand Syndrome |
|
Short fifth metatarsal, Depressed nasal bridge, Hypertelorism, Cleft palate, Agenesis of permanen... |
ORPHA:1401 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla, Agenesis of corpus callosum |
ORPHA:481152 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Recurrent sinusitis |
OMIM:620197 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Geleophysic Dysplasia 2 |
|
Short palm, Thin upper lip vermilion, Hypertelorism, Short foot, Long philtrum, Short nose, Smoot... |
OMIM:614185 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Corneal opacity, Hyperpigmentation of the skin, Oral mucosal bliste... |
ORPHA:79396 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teet... |
ORPHA:37553 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
Meier-Gorlin Syndrome 4 |
|
Hypoplasia of the maxilla, Cryptorchidism, Breast hypoplasia, Micrognathia |
OMIM:613804 |
Down Syndrome |
|
Epicanthus, Aganglionic megacolon, Protruding tongue, Brushfield spots, Short middle phalanx of t... |
OMIM:190685 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Nasal polyposis, Intestinal obstruction, Malabsorption, Hypopigmented skin p... |
ORPHA:183 |
Nager Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:245 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Frontal bossing, Hypoplasia of the maxilla, Carious teeth, Hypoplasia ... |
ORPHA:50814 |
Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Broad skull, Microspherophakia, Brachycephaly |
OMIM:277600 |
Fanconi Anemia, Complementation Group C |
|
Epicanthus, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short th... |
OMIM:227645 |
Saethre-Chotzen Syndrome |
|
Craniosynostosis, Hypoplasia of the maxilla, Cryptorchidism, Brachycephaly, Plagiocephaly |
ORPHA:794 |
Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Choroidal n... |
ORPHA:51608 |
Van Maldergem Syndrome 2 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclusion, Hypoplastic nipples... |
OMIM:615546 |
Van Maldergem Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Malar flattening, Midface retrusion |
OMIM:601390 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossit... |
OMIM:175500 |
Carney Complex |
|
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O... |
ORPHA:1359 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Chiari... |
ORPHA:573278 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Protruding tongue, Microcephaly, Limb hypertonia, Ventriculomegaly, Hearing i... |
OMIM:619580 |
Townes-Brocks Syndrome |
|
Anteriorly placed anus, Chorioretinal coloboma, Limbal dermoid, Agenesis of corpus callosum, Hypo... |
ORPHA:857 |
Distal Xq28 Microduplication Syndrome |
|
Hypoplasia of the maxilla, Hypothyroidism |
ORPHA:293939 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Carious teeth, Narrow mouth, Corneal ... |
ORPHA:89842 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef... |
OMIM:192445 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Cerebrofacioarticular Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Dysplastic corpus callosum, Absence of pubertal developm... |
ORPHA:314679 |
7Q31 Microdeletion Syndrome |
|
Plagiocephaly, Hypoplasia of the maxilla |
ORPHA:251061 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Blindness, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, High myopia,... |
OMIM:608328 |
Microsporidiosis |
|
Myositis, Sinusitis, Keratitis, Abnormality of the parathyroid gland, Thyroiditis, Keratoconjunct... |
ORPHA:2552 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Thin upper lip vermilion, Telecanthus, Abnormal eyelash morphology, Downturned corners of mouth, ... |
ORPHA:3164 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Shprintzen Omphalocele Syndrome |
|
Epicanthus, Flared nostrils, Wide nasal bridge, Hypoplasia of the pharynx, Thin vermilion border,... |
OMIM:182210 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Short toe, Hypoplasia of the radius, Short metatarsal, Acromesomelia, Short nose |
OMIM:602875 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Epicanthus, Tracheoesophageal fistula, Microtia, High palate, Low-set e... |
OMIM:277380 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Wide nose, Micrognathia, Underdeveloped nasal alae, Hypertelorism, Supernumerary tooth, Concave n... |
OMIM:619525 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Cheilitis, Furrowed tongue, Macroglossia, Abnormal autonomic nervous system physiology |
ORPHA:2483 |
Exstrophy-Epispadias Complex |
|
Spina bifida, Microcephaly, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual... |
ORPHA:322 |
Pearson Syndrome |
|
Cataract, Corneal stromal edema, Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of ... |
ORPHA:699 |
Hypohidrotic Ectodermal Dysplasia |
|
Hypoplasia of the maxilla, Frontal bossing, Sinusitis, Breast aplasia |
ORPHA:238468 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Erythematous oral mucosa, Furrowed tongue, Keratoconjunctivitis, Opacification of the c... |
OMIM:158310 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Frontal bossing, Micrognathia, Hypoplasia of the maxilla, Brachycephaly |
OMIM:259600 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Bilateral cryptorchidism, Hypoplasia of the max... |
OMIM:211380 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Spina bifida, Microcephaly, Hydrocephalus,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Spina bifida, Microcephaly, Hydrocephalus,... |
ORPHA:363958 |
Rapp-Hodgkin Syndrome |
|
Supernumerary nipple, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Enamel hypoplasia, D... |
OMIM:129400 |
3Mc Syndrome 2 |
|
Cryptorchidism, Prominence of the premaxilla, Skull asymmetry, Craniosynostosis |
OMIM:265050 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Delayed eruption of permanent teeth |
OMIM:620370 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Precocious puberty, Cryptorchidism, Hypoplasia ... |
ORPHA:2588 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Blue sclerae |
OMIM:619120 |
Fanconi Anemia, Complementation Group E |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Microce... |
OMIM:600901 |
Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity, Abnormal pupil morphology, Anisocoria |
ORPHA:90658 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Blue sclerae |
OMIM:619115 |
Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Microce... |
OMIM:227650 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Stillbirth, Pancreatic islet-cell hyperplasia, Neonatal ... |
OMIM:215140 |
Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Supernumerary nipple |
OMIM:106260 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Cataract, Hyperthyroidism, Facial palsy, Parotitis, Diabetes in... |
ORPHA:797 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palat... |
OMIM:613091 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening |
OMIM:231070 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Pancreatic fibrosis, Retinal dystrophy, Hamartoma of tongue, Intest... |
OMIM:263520 |
Meier-Gorlin Syndrome 5 |
|
Hypoplasia of the maxilla, Cryptorchidism, Micrognathia |
OMIM:613805 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Absent nipple, Craniosynostosis, Hypoplasia of the maxilla, Carious teeth,... |
ORPHA:1299 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Nasal polyposis, Hypermelanotic macule, Rectal prolapse, Multiple gastr... |
OMIM:175200 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Partial agenesis of the corpus callosum, Thin corpus callosum, Spina bifida |
OMIM:619480 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Hypertelorism, Micrognathia, Orofacial cleft, Blue sclerae, High palate,... |
ORPHA:60030 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cavum septum pellucidum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Spina bifida |
OMIM:274000 |
Hypoglossia-Hypodactylia |
|
Epicanthus, Micrognathia, Adactyly, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Campomelic Dysplasia |
|
Relative macrocephaly, Spina bifida, Hydrocephalus, Spinal dysraphism, Macrocephaly |
OMIM:114290 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia... |
OMIM:309000 |
Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Bifid tongue, Cleft palate, ... |
ORPHA:2167 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Narrow mouth, Blue sclerae, Malabsorption |
OMIM:616539 |
Hartnup Disease |
|
Malabsorption, Hypopigmented skin patches, Gingivitis, Irregular hyperpigmentation, Glossitis |
ORPHA:2116 |
Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widel... |
OMIM:257980 |
Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Micromelia, Abnormality of the dentition, Trismus, Flexion contracture, ... |
ORPHA:3206 |
Ear-Patella-Short Stature Syndrome |
|
Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Breast aplasia, Mandib... |
ORPHA:2554 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Micrognathia, Hypoplasia of the ... |
OMIM:209885 |
Meier-Gorlin Syndrome 1 |
|
Frontal bossing, Death in infancy, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Breas... |
OMIM:224690 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology, Cerebral cortical atrophy |
ORPHA:93256 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Supernumerary nipple, Cleft upper lip, Microcephaly, Cleft palate, Microphthalmia,... |
OMIM:100300 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Breast hypoplasia |
OMIM:613803 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias |
ORPHA:3063 |
Van Den Ende-Gupta Syndrome |
|
Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Scaphocephaly, Malar flattening |
OMIM:600920 |
Choreoacanthocytosis |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Temporomand... |
ORPHA:2388 |
Hardikar Syndrome |
|
Pigmentary retinopathy |
OMIM:301068 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Abnormality of the endocrine system, Precocious puberty, Cryptorchidism, Abnor... |
ORPHA:438213 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Frontal bossing, Miscarriage, Micrognathia, Hypoplasia of the maxilla, Cry... |
ORPHA:96334 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Kawasaki Disease |
|
Recurrent pharyngitis, Cheilitis, Conjunctivitis, Glossitis, Ptosis |
ORPHA:2331 |
Glucagonoma |
|
Neoplasm of the pancreas, Intestinal obstruction, Diabetes mellitus, Stomatitis, Elevated circula... |
ORPHA:97280 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypoplasia of the maxilla, Carious teeth, Taurodonti... |
ORPHA:1775 |
Psoriasis 14, Pustular |
|
Geographic tongue, Furrowed tongue |
OMIM:614204 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Glossitis, Cheilitis |
ORPHA:90045 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Penile Agenesis |
|
Depressed nasal bridge, Posteriorly rotated ears, Maternal diabetes, Rectal fistula, Cryptorchidi... |
ORPHA:49 |
X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Protruding tongue |
ORPHA:53351 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... |
OMIM:604292 |
Vater/Vacterl Association |
|
Occipital encephalocele, Spina bifida, Patent urachus |
OMIM:192350 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate |
ORPHA:79284 |
Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis, Uveitis |
ORPHA:247353 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla |
ORPHA:96129 |
Peters-Plus Syndrome |
|
Frontal bossing, Bilobate gallbladder, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:261540 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality iris morphology |
ORPHA:91387 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Foot joint contracture, Esophageal ulceration, Anal fissure, Oral mucosal... |
ORPHA:79408 |
Cystic Fibrosis |
|
Sinusitis, Nasal polyposis, Meconium ileus, Malabsorption, Rectal prolapse, Steatorrhea, Hearing ... |
ORPHA:586 |
Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Hydrocephalus, Spina bifida, Cryptorchidism |
OMIM:304120 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
Cystic Fibrosis |
|
Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Steatorrhea, Chronic sinusitis |
OMIM:219700 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Breast hypoplasia |
ORPHA:920 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Bilateral cryptorchidism, Hypoplasia of the maxilla, Malar flattening, Mandibular prognathia |
OMIM:617402 |
Igg4-Related Kidney Disease |
|
Sialadenitis, Abnormality of the anterior pituitary, Chronic sinusitis, Thyroiditis |
ORPHA:449395 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Micrognathia |
OMIM:614437 |
Neurooculorenal Syndrome |
|
Iris atrophy, Hypermetropia |
OMIM:620305 |
Primrose Syndrome |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cryptorchidism, Hypo... |
OMIM:259050 |
Plague |
|
Chapped lip, Hearing impairment, Enterocolitis, Inflammation of the large intestine, Conjunctival... |
ORPHA:707 |
Floating-Harbor Syndrome |
|
Persistence of primary teeth, Precocious puberty, Cryptorchidism, Hypoplasia of the maxilla, Cari... |
ORPHA:2044 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Cryptorchidism |
OMIM:276820 |
Singleton-Merten Syndrome 1 |
|
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Thicken... |
OMIM:182250 |
Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300106 |