banner
Genes Phenotypes Help, News, Blog

Gene: Otx2 MGI:97451

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
orthodenticle homeobox 2
Synonyms:
E130306E05Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Otx2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Otx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Otx2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Otx2.

No publications found that use IMPC mice or data for Otx2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Otx2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter