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Gene: Pax6 MGI:97490

Gene Summary

Name:

paired box 6

Synonyms:

Gsfaey11, Pax-6, Dey, AEY11, 1500038E17Rik, Dickie's small eye

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
corneal opacity	Pax6^em1(IMPC)Mbp	HET	Early adult	1.20×10^-08
abnormal placenta morphology	Pax6^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal eye morphology	Pax6^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Pax6^em1(IMPC)Mbp	HET	E15.5	0.00
corneal vascularization	Pax6^em1(IMPC)Mbp	HET	Early adult	1.84×10^-07
abnormal liver morphology	Pax6^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Pax6^em1(IMPC)Mbp	HOM	Early adult	0.00
anophthalmia	Pax6^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal craniofacial morphology	Pax6^em1(IMPC)Mbp	HOM	E15.5	0.00
small liver	Pax6^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal brain morphology	Pax6^em1(IMPC)Mbp	HET	Early adult	0.00
anophthalmia	Pax6^em1(IMPC)Mbp	HOM	E15.5	0.00
hyperactivity	Pax6^em1(IMPC)Mbp	HET	Early adult	1.38×10^-05
microphthalmia	Pax6^em1(IMPC)Mbp	HET	E15.5	0.00
facial cleft	Pax6^em1(IMPC)Mbp	HOM	E15.5	0.00
cleft palate	Pax6^em1(IMPC)Mbp	HOM	E15.5	0.00
microphthalmia	Pax6^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta vasculature	Pax6^em1(IMPC)Mbp	HOM	E15.5	0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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Gross Morphology Embryo E14.5-E15.5

Images

26 Images

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X-ray

XRay Images Whole Body Dorso Ventral

20 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Pax6 mutations

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

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

Human diseases associated with Pax6 (14 diseases)
Human diseases predicted to be associated with Pax6 (2987 diseases)

The table below shows human diseases associated to Pax6 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Isolated Aniridia	Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia	ORPHA:250923
Anterior Segment Dysgenesis 5	Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Autosomal Dominant Keratitis	Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Micr...	ORPHA:2334
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Foveal Hypoplasia 1	Presenile cataracts, Hypoplasia of the fovea	OMIM:136520
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas...	OMIM:106210
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Generalized hyperpigmentation, Cataract	ORPHA:2253
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris	ORPHA:893
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Microphthalmia/Coloboma 12	Microphthalmia, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Ch...	OMIM:120200
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550

The table below shows human diseases predicted to be associated to Pax6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Cerebellar Degeneration-Related Autoantigen 3	Abnormal cerebellum morphology	OMIM:602197
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia, Coloboma	OMIM:251505
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Iris coloboma	OMIM:616428
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Coats Disease	Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma...	ORPHA:190
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Isolated Aniridia	Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia	ORPHA:250923
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Anterior Segment Dysgenesis 3	Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e...	OMIM:601631
Anterior Segment Dysgenesis 5	Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Exfoliation Syndrome	Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in...	OMIM:177650
Autosomal Dominant Keratitis	Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Micr...	ORPHA:2334
Cataract 44	Developmental cataract	OMIM:616509
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Microphthalmia/Coloboma 3	Cataract, Microphthalmia, Iris coloboma	OMIM:610092
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Microphthalmia/Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Aniridia 3	Cataract, Aniridia	OMIM:617142
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Bilateral Acute Depigmentation Of The Iris	Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe...	ORPHA:69736
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Edict Syndrome	Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris	OMIM:614303
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Cataract 11, Multiple Types	Cataract, Microphthalmia, Developmental cataract, Blindness	OMIM:610623
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Microcoria, Congenital	Miosis, Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme...	ORPHA:83461
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:611638
Microcornea, Glaucoma, And Absent Frontal Sinuses	Microcornea	OMIM:156700
Cataract 7	Visual loss, Mildly reduced visual acuity, Developmental cataract	OMIM:115660
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Dermochondrocorneal Dystrophy	Corneal dystrophy	ORPHA:79149
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Coloboma, Corneal opacity, Congenital aphakia, Anterior se...	OMIM:610256
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Fryns Microphthalmia Syndrome	Tessier cleft, Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft palate, Bilatera...	OMIM:600776
Uveal Melanoma	Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat...	ORPHA:39044
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Corneal Dystrophy, Avellino Type	Lattice corneal dystrophy, Reduced visual acuity, Visual impairment	OMIM:607541
Central Cloudy Dystrophy Of Francois	Corneal dystrophy, Central corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Norrie Disease	Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit...	OMIM:310600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Cerebellar dysplasia, Neural tube defect	OMIM:615041
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Cataract 3, Multiple Types	Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract	OMIM:601547
Trichomegaly	Cataract	OMIM:190330
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Corneal Dystrophy, Lattice Type I	Recurrent corneal erosions, Lattice corneal dystrophy	OMIM:122200
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy	OMIM:121820
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Developmental glaucoma, Aniridia	OMIM:206750
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Reduced visual acuity, Visual impairment	OMIM:616335
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Microphthalmia, Syndromic 16	Microphthalmia, Sclerocornea, Anophthalmia	OMIM:611038
Cataract 9, Multiple Types	Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Amblyopia, V...	OMIM:604219
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis	OMIM:601820
Microphthalmia/Coloboma 6	Bilateral microphthalmos, Coloboma, Optic disc hypoplasia, Hypoplasia of the fovea	OMIM:613703
Foveal Hypoplasia 1	Presenile cataracts, Hypoplasia of the fovea	OMIM:136520
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Cataract 21, Multiple Types	Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ...	OMIM:610202
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
X-Linked Retinoschisis	Cataract, Retinoschisis	ORPHA:792
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Corneal opacity, Microcornea	ORPHA:2432
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo...	OMIM:193510
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Facial Clefting, Oblique, 1	Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Microphthalmia	OMIM:600251
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal...	ORPHA:171673
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas...	OMIM:106210
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con...	OMIM:180550
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Optic atrophy, Hypoplasia of the fovea, Iris cyst	OMIM:620086
Nathalie Syndrome	Cataract	ORPHA:2663
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme...	ORPHA:98973
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber	OMIM:618880
D-Lactic Aciduria With Gout	Aniridia	OMIM:245450
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Generalized hyperpigmentation, Cataract	ORPHA:2253
Foveal Hypoplasia 2	Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea	OMIM:609218
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op...	ORPHA:98957
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Tietz Syndrome	Abnormal anterior chamber morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Abn...	ORPHA:42665
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Opt...	OMIM:611040
Cataract 6, Multiple Types	Choroideremia, Developmental cataract, Posterior polar cataract	OMIM:116600
Microphthalmia, Isolated 4	Coloboma, Microphthalmia	OMIM:613094
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microphthalmia, Microcornea, Remnants of the hyaloid vascular system, Chori...	ORPHA:231736
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613801
Anencephaly 2	Anencephaly, Anophthalmia, Median cleft palate, Cleft maxillary alveolar ridge, Median cleft uppe...	OMIM:619452
Morquio Syndrome C	Corneal opacity	OMIM:252300
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Microphthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:120433
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy	ORPHA:458798
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c...	OMIM:217300
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormal...	OMIM:251270
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Microphthalmia, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorio...	ORPHA:1473
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Band keratopathy, Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber,...	OMIM:614195
Nanophthalmos 4	Microphthalmia, Reduced visual acuity, Hypermetropia	OMIM:615972
Isolated Arrhinia	Midline defect of the nose, Microphthalmia, Aplasia/Hypoplasia of the nasal septum, Absent nasal ...	ORPHA:1134
Amyotrophic Lateral Sclerosis 3	Cerebellar atrophy	OMIM:606640
Microphthalmia, Isolated 6	Microcornea, Microphthalmia, Amblyopia, High hypermetropia	OMIM:613517
Isolated Split Hand-Split Foot Malformation	Aniridia	ORPHA:2440
Galactosialidosis	Corneal opacity	ORPHA:351
Nasal Bones, Absence Of	Narrow naris, Short columella	OMIM:161480
Macular Dystrophy, Corneal	Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea	OMIM:217800
Neovascular Glaucoma	Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal...	ORPHA:94058
Blue Cone Monochromatism	Corneal dystrophy, Abnormality of retinal pigmentation	ORPHA:16
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber	OMIM:616722
Vernal Keratoconjunctivitis	Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat...	ORPHA:70476
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Woolly Hair	Cataract, Abnormal pupil morphology, Abnormal retinal morphology	ORPHA:170
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Retin...	OMIM:221900
Coats Disease	Retinal telangiectasia, Exudative retinal detachment, Leukocoria	OMIM:300216
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Corneal Dystrophy, Lattice Type Iiia	Lattice corneal dystrophy, Reduced visual acuity, Corneal erosion, Visual impairment	OMIM:608471
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Ocular anterior segment dysgenesis, Microphthalmia, Retinal dysplasia, H...	ORPHA:324416
Conductive Deafness-Malformed External Ear Syndrome	Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm...	ORPHA:3216
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Microphthalmia, Coloboma, Peters anomaly, Iris coloboma	OMIM:610023
Cataract 30, Multiple Types	Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract	OMIM:116300
Cataract 16, Multiple Types	Lenticonus, Developmental cataract, Posterior polar cataract	OMIM:613763
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Cataract 20, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract	OMIM:116100
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr...	OMIM:180104
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	OMIM:619947
Gillespie Syndrome	Aniridia, Hypoplasia of the iris	OMIM:206700
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Corneal Dystrophy, Fleck	Speckled corneal dystrophy	OMIM:121850
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin, Chorioreti...	OMIM:619165
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Mac...	OMIM:267760
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract	ORPHA:90654
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C...	OMIM:613731
Microphthalmia, Syndromic 13	Microphthalmia, Chorioretinal coloboma, Microcornea, Iris coloboma	OMIM:300915
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Axenfeld-Rieger Syndrome, Type 3	Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ...	OMIM:602482
Facial Spasm	Anisocoria	OMIM:134300
Corneal Dystrophy, Gelatinous Drop-Like	Photophobia, Corneal dystrophy, Reduced visual acuity, Visual impairment, Blurred vision	OMIM:204870
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- and hyperpigmentation, Cho...	OMIM:601706
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Oculoauricular Syndrome	Microphakia, Microphthalmia, Phthisis bulbi, Ocular anterior segment dysgenesis, Chorioretinal at...	OMIM:612109
X-Linked Recessive Ocular Albinism	Astigmatism, Iris hypopigmentation, Hypoplasia of the fovea, Abnormal macular morphology, Abnorma...	ORPHA:54
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Neonatal death, Broad nasal tip, Wide nasal bridge	OMIM:615524
Galactosemia Ii	Cataract	OMIM:230200
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microphthalmia, Microcornea	ORPHA:2528
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ...	OMIM:136800
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Gms Syndrome	Rieger anomaly, Tricuspid regurgitation	ORPHA:2090
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Cataract, Optic disc pallor	OMIM:165300
Cataract 47	Cataract, Microcornea	OMIM:612018
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Glaucoma 1, Open Angle, A	Abnormal iris vasculature	OMIM:137750
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Corneal opacity, Aniridia	ORPHA:1064
Thiel-Behnke Corneal Dystrophy	Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	ORPHA:98960
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Galactosemia Iv	Cataract	OMIM:618881
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Myopia, Microphthalmia, Visual impairment	ORPHA:1574
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A...	OMIM:204100
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Tietz Albinism-Deafness Syndrome	Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Hypopigmentat...	OMIM:103500
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Astigmatism, Retinal pigment epithelial mottling	OMIM:300814
Nephroblastoma	Aniridia	ORPHA:654
Anophthalmia Plus Syndrome	Tessier cleft, Anophthalmia, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bi...	ORPHA:1104
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Upslanted palpebral fissure, Attenuat...	OMIM:616108
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Visual field defect, Reduced visual acuity, Abnormal anterior eye segment morphol...	ORPHA:209956
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Frontonasal Dysplasia With Alar Clefts	Cleft ala nasi, Underdeveloped nasal alae	OMIM:203000
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria...	OMIM:619649
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris	ORPHA:893
Weill-Marchesani Syndrome 4	Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ...	OMIM:613195
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, ...	OMIM:212550
Congenital Microcoria	Iris transillumination defect, Abnormal pupillary light reflex, Astigmatism, Corneal stromal edem...	ORPHA:566
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Optic d...	ORPHA:263479
Atopic Keratoconjunctivitis	Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ...	ORPHA:163934
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, High hypermetropia	OMIM:251700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Leber Congenital Amaurosis 8	Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio...	OMIM:613835
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea	ORPHA:3214
Bardet-Biedl Syndrome 18	Cataract, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Leber Congenital Amaurosis 16	Photophobia, Visual field defect, Reduced visual acuity, Cataract, Visual impairment, Nyctalopia	OMIM:614186
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Intestinal Botulism	Mydriasis	ORPHA:178481
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Palpebral edema, Ptosis, Ectopia lentis, Abnormality of retinal pigmentation, Iris coloboma	ORPHA:1259
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia	OMIM:278780
Spinocerebellar Ataxia 41	Cerebellar vermis atrophy, Cerebellar atrophy	OMIM:616410
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Syngnathia	Cleft palate	OMIM:119550
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Convex nasal ridge, Underdeveloped nasal alae, Wide nasal bridge, Cleft ala nasi	ORPHA:2007
Axenfeld-Rieger Syndrome, Type 1	Polycoria, Aniridia, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior embryotoxon, Ri...	OMIM:180500
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Retinal dystrophy, Anophthalmia, Microcornea, Sclerocornea, Chorioretinal colobom...	ORPHA:139471
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Hypermetropia, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lent...	OMIM:251750
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Microphthalmia, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic disc pa...	OMIM:616171
Nystagmus 2, Congenital, Autosomal Dominant	Mildly reduced visual acuity, Reduced visual acuity, Visual impairment	OMIM:164100
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the fovea, Hypopi...	OMIM:203200
Rhiny	Short nose, Anteverted nares	OMIM:180360
Spastic Ataxia-Corneal Dystrophy Syndrome	Corneal dystrophy, Developmental cataract	ORPHA:2572
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Hec Syndrome	Developmental cataract, Abnormal pupil morphology, Abnormal retinal vascular morphology	ORPHA:2119
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Corneal neovascularization, Keratitis, Conjunctivitis, Cataract, Keratoconjunctiv...	OMIM:278730
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia	OMIM:194072
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Nathalie Syndrome	Cataract	OMIM:255990
Craniofacial Microsomia 2	Microtia, Microtia, third degree, Microtia, second degree, Microtia, first degree	OMIM:620444
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Microphthalmia, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal detachment, Retinal fold, Shallow anterior chamber, Intraretinal exudate,...	OMIM:305390
Oculocutaneous Albinism Type 6	Abnormal foveal morphology on macular OCT, Abnormal fundus morphology, Abnormal iris pigmentation...	ORPHA:370097
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Microphthalmia, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Congenital Rubella Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:290
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto...	ORPHA:96125
Bietti Crystalline Dystrophy	Large central visual field defect, Constriction of peripheral visual field, Color vision defect, ...	ORPHA:41751
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Macular exudate, Retinal neovascularization, Chorioretina...	ORPHA:891
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Hypomyelination-Congenital Cataract Syndrome	Abnormal cerebellum morphology, Developmental cataract	ORPHA:85163
Phacoanaphylactic Uveitis	Cystoid macular edema, Corneal keratic precipitates, Anterior uveitis, Panuveitis, Pseudophakia, ...	ORPHA:209959
Chylous Ascites	Abnormal intestine morphology, Pancreatitis, Neoplasm	ORPHA:1160
Leg, Absence Deformity Of, With Congenital Cataract	Optic nerve dysplasia, Progressive cataract, Developmental cataract	OMIM:246000
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Intermediate Uveitis	Band keratopathy, Cystoid macular edema, Optic neuritis, Vitreous snowballs, Vitreous floaters, V...	ORPHA:279914
Pierson Syndrome	Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnant...	OMIM:609049
Optic Atrophy 9	Red-green dyschromatopsia, Reduced visual acuity, Visual impairment, Paracentral scotoma	OMIM:616289
Short Syndrome	Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Sclerocornea, Cataract, Iris coloboma	ORPHA:251038
Leber Congenital Amaurosis 11	Reduced visual acuity, Visual impairment	OMIM:613837
Iatrogenic Botulism	Mydriasis	ORPHA:254509
Coloboma Of Macula With Type B Brachydactyly	Coloboma	OMIM:120400
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormally prominent line of Schwalbe, Rieger anomaly	OMIM:109120
Axenfeld-Rieger Syndrome	Abnormal anterior chamber morphology, Posterior embryotoxon, Aplasia/Hypoplasia of the iris	ORPHA:782
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Persistent Placoid Maculopathy	Reduced visual acuity, Hypoplasia of the fovea, Scintillating scotoma, Metamorphopsia, Amblyopia	ORPHA:97341
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea	OMIM:617272
Waardenburg Syndrome, Type 2E	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir...	OMIM:611584
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Adult-Onset Foveomacular Vitelliform Dystrophy	Choroideremia, Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions	ORPHA:99000
Wound Botulism	Mydriasis	ORPHA:178475
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Astigmatism, Pigmentary retinopathy	OMIM:268060
Retinitis Pigmentosa 35	Reduced visual acuity, Blindness, Nyctalopia	OMIM:610282
Exudative Vitreoretinopathy 5	Retinal exudate, Shallow anterior chamber, Tractional retinal detachment, Exudative vitreoretinop...	OMIM:613310
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation, Astigmatism	OMIM:300843
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Low posterior hairline, Iris ...	ORPHA:85194
Winchester Syndrome	Corneal opacity	OMIM:277950
Retinitis Pigmentosa 46	Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod...	OMIM:612572
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ...	OMIM:193230
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Åland Islands Eye Disease	Color vision defect, Astigmatism, Reduced visual acuity, Hypoplasia of the fovea, Difficulty adju...	ORPHA:178333
Macular Dystrophy, Vitelliform, 5	Reduced visual acuity, Moderately reduced visual acuity, Central scotoma	OMIM:616152
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, High, narrow palate, Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerv...	OMIM:607597
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,...	OMIM:613270
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Traboulsi Syndrome	Microphthalmia, Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chambe...	OMIM:601552
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti...	OMIM:615113
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Optic atrophy, Macular dystrophy, Hypopigmentation of hair, Hypopigmen...	ORPHA:33445
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Coxoauricular Syndrome	Hearing impairment, Microtia	OMIM:122780
Waardenburg Syndrome, Type 1	Premature graying of hair, Heterochromia iridis, Myelomeningocele, Synophrys, White forelock, Hyp...	OMIM:193500
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract	OMIM:116200
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal...	ORPHA:91495
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Inhalational Botulism	Mydriasis	ORPHA:254504
Cerebrooculonasal Syndrome	Tessier cleft, Widely spaced teeth, Solitary median maxillary central incisor, Anophthalmia, High...	ORPHA:66625
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplasia	OMIM:606574
Leber Congenital Amaurosis 1	Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, P...	OMIM:204000
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Frontonasal Dysplasia 3	Tessier cleft, Microphthalmia, Cleft palate	OMIM:613456
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Night Blindness, Congenital Stationary, Autosomal Dominant 2	Congenital stationary night blindness, Reduced visual acuity, Moderate myopia	OMIM:163500
Abruzzo-Erickson Syndrome	Hearing impairment, Macrotia, Protruding ear, Coloboma	OMIM:302905
Woolly Hair Nevus	Persistent pupillary membrane, Heterochromia iridis	ORPHA:79414
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Palmoplantar Carcinoma, Multiple Self-Healing	Limbal stem cell deficiency, Corneal neovascularization	OMIM:615225
Cataract 17, Multiple Types	Microcornea, Amblyopia, Developmental cataract, Reduced visual acuity, Nuclear cataract, Pulverul...	OMIM:611544
N Syndrome	Megalocornea	ORPHA:2608
Gracile Bone Dysplasia	Hydrocephalus, Microphthalmia, Aniridia, Death in infancy	OMIM:602361
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Developmental cataract, Blindness	OMIM:607674
Leber Congenital Amaurosis 4	Keratoconus, Reduced visual acuity, Blindness, Nyctalopia	OMIM:604393
Newfoundland Rod-Cone Dystrophy	Color vision defect, Scotoma, Central scotoma, Reduced visual acuity, Ring scotoma, Nyctalopia	OMIM:607476
Chudley-Mccullough Syndrome	Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus	OMIM:604213
Cofs Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation, Cataract	ORPHA:1466
Usher Syndrome Type 3	Astigmatism, Visual loss, Scotoma, Hemianopia, Iris hypopigmentation, Cataract, High hypermetropi...	ORPHA:231183
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Oliver-Mcfarlane Syndrome	Peripheral axonal neuropathy, Long eyebrows, Long eyelashes, Central heterochromia, Retinal degen...	OMIM:275400
Retinal Cone Dystrophy 3B	Astigmatism, Scotoma, Photophobia, Reduced visual acuity, Myopia, Nyctalopia	OMIM:610356
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,...	OMIM:312600
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
2Q24 Microdeletion Syndrome	Abnormality iris morphology, Coloboma, Microphthalmia, Cataract	ORPHA:1617
Oculocutaneous Albinism Type 4	Optic nerve misrouting, Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris ...	ORPHA:79435
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Gombo Syndrome	Microphthalmia	OMIM:233270
Sveinsson Chorioretinal Atrophy	Astigmatism, Peripapillary chorioretinal atrophy	OMIM:108985
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Chondrodysplasia-Difference Of Sex Development Syndrome	Miosis, Chorioretinal coloboma, Hypoplasia of the iris	ORPHA:1422
Megalocornea-Intellectual Disability Syndrome	Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Megalocornea, Hypoplasia of the ...	ORPHA:2479
Wagro Syndrome	Cataract, Corneal opacity, Aniridia	OMIM:612469
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia, Iris coloboma	ORPHA:139450
Microphthalmia, Syndromic 5	Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract	OMIM:610125
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Peroxisome Biogenesis Disorder 2B	Polar cataract	OMIM:202370
Vitreoretinochoroidopathy	Microphthalmia, Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retin...	OMIM:193220
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Encephalocraniocutaneous Lipomatosis	Limbal dermoid, Microphthalmia, Sclerocornea, Hypoplasia of the iris	OMIM:613001
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
Morm Syndrome	Cataract, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring	OMIM:602082
Botulism	Mydriasis	ORPHA:1267
Nystagmus 1, Congenital, X-Linked	Mildly reduced visual acuity, Reduced visual acuity	OMIM:310700
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microphthalmia, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, ...	OMIM:152950
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Anterior encephalocele, Cleft upper lip, Bilateral cleft lip	OMIM:601357
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull...	OMIM:180105
Epithelial Recurrent Erosion Dystrophy	Corneal erosion	OMIM:122400
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Retinopathy Of Prematurity	Amblyopia, Reduced visual acuity, Cataract, Myopia, Blindness	ORPHA:90050
Neuhauser Syndrome	Corneal arcus, Iris transillumination defect, Iridodonesis, Retinal detachment, Megalocornea, Hyp...	OMIM:249310
Microphthalmia/Coloboma 9	Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Retinal detachment, Microco...	OMIM:615145
Autoinflammation With Arthritis And Dyskeratosis	Punctate keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Uveitis	OMIM:617388
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Abnormal vitreous humor morphology, Aniridia, Anophthalmia, Corneal dystrophy, Megalocornea, Abno...	ORPHA:1101
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Intellectual Developmental Disorder, Autosomal Recessive 67	Sensorineural hearing impairment, Coloboma, Posteriorly rotated ears	OMIM:618295
Microphthalmia/Coloboma 12	Microphthalmia, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Ch...	OMIM:120200
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ...	OMIM:613581
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Microcornea, Absent foveal reflex, Peripheral retinal atrophy, Iris coloboma	OMIM:615147
Weill-Marchesani Syndrome 3	Microspherophakia, High myopia, Ectopia lentis, Shallow anterior chamber	OMIM:614819
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, High palate, Choanal atresia, Cleft palate, Abnormality of the sense of smell, Ap...	ORPHA:1135
Hyperparathyroidism 2 With Jaw Tumors	Parathyroid carcinoma, Renal cortical adenoma, Recurrent pancreatitis, Papillary renal cell carci...	OMIM:145001
Cataract 19, Multiple Types	Cortical pulverulent cataract, Amblyopia	OMIM:615277
Myopia 23, Autosomal Recessive	High myopia, Increased axial length of the globe, Reduced visual acuity, Visual impairment	OMIM:615431
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Freckling, Spotty...	ORPHA:241
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the dentition, Aplasia/Hypoplasia affecting the eye, Cleft palate, ...	ORPHA:1794
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Foodborne Botulism	Mydriasis	ORPHA:228371
Oculocutaneous Albinism Type 3	Blue irides, Optic nerve misrouting, Red hair, Hypopigmentation of the skin, Iris hypopigmentatio...	ORPHA:79433
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis, Myopia	OMIM:110150
Biemond Syndrome Ii	Iris coloboma	OMIM:210350
Duane Retraction Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Optic disc hypoplasia, Aniridia, Spina b...	ORPHA:233
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A...	OMIM:602772
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Abnormal corneal endothelium morphology, Posterior subcapsular catar...	ORPHA:364055
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy, Cataract	OMIM:620312
Late-Onset Retinal Degeneration	Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina...	ORPHA:67042
Donnai-Barrow Syndrome	Retinal dystrophy, Retinal detachment, Hypoplasia of the iris, Cataract, Iris coloboma	OMIM:222448
Idiopathic Panuveitis	Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju...	ORPHA:280921
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Microphthalmia, Coloboma	OMIM:274270
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy, Iris atrophy	OMIM:620422
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Death in childhood, Retinal detachment, Hydrocephalus, Coloboma, Corneal opacity,...	OMIM:613153
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy, Hypertrophic cardiomyopathy	ORPHA:1369
Retinitis Pigmentosa 77	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Cystoid macular edema, R...	OMIM:617304
Retinitis Pigmentosa 43	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ...	OMIM:613810
Retinitis Pigmentosa 78	Photopsia, Visual field defect, Reduced visual acuity, Nyctalopia	OMIM:617433
Choroideremia	Abnormality of vision, Myopia, Progressive visual loss, Visual impairment, Nyctalopia	ORPHA:180
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Achromatopsia 3	Achromatopsia, Photophobia, Monochromacy, Dyschromatopsia, High myopia, Cataract, Severely reduce...	OMIM:262300
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Retinal detachment, Abnormal eyelash morph...	ORPHA:3437
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Visual loss, Corneal opacity, Abnormal Descemet membrane...	ORPHA:98974
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of the fundus, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Color vision defect, Photophobia, Central scotoma, Blind-spot enlargment, Reduced visual acuity, ...	OMIM:616732
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Alexander Disease	Microcoria	OMIM:203450
Microphthalmia, Syndromic 8	Microphthalmia, Microcornea	OMIM:601349
Retinal Dystrophy And Obesity	Astigmatism, Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood ve...	OMIM:616188
Retinitis Pigmentosa 83	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Asteroid hyalosis, Cysto...	OMIM:618173
Seckel Syndrome 4	Intrauterine growth retardation, Retrognathia, Underdeveloped nasal alae	OMIM:613676
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Hypoplasia of the fovea, Fair hair	OMIM:113750
Nystagmus 3, Congenital, Autosomal Dominant	Reduced visual acuity	OMIM:608345
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Aland Island Eye Disease	Protanopia, Astigmatism, Hypoplasia of the fovea, Myopia, Severely reduced visual acuity	OMIM:300600
Microhydranencephaly, X-Linked	Holoprosencephaly	OMIM:306990
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Klippel-Feil Syndrome 3, Autosomal Dominant	Chorioretinal coloboma, Iris coloboma	OMIM:613702
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Acrofacial Dysostosis, Weyers Type	Tessier cleft, Advanced eruption of teeth, Solitary median maxillary central incisor, Conical too...	ORPHA:952
Griscelli Syndrome, Type 2	Death in childhood, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentatio...	OMIM:607624
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Retinopathy, Iris hypopigmentation, Partial albinism	ORPHA:79476
Oculocutaneous Albinism Type 1	Iris transillumination defect, Optic nerve misrouting, Abnormal morphology of the choroidal vascu...	ORPHA:352731
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, High palate, Anosmia, Choanal atresia, Paranasal sinus hypoplasia, Hypoplasia of ...	OMIM:603457
Choroideremia	Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,...	OMIM:303100
Peroxisome Biogenesis Disorder 10A (Zellweger)	Cataract	OMIM:614882
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Macular degeneration, At...	OMIM:618195
Leber Congenital Amaurosis 12	Congenital blindness	OMIM:610612
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Synophrys, Ptosis, Downslanted palpebral fissures, Abnormality of retinal p...	ORPHA:1390
Cone-Rod Dystrophy 12	Color vision defect, Nyctalopia, Reduced visual acuity, Central scotoma	OMIM:612657
Miller Fisher Syndrome	Mydriasis, Anisocoria	ORPHA:98919
Nivelon-Nivelon-Mabille Syndrome	Optic disc coloboma, Hypoplasia of the iris	OMIM:600092
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Optic nerve misrouting, Macular hypopigmentation, Hyp...	ORPHA:79432
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79434
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Reduced visual acuity, Nyctalopia	OMIM:610156
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Cataract	OMIM:615181
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma, Epicanthus	ORPHA:2489
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Retinitis Pigmentosa 29	Blindness	OMIM:612165
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613265
Retinitis Pigmentosa 14	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal arteriolar const...	OMIM:600132
Orofacial Cleft 10	Unilateral cleft lip, Unilateral cleft palate	OMIM:613705
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Cat-Eye Syndrome	Downslanted palpebral fissures, Microphthalmia, Chorioretinal coloboma, Iris coloboma	ORPHA:195
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1074
Senior-Loken Syndrome 6	Reduced visual acuity, Visual impairment	OMIM:610189
Macular Dystrophy, Vitelliform, 1	Visual field defect, Reduced visual acuity, Visual impairment	OMIM:153840
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Horner Syndrome, Congenital	Congenital Horner syndrome, Heterochromia iridis	OMIM:143000
Infant Botulism	Mydriasis, Keratoconjunctivitis sicca	ORPHA:178478
Benign Schwannoma	Abnormality of the adrenal glands, Abnormality of the twelfth cranial nerve, Intestinal polyposis...	ORPHA:252164
Achromatopsia 7	Achromatopsia, Photophobia, Central scotoma, Reduced visual acuity, Hypoplasia of the fovea	OMIM:616517
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Photophobia, Microcornea, Developmental catara...	OMIM:604307
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 41	Nuclear cataract	OMIM:116400
Burn-Mckeown Syndrome	Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge	ORPHA:1200
Cataract 18	Nuclear cataract	OMIM:610019
Microtia, Hearing Impairment, And Cleft Palate	Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Increased incisura l...	OMIM:612290
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Visual Impairment And Progressive Phthisis Bulbi	Phthisis bulbi, Reduced visual acuity, Flat cornea, Hypermetropia	OMIM:618283
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Microphthalmia, Optic disc pallor	OMIM:613730
Gyrate Atrophy Of Choroid And Retina	Posterior subcapsular cataract, Visual impairment, Myopia, Blindness, Nyctalopia	OMIM:258870
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Anteverted nares, Depressed nasal ridge	ORPHA:1355
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ...	OMIM:617294
Tricho-Retino-Dento-Digital Syndrome	Juvenile cataract, Abnormality of retinal pigmentation	ORPHA:1264
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Supernumerary Nostril	Tessier cleft	ORPHA:141096
Nance-Horan Syndrome	Retinal detachment, Microcornea, Microphthalmia, Cataract	ORPHA:627
Joubert Syndrome 22	Intrauterine growth retardation, Microphthalmia, Retinal dysplasia, Coloboma	OMIM:615665
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Melena, Keratoconjunctivitis, Cataract, Opacification of the corneal ...	OMIM:158310
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Meckel Syndrome, Type 8	Short nose, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Depressed nasal...	OMIM:613885
X-Linked Neurodegenerative Syndrome, Hamel Type	Blindness	ORPHA:85336
Trisomy 13	Optic atrophy, Microphthalmia, Anophthalmia, Abnormal eyelash morphology, Abnormal retinal vascul...	ORPHA:3378
Neonatal Adrenoleukodystrophy	Optic atrophy, Ptosis, Abnormality of retinal pigmentation, Cataract	ORPHA:44
Herpes Simplex Virus Stromal Keratitis	Deep anterior chamber, Corneal stromal edema, Descemet Membrane Folds, Conjunctival hyperemia, He...	ORPHA:137599
Cavitary Optic Disc Anomalies	Visual field defect, Reduced visual acuity, Nyctalopia	OMIM:611543
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Steinfeld Syndrome	Microphthalmia, Bifid uvula, Median cleft palate, Aplasia of the nose	OMIM:184705
Cone-Rod Dystrophy, X-Linked, 1	Color vision defect, Photophobia, Reduced visual acuity, Myopia, Visual impairment, Nyctalopia	OMIM:304020
Stargardt Disease 3	Reduced visual acuity, Visual impairment	OMIM:600110
Crome Syndrome	Cerebellar dysplasia, Developmental cataract	OMIM:218900
Srd5A3-Cdg	Optic atrophy, Optic disc hypoplasia, Coloboma, Spotty hyperpigmentation, Cataract, Rod-cone dyst...	ORPHA:324737
Alport Syndrome 3A, Autosomal Dominant	Lenticonus, Anterior polar cataract	OMIM:104200
Biemond Syndrome Type 2	Coloboma, Microphthalmia, Hypogonadotropic hypogonadism, Hypogonadism	ORPHA:141333
Rodrigues Blindness	Microphthalmia, Sclerocornea, Microcornea	OMIM:268320
Macrophthalmia, Colobomatous, With Microcornea	Microcornea, Increased axial length of the globe, Shallow anterior chamber, Flat cornea, Choriore...	OMIM:602499
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Oculocerebrocutaneous Syndrome	Microphthalmia, Cleft palate, Orbital encephalocele, Anophthalmia	OMIM:164180
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Coloboma, Hirsutism, Unilateral microphthalmos, Simple ear	OMIM:619318
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Retinitis Pigmentosa 74	Posterior polar cataract	OMIM:616562
Juvenile Glaucoma	Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal arterial occlusion, Abn...	ORPHA:98977
Maxillonasal Dysplasia, Binder Type	Short nose, Depressed nasal bridge, Short columella	OMIM:155050
Usher Syndrome Type 1	Visual loss, Scotoma, Hemianopia, Iris hypopigmentation, Cataract, High hypermetropia, Nyctalopia	ORPHA:231169
Joubert Syndrome 15	Retinopathy, Coloboma, Exencephaly, Retinal dystrophy	OMIM:614464
Retinitis Pigmentosa 66	Constriction of peripheral visual field, Posterior subcapsular cataract, Central scotoma, Reduced...	OMIM:615233
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Pierre Robin Syndrome	Pierre-Robin sequence, Cleft palate, Glossoptosis	OMIM:261800
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Sorsby Fundus Dystrophy	Blindness	OMIM:136900
Cone Rod Dystrophy	Visual impairment, Color vision defect, Photophobia, Nyctalopia	ORPHA:1872
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares	ORPHA:2015
Walker-Warburg Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal dystrophy, Retinal detach...	ORPHA:899
Temporal Arteritis	Blindness	OMIM:187360
Microcephaly 6, Primary, Autosomal Recessive	Microtia	OMIM:608393
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Microphthalmia, Developmental cataract, Retinal dystrophy	OMIM:613155
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium	OMIM:619339
Corneal Dystrophy, Meesmann, 2	Recurrent corneal erosions	OMIM:618767
Retinitis Pigmentosa 20	Severely reduced visual acuity, Visual impairment, Nyctalopia	OMIM:613794
Bazex-Dupré-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Macrotia, Spars...	ORPHA:113
Enhanced S-Cone Syndrome	Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy	OMIM:268100
Smooth Muscle Dysfunction Syndrome	Retinal infarction, Mydriasis	OMIM:613834
Optic Atrophy 16	Color vision defect, Visual loss, Central scotoma, Mildly reduced visual acuity, Reduced visual a...	OMIM:620629
Retinitis Pigmentosa 80	Progressive visual loss, Blindness, Nyctalopia	OMIM:617781
Retinitis Pigmentosa 72	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b...	OMIM:616469
Gyrate Atrophy Of Choroid And Retina	Constriction of peripheral visual field, Progressive visual loss, Progressive night blindness, Su...	ORPHA:414
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Nyctalopia, Reduced visual acuity, Photophobia, Central scotoma	OMIM:616079
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type	Severely reduced visual acuity, Blindness	OMIM:309555
Retinitis Pigmentosa 27	Constriction of peripheral visual field, Reduced visual acuity, Visual impairment, Blindness, Nyc...	OMIM:613750
Prolonged Electroretinal Response Suppression 2	Difficulty adjusting to changes in luminance, Mildly reduced visual acuity, Reduced visual acuity...	OMIM:620344
Cataract 48	Cataract, Miosis	OMIM:618415
Retinitis Pigmentosa 18	Scotoma, Progressive visual field defects, Nyctalopia	OMIM:601414
Mmep Syndrome	Microphthalmia, Visual impairment	ORPHA:3434
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma, Blindness	OMIM:204850
Retinitis Pigmentosa 85	Progressive night blindness, Reduced visual acuity	OMIM:618345
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:614307
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Nail-Patella Syndrome	Microphakia, Ridged nail, Keratoconus, Microcornea, Cataract, Spina bifida, Antecubital pterygium...	OMIM:161200
Retinitis Pigmentosa 92	Constriction of peripheral visual field, Nyctalopia, Visual impairment, Paracentral scotoma	OMIM:619614
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Joubert Syndrome 23	Cerebellar dysplasia, Coloboma	OMIM:616490
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Microphthalmia, Generalized hypopigmentation, Microcornea, Colobom...	OMIM:617306
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Cleft upper lip, Cleft palate, Narrow mouth	OMIM:239800
Sjögren-Larsson Syndrome	Corneal erosion, Macular degeneration, Retinopathy, Abnormality of retinal pigmentation, Generali...	ORPHA:816
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Congenital Stationary Night Blindness	Color vision defect, Hypermetropia, Congenital stationary night blindness with normal fundus, Con...	ORPHA:215
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Cerebral Sclerosis, Diffuse, Scholz Type	Blindness	OMIM:302700
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal...	OMIM:608051
Usher Syndrome, Type Iiia	Visual field defect, Reduced visual acuity, Nyctalopia	OMIM:276902
Retinitis Pigmentosa 73	Constriction of peripheral visual field, Color vision defect, Central scotoma, Photopsia, Nyctalo...	OMIM:616544
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Frontofacionasal Dysplasia	Tessier cleft, Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1791
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177910
Retinitis Pigmentosa 60	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b...	OMIM:613983
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Lissencephaly 8	Optic atrophy, Microphthalmia, Cataract	OMIM:617255
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Focal Dermal Hypoplasia	Microphthalmia, Iris coloboma, Abnormality of the nail, Corneal opacity, Hypoplasia of the iris, ...	ORPHA:2092
Hemifacial Atrophy, Progressive	Microtia, Patchy alopecia, Poliosis	OMIM:141300
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Microcornea, Coloboma, Sclerocornea, Ectopia pupillae, Cataract	OMIM:615877
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Retinopathy, Cataract	OMIM:183800
Short Syndrome	Cataract, Rieger anomaly, Astigmatism, Megalocornea	OMIM:269880
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Microphthalmia, Coloboma, Abnormality of skin pigmentation, Cataract, Hypertrichosis	OMIM:612379
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Craniofacial-Deafness-Hand Syndrome	Short nose, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Hypoplasia of the maxil...	ORPHA:1529
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Posterior polar cataract	OMIM:117300
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Cone-Rod Dystrophy 24	Color vision defect, Scotoma, Photophobia, Pericentral scotoma, Reduced visual acuity, Myopia, Ny...	OMIM:620342
Macular Dystrophy, Retinal, 4	Reduced visual acuity, Nyctalopia	OMIM:619977
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly	OMIM:300706
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Leber Congenital Amaurosis 3	Constriction of peripheral visual field, Visual loss, Nyctalopia	OMIM:604232
Spinal Muscular Atrophy, Type I	Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:253300
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Retinitis Pigmentosa 37	Cystoid macular degeneration, Posterior subcapsular cataract, Nuclear cataract, Rod-cone dystroph...	OMIM:611131
Proteus-Like Syndrome	Retinal detachment, Heterochromia iridis, Cataract, Limbal dermoid, Abnormal pupil morphology	ORPHA:2969
Immunodeficiency 10	Hypoplasia of the iris	OMIM:612783
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus	ORPHA:2435
Albinism-Deafness Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom...	ORPHA:998
Warburg Micro Syndrome 1	Optic atrophy, Microphthalmia, Microcornea, Ptosis, Developmental cataract	OMIM:600118
Cone-Rod Dystrophy, X-Linked, 3	Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Ab...	OMIM:300476
Temtamy Syndrome	Microphthalmia, Chorioretinal coloboma, Telecanthus, Iris coloboma	ORPHA:1777
Orofacial Cleft 5	Cleft upper lip, Cleft palate	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft upper lip, Cleft palate	OMIM:608864
Orofacial Cleft 1	Cleft upper lip, Cleft palate	OMIM:119530
Trisomy 12P	Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the iris	ORPHA:1699
Pontocerebellar Hypoplasia, Type 4	Hypoplasia of the pons, Respiratory failure, Hypoplasia of the brainstem, Death in infancy	OMIM:225753
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris	ORPHA:169090
Retinitis Pigmentosa 3	Constriction of peripheral visual field, Color vision defect, Photophobia, High myopia, Reduced v...	OMIM:300029
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence	OMIM:300717
Night Blindness, Congenital Stationary, Type 1H	Mild myopia, Nyctalopia, Photophobia, Hypermetropia	OMIM:617024
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Microphthalmia, Optic disc coloboma, Iris coloboma	OMIM:169550
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced visual acuity, Blindness	OMIM:601553
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Holoprosencephaly 13, X-Linked	Duodenal atresia, Optic nerve hypoplasia, Median cleft palate, Septo-optic dysplasia, Micrognathi...	OMIM:301043
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Posterior embryotoxon	OMIM:617992
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela...	ORPHA:2885
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:277580
Galloway-Mowat Syndrome 1	Optic atrophy, Microphthalmia, Small nail, Hypopigmentation of the skin, Hypoplasia of the iris, ...	OMIM:251300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Microphthalmia, Astigmatism, Corneal neovascularization, Polycoria, Microcornea,...	OMIM:175780
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal dystrophy, Atten...	OMIM:617547
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma	ORPHA:1643
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate	OMIM:172880
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Anterior polar cataract	OMIM:620510
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Reduced visual acuity, Blindness, Progressive visual loss	OMIM:204200
Meier-Gorlin Syndrome 8	Microtia, Low-set ears	OMIM:617564
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Bulbous nose	ORPHA:411986
Combined Oxidative Phosphorylation Deficiency 51	Respiratory failure, Focal T2 hyperintense thalamic lesion, Neonatal respiratory distress	OMIM:619057
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal retinal morphology	ORPHA:2786
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Retinal detachment, Rieger anomaly, Primary congenital glaucoma, Buphthalmos	ORPHA:521445
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Sclerocornea, Anophthalmia, Iris coloboma	ORPHA:77298
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract	ORPHA:2714
Isolated Pierre Robin Syndrome	Cleft palate, Glossoptosis	ORPHA:718
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Color vision defect, Photophobia, Progressive visual los...	OMIM:613660
X-Linked Intellectual Disability, Miles-Carpenter Type	Microcornea	ORPHA:85283
Serotonin Syndrome	Mydriasis	ORPHA:43116
Otodental Syndrome	Microphthalmia, Microcornea, Retinal coloboma, Lens coloboma, Cataract, Iris coloboma	ORPHA:2791
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Nance-Horan Syndrome	Microphthalmia, Posterior Y-sutural cataract, Developmental cataract, Microcornea	OMIM:302350
Zika Virus Disease	Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Conjunctivitis, Abs...	ORPHA:448237
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Hypopigmentation of the skin, Abs...	ORPHA:89838
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft upper lip, Cleft palate	OMIM:106250
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Astigmatism, Sparse lateral eyebrow, Long palpebral fissure, Cataract, Upslanted ...	OMIM:619694
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Posterior subcapsular cataract, Microcornea, Chorioretinal degeneration	OMIM:615458
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir...	ORPHA:895
Exudative Vitreoretinopathy 4	Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme...	OMIM:601813
Mucolipidosis Iv	Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity	OMIM:252650
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f...	ORPHA:85128
Retinitis Pigmentosa 11	Constriction of peripheral visual field, Reduced visual acuity, Blindness, Nyctalopia	OMIM:600138
Fleck Retina, Familial Benign	Visual impairment, Nyctalopia	OMIM:228980
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79431
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Microphthalmia, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Microphthalmia, Coloboma, Retinal atrophy, Corneal opacity, Cone/cone-rod dystr...	ORPHA:85167
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:611722
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, High myopia, Progressive night blindness, Paracentral sc...	OMIM:210370
Macular Dystrophy, Retinal, 1, North Carolina Type	Dyschromatopsia, Reduced visual acuity, Central scotoma	OMIM:136550
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Cone-Rod Dystrophy 21	Reduced visual acuity, Photophobia, Nyctalopia	OMIM:616502
Non-Distal Duplication 10Q	Convex nasal ridge, Short nose, Aplasia/Hypoplasia affecting the eye, Depressed nasal bridge	ORPHA:1695
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Retinal capillary hemangioma, Aniridia	ORPHA:29072
Phenylketonuria	Cataract, Generalized hypopigmentation, Blue irides, Fair hair	OMIM:261600
Cat-Eye Syndrome (Type I)	Iris coloboma	DECIPHER:42
Cockayne Syndrome B	Optic atrophy, Normal pressure hydrocephalus, Microphthalmia, Death in childhood, Abnormal hair m...	OMIM:133540
Nephronophthisis 11	Retinal degeneration, Anisocoria	OMIM:613550
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula...	OMIM:133780
Wilson-Turner Syndrome	Microtia, Thick eyebrow, Hypogonadotropic hypogonadism	ORPHA:3459
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Deafness, X-Linked 7	Stenosis of the external auditory canal, Unilateral microphthalmos, Hearing impairment, Atresia o...	OMIM:301018
Retinal Capillary Malformation	Progressive visual loss, Photopsia, Vitreous floaters, Paracentral scotoma, Reduced visual acuity...	ORPHA:71213
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 1	Reduced visual acuity, Central scotoma	OMIM:619382
Retinitis Pigmentosa 1	Constriction of peripheral visual field, Scotoma, Reduced visual acuity, Myopia, Nyctalopia	OMIM:180100
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Corneal dystrophy, Microcornea, Abnormality of vision, Blindness, Sclerocornea, C...	ORPHA:1806
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract	ORPHA:85288
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Co...	ORPHA:2788
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares	ORPHA:1450
Migraine, Familial Hemiplegic, 3	Blindness, Photophobia	OMIM:609634
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microphthalmia, Microcornea	ORPHA:48431
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype...	ORPHA:189
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Anonychia With Flexural Pigmentation	Macular telangiectasia, Hypermelanotic macule, Alopecia of scalp, Abnormal hair morphology, Anony...	ORPHA:69125
Frontonasal Dysplasia 1	Microphthalmia, Coloboma, Anterior basal encephalocele, Cataract, Cranium bifidum occultum, Widow...	OMIM:136760
Fundus Albipunctatus	Fundus albipunctatus, Nyctalopia	OMIM:136880
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:616081
Retinitis Pigmentosa 68	Visual field defect, Reduced visual acuity, Nyctalopia	OMIM:615725
Blue Cone Monochromacy	Photophobia, Reduced visual acuity, Blue cone monochromacy, Myopia, Visual impairment	OMIM:303700
Focal Dermal Hypoplasia	Nail dysplasia, Nail dystrophy, Microphthalmia, Aniridia, Ridged nail, Hypopigmentation of the sk...	OMIM:305600
Microtia	Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog...	ORPHA:83463
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Posterior uveitis, Anterior chamber cells, Depigmented fun...	ORPHA:79098
Arthrogryposis, Distal, Type 5	Astigmatism, Keratoglobus, Keratoconus, Ptosis, Abnormality of retinal pigmentation, Epicanthus, ...	OMIM:108145
Hydrolethalus	Gingival cleft, Microphthalmia, Anencephaly, Anophthalmia, Bifid uvula, Cleft palate, Unilateral ...	ORPHA:2189
Cleft Palate-Lateral Synechia Syndrome	Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia	ORPHA:2016
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Anterior polar cataract	OMIM:250420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe, Hydrocephalus, Coloboma, Cataract, Retinal degeneration	OMIM:615249
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Respiratory insuf...	OMIM:611890
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Developmental cataract, Corneal opacity	OMIM:618815
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Retinal Cone Dystrophy 3A	Photophobia, Dyschromatopsia, High myopia, Reduced visual acuity, Nyctalopia	OMIM:610024
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:616531
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Ro...	OMIM:300578
Branchiootic Syndrome 1	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf...	OMIM:602588
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti...	OMIM:609033
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven...	OMIM:172800
Night Blindness, Congenital Stationary, Type 1F	Congenital stationary night blindness, High myopia, Reduced visual acuity, Nyctalopia	OMIM:615058
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Retinitis Pigmentosa 63	Nyctalopia, Blurred vision	OMIM:614494
Tritanopia	Reduced visual acuity, Tritanomaly, Color vision test abnormality, Photophobia	ORPHA:88629
Familial Adenomatous Polyposis	Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod...	ORPHA:733
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Alopecia, Mixed hypo- and hyperpigmentatio...	ORPHA:79397
Ectopia Lentis 1, Isolated, Autosomal Dominant	Retinal detachment, Ectopia lentis, Shallow anterior chamber, Microspherophakia	OMIM:129600
Retinitis Pigmentosa 17	Color vision defect, Photophobia, Nyctalopia	OMIM:600852
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Occipital encephalocele, Microphthalmia, Retinal detachment, Optic nerve hypoplasi...	ORPHA:370959
Cleft Palate, Isolated	Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite	OMIM:119540
Elejalde Neuroectodermal Melanolysosomal Syndrome	Death in childhood, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentatio...	OMIM:256710
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Retinal thinning, Macular dots, Astigmatism, Macular deg...	OMIM:270200
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Facial palsy, Sali...	ORPHA:79493
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Temtamy Syndrome	Microphthalmia, Highly arched eyebrow, Lens luxation, Ectopia lentis, Downslanted palpebral fissu...	OMIM:218340
Kniest Dysplasia	Aplasia/Hypoplasia of the lens, Retinal detachment, Lens luxation, Vitreoretinopathy, Lattice ret...	ORPHA:485
Xeroderma Pigmentosum Variant	Keratitis, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the ...	ORPHA:90342
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Cone-Rod Dystrophy 2	Constriction of peripheral visual field, Color vision defect, Central scotoma, Peripheral visual ...	OMIM:120970
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Microphthalmia, Astigmatism, Ectopia pupillae, Cataract	OMIM:618727
Abruzzo-Erickson Syndrome	Coloboma, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:921
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Hypoplasia of the brainstem, Decreased thalamic volume	OMIM:613668
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
3-Hydroxyisobutyric Aciduria	Microtia, Hypogonadotropic hypogonadism	ORPHA:939
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Retinopathy, Pigmentary retinopathy	OMIM:610951
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus	OMIM:620058
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges	Prominent nose, High palate, Prominent nasal bridge, Underdeveloped nasal alae	OMIM:106995
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Catar...	OMIM:615986
Mosaic Trisomy 14	Aplasia/Hypoplasia affecting the eye, Microtia, Low-set, posteriorly rotated ears	ORPHA:1703
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ...	OMIM:614170
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
Neurocutaneous Melanocytosis	Meningocele, Death in infancy, Abnormality of retinal pigmentation, Generalized hirsutism, Chorio...	ORPHA:2481
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Abnormal vitreous humor morphol...	ORPHA:649
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Mandibulofacial Dysostosis-Microcephaly Syndrome	Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdeveloped tragus, A...	ORPHA:79113
X-Linked Immunoneurologic Disorder	Cataract, Nyctalopia	ORPHA:2571
Cataract 31, Multiple Types	Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract	OMIM:605387
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Microphthalmia, Retinal dysplasia	OMIM:614830
Insulin-Like Growth Factor I, Resistance To	Highly arched eyebrow, Sparse scalp hair, Synophrys, Rieger anomaly, Thick eyebrow, Intrauterine ...	OMIM:270450
Otodental Dysplasia	Coloboma, Delayed eruption of teeth	OMIM:166750
Lethal Osteosclerotic Bone Dysplasia	Respiratory failure, Short nose, Anteverted nares, Depressed nasal ridge	ORPHA:1832
Alazami-Yuan Syndrome	Low hanging columella, High palate, Prominent nasal bridge, Prominent nose, Underdeveloped nasal ...	OMIM:617126
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Coloboma, Low-set ears, Sparse eyebrow, Widow's peak, Cupped ear	OMIM:167730
Chromosome 3Q29 Duplication Syndrome	Short nose, Bulbous nose, Wide nasal bridge, Abnormally large globe	OMIM:611936
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification	OMIM:608189
Joubert Syndrome 16	Coloboma, Encephalocele, Retinal dystrophy	OMIM:614465
Spondylometaphyseal Dysplasia, X-Linked	Respiratory insufficiency, Anteverted nares, Respiratory failure, Wide nasal bridge, Depressed na...	OMIM:313420
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Cerebrooculofacioskeletal Syndrome 2	Cataract, Microphthalmia, Developmental cataract	OMIM:610756
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
17Q21.31 Microduplication Syndrome	Anteverted nares, Short nose	ORPHA:217340
Craniofacial-Deafness-Hand Syndrome	Short nose, Narrow naris, Depressed nasal bridge	OMIM:122880
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:613869
Retinitis Pigmentosa 69	Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:615780
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Cholelithiasis, Hepatocellular carc...	ORPHA:65682
Dubowitz Syndrome	Microphthalmia, Sparse scalp hair, Megalocornea, Hypoplasia of the iris, Sparse lateral eyebrow, ...	OMIM:223370
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Neurofibroma	Peripheral nerve compression, Peripheral schwannoma, Spinal neurofibroma, Enlarged peripheral ner...	ORPHA:252183
Multiple Sulfatase Deficiency	Optic atrophy, Corneal opacity, Abnormality of retinal pigmentation, Thick eyebrow, Cataract, Abn...	ORPHA:585
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Abnormality of retinal pigmentation	ORPHA:3085
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Telecanthus, Coloboma, Abnormal eyelash morphology, Cor...	ORPHA:2399
Baraitser-Winter Syndrome 2	Microphthalmia, Highly arched eyebrow, Abnormal pinna morphology, Coloboma, Hearing impairment	OMIM:614583
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar ...	ORPHA:101070
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
Macular Dystrophy, Patterned, 1	Metamorphopsia, Reduced visual acuity, Photophobia, Nyctalopia	OMIM:169150
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Microtia	OMIM:612138
Kid Syndrome	Corneal neovascularization, Corneal erosion, Limbal stem cell deficiency, Punctate keratitis, Ker...	ORPHA:477
Cone-Rod Dystrophy 13	Visual impairment, Color vision defect, Reduced visual acuity, Photophobia	OMIM:608194
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Mixed astigmatism, Bone spicule pigmentation of the retina,...	OMIM:617023
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Mydriasis, Optic disc pallor	OMIM:259720
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Fusion of the left and right thalami	OMIM:617542
Spinocerebellar Ataxia, Autosomal Recessive 29	Peripheral axonal neuropathy, Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Underdeveloped nasal alae, High palate, Depressed nasal bridge, Delayed eruption of teeth	ORPHA:2025
Cone Dystrophy 4	Visual impairment, Reduced visual acuity, Photophobia, Dyschromatopsia	OMIM:613093
Ring Chromosome 14 Syndrome	Almond-shaped palpebral fissure, Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Pi...	OMIM:616606
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Retinal thinning, Microphthalmia, Abnormality of macular pigmentation, Retinal atrophy, Corneal o...	OMIM:608940
Johnson Neuroectodermal Syndrome	Absent eyelashes, Microtia, Multiple cafe-au-lait spots, Absent eyebrow, Atresia of the external ...	ORPHA:2316
Retinoblastoma	Retinoblastoma, Retinal calcification, Leukocoria, Vitreous hemorrhage, Vitritis	OMIM:180200
Refsum Disease	Microphthalmia, Retinopathy, Ptosis, Abnormality of retinal pigmentation, Cataract	ORPHA:773
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Low-set ears	OMIM:616570
Optic Atrophy 12	Abnormal Ishihara plate test, Reduced visual acuity, Photophobia, Dyschromatopsia	OMIM:618977
Bresek Syndrome	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Alopecia, Neonatal death, Intrauterine gro...	ORPHA:85284
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormal palate morphology, Spina bifida occulta, Abnormality of the dentition, To...	ORPHA:1786
Familial Dysautonomia	Optic atrophy, Corneal erosion, Corneal opacity, Heterochromia iridis, Abnormal pupil morphology	ORPHA:1764
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma, Umbilical hernia	ORPHA:2196
Retinitis Pigmentosa 19	Constriction of peripheral visual field, Reduced visual acuity, Visual impairment, Nyctalopia	OMIM:601718
Retinitis Pigmentosa 76	Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C...	OMIM:617123
Absent Eyebrows And Eyelashes With Mental Retardation	Convex nasal ridge, Short nose	OMIM:200130
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Microtia, Low posterior hairline, Synophrys, Abnormal hair pat...	ORPHA:2983
Hypomelanosis Of Ito	Cataract, Iris coloboma, Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling	OMIM:551500
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the fundus, Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea, Iris coloboma	ORPHA:2611
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly	OMIM:207770
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Retinitis Pigmentosa	Constriction of peripheral visual field, Nyctalopia	OMIM:268000
Oculocerebral Syndrome With Hypopigmentation	Hypopigmentation of the skin, Silver-gray hair	OMIM:257800
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic disc ...	OMIM:268315
Leber Congenital Amaurosis 14	Congenital blindness, Reduced visual acuity, Photophobia, Nyctalopia	OMIM:613341
Variant Abeta2M Amyloidosis	Abnormal salivary gland morphology, Amyloidosis of peripheral nerves, Abnormal autonomic nervous ...	ORPHA:314652
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Downslanted palpebral fissures, Epicanthus, Cataract, Retinal pigment epithelial ...	OMIM:614105
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Retinitis Pigmentosa 7	Constriction of peripheral visual field, Adult-onset night blindness, Nyctalopia	OMIM:608133
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Posterior embryotoxon, Anterior polar cataract, Hypoplasia of the iris	OMIM:619194
Retinitis Pigmentosa 79	Constriction of peripheral visual field, Reduced visual acuity, Photophobia, Nyctalopia	OMIM:617460
Pierpont Syndrome	Microphthalmia, Microcornea	ORPHA:487825
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Subcapsular cataract, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:268020
Pituitary Apoplexy	Mydriasis	ORPHA:95613
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Craniotelencephalic Dysplasia	Visual impairment, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Zechi-Ceide Syndrome	Abnormal earlobe morphology, Thick hair, Small nail, Stenosis of the external auditory canal, Mic...	ORPHA:217017
Vici Syndrome	Optic atrophy, Hypopigmentation of the skin, Death in infancy, Abnormality of retinal pigmentatio...	ORPHA:1493
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Mandibulofacial Dysostosis With Alopecia	Stenosis of the external auditory canal, Microtia, Low-set ears, Sparse eyelashes, Conductive hea...	OMIM:616367
Macular Degeneration, Atrophic, X-Linked	Reduced visual acuity	OMIM:300834
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Microphthalmia, Decreased nerve conduction velocity, Cataract, Freckling, Pigmenta...	OMIM:610651
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Microtia	OMIM:618158
Intellectual Developmental Disorder, X-Linked 91	Short nose	OMIM:300577
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract	OMIM:620425
Cataract 15, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:611391
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Pterygium Colli, Isolated	Short nose	OMIM:177990
Immunodeficiency 95	Respiratory failure, Recurrent viral upper respiratory tract infections	OMIM:619773
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Mend Syndrome	Cataract, Macular hypoplasia, Anterior polar cataract	OMIM:300960
Ramon Syndrome	Abnormal anterior chamber morphology, Abnormality of retinal pigmentation	ORPHA:3019
Microtia With Meatal Atresia And Conductive Deafness	Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear	OMIM:251800
Oculotrichoanal Syndrome	Microphthalmia, Bifid nasal tip, Anophthalmia	ORPHA:2717
Macular Dystrophy, Vitelliform, 3	Color vision defect, Photophobia, Reduced visual acuity, Metamorphopsia, Visual impairment	OMIM:608161
Retinitis Pigmentosa 54	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613428
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo...	ORPHA:894
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Anterior polar cataract	OMIM:619575
Chromosome 22Q11.2 Deletion Syndrome, Distal	Intrauterine growth retardation, Cleft palate, Malar flattening, Underdeveloped nasal alae	OMIM:611867
Classic Phenylketonuria	Cataract, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:79254
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hypopigmentation of hair, I...	ORPHA:999
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Hypoplasia of the brainstem, Decreased thalamic volume	OMIM:619072
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Microtia, Hirsutism, Low-set ears, Synophrys	ORPHA:357175
Pierpont Syndrome	Microphthalmia, Telecanthus, Microcornea, Unilateral narrow palpebral fissure, Narrow palpebral f...	OMIM:602342
Curry-Jones Syndrome	Hypopigmented skin patches, Microphthalmia, Generalized hirsutism, Optic disc coloboma, Iris colo...	ORPHA:1553
Retinitis Pigmentosa 61	Visual impairment, Nyctalopia	OMIM:614180
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple...	ORPHA:2470
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Blindness	ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia, Developmental cataract, Posterior synechiae of the anterior cha...	OMIM:613154
Retinitis Pigmentosa	Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Keratocon...	ORPHA:791
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Waardenburg Syndrome, Type 3	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Synophrys, White for...	OMIM:148820
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Cataract	OMIM:620461
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia, Anisocoria, Miosis, Cataract, Abnormal pupil shape, Slow pupillary light ...	ORPHA:45358
Joubert Syndrome 36	Anteverted nares, Molar tooth sign on MRI	OMIM:618763
Albinism, Oculocutaneous, Type Ia	Astigmatism, Hypopigmentation of hair, Ocular albinism, White hair, Hypoplasia of the fovea, Albi...	OMIM:203100
Parenti-Mignot Neurodevelopmental Syndrome	Microtia, Low-set ears, Synophrys, Posteriorly rotated ears, Cupped ear	OMIM:619873
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus	OMIM:144300
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Long-Olsen-Distelmaier Syndrome	Cataract, Optic nerve hypoplasia, Death in childhood, Microspherophakia	OMIM:620609
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Mydriasis, Optic nerve compression, Optic neuropathy	OMIM:619727
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Vacterl Association With Hydrocephalus	Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Hydrocephalus, Respiratory failure	OMIM:276950
Optic Atrophy 15	Dyschromatopsia, Reduced visual acuity, Photophobia, Central scotoma	OMIM:620583
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Holoprosencephaly 1	Microphthalmia, Proboscis, Median cleft palate, Aplasia of the nose	OMIM:236100
Albinism-Deafness Syndrome	Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism	OMIM:300700
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure	OMIM:618328
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Developmental And Epileptic Encephalopathy 35	Cataract	OMIM:616647
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Amyotrophic lateral sclerosis	OMIM:613435
Autism, Susceptibility To, X-Linked 6	Underdeveloped nasal alae	OMIM:300872
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Poretti-Boltshauser Syndrome	Cerebellar vermis hypoplasia, Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia	OMIM:615960
Leukodystrophy, Hypomyelinating, 14	Blindness	OMIM:617899
Carey-Fineman-Ziter Syndrome 2	High, narrow palate, Abnormal nasal septum morphology, Anteverted nares, Velopharyngeal insuffici...	OMIM:619941
Retinitis Pigmentosa 38	Constriction of peripheral visual field, Progressive visual loss, Nyctalopia	OMIM:613862
Humero-Radial Synostosis	Aplasia/Hypoplasia affecting the eye, Chorioretinal coloboma, Iris coloboma	ORPHA:3265
Monilethrix	Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo...	ORPHA:573
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Microphthalmia, Astigmatism, Broad eyebrow, Ptosis, Chorioretinal coloboma, Epican...	ORPHA:494344
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuro...	ORPHA:2590
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Microphthalmia	ORPHA:93267
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Retinal detachment, Long palpebral fissure, Epicanthus, Cataract, Hypopigmentatio...	ORPHA:163649
Adams-Oliver Syndrome 2	Optic atrophy, Narrow palpebral fissure, Microphthalmia, Developmental cataract	OMIM:614219
Gist-Plus Syndrome	Intussusception, Intestinal polyposis, Gastrointestinal stroma tumor	OMIM:175510
Neurotrophic Keratopathy	Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr...	ORPHA:137596
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microtia, Microphthalmia	ORPHA:2547
Cone Dystrophy 3	Reduced visual acuity, Progressive visual loss, Photophobia	OMIM:602093
Intellectual Developmental Disorder, Autosomal Recessive 35	Microtia, Hirsutism, Low-set ears, Synophrys	OMIM:615162
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:615434
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Single naris, Anophthalmia, Hyposmia, Anosmia, Absent nares	ORPHA:2250
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Ptosis, Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Coxoauricular Syndrome	Hearing impairment, Microtia, Atresia of the external auditory canal	ORPHA:1508
Arachnoid Cyst	Mydriasis	ORPHA:2356
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Aplasia of the nose	ORPHA:3186
Clouston Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Hyperpigmentation of...	OMIM:129500
Potocki-Shaffer Syndrome	Depressed nasal tip, Micrognathia, Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal ...	ORPHA:52022
Congenital Toxoplasmosis	Hydrocephalus, Microphthalmia, Abnormality of retinal pigmentation, Intrauterine growth retardation	ORPHA:858
Oculofaciocardiodental Syndrome	Microphthalmia, Retinal detachment, Highly arched eyebrow, Microcornea, Ptosis, Ectopia lentis, C...	ORPHA:2712
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Conductive hearing impairment, Microtia	OMIM:248910
Warburg-Cinotti Syndrome	Limbal stem cell deficiency, Corneal neovascularization, Symblepharon, Decreased corneal thickness	OMIM:618175
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Retinal coloboma, Horizontal eyebrow, Epicanthus, Cataract, Narrow p...	OMIM:618571
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Respiratory failure, Fatigable weakness of skeletal muscles, Abnormal ...	ORPHA:370968
Nemaline Myopathy 8	Respiratory failure, Death in infancy	OMIM:615348
Tubulinopathy-Associated Dysgyria	Hypoplasia of the pons, Abnormal thalamus morphology, Abnormal brainstem morphology	ORPHA:467166
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Corneal crystals, Retinal pigment epithelial mottling	OMIM:219900
Neurooculocardiogenitourinary Syndrome	Coloboma, Peters anomaly, Microphthalmia	OMIM:618652
Treacher-Collins Syndrome	Tessier cleft, Microphthalmia, Rectovaginal fistula, Encephalocele, Abnormal dental enamel morpho...	ORPHA:861
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cataract, Microphthalmia	OMIM:301108
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Acrocephalopolydactyly	Microtia	ORPHA:221054
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Usher Syndrome, Type Iid	Nyctalopia	OMIM:611383
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal retinal ...	ORPHA:2715
Charcot-Marie-Tooth Disease Type 1E	Tonic pupil, Abnormal pupil morphology, Slow pupillary light response, Anisocoria	ORPHA:90658
Whistling Face Syndrome, Recessive Form	Trismus, High palate, Micrognathia, Prominent nasal bridge, Malar flattening, Microglossia, Under...	OMIM:277720
Retinitis Pigmentosa 70	Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:615922
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Respiratory failure, Atrophy/Degeneration affecting the brainstem, Death in infancy	OMIM:616277
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Sparse eyelashes, Conductive hearing impairment, Microtia, Atresia of the external auditory canal	OMIM:300946
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Anisocoria	OMIM:231550
Retinitis Pigmentosa 90	Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:619007
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin, Spotty hypo...	ORPHA:79399
Micro Syndrome	Optic atrophy, Microphthalmia, Microcornea, Retinal coloboma, Abnormality of retinal pigmentation...	ORPHA:2510
Ermine Phenotype	White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Knobloch Syndrome 1	Iris transillumination defect, Retinal detachment, Band keratopathy, Chorioretinal atrophy, Vitre...	OMIM:267750
Bickerstaff Brainstem Encephalitis	Mydriasis, Anisocoria	ORPHA:79138
Coach Syndrome 2	Hydrocephalus, Coloboma, Chorioretinal coloboma	OMIM:619111
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation	ORPHA:67048
6Q16 Microdeletion Syndrome	Low-set ears, Microtia, Thick eyebrow, Abnormal ear morphology	ORPHA:171829
Warburg Micro Syndrome 4	Optic atrophy, Microphthalmia, Microcornea, Ptosis, Developmental cataract, Decreased motor nerve...	OMIM:615663
Short Stature And Facioauriculothoracic Malformations	Microtia, Low-set ears, Overfolded helix, Cupped ear	OMIM:609654
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Respiratory failure, Fatiguable weakness of p...	ORPHA:90117
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Night Blindness, Congenital Stationary, Type 1E	Congenital stationary night blindness, High myopia, Reduced visual acuity, Visual impairment	OMIM:614565
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Van Der Woude Syndrome 1	Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit	OMIM:119300
Meckel Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Anencephaly, Encephalocele, Ano...	ORPHA:564
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Bardet-Biedl Syndrome 21	Constriction of peripheral visual field, Myopia, Hypoplasia of the fovea, Blindness	OMIM:617406
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Respiratory failure, Neonatal death, Wide nasal bridge	OMIM:610127
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Hydranencephaly	OMIM:617967
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Optic atrophy, Microphthalmia, Small nail, ...	OMIM:234050
Warburg Micro Syndrome 3	Optic atrophy, Microphthalmia, Microcornea, Shallow anterior chamber, Developmental cataract, Cat...	OMIM:614222
Choroidal Atrophy-Alopecia Syndrome	Supernumerary nipple, Sparse or absent eyelashes, Patchy atrophy of the retinal pigment epitheliu...	ORPHA:1433
Waardenburg-Shah Syndrome	Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, Telecanthus, Synophry...	ORPHA:897
Flynn-Aird Syndrome	Cataract, Alopecia of scalp, Rod-cone dystrophy, Alopecia	OMIM:136300
Weiss-Kruszka Syndrome	Hypoplastic fingernail, Highly arched eyebrow, Microtia, Low-set ears, Hearing impairment, Horizo...	OMIM:618619
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Abnormal peripheral nerve morphology by anatomical site,...	ORPHA:88628
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Blindness	ORPHA:2787
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Respiratory failure	ORPHA:266
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Achromatopsia 2	Achromatopsia, Photophobia, Myopic astigmatism, Hemeralopia, Hypoplasia of the fovea, Reduced vis...	OMIM:216900
Wolfram Syndrome 1	Optic atrophy, Ptosis, Cataract, Pigmentary retinopathy	OMIM:222300
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Peripheral axonal neuropathy, Pigmentary retinopathy	OMIM:619090
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Corneal opacity, Atrichia, Congenital ab...	ORPHA:1867
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Rod-cone dystrophy, Epicanthus, Pigmentary retinopathy	OMIM:264470
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Hepatic fibrosis, Hepatic steatosis,...	OMIM:603471
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Marfan Syndrome	Congestive heart failure, Astigmatism, Aortic regurgitation, Microspherophakia, Increased axial l...	OMIM:154700
Familial Adenomatous Polyposis 3	Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl...	OMIM:616415
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Cone-Rod Dystrophy 20	Constriction of peripheral visual field, Tritanomaly, Central scotoma, High myopia, Reduced visua...	OMIM:615973
Retinitis Pigmentosa 96	Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:620228
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Alternating Hemiplegia Of Childhood	Mydriasis	ORPHA:2131
Boomerang Dysplasia	Hypoplastic nasal septum, Neonatal death, Wide nasal bridge, Underdeveloped nasal alae	OMIM:112310
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Hepatomegaly, Pancreatitis	ORPHA:79084
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Bifid nasal tip, Broad nasal tip, Anophthalmia	OMIM:248450
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
9q subtelomeric deletion syndrome	Short nose, Anteverted nares	DECIPHER:52
Brittle Cornea Syndrome 1	Keratoconus, Decreased corneal thickness, Abnormal cornea morphology, Keratoglobus	OMIM:229200
Marfan Syndrome	Congestive heart failure, Abnormal left ventricular function, Aortic regurgitation, Lens luxation...	ORPHA:558
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Macular Dystrophy With Central Cone Involvement	Central scotoma, High myopia, Red-green dyschromatopsia, Reduced visual acuity, Visual impairment	OMIM:616170
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Generalized hypopigmentation, White hair, Iris hypopigmentation, Cataract, Ocular ...	ORPHA:2720
Joint Laxity, Short Stature, And Myopia	Retinal detachment, Chorioretinal coloboma, Iris coloboma	OMIM:617662
Developmental And Epileptic Encephalopathy 73	Short nose, Narrow nasal bridge	OMIM:618379
Developmental Delay, Dysmorphic Facies, And Brain Anomalies	Low-set ears, Microtia, Thick eyebrow	OMIM:620535
Hurler-Scheie Syndrome	Corneal opacity	ORPHA:93476
Chromosome 8Q21.11 Deletion Syndrome	Short palpebral fissure, Microphthalmia, Ptosis, Downslanted palpebral fissures, Sclerocornea, Ep...	OMIM:614230
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Depressed nasal ridge, Depressed nasal bridge, Short col...	ORPHA:1248
Microphthalmia With Limb Anomalies	Short nose, Retrognathia, Microphthalmia, Anophthalmia, Flared nostrils, High palate, Cleft palat...	OMIM:206920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Occipital encephalocele, Microphthalmia, Retinal dysplasia, Retinal detachment, Op...	OMIM:236670
Joubert Syndrome 40	Optic nerve hypoplasia, Molar tooth sign on MRI, Depressed nasal bridge	OMIM:619582
Harel-Yoon Syndrome	Developmental cataract, Corneal opacity	OMIM:617183
Oculocerebrocutaneous Syndrome	Tessier cleft, Orofacial cleft, Wide mouth	ORPHA:1647
Dermatitis, Atopic	Cataract, Keratoconus, Conjunctivitis	OMIM:603165
Gastrointestinal Stromal Tumor	Esophageal neoplasm, Neoplasm of the stomach, Intestinal obstruction, Neoplasm of the rectum, Neo...	ORPHA:44890
Alagille Syndrome	Keratoconus, Corneal dystrophy, Abnormal pupil morphology	ORPHA:52
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Retinal Cone Dystrophy 4	Constriction of peripheral visual field, Reduced visual acuity, Photophobia, Visual impairment	OMIM:610478
Crouzon Syndrome	Hypopigmented skin patches, Optic atrophy, Hydrocephalus, Melanocytic nevus, Conjunctivitis, Iris...	ORPHA:207
Weiss-Kruszka Syndrome	Short nose, Prominent nasal tip	ORPHA:502430
Isotretinoin Syndrome	Microtia, Abnormality of the outer ear, Hypoplastic toenails	ORPHA:2305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Persistent pupillary membrane, Cataract, Buphthalmos, Peters anomaly	OMIM:613150
Fanconi Anemia, Complementation Group J	Intrauterine growth retardation, Microphthalmia, Multiple cafe-au-lait spots	OMIM:609054
Mulibrey Nanism	Corneal dystrophy, Astigmatism, Pigmentary retinopathy, Iris coloboma	OMIM:253250
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Cholangitis, Cholelithiasis, Sclerosing cholangitis, Live...	ORPHA:69663
Holoprosencephaly 3	Abnormality of the nose, Single naris, Proboscis, Depressed nasal bridge, Short columella	OMIM:142945
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Abnormal palate morphology, Microphthalmia, Hypodontia, Lip pit	ORPHA:1236
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge	ORPHA:438178
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, D...	ORPHA:370022
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Stenosis of the external au...	OMIM:606164
Alg3-Cdg	Cataract, Neural tube defect, Hypopigmentation of the skin	ORPHA:79321
Pigmented Paravenous Chorioretinal Atrophy	Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina	OMIM:172870
Papillorenal Syndrome	Microphthalmia, Retinal detachment, Macular degeneration, Chorioretinal atrophy, Lens luxation, O...	OMIM:120330
Phace Association	Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Developmental cataract, Increased retinal ...	OMIM:606519
Microtia-Anotia	Microtia, Anotia	OMIM:600674
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract	OMIM:615352
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Microtia, Abnormality of the middle ear, Conductive hearing im...	ORPHA:246
Joubert Syndrome 14	Optic atrophy, Microphthalmia, Encephalocele, Meningocele, Highly arched eyebrow, Hydrocephalus, ...	OMIM:614424
Usher Syndrome Type 2	Visual loss, Scotoma, Hemianopia, Iris hypopigmentation, Cataract, Myopia, Nyctalopia	ORPHA:231178
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nose, Abnormal nasal bone morphology, Bifid nasal tip, Choanal atresia, Intrauterine growth ...	ORPHA:521308
Constricting Bands, Congenital	Tessier cleft, Cleft upper lip, Cleft palate, Encephalocele	OMIM:217100
Fg Syndrome 5	Short nose, Anteverted nares, Depressed nasal bridge	OMIM:300581
Hemifacial Microsomia With Radial Defects	Atresia of the external auditory canal, Conductive hearing impairment, Microtia	OMIM:141400
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F...	OMIM:203300
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Wildervanck Syndrome	Lens subluxation, Facial palsy, Pseudopapilledema	ORPHA:3456
Griscelli Syndrome Type 2	Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:79477
Perlman Syndrome	Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly	ORPHA:2849
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology	ORPHA:397725
Bothnia Retinal Dystrophy	Nyctalopia	OMIM:607475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Microphthalmia, Retinal dystrophy	OMIM:616538
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Eem Syndrome	Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation, Absent eyebrow	ORPHA:1897
Mosaic Trisomy 9	Tessier cleft, Microphthalmia, High palate, Spina bifida, Intestinal malrotation, Cleft palate	ORPHA:99776
Cockayne Syndrome Type 2	Developmental cataract, Uveitis, Anophthalmia, Conjunctivitis	ORPHA:90322
Multiple Benign Circumferential Skin Creases On Limbs	Irregular hyperpigmentation, Microphthalmia, Microcornea, Retinopathy, Epicanthus	ORPHA:2505
Tropical Pancreatitis	Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancr...	ORPHA:103918
Gallbladder Disease 1	Jaundice, Pancreatitis, Cholangitis, Cholelithiasis, Portal inflammation, Cholestasis, Bile duct ...	OMIM:600803
Incontinentia Pigmenti	Nail dysplasia, Nail dystrophy, Microphthalmia, Ridged nail, Sparse hair, Fine hair, Optic atroph...	OMIM:308300
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microphthalmia, Microcornea, Septo-optic dysplasia, Cataract, Iris coloboma	ORPHA:3301
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis	OMIM:619290
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin, Onychogryposis of fingernail, Ridged f...	ORPHA:2251
Leber Congenital Amaurosis 15	Posterior subcapsular cataract, Optic disc pallor, Attenuation of retinal blood vessels, Peripapi...	OMIM:613843
Laron Syndrome	Delayed eruption of teeth, Depressed nasal ridge, Micrognathia, Hypoplastic nasal bridge, Aplasia...	ORPHA:633
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hyposmia, Focal T2 hyperintense thalamic lesion	OMIM:613724
Peroxisome Biogenesis Disorder 9B	Cataract, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:614879
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Retinal degeneration, Pigmentary retinopathy, Long eyelashes	ORPHA:3363
Oculoskeletodental Syndrome	Abnormal thalamus morphology, Thick nasal alae, Broad columella, Wide nasal bridge, Depressed nas...	ORPHA:557003
Hermansky-Pudlak Syndrome 8	Iris transillumination defect, Astigmatism, Silver-gray hair, Myopic astigmatism, Generalized hyp...	OMIM:614077
Pontocerebellar Hypoplasia Type 1	Degeneration of anterior horn cells, Respiratory failure, Hypoplasia of the pons	ORPHA:2254
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea, Blindness	OMIM:164900
Congenital Myopathy 14	Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy	OMIM:618414
Revesz Syndrome	Exudative retinopathy, Megalocornea, Leukocoria	OMIM:268130
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Branchio-Oculo-Facial Syndrome	Premature graying of hair, Microcornea, Coloboma, Cataract, Fingernail dysplasia, Intrauterine gr...	ORPHA:1297
Hypertelorism-Microtia-Facial Clefting Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Microtia	ORPHA:2213
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Retinoblastoma	Hypopyon, Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hetero...	ORPHA:790
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Weaver-Williams Syndrome	Cleft palate, Narrow mouth	ORPHA:3448
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Warburg Micro Syndrome 2	Optic atrophy, Microphthalmia, Microcornea, Developmental cataract, Cataract	OMIM:614225
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal neovascularization, Hepatomegaly, Elevated circulating hepatic transaminase concentration...	ORPHA:404454
Sialidosis Type 2	Corneal opacity	ORPHA:87876
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Palpebral edema, Epicanthus, Brushfield spots, Cataract, Opacification of ...	OMIM:214110
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:2182
Noonan Syndrome 2	Anterior polar cataract	OMIM:605275
Optic Atrophy 1	Tritanomaly, Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Centrocecal scoto...	OMIM:165500
Muir-Torre Syndrome	Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be...	OMIM:158320
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Anteverted nares, Abnormal thalamus morphology, Abnormal nasal morphology, Wide n...	ORPHA:404440
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Wide nasal bridge	ORPHA:166024
Usher Syndrome, Type Iv	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc...	OMIM:618144
Even-Plus Syndrome	Highly arched eyebrow, Microtia, Sparse hair, Synophrys	OMIM:616854
Phenylketonuria	Hypopigmentation of the skin	ORPHA:716
Catifa Syndrome	Microtia	OMIM:618761
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Sclerocorn...	OMIM:300952
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:616030
Cone-Rod Dystrophy And Hearing Loss 2	Reduced visual acuity, Photophobia	OMIM:618358
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Optic nerve hypoplasia, Corneal opacity	ORPHA:496790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Death in childhood, Retinal dysplasia, Encephalocele, Retinal detachment, Optic n...	OMIM:614643
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Depressed nasal bridge, Anosmia, Short nasal septum	OMIM:302950
Pancreatitis, Hereditary	Pancreatic pseudocyst, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic calcification,...	OMIM:167800
Mietens Syndrome	Cataract, Microcornea, Sclerocornea, Corneal opacity	ORPHA:2557
Diabetes And Deafness, Maternally Inherited	Ptosis, Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Mody	Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c...	ORPHA:552
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele, Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morp...	ORPHA:280195
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele	OMIM:218670
Fanconi Anemia, Complementation Group G	Microphthalmia, Multiple cafe-au-lait spots	OMIM:614082
Cholestasis, Benign Recurrent Intrahepatic, 1	Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice	OMIM:243300
Infantile Sialic Acid Storage Disease	Hydrocephalus, Death in childhood, Hypopigmentation of the skin, Fair hair	OMIM:269920
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	High palate, Nasal polyposis, Bifid uvula, Median cleft upper lip, Iris coloboma	OMIM:155145
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Parietal Foramina With Cleidocranial Dysplasia	Microtia	OMIM:168550
Sandhoff Disease	Blindness	ORPHA:796
Proboscis Lateralis	Microphthalmia, Optic nerve hypoplasia, Corneal opacity, Abnormal eyebrow morphology, Nasolacrima...	ORPHA:141099
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microphthalmia, Persistent pupillary membrane, Microcornea	OMIM:257850
Atelis Syndrome 1	Irregular hyperpigmentation, Cafe-au-lait spot, Microtia, Glue ear	OMIM:620184
Alacrima, Congenital, Autosomal Recessive	Punctate corneal epithelial erosions	OMIM:601549
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Baraitser-Winter Syndrome 1	Microphthalmia, Highly arched eyebrow, Long palpebral fissure, Ptosis, Chorioretinal coloboma, Ep...	OMIM:243310
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Chromosome Xq21 Deletion Syndrome	Constriction of peripheral visual field, Progressive visual loss, Nyctalopia	OMIM:303110
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Broad nasal tip	OMIM:613670
Griscelli Syndrome	Premature graying of hair, Hypopigmented skin patches, Encephalocele, Silver-gray hair, Hydroceph...	ORPHA:381
Sandestig-Stefanova Syndrome	Microphthalmia, Highly arched eyebrow, Laterally extended eyebrow, Developmental cataract, Epican...	OMIM:618804
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Amyotrophic Lateral Sclerosis 4, Juvenile	Pallor of dorsal columns of the spinal cord, Atrophy of the spinal cord, Degeneration of anterior...	OMIM:602433
Stevenson-Carey Syndrome	Low-set ears, Coloboma, Microphthalmia, Posteriorly rotated ears	OMIM:611961
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:613954
Paganini-Miozzo Syndrome	Low-set ears, Microtia, Posteriorly rotated ears	OMIM:301025
Retinitis Pigmentosa 6	Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration	OMIM:312612
Lissencephaly 5	Optic atrophy, Occipital encephalocele, Hydrocephalus, Cataract	OMIM:615191
Potocki-Shaffer Syndrome	Short nose, Wide nasal bridge, Underdeveloped nasal alae	OMIM:601224
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Low-set ears, Microtia, Posteriorly rotated ears, Long eyelashes	OMIM:618089
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,...	ORPHA:454840
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Microphthalmia, Keratoconjunctivitis sicca, Small nail, Bri...	OMIM:601675
Microphthalmia, Syndromic 11	Cleft upper lip, Microphthalmia, Cleft palate	OMIM:614402
Alexander Disease Type I	Hydrocephalus, Abnormal thalamic MRI signal intensity	ORPHA:363717
Camptodactyly Syndrome, Guadalajara Type 1	Low-set, posteriorly rotated ears, Highly arched eyebrow, Attached earlobe, Microtia, Synophrys, ...	ORPHA:1327
Trichinellosis	Retinal hemorrhage, Abnormal optic nerve morphology, Anisocoria, Conjunctival hyperemia, Abnormal...	ORPHA:863
Vitamin K Antagonist Embryofetopathy	Hearing impairment, Microtia, Aplasia/Hypoplasia affecting the eye	ORPHA:1914
Oculoauriculofrontonasal Syndrome	Wide nose, Encephalocele, Bifid nasal tip, Micrognathia, Cleft palate, Underdeveloped nasal alae	ORPHA:398156
Kapur-Toriello Syndrome	Microphthalmia, Iris coloboma, Retinal coloboma	ORPHA:2328
Oculocutaneous Albinism Type 5	Reduced visual acuity, Hypoplasia of the fovea, Photophobia, Ocular albinism	ORPHA:370091
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Broad nasal tip	OMIM:137550
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Depressed nasal ridge, Intestinal malrotation, Micrognathia, Wide nasal bridge, Underdeveloped na...	ORPHA:77300
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the inner ear, Sensorineural hearing impairment, Microtia, Abnormality of the midd...	ORPHA:2549
Distal Deletion 17Q	Microtia, Low-set, posteriorly rotated ears, Melanocytic nevus	ORPHA:1597
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity	ORPHA:444013
Ceroid Lipofuscinosis, Neuronal, 1	Progressive visual loss, Blindness	OMIM:256730
Zechi-Ceide Syndrome	Wide nose, Cleft palate, Malar flattening, Wide nasal bridge, Underdeveloped nasal alae	OMIM:612916
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
8Q21.11 Microdeletion Syndrome	Microphthalmia, Corneal opacity, Ptosis, Iris hypopigmentation, Downslanted palpebral fissures, S...	ORPHA:284160
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Anterior chamber synechiae, Uveitis	ORPHA:85410
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Microphthalmia, Lenz Type	Microphthalmia, Microcornea, Ankyloblepharon, Chorioretinal coloboma, Optic disc coloboma, Catara...	ORPHA:568
Intellectual Developmental Disorder, Autosomal Dominant 67	Astigmatism, Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hyperactivity dis...	OMIM:619927
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Respiratory failure	OMIM:614399
20P12.3 Microdeletion Syndrome	Microtia, Thickened helices	ORPHA:261295
Pontocerebellar Hypoplasia Type 10	Wide nasal bridge, Underdeveloped nasal alae	ORPHA:411493
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Pheochromocytoma/Paraganglioma Syndrome 4	Chemodectoma, Adrenal pheochromocytoma, Renal cell carcinoma, Gastrointestinal stroma tumor, Para...	OMIM:115310
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Anophtha...	ORPHA:2526
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer	OMIM:137215
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Astigmatism	ORPHA:1824
Cocaine Intoxication	Mydriasis	ORPHA:90068
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus	ORPHA:65288
Chanarin-Dorfman Syndrome	Sensorineural hearing impairment, Microtia, Alopecia	OMIM:275630
Lacrimoauriculodentodigital Syndrome	Recurrent corneal erosions, Corneal neovascularization, Lacrimal gland aplasia, Corneal ulceratio...	ORPHA:2363
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cataract	ORPHA:85172
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia, Microcornea, Sclerocornea, Cataract, Peters anomaly, Reti...	OMIM:243605
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Recurrent otitis media, Microtia, Synophrys, Thick eyebrow, Posteriorly rotated ears	OMIM:602562
Pai Syndrome	Midline defect of the nose, Nasal polyposis, Abnormal oral frenulum morphology, Cleft palate, Bif...	ORPHA:1993
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Retinitis Pigmentosa 50	Reduced visual acuity, Nyctalopia	OMIM:613194
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification	OMIM:618824
Burn-Mckeown Syndrome	Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Mandibular prognathia, Choanal atr...	OMIM:608572
X-Linked Intellectual Disability, Van Esch Type	Microtia, Male hypogonadism, Hypergonadotropic hypogonadism	ORPHA:163976
Antiphospholipid Syndrome, Familial	Iritis, Retinal detachment, Retinal vasculitis, Central retinal artery occlusion, Keratitis, Vitr...	OMIM:107320
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Nail dysplasia, Curly eyelashes, Facial hirsutism, Microtia, Low posterior hairline, Curly hair, ...	ORPHA:163654
Microcephaly-Cardiomyopathy Syndrome	Intrauterine growth retardation, Abnormality of retinal pigmentation	ORPHA:2515
Frontofacionasal Dysplasia	S-shaped palpebral fissures, Microphthalmia, Iris coloboma, Telecanthus, Microcornea, Ptosis, Eye...	OMIM:229400
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin	OMIM:610798
Congenital Fibrinogen Deficiency	Tachycardia, Microphthalmia, Developmental cataract, Internal hemorrhage	ORPHA:335
Gastrointestinal Stromal Tumor	Neurofibroma, Intestinal obstruction, Gastrointestinal stroma tumor	OMIM:606764
Mcdonough Syndrome	Mandibular prognathia, Micrognathia, Prominent nose, Dental malocclusion, Underdeveloped nasal alae	ORPHA:2471
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Micrognathia, Wide nasal bridge, Underdeveloped nasal alae, Umbilical hernia	ORPHA:1516
14Q11.2 Microdeletion Syndrome	Short nose, Depressed nasal bridge	ORPHA:261120
Retinitis Pigmentosa 51	Photophobia, High myopia, Reduced visual acuity, Visual impairment, Nyctalopia	OMIM:613464
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microtia, Low-set, posteriorly rotated ears	ORPHA:2994
Mycophenolate Mofetil Embryopathy	Microphthalmia, Microtia, Hearing impairment, Atresia of the external auditory canal, Chorioretin...	ORPHA:268249
Hermansky-Pudlak Syndrome	Astigmatism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphol...	ORPHA:79430
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Alpha-Mannosidosis	Cataract, Corneal opacity	ORPHA:61
Isotretinoin Embryopathy-Like Syndrome	Microtia, Anotia	OMIM:243440
Optic Atrophy 14	Constriction of peripheral visual field, Reduced visual acuity	OMIM:620550
Hypocalciuric Hypercalcemia, Familial, Type Ii	Peptic ulcer, Multiple lipomas, Pancreatitis, Primary hyperparathyroidism	OMIM:145981
Optic Atrophy 7 With Or Without Auditory Neuropathy	Constriction of peripheral visual field, Dyschromatopsia, Central scotoma, Reduced visual acuity,...	OMIM:612989
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology	ORPHA:88619
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Low hanging columella, Anteverted nares, High palate, Prominent nasal ...	OMIM:618825
Joubert Syndrome 28	Highly arched eyebrow, Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Pigmentary retinopathy	ORPHA:79095
Incontinentia Pigmenti	Irregular hyperpigmentation, Microphthalmia, Corneal opacity, Broad nail, Umbilical hernia, Abnor...	ORPHA:464
Hypogonadotropic Hypogonadism 27 Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:619755
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
17P13.3 Microduplication Syndrome	Short nose, Wide nose	ORPHA:217385
Cystinosis, Adult Nonnephropathic	Corneal crystals, Abnormal retinal morphology	OMIM:219750
3Mc Syndrome 3	Tessier cleft, Cleft upper lip, Cleft palate	OMIM:248340
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Spotty hyperpigmen...	ORPHA:79133
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Hepatic steatosis, Adrenal insufficiency	OMIM:619386
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail...	OMIM:245400
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Retinitis Pigmentosa 12	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:600105
Holoprosencephaly 7	Short nose, Midline defect of the nose, Semilobar holoprosencephaly, Microphthalmia, Bilateral mi...	OMIM:610828
Optic Pathway Glioma	Visual field defect, Visual loss, Reduced visual acuity, Blindness	ORPHA:2086
Basal Ganglia Calcification, Idiopathic, 5	Thalamic calcification	OMIM:615483
Bestrophinopathy, Autosomal Recessive	Reduced visual acuity, Hypermetropia	OMIM:611809
Usher Syndrome	Astigmatism, Progressive visual loss, Visual field defect, Visual impairment, Cataract, High hype...	ORPHA:886
Stiff Skin Syndrome	Cataract	OMIM:184900
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, High hypermetropia, Reduced visual acuity, Photophobia	OMIM:615179
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Kapur-Toriello Syndrome	Cataract, Microphthalmia, Iris coloboma, Retinal coloboma	OMIM:244300
Peripheral Primitive Neuroectodermal Tumor	Spinal cord tumor, Neoplasm of the pancreas, Ovarian neoplasm, Jaundice, Pancreatitis, Brain neop...	ORPHA:370348
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Myelitis	ORPHA:71211
Night Blindness, Congenital Stationary, Type 1C	Congenital stationary night blindness, Myopia, Reduced visual acuity	OMIM:613216
Filippi Syndrome	Low hanging columella, Serrated incisors, Intrauterine growth retardation, Wide nasal bridge, Und...	OMIM:272440
Miller-Dieker Syndrome	Short nose, Anteverted nares	ORPHA:531
Myopia 27, Autosomal Dominant	High myopia, Increased axial length of the globe	OMIM:618827
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre...	OMIM:145250
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Respiratory failure, Ventilator dependence with inability to wean, Res...	ORPHA:254875
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:3440
Scorpion Envenomation	Mydriasis, Miosis	ORPHA:466677
Albinism, Ocular, Type I	Reduced visual acuity, Hypoplasia of the fovea, Photophobia, Ocular albinism	OMIM:300500
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Flared nostrils, Anteverted nares, Wide nasal bridge	OMIM:312170
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Death in infancy	ORPHA:1495
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Microtia	OMIM:620137
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
Nabais Sa-De Vries Syndrome, Type 2	Microtia, Low-set ears, Sparse eyebrow, Posteriorly rotated ears, Protruding ear	OMIM:618829
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Hyposmia, Decreased circulating...	OMIM:614897
Night Blindness, Congenital Stationary, Type 2A	Congenital stationary night blindness, Reduced visual acuity, Visual impairment	OMIM:300071
Phace Syndrome	Retinal vascular malformation, Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Scle...	ORPHA:42775
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short nose, Bilateral choanal atresia, Anteverted nares, Choanal atresia, Neonatal death, Choanal...	OMIM:619859
Arthrogryposis Multiplex Congenita 6	Respiratory failure, Death in childhood, Neonatal death, Death in infancy	OMIM:619334
Joubert Syndrome 9	Cataract, Astigmatism, Encephalocele, Retinal dystrophy	OMIM:612285
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Chronic rhinitis, ...	OMIM:608647
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Retinal thinning, Asteroid hyalosis	OMIM:132450
Humeroradial Synostosis	Small earlobe, Microtia	OMIM:236400
Microphthalmia, Syndromic 3	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Sclerocornea, Cataract	OMIM:206900
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract	ORPHA:1345
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Acrofrontofacionasal Dysostosis 1	Optic atrophy, S-shaped palpebral fissures, Microphthalmia, Long eyebrows, Iris atrophy, Long eye...	OMIM:201180
Retinitis Pigmentosa 23	Constriction of peripheral visual field, Posterior subcapsular cataract, Color vision defect, Pho...	OMIM:300424
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity, Coloboma, Hypopigmentation of the skin, Alopecia	OMIM:163200
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Hearing abnormality, Microtia, Ocular albinism, Cupped ear	ORPHA:1352
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Treacher Collins Syndrome 3	Conductive hearing impairment, Microtia	OMIM:248390
22Q11.2 Deletion Syndrome	Microphthalmia, Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis, Pos...	ORPHA:567
Lcat Deficiency	Corneal opacity	ORPHA:650
Acromicric Dysplasia	Anteverted nares, Short nose, Bulbous nose	ORPHA:969
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology	OMIM:606353
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Facial hirsutism, Abnormal pinna morphology, Microtia, Retinal coloboma...	ORPHA:2839
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy	ORPHA:35689
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411511
Seckel Syndrome 7	Microtia, Primary amenorrhea	OMIM:614851
Systemic Capillary Leak Syndrome	Myocarditis, Pericarditis, Pancreatitis, Multiple myeloma	ORPHA:188
Mevalonic Aciduria	Cataract	ORPHA:29
3P25.3 Microdeletion Syndrome	Microphthalmia, Anteverted nares, Abnormal thalamus morphology, Prominent nose, Depressed nasal b...	ORPHA:435638
Chromosome 6Pter-P24 Deletion Syndrome	Short palpebral fissure, Ocular anterior segment dysgenesis, Telecanthus, Axenfeld anomaly, Poste...	OMIM:612582
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Thalamic calcification	OMIM:618317
Myopathy, Distal, 7, Adult-Onset, X-Linked	Cataract	OMIM:301075
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Highly arched eyebrow, Coloboma, Low-set ears, Long eyelashes, Synophrys, Macrotia, Low anterior ...	ORPHA:329224
Retinitis Pigmentosa 71	Nyctalopia	OMIM:616394
Verheij Syndrome	Intrauterine growth retardation, Optic nerve hypoplasia, Coloboma, Branchial cyst	OMIM:615583
5Q14.3 Microdeletion Syndrome	Anteverted nares, Short nose, Optic nerve hypoplasia	ORPHA:228384
Autosomal Recessive Stickler Syndrome	Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract	ORPHA:250984
Glutamine Deficiency, Congenital	Short nose, Anteverted nares, Neonatal death, Wide nasal bridge, Depressed nasal bridge	OMIM:610015
Trisomy 1Q	Wide nose, Anophthalmia, Anal atresia, Cleft palate, Microretrognathia, Depressed nasal bridge	ORPHA:261344
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Abnormal optic nerve morphology, Anophthalmia	ORPHA:3412
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Cleft palate, Underdeveloped nasal alae, Hydranencephaly	OMIM:601355
Orofaciodigital Syndrome Xv	Anteverted nares, Molar tooth sign on MRI, Wide nasal bridge	OMIM:617127
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti...	OMIM:618697
Axenfeld-Rieger Syndrome, Type 2	Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae	OMIM:601499
Congenital Sialidosis Type 2	Optic atrophy, Yellow/white lesions of the retina, Corneal opacity, Developmental cataract, Hypop...	ORPHA:93400
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Cerebrooculonasal Syndrome	Narrow palate, Solitary median maxillary central incisor, Encephalocele, Anophthalmia, Optic nerv...	OMIM:605627
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Microphthalmia, Brittle hair, Tiger tail banding, Developmental cataract, C...	OMIM:616395
Baralle-Macken Syndrome	Cafe-au-lait spot, Hirsutism, Cataract	OMIM:619255
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute...	ORPHA:905
Congenital Muscular Dystrophy, Fukuyama Type	Optic atrophy, Retinal dysplasia, Hydrocephalus, Cataract, Intrauterine growth retardation	ORPHA:272
Proximal 16P11.2 Microduplication Syndrome	Sparse eyelashes, Sparse eyebrow, Microtia, Abnormality of the hairline	ORPHA:370079
Hypocalciuric Hypercalcemia, Familial, Type I	Pancreatitis, Parathyroid adenoma, Hyperparathyroidism	OMIM:145980
Nephronophthisis 15	Blindness	OMIM:614845
Linear Skin Defects With Multiple Congenital Anomalies 2	Myopia, Microphthalmia, Visual impairment	OMIM:300887
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b...	OMIM:604116
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Molar tooth sign on MRI, Optic disc hypoplasia, Fusion of the left and right thalami, Depressed n...	OMIM:619306
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Nevus Comedonicus Syndrome	Cataract, Spina bifida, Spina bifida occulta, Abnormal hair morphology	ORPHA:64754
Autoimmune Polyendocrinopathy Type 1	Hypopigmented skin patches, Abnormal fingernail morphology, Cataract, Opacification of the cornea...	ORPHA:3453
Frontorhiny	Microphthalmia, Encephalocele, Basal encephalocele, Cataract, Cranium bifidum occultum, Widow's p...	ORPHA:391474
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Microphthalmia, Developmental cataract	OMIM:127000
Cockayne Syndrome Type 1	Optic atrophy, Anophthalmia, Conjunctivitis, Cataract, Pigmentary retinopathy, Uveitis	ORPHA:90321
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Atresia of the external auditory canal, Microtia, Abnormal hair pattern, Low-set, posteriorly rot...	ORPHA:1770
Usher Syndrome, Type 1M	Nyctalopia	OMIM:618632
Cohen Syndrome	Optic atrophy, Microphthalmia, Abnormal eyelid morphology, Abnormal eyelash morphology, Long eyel...	ORPHA:193
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Bitot spots of the conjunctiva, Nyctalopia	OMIM:277350
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:614072
Retinitis Pigmentosa 93	Constriction of peripheral visual field, Reduced visual acuity	OMIM:619845
Cone-Rod Dystrophy 18	High myopia, Reduced visual acuity, Central scotoma	OMIM:615374
Peho-Like Syndrome	Short nose	OMIM:617507
Craniosynostosis, Herrmann-Opitz Type	Abnormal antihelix morphology, Microtia	ORPHA:2145
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Ectopia lentis, Lens subluxation, Hypopigmentation of the skin, Brittle hair	OMIM:236200
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Telecanthus, Highly arched eyebrow, Microcornea, Ptosis, Epicanthus inversus, Nar...	OMIM:110100
Edinburgh Malformation Syndrome	Aplasia/Hypoplasia affecting the eye, Anteverted nares, Short nose, Choanal atresia	ORPHA:1895
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Macular coloboma, Cervical myelopathy, Geographic atrophy, Synophrys, Attenuation of retinal bloo...	OMIM:619260
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Corneal opacity	OMIM:620469
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Choroidal neovascularization, Iris nevus, Cystoid macular edema, Chorioretin...	ORPHA:91500
Congenital Neuronal Ceroid Lipofuscinosis	Respiratory failure, Neonatal respiratory distress, Wide nasal bridge	ORPHA:168486
Fanconi Anemia	Hypopigmented skin patches, Irregular hyperpigmentation, Microphthalmia, Astigmatism, Hydrocephal...	ORPHA:84
Hyperekplexia 4	Respiratory failure	OMIM:618011
Musk, Inability To Smell	Blindness	OMIM:254150
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Abnormal pupillary light reflex, Abnormal optic nerve morphology, Anisocoria	ORPHA:99949
Immunodeficiency 54	Respiratory insufficiency, Respiratory failure, Adrenocorticotropic hormone excess	OMIM:609981
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Broad eyebrow, Microtia, Synophrys, Horizontal eyebrow, Long eyelashes, Hearing impairment, Poste...	OMIM:620475
Baker-Gordon Syndrome	Short nose, Prominent nasal tip	OMIM:618218
Zimmermann-Laband Syndrome 2	Bifid nasal tip, Prominent nasal septum, Underdeveloped nasal alae, Macroglossia	OMIM:616455
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Irregular hyperpigmentation, Generalized hypopigmentation, Abnormal eyebrow morphology, Generaliz...	ORPHA:1816
Narp Syndrome	Constriction of peripheral visual field, Abnormal visual field test, Blindness	ORPHA:644
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Tritanomaly, Dyschromatopsia, Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, ...	OMIM:125250
Holoprosencephaly	Spinal cord tumor, Anophthalmia, Microphthalmia, Anterior hypopituitarism, Encephalocele, Respira...	ORPHA:2162
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Amyloidosis, Finnish Type	Lattice corneal dystrophy, Cataract, Orthostatic hypotension, Optic neuropathy	OMIM:105120
Cronkhite-Canada Syndrome	Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, A...	ORPHA:2930
Clark-Baraitser Syndrome	Anteverted nares, Short nose, Depressed nasal bridge, Low hanging columella	OMIM:617752
Histiocytoid Cardiomyopathy	Optic atrophy, Microphthalmia, Hydrocephalus, Corneal opacity, Congenital aphakia, Megalocornea	ORPHA:137675
Menkes Disease	Death in childhood, Brittle hair, Hypopigmentation of the skin, Sparse hair, Intrauterine growth ...	OMIM:309400
Frontonasal Dysplasia 2	Microphthalmia, Widely spaced teeth, Encephalocele, Conical tooth, Tessier number 13 facial cleft...	OMIM:613451
Jalili Syndrome	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:217080
Fanconi Anemia, Complementation Group S	Narrow palate, Microphthalmia, Anteverted nares, Prominent nasal bridge, Dental malocclusion, Und...	OMIM:617883
Acro-Renal-Ocular Syndrome	Short palpebral fissure, Microphthalmia, Aganglionic megacolon, Optic disc hypoplasia, Microcorne...	ORPHA:959
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Intrauterine growth retardation, Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of...	ORPHA:261304
Pontocerebellar Hypoplasia, Type 11	Macrotia, Coloboma	OMIM:617695
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Cleft palate, Ankyloglossia	OMIM:303400
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Retinitis Pigmentosa 59	Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:613861
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Alpha-Mannosidosis, Adult Form	Cataract, Corneal opacity	ORPHA:309288
Verloove Vanhorick-Brubakk Syndrome	Atresia of the external auditory canal, Microtia, Low-set ears	ORPHA:3429
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas...	OMIM:262600
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Microtia, Hirsutism, Synophrys	OMIM:616977
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Blindness	ORPHA:3137
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Microtia, Low-set ears	ORPHA:171839
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71526
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Microtia, Synophrys, Hearing impairment, Long eyelashes, Macrotia, Fine hair	OMIM:620250
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myopic astigmatism, Hyperactivity, Impulsivity, Frequent temper tantrums, Pulmonic stenosis, Faci...	OMIM:620141
Acute Radiation Syndrome	Cataract, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Hearing impairment, Microtia, Low-set ears	OMIM:619056
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Corneal dystrophy, Keratitis, Conjunctivitis	OMIM:308800
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Hearing impairment, Microtia	OMIM:616006
Distal Deletion 9P	Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlo...	ORPHA:1642
Keppen-Lubinsky Syndrome	Abnormally large globe, Narrow nasal bridge, Prominent nasal tip, Narrow naris, Underdeveloped na...	ORPHA:435628
Leukodystrophy, Hypomyelinating, 24	Cataract	OMIM:619851
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me...	OMIM:214500
Scalp-Ear-Nipple Syndrome	Nail dysplasia, Iris coloboma, Breast aplasia, Small earlobe, Microtia, Underdeveloped tragus, Lo...	OMIM:181270
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Cranium bifidum occultum, Microphthalmia, Cleft palate	ORPHA:306542
Buratti-Harel Syndrome	Small nail, Microtia, Low-set ears, Posteriorly rotated ears, Sparse medial eyebrow	OMIM:619314
Nager Syndrome	Low-set, posteriorly rotated ears, Microtia, Hearing impairment, Atresia of the external auditory...	ORPHA:245
Myopia 22, Autosomal Dominant	High myopia, Reduced visual acuity	OMIM:615420
Keppen-Lubinsky Syndrome	Narrow naris, Abnormally large globe, Underdeveloped nasal alae, Narrow nasal bridge	OMIM:614098
Hartsfield Syndrome	Intrauterine growth retardation, Lobar holoprosencephaly, Microphthalmia, Encephalocele	ORPHA:2117
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Micrognathia, Cleft palate, Intrauterine growth retardation, Underdeveloped ...	ORPHA:2516
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Short nose	OMIM:618506
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Laurence-Moon Syndrome	Cataract, Iris coloboma	ORPHA:2377
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Encephalocele, Anteverted nares, Bifid nose, Depressed nasal bridge, Intrauterine...	ORPHA:228390
Scheie Syndrome	Aortic valve stenosis, Mitral stenosis, Corneal opacity, Aortic regurgitation	OMIM:607016
Diabetic Embryopathy	Hearing impairment, Microtia, Aplasia/Hypoplasia affecting the eye, Low-set, posteriorly rotated ...	ORPHA:1926
Spinocerebellar Ataxia, Autosomal Recessive 3	Blindness	OMIM:271250
Simosa Craniofacial Syndrome	Long nose, High, narrow palate, Depressed nasal tip, Malar flattening, Wide nasal bridge, Underde...	OMIM:182150
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Depressed nasal ridge, Communicating hydrocephalus	ORPHA:1861
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Diprosopus	Non-midline cleft of the upper lip, Cleft palate, Anencephaly	ORPHA:1681
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Recurrent otitis media, Microtia, Hearing impairment, Abnormality of the outer ear	ORPHA:2728
Craniodigital-Intellectual Disability Syndrome	Short nose, Narrow nasal bridge	ORPHA:1514
Joubert Syndrome 20	Respiratory insufficiency, Molar tooth sign on MRI	OMIM:614970
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neonatal death	OMIM:257100
Al-Gazali Syndrome	Sclerocornea, Corneal opacity	OMIM:609465
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Infantile Spasms-Broad Thumbs Syndrome	Cataract	ORPHA:3173
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormal pancreas morphology, Siala...	ORPHA:449432
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
Oculocerebral Hypopigmentation Syndrome, Cross Type	Corneal opacity, Aplasia/Hypoplasia affecting the eye, Choroideremia, Iris hypopigmentation, Cata...	ORPHA:2719
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hyposmia, Decreased circulating luteinizing hormone level, Decreased circulating follicle stimula...	OMIM:308700
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Cataract	OMIM:253800
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Optic disc hypoplasia, Posterior polar cataract	ORPHA:261584
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma, Cataract	ORPHA:163937
Cone-Rod Dystrophy 6	Photophobia, Dyschromatopsia, Progressive night blindness, Hemeralopia, Peripheral visual field l...	OMIM:601777
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid de...	OMIM:618935
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impaired glucose toler...	OMIM:615363
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614842
Sialidosis Type 1	Cataract, Corneal opacity, Retinopathy, Cherry red spot of the macula	ORPHA:812
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose	ORPHA:2598
Sweeney-Cox Syndrome	Small nail, Microtia, Overfolded helix, Low-set ears, Hearing impairment, Uplifted earlobe, Gener...	OMIM:617746
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	ORPHA:1556
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate	ORPHA:2476
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Atypical Pantothenate Kinase-Associated Neurodegeneration	Blindness	ORPHA:216873
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract	OMIM:201470
Immunoneurologic Disorder, X-Linked	Nyctalopia	OMIM:300076
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria	OMIM:615510
Rhombencephalosynapsis	Short nose, Hydrocephalus, Anteverted nares, Septo-optic dysplasia, Fusion of the left and right ...	ORPHA:59315
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Microphthalmia, Depressed nasal ridge, Death in infancy	ORPHA:163966
Cerebrooculofacioskeletal Syndrome 1	Cataract, Microphthalmia, Blepharophimosis	OMIM:214150
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose	ORPHA:2429
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Joubert Syndrome 21	Occipital encephalocele, Single naris, Encephalocele, Elongated superior cerebellar peduncle, Ano...	OMIM:615636
Braddock-Carey Syndrome 2	Hearing impairment, Atresia of the external auditory canal, Microphthalmia	OMIM:619981
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Anteverted nares, High palate, Wide nasal bridge, Underdeveloped nasal alae	OMIM:616158
Severe Canavan Disease	Blindness	ORPHA:314911
Infantile Refsum Disease	Cataract, Constriction of peripheral visual field, Visual impairment, Nyctalopia	ORPHA:772
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Splenomegaly	ORPHA:79312
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Nail dysplasia, Sparse eyelashes, Sparse eyebrow, Cataract, Alopecia	OMIM:615704
Jacobsen Syndrome	Optic atrophy, Microphthalmia, Telecanthus, Nasolacrimal duct obstruction, Microcornea, Abnormal ...	OMIM:147791
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Broad columella, Micrognathia, Malar flattening, Dental malocclusion, Underdeveloped nasal alae	ORPHA:436245
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Trisomy 18P	High, narrow palate, Pyloric stenosis, Micrognathia, Intrauterine growth retardation, Wide nasal ...	ORPHA:1715
Leigh Syndrome	Respiratory insufficiency, Respiratory failure, Focal substantia nigra T2 hyperintensity	OMIM:256000
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macrotia, Coloboma, Low-set ears	OMIM:616789
Non-24-Hour Sleep-Wake Syndrome	Blindness	ORPHA:73267
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia, Blindness	OMIM:617914
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the optic nerve, Microtia, Bilateral sensorineural hearing impairment, Cupp...	ORPHA:40366
Postsynaptic Congenital Myasthenic Syndromes	Respiratory failure, Fatigable weakness of respiratory muscles, Decreased miniature endplate pote...	ORPHA:98913
Mohr-Tranebjaerg Syndrome	Constriction of peripheral visual field, Photophobia, Cerebral visual impairment, Reduced visual ...	OMIM:304700
Neuroocular Syndrome	Microphthalmia, Brittle hair, Highly arched eyebrow, Small nail, Microcornea, Stellate iris, Dist...	OMIM:619539
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis	ORPHA:289916
Infantile Neuronal Ceroid Lipofuscinosis	Visual loss, Blindness, Progressive visual field defects	ORPHA:79263
Autosomal Dominant Optic Atrophy And Cataract	Posterior subcapsular cataract, Tritanomaly, Posterior cortical cataract, Central scotoma, Red-gr...	ORPHA:67036
Muscle-Eye-Brain Disease	Optic atrophy, Meningocele, Hydrocephalus, Holoprosencephaly, Cataract	ORPHA:588
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Microphthalmia, Corneal ulceration, Conjunctivitis, Arrhythmia	OMIM:153400
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Small nail, Microtia, Low-set ears, Sparse eyebrow, Supernumerary nipple	OMIM:612530
Holoprosencephaly 9	Short nose, Agenesis of incisor, Microphthalmia, Single naris, Anophthalmia, Short hard palate, B...	OMIM:610829
Osteopetrosis, Autosomal Recessive 8	Visual loss, Unilateral microphthalmos	OMIM:615085
Cardiofaciocutaneous Syndrome 4	Multiple lentigines, Alopecia of scalp, Optic nerve hypoplasia, Curly hair, Sparse eyelashes, Caf...	OMIM:615280
Rat-Bite Fever	Morbilliform rash, Myocarditis, Pancreatitis, Arthritis, Skin rash, Parotitis, Lymphadenitis, Per...	ORPHA:31205
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Nabais Sa-De Vries Syndrome, Type 1	Short nose, Optic nerve hypoplasia, Prominent nasal bridge, Bulbous nose, Depressed nasal bridge	OMIM:618828
Orofaciodigital Syndrome Xix	Narrow palate, Retrognathia, Cleft soft palate, Bifid nasal tip, Thick nasal alae, High palate, C...	OMIM:620107
Carpenter Syndrome	Abnormal cornea morphology	ORPHA:65759
Alpers-Huttenlocher Syndrome	Abnormality of vision, Blindness	ORPHA:726
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Ptosis, Pigmentary retinopathy	OMIM:252011
Fraser Syndrome 1	Tessier cleft, Bilateral microphthalmos, Encephalocele, Anophthalmia, Dental crowding, Myelomenin...	OMIM:219000
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly, Cleft upper lip, Cleft palate	OMIM:611561
Congenital Disorder Of Deglycosylation 2	Highly arched eyebrow, Microtia, Retinal coloboma, Hearing impairment, Cleft earlobe	OMIM:619775
Tyrosinemia, Type Ii	Herpetiform corneal ulceration	OMIM:276600
Sea-Blue Histiocytosis	Retinopathy, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:158029
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614839
Pancreatic Agenesis 1	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de...	OMIM:260370
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Coloboma, Intrauterine growth retardation, Low posterior hairline	OMIM:220210
Bartsocas-Papas Syndrome 1	Tessier cleft, Microphthalmia, Anal stenosis, Oral synechia, Anal atresia, Cleft upper lip, Cleft...	OMIM:263650
Weill-Marchesani Syndrome 1	High myopia, Microspherophakia, Ectopia lentis, Shallow anterior chamber, Cataract, Blindness	OMIM:277600
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Reduced visual acuity, Blindness	ORPHA:440727
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Coloboma, Astigmatism	OMIM:618659
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613266
Achondrogenesis Type 2	Retinal detachment, Abnormal vitreous humor morphology, Lens subluxation, Cataract	ORPHA:93296
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Death in infancy	OMIM:618240
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Schwannomatosis, Vestibular	Retinal hamartoma, Inguinal freckling, Posterior subcapsular cataract, Juvenile posterior subcaps...	OMIM:101000
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Stickler Syndrome Type 1	Retinal detachment, Abnormal vitreous humor morphology, Cataract	ORPHA:90653
Retinitis Pigmentosa 49	Peripheral visual field loss, Reduced visual acuity, Nyctalopia	OMIM:613756
Cone-Rod Dystrophy 8	Peripheral visual field loss, Blindness, Photophobia, Nyctalopia	OMIM:605549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Hydrocephalus, Coloboma, Retinal a...	OMIM:253280
Amyotrophic Lateral Sclerosis	Fatigable weakness of respiratory muscles, Fatigable weakness of bulbar muscles, Motor neuron atr...	ORPHA:803
Spinocerebellar Ataxia With Epilepsy	Focal T2 hyperintense thalamic lesion	ORPHA:254881
Scheie Syndrome	Corneal opacity	ORPHA:93474
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Medial flaring of the eyebrow, Small nail, Microtia, Synophrys, Cafe-au-lait spot, Hearing impair...	OMIM:620494
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Short nose, Wide nasal bridge	OMIM:618577
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ...	ORPHA:247806
Cach Syndrome	Optic neuritis, Pancreatitis, Hepatosplenomegaly	ORPHA:135
Skin Creases, Congenital Symmetric Circumferential, 1	Short palpebral fissure, Microphthalmia, Microcornea, Epicanthus, Upslanted palpebral fissure, Bl...	OMIM:156610
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Microphthalmia, Depressed nasal ridge	OMIM:300863
Ohdo Syndrome	Hearing impairment, Stenosis of the external auditory canal, Sparse eyebrow, Microtia	OMIM:249620
Angelman Syndrome	Blue irides, Hypopigmentation of the skin, Fair hair	OMIM:105830
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Short nose, Depressed nasal bridge	OMIM:616910
Odontotrichoungual-Digital-Palmar Syndrome	Nail dysplasia, Nail dystrophy, Hypopigmentation of the skin, Abnormality of hair texture	OMIM:601957
Oculopharyngodistal Myopathy 3	Ptosis, Pigmentary retinopathy	OMIM:619473
Japanese Encephalitis	Focal T2 hyperintense thalamic lesion, Hyperintensity of MRI T2 signal of the spinal cord, Abnorm...	ORPHA:79139
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Abnormal vitreous humor morphology, Retinal dysplasia, Anophthalmia, Retinal dyst...	ORPHA:2556
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall...	OMIM:615710
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas	ORPHA:1203
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Hemeralopia, Myopia, Nyctalopia	OMIM:257270
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Developmental cataract	ORPHA:436174
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Hepatic Lipase Deficiency	Corneal arcus	OMIM:614025
Congenital Disorder Of Glycosylation, Type Iu	Short nose, Death in infancy	OMIM:615042
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Blindness	OMIM:614514
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nail dystrophy, Keratoconjunctivitis, Vitiligo, Iridocyclitis, Cataract, Alopecia universalis, Pe...	OMIM:240300
Carney-Stratakis Syndrome	Intestinal obstruction, Paraganglioma, Gastrointestinal stroma tumor	ORPHA:97286
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Wide nose, Depressed nasal ridge	ORPHA:2831
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion	OMIM:614878
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Abnormality of retinal pigmentation	ORPHA:397951
Branchiootorenal Syndrome 1	Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,...	OMIM:113650
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia, Astigmatism	OMIM:609053
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Nail dysplasia, Nail dystrophy, Scarring alopecia of scalp, Sparse eyelashes, Sparse eyebrow, Ker...	OMIM:612843
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis	OMIM:608600
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Respiratory failure, Neonatal respiratory distress	OMIM:616867
Saethre-Chotzen Syndrome	Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal pinna morphology, Micro...	ORPHA:794
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
19P13.3 Microduplication Syndrome	Low-set ears, Microtia, Posteriorly rotated ears	ORPHA:447980
Primary Non-Essential Cutis Verticis Gyrata	Developmental cataract, Reduced visual acuity	ORPHA:357225
Hyperparathyroidism-Jaw Tumor Syndrome	Fibroma, Peptic ulcer, Thyroid carcinoma, Pancreatitis, Lipoma, Testicular neoplasm, Renal hamart...	ORPHA:99880
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Micrognathia, Bulbous nose, High palate, Underdeveloped nasal alae	OMIM:616549
Trisomy 18	Microphthalmia, Cyclopia, Anencephaly, Microcornea, Spina bifida, Abnormal toenail morphology, Ab...	ORPHA:3380
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Microcornea, Sparse eyelashes, Sparse eyebrow, Downslanted palpebral fissures, Ca...	ORPHA:35173
Joubert Syndrome 37	Molar tooth sign on MRI, Microphthalmia, Wide nose, Anteverted nares, Wide nasal bridge	OMIM:619185
Monosomy 18P	Microphthalmia, Abnormal antihelix morphology, Low posterior hairline, Macrotia, Protruding ear, ...	ORPHA:1598
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract, Blindness	ORPHA:79107
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Stenosis of the external auditory canal, Microtia, Abnormal a...	ORPHA:2878
Linear Nevus Sebaceus Syndrome	Irregular hyperpigmentation, Microphthalmia, Alopecia, Melanocytic nevus, Iris coloboma	ORPHA:2612
Atelis Syndrome 2	Short palpebral fissure, Microphthalmia, Remnants of the hyaloid vascular system, Developmental c...	OMIM:620185
Hermansky-Pudlak Syndrome 6	Iris transillumination defect, Macular hypoplasia, Hypopigmentation of the skin, Absent foveal re...	OMIM:614075
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Cafe-au-lait spot, Microtia, Posteriorly rotated ears, Low-set ears	OMIM:618336
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98794
Cone-Rod Dystrophy 19	High myopia, Reduced visual acuity	OMIM:615860
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Ring Chromosome 10 Syndrome	Abnormal antihelix morphology, Large earlobe, Microphthalmia, Low-set ears	ORPHA:1438
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ...	OMIM:145350
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus, Miscarriage	ORPHA:1947
Lacrimoauriculodentodigital Syndrome 3	Hearing impairment, Absent eyelashes, Microtia, Cupped ear	OMIM:620193
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cafe-au-lait spot, Hypopigmentation of the skin, Intrauterine growth retardation, Hypopigmentatio...	OMIM:618541
Hemochromatosis, Type 4	Cataract, Hyperpigmentation of the skin	OMIM:606069
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract infections	OMIM:614069
Rhizomelic Chondrodysplasia Punctata	Cataract, Sparse body hair, Spina bifida occulta, Alopecia	ORPHA:177
15Q24 Microdeletion Syndrome	High anterior hairline, Broad eyebrow, Myelomeningocele, Coloboma	ORPHA:94065
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:613443
Trigonocephaly 1	Short nose, Wide nasal bridge	OMIM:190440
Marsili Syndrome	Corneal scarring	OMIM:147430
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Odontochondrodysplasia	Short nose, Depressed nasal bridge, Death in infancy	ORPHA:166272
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory insufficiency, Respiratory failure	OMIM:615330
Juvenile Sialidosis Type 2	Cataract, Corneal opacity	ORPHA:93399
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Microtia, Hypergonadotropic hypogonadism	OMIM:212112
Tetraploidy	Aplasia/Hypoplasia affecting the eye, Hypoplasia of the ear cartilage	ORPHA:3305
Angelman Syndrome	Optic atrophy, Astigmatism, Keratoconus, Hypopigmentation of the skin, Iris hypopigmentation, Fai...	ORPHA:72
Lichen Planus Pemphigoides	Abnormality of the nail, Conjunctivitis, Hypopigmented streaks	ORPHA:254478
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Blepharonasofacial Malformation Syndrome	Underdeveloped nasal alae, Cleft palate, Wide nasal bridge, Wide nose	ORPHA:1252
Zellweger Syndrome	Abnormal chorioretinal morphology, Corneal opacity, Posterior embryotoxon, Brushfield spots, Cata...	ORPHA:912
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Anonychia	OMIM:106750
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology	OMIM:215470
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Sclerocornea, Cataract, Peters anomaly, Pigmentary retinopathy, Iris coloboma	OMIM:309801
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Lichen Planopilaris	Hypopigmented skin patches, Pterygium, Onycholysis, Abnormal fingernail morphology, Alopecia	ORPHA:525
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Short nose, Prominent nasal bridge	OMIM:300558
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Microtia	OMIM:619817
Acute Disseminated Encephalomyelitis	Respiratory failure requiring assisted ventilation, Abnormal thalamic MRI signal intensity, Abnor...	ORPHA:83597
Monosomy 13Q14	Microphthalmia, Retinoblastoma, Ptosis, Epicanthus, Cataract, Iris coloboma	ORPHA:1587
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Parathyroid Carcinoma	Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Peptic ulcer, Pancreatitis, Lipoma, Testicular...	ORPHA:143
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis	OMIM:615947
Delayed Puberty, Self-Limited	Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ...	OMIM:619613
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Degeneration of anterior horn cells, Respiratory failure, Ventilator dependence with inability to...	OMIM:604320
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Broad nasal tip, Wide nasal bridge	OMIM:615716
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Cebalid Syndrome	Anteverted nares, Short nose, Depressed nasal bridge, Depressed nasal ridge	OMIM:618774
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Microphthalmia, Chorioretinal coloboma, Death in infancy	OMIM:619135
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microphthalmia, Pulmonary arterial hypertension, Microcornea	OMIM:616449
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Hypopigmentation of the skin, Freckling, Conjunctivitis	OMIM:278720
Igg4-Related Thyroid Disease	Euthyroid goiter, Sialadenitis, Thyroiditis, Abnormal pituitary gland morphology, Thyrotoxicosis ...	ORPHA:64744
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal telangiectasia, Highly arched eyebrow, Optic nerve hypoplasia, Retinal detachment, Hydroc...	OMIM:620157
Cutis Laxa, Autosomal Dominant 3	Developmental cataract, Corneal opacity	OMIM:616603
Ohdo Syndrome, X-Linked	High anterior hairline, Microphthalmia, Stenosis of the external auditory canal, Microtia, Low-se...	OMIM:300895
Beta-Mercaptolactate Cysteine Disulfiduria	Hypoplasia of the ear cartilage, Low-set, posteriorly rotated ears	ORPHA:1035
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
Distal Xq28 Microduplication Syndrome	Cafe-au-lait spot, Absent antihelix, Microtia, Aplasia/Hypoplasia of the eyebrow	ORPHA:293939
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short nose, Microphthalmia, Agenesis of central incisor, Cleft mandible, Cleft palate, Prominent ...	ORPHA:364577
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Ifap Syndrome 2	Cataract, Keratitis, Keratoconjunctivitis sicca	OMIM:619016
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin, Low posterior hairline	ORPHA:261519
Plague	Conjunctival hyperemia, Mydriasis	ORPHA:707
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Behr Syndrome	Visual impairment, Progressive visual loss, Blindness	OMIM:210000
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, Prominent nasal bridge, Broad nasal tip	OMIM:613544
Vici Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Developmental cataract, Cataract, Hypopig...	OMIM:242840
Epidermal Nevus Syndrome	Astigmatism, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:35125
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Neonatal death, Wide nasal bridge, Anophthalmia	OMIM:601186
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Short nose, Bulbous nose, Wide nasal bridge	OMIM:620292
Hypercholesterolemia, Familial, 3	Corneal arcus	OMIM:603776
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Absent nares, Mandibular aplasia, Aplasia/Hypoplasia involving the nose, Microglossia	ORPHA:990
Interstitial Pneumonitis, Desquamative, Familial	Respiratory failure, Recurrent upper respiratory tract infections	OMIM:263000
Optic Atrophy-Intellectual Disability Syndrome	Optic disc hypoplasia, Hypermetropia, Keratoconus, Optic nerve hypoplasia, Cerebral visual impair...	ORPHA:401777
Panhypophysitis	Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Pituitary hy...	ORPHA:95513
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
Femoral-Facial Syndrome	Microtia, Low-set ears	ORPHA:1988
Mast Cell Sarcoma	Hypoplasia of the ear cartilage	ORPHA:66661
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Visual impairment, Visual loss, Progressive visual loss, Blindness	OMIM:601338
Teebi Hypertelorism Syndrome 2	Short nose, Broad nasal tip, Depressed nasal bridge	OMIM:619736
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Hyperinsulinemia, Increased serum testosterone level, Fasting...	ORPHA:2298
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Retinal detachment, Ectopia lentis, Abnormality of retinal pigmentation, Cataract	ORPHA:394
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Long nose, Short nose, Low hanging columella, Delayed eruption of teeth, Anteverted nares, Underd...	OMIM:615866
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion, Death in infancy	OMIM:619046
Contractures-Developmental Delay-Pierre Robin Syndrome	Lop ear, Microtia, Overfolded helix, Iris coloboma	ORPHA:436003
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Bilateral ptosis, Pigmentary retinopathy	ORPHA:329336
Spinocerebellar Ataxia Type 1	Abnormal brainstem morphology, Respiratory failure, Atrophy/Degeneration affecting the brainstem	ORPHA:98755
Werner Syndrome	Premature graying of hair, Miscarriage, Sparse scalp hair, White forelock, Abnormality of retinal...	ORPHA:902
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Short nose	OMIM:619854
Wolf-Hirschhorn Syndrome	Hyperconvex fingernails, Highly arched eyebrow, Hydrocephalus, Low posterior hairline, Rieger ano...	OMIM:194190
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Testicular microlithiasis, Decreased circulating luteinizing hormone level, Andr...	OMIM:228300
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Subcapsular cataract, Rod-cone dystrophy, Cataract	OMIM:612674
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614837
Chung-Jansen Syndrome	Anteverted nares, Short nose	OMIM:617991
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Corneal neovascularization, Hypertension, Keratitis, Opacification of...	OMIM:308205
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Aplasia/Hypoplasia of the external ear, Highly arched eyebrow, Low-set ears, Long eyelashes, Hear...	ORPHA:505237
Hypercholesterolemia, Familial, 1	Corneal arcus	OMIM:143890
Naegeli-Franceschetti-Jadassohn Syndrome	Nail dystrophy, Decreased number of sweat glands, Dystrophic toenail, Hypopigmentation of the ski...	ORPHA:69087
Focal Facial Dermal Dysplasia Type Iii	Hypopigmented skin patches, Highly arched eyebrow, Multiple cafe-au-lait spots, Distichiasis, Spa...	ORPHA:1807
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Short nose, Bulbous nose, Wide nasal bridge	OMIM:613604
Bazex-Dupre-Christol Syndrome	Narrow nasal ridge, Furrowed tongue, Underdeveloped nasal alae, Low hanging columella	OMIM:301845
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood, Atrophy/Degeneration affecting the brainstem	OMIM:615838
Duane-Radial Ray Syndrome	Microphthalmia, Aganglionic megacolon, Optic disc hypoplasia, Facial palsy, Retinal coloboma, Epi...	OMIM:607323
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis	ORPHA:27
Cree Mental Retardation Syndrome	Low-set ears, Coloboma, Posteriorly rotated ears	OMIM:606851
Stickler Syndrome, Type Iv	Astigmatism, Chorioretinal degeneration, Degenerative vitreoretinopathy, Rhegmatogenous retinal d...	OMIM:614134
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Short nose, Micrognathia, Prominent nasal bridge, Intrauterine growth retardation, Underdeveloped...	ORPHA:2083
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Generalized hypopigmentation, Spotty hyperpigmentation...	ORPHA:158681
Dermotrichic Syndrome	Short nose, Depressed nasal bridge	ORPHA:99688
Insensitivity To Pain, Congenital, With Anhidrosis	Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the...	OMIM:256800
Adenohypophysitis	Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Pituitary hy...	ORPHA:95512
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent corneal erosions, Photophobia, Corneal ulceration, Corneal scarring, Blindness, Keratit...	OMIM:148210
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Alopecia of scalp, Unilateral microphthalmos, Sparse eyelashes, Cafe-au-lait spot, Sparse eyebrow...	OMIM:618874
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft upper lip, Cleft palate	OMIM:179400
2Q31.1 Microdeletion Syndrome	Microphthalmia, Abnormal hair morphology, Coloboma, Synophrys, Low anterior hairline, Optic disc ...	ORPHA:251014
Joubert Syndrome 3	Retinal dystrophy, Highly arched eyebrow, Ptosis, Epicanthus, Pigmentary retinopathy	OMIM:608629
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Autosomal Recessive Spastic Paraplegia Type 15	Peripheral axonal neuropathy, Retinal flecks, Pigmentary retinopathy, Yellow/white lesions of the...	ORPHA:100996
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Nyctalopia	ORPHA:436274
Lacrimoauriculodentodigital Syndrome 2	Hearing impairment, Microtia, Cupped ear	OMIM:620192
Cataract 49	Posterior cortical cataract, Reduced visual acuity	OMIM:619593
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose	ORPHA:1389
Sanjad-Sakati Syndrome	Aplasia/Hypoplasia affecting the eye, Astigmatism, Corneal opacity	ORPHA:2323
Freeman-Sheldon Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Depressed nasal ridge	ORPHA:2053
Al Amyloidosis	Abnormal salivary gland morphology, Xerostomia, Abnormal autonomic nervous system physiology, Aut...	ORPHA:85443
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c...	OMIM:620651
Snakebite Envenomation	Hypopituitarism, Respiratory failure, Epistaxis	ORPHA:449285
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Depressed nasal bridge, Death in infancy	OMIM:614862
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Congenital blindness	ORPHA:436182
Schilbach-Rott Syndrome	Microtia, Posteriorly rotated ears	OMIM:164220
Intellectual Developmental Disorder, Autosomal Recessive 5	Prominent nose, Prominent nasal bridge, Wide nasal bridge, Underdeveloped nasal alae	OMIM:611091
Acromelic Frontonasal Dysostosis	Encephalocele, Midline facial cleft, Optic nerve hypoplasia, Cleft upper lip, Cleft palate, Submu...	OMIM:603671
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Elev...	OMIM:229070
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Poorly formed metencephalon, Aprosencephaly	OMIM:601374
Marcus-Gunn Syndrome	Coloboma, Abnormality of the sense of smell	ORPHA:91412
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Large earlobe, Microphthalmia	OMIM:602501
Microscopic Polyangiitis	Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericarditis, Peritonitis, Increased...	ORPHA:727
Harrod Syndrome	Hypopigmented skin patches, Intrauterine growth retardation, Cataract	ORPHA:2115
Facial Paresis, Hereditary Congenital, 3	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:614744
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure, Anteverted nares, Bulbous nose	OMIM:616505
Mitochondrial Complex I Deficiency, Nuclear Type 4	Blindness	OMIM:618225
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory failure, Wide nasal bridge, Choanal atresia	ORPHA:2759
Laurence-Moon Syndrome	Chorioretinal atrophy, Pigmentary retinopathy	OMIM:245800
Coffin-Lowry Syndrome	Optic atrophy, Downslanted palpebral fissures, Abnormality of retinal pigmentation, Epicanthus, C...	ORPHA:192
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Optic nerve hypoplasia, Abnormal thalamus morphology, Hypoplasia o...	ORPHA:300570
Scalp-Ear-Nipple Syndrome	Breast aplasia, Abnormal antihelix morphology, Small earlobe, Microtia, Underdeveloped tragus, Un...	ORPHA:2036
Coach Syndrome 1	Occipital encephalocele, Coloboma, Encephalocele, Optic disc pallor	OMIM:216360
Neuropathy, Congenital Hypomyelinating, 3	Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:618186
Fibular Hemimelia	Abnormal anterior chamber morphology, Anophthalmia	ORPHA:93323
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis	ORPHA:91416
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate, Lip pit	ORPHA:1072
Intellectual Developmental Disorder, Autosomal Dominant 1	Highly arched eyebrow, Microtia, Low-set ears, Low posterior hairline, Long eyelashes, Thick eyeb...	OMIM:156200
Distal Duplication 18Q	Anteverted nares, Short nose, Prominent nasal bridge, Choanal atresia	ORPHA:1716
Eales Disease	Photopsia, Vitreous floaters, Rubeosis iridis, Reduced visual acuity, Blindness	ORPHA:40923
Mandibulofacial Dysostosis, Guion-Almeida Type	Microtia, Low-set ears, Atresia of the external auditory canal, Conductive hearing impairment, Ov...	OMIM:610536
Auriculocondylar Syndrome	Aplasia/Hypoplasia of the external ear, Low-set, posteriorly rotated ears, Abnormal pinna morphol...	ORPHA:137888
Juvenile Paget Disease	Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus	ORPHA:2801
Ring Chromosome 12 Syndrome	Breast hypoplasia, Microtia, Hirsutism, Low-set ears, Dystrophic toenail	ORPHA:1439
Microsporidiosis	Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Nephritis, Pneumonia...	ORPHA:2552
Joubert Syndrome 4	Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Elongated superior cerebellar pe...	OMIM:609583
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation	OMIM:603194
Joubert Syndrome 35	Anteverted nares, Molar tooth sign on MRI, Depressed nasal bridge, Elongated superior cerebellar ...	OMIM:618161
Cone-Rod Dystrophy 10	Peripheral visual field loss, Progressive visual loss, Photophobia, Nyctalopia	OMIM:610283
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Intrauterine growth retar...	OMIM:611134
Weill-Marchesani Syndrome 2	Iridodonesis, Astigmatism, Microspherophakia, Lens luxation, High myopia, Ectopia lentis, Shallow...	OMIM:608328
Bardet-Biedl Syndrome 4	Nyctalopia	OMIM:615982
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short nose, Death in childhood, Wide nose, Anteverted nares, Death in infancy, Depressed nasal br...	OMIM:613320
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Bulbous nose, Prominent nasal bridge	OMIM:613870
Pseudopseudohypoparathyroidism	Cataract	OMIM:612463
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Short nose, Slender nose	OMIM:615419
Hypercholesterolemia, Familial, 2	Corneal arcus	OMIM:144010
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Rectal prolapse, Meconium ileus, Biliary cirr...	OMIM:219700
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Nail dysplasia, Breast hypoplasia, Small nail, Microtia, Oligozoospermia, Low-set ears, Posterior...	OMIM:614813
Meckel Syndrome 13	Occipital encephalocele, Molar tooth sign on MRI	OMIM:617562
Pallister-Hall-Like Syndrome	Short nose, Depressed nasal bridge, Death in infancy	OMIM:241800
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Retinitis Pigmentosa 89	Constriction of peripheral visual field, Nyctalopia	OMIM:618955
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Pericarditis, Endocarditis, Splenomegaly, Hepatitis, Infecti...	ORPHA:549
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Retinal calcification, Vitreoretinopathy, Exudative retinopathy, Iris atrophy, Ab...	OMIM:259770
Phakomatosis Pigmentokeratotica	Coloboma, Patchy alopecia, Melanocytic nevus, Spina bifida	ORPHA:2874
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Hypopigmentation of the skin, Corneal op...	ORPHA:79396
Triploidy	Meningocele, Hydrocephalus, Aplasia/Hypoplasia affecting the eye, Holoprosencephaly, Cataract, In...	ORPHA:3376
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Optic nerve compression, Thyroiditi...	ORPHA:79078
Monosomy 9Q22.3	Microphthalmia, Retinopathy, Downslanted palpebral fissures, Epicanthus, Cataract	ORPHA:77301
Adams-Oliver Syndrome	Microphthalmia, Hypoplastic fingernail, Encephalocele, Aplastic/hypoplastic toenail, Hydrocephalu...	ORPHA:974
Bardet-Biedl Syndrome 3	Visual impairment, Nyctalopia	OMIM:600151
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Recon Progeroid Syndrome	Hyperconvex thumb nails, Attached earlobe, Microtia, Hirsutism, Absent lower eyelashes	OMIM:620370
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Cholestasis, Cutaneous myxoma, Benign gastrointestinal trac...	ORPHA:562
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Filippi Syndrome	Wide nose, Broad columella, Prominent nasal bridge, Intrauterine growth retardation, Wide nasal b...	ORPHA:3255
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Pancreatitis, Minimal change glomerulonephritis, Abnormal inte...	ORPHA:1830
Late Infantile Neuronal Ceroid Lipofuscinosis	Astigmatism, Visual loss, Reduced visual acuity, Myopia, Blindness	ORPHA:168491
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Death in childhood, Death in infancy, Neonatal death, Respiratory failure	OMIM:614922
Propionic Acidemia	Hepatomegaly, Pancreatitis, Eczematoid dermatitis	OMIM:606054
Ullrich Congenital Muscular Dystrophy	Respiratory failure	ORPHA:75840
Macrocephaly-Intellectual Disability-Autism Syndrome	Short nose, Depressed nasal bridge	ORPHA:210548
Non-Distal Duplication 13Q	Aplasia/Hypoplasia affecting the eye, Short nose	ORPHA:1702
Achondrogenesis	Anteverted nares, Short nose	ORPHA:932
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:614299
Tetraamelia Syndrome 1	Microphthalmia, Single naris, Choanal atresia	OMIM:273395
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormal eyelash morphology, Abnormality of retinal pigmentation	ORPHA:2518
Curry-Jones Syndrome	High anterior hairline, Microphthalmia, Hirsutism, Lipomyelomeningocele, Occipital meningocele, I...	OMIM:601707
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Prominent nasal bridge, Wide nasal bridge	ORPHA:401935
Fanconi Anemia, Complementation Group F	Microphthalmia, Hyperpigmentation of the skin, Microtia, Cafe-au-lait spot, Conductive hearing im...	OMIM:603467
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Multiple lipomas, Pancreatitis, Primary hyperparathyroidism	OMIM:600740
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Small nail, Stenosis of the external auditory canal, Atresia of the external auditory canal, Cond...	OMIM:608257
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy	OMIM:605711
Joubert Syndrome 32	Molar tooth sign on MRI, Depressed nasal bridge	OMIM:617757
Diamond-Blackfan Anemia 10	Microtia, Low-set ears, Hearing impairment, Atresia of the external auditory canal, Conductive he...	OMIM:613309
Acrofrontofacionasal Dysostosis	Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Anonychia, Brushfield spots	ORPHA:1784
Seckel Syndrome 2	Microphthalmia, Few cafe-au-lait spots	OMIM:606744
Congenital Disorder Of Glycosylation, Type 2V	Retrognathia, Low hanging columella, High palate, Cleft palate, Bulbous nose, Wide nasal bridge, ...	OMIM:619493
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Coloboma	ORPHA:464288
Microcephalic Primordial Dwarfism, Dauber Type	Bilateral breast hypoplasia, Microtia, Primary amenorrhea	ORPHA:319675
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Blindness, Abnormally large globe	OMIM:603387
Joubert Syndrome 7	Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem, Encephalocele	OMIM:611560
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretina...	ORPHA:5
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae	OMIM:618223
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Microphthalmia, Arrhythmia	ORPHA:3191
Common Variable Immunodeficiency	Chronic otitis media, Lymphoma, Gastrointestinal stroma tumor, Bronchiectasis, Anal atresia, Abno...	ORPHA:1572
Bainbridge-Ropers Syndrome	Long nose, High, narrow palate, Low hanging columella, Prominent nasal bridge, Bulbous nose, Unde...	ORPHA:352577
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac...	ORPHA:284454
Keutel Syndrome	Wide nose, Underdeveloped nasal alae, Recurrent sinusitis, Depressed nasal bridge	ORPHA:85202
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Macular coloboma, Retinal coloboma	OMIM:107550
Familial Isolated Hypoparathyroidism	Cataract	ORPHA:2238
Porphyria Cutanea Tarda	Hyperpigmentation of the skin, Hirsutism, Hypopigmentation of the skin, Corneal scarring, Hypertr...	ORPHA:101330
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Metatropic Dysplasia	Respiratory insufficiency, Respiratory failure, Depressed nasal bridge	OMIM:156530
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Leukoencephalopathy With Vanishing White Matter 1	Blindness	OMIM:603896
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Short nose, Wide nasal bridge	OMIM:618437
Combined Oxidative Phosphorylation Defect Type 7	Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity	ORPHA:254930
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Panniculitis, Acute pancreatitis, Lymphoma, Astrocytoma, Hepatic steatosis	ORPHA:79086
Isolated Atp Synthase Deficiency	Cataract, Blindness	ORPHA:254913
Cockayne Syndrome Type 3	Premature graying of hair, Microphthalmia, Keratoconjunctivitis sicca, Retinal dystrophy, Corneal...	ORPHA:90324
Meier-Gorlin Syndrome 4	Breast hypoplasia, Microtia, Low-set ears	OMIM:613804
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal hypoplasia	OMIM:202150
Classic Mycosis Fungoides	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail, Alopecia	ORPHA:2584
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Astigmatism, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Optic nerve h...	OMIM:301056
Juvenile Neuronal Ceroid Lipofuscinosis	Large central visual field defect, Visual loss, Blindness	ORPHA:79264
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Nail dystrophy, Mixed hearing impairment, Microphthalmia, Small nail, Microtia, Hypoplastic nippl...	OMIM:620186
Caroli Syndrome	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatitis, Hepatomegaly, Liver abs...	ORPHA:480520
3Q29 Microdeletion Syndrome	Cataract, Abnormality of skin pigmentation, Downslanted palpebral fissures, Microphthalmia	ORPHA:65286
Neurodevelopmental Disorder With Spasticity And Poor Growth	Microtia, Hirsutism, Low-set ears, Synophrys, Long eyelashes, Nail pits, Large earlobe	OMIM:618076
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hypothyroidism, Pancreatitis, Iridocyclitis	ORPHA:412057
Kbg Syndrome	Anteverted nares, Cleft palate, Prominent nasal bridge, Underdeveloped nasal alae	ORPHA:2332
Al-Raqad Syndrome	Hypopigmentation of the skin	OMIM:616459
Knobloch Syndrome	Occipital encephalocele, Abnormal vitreous humor morphology, Abnormal hair morphology, Retinal de...	ORPHA:1571
Congenital Disorder Of Glycosylation, Type Iig	Stenosis of the external auditory canal, Microtia, Low-set ears, Conductive hearing impairment, P...	OMIM:611209
Joubert Syndrome 25	Molar tooth sign on MRI	OMIM:616781
Sarcosinemia	Congenital blindness	ORPHA:3129
Lipoid Proteinosis	Thick lower lip vermilion, High palate, Nasal polyposis, Abnormality of the gingiva, Abnormal ora...	ORPHA:530
Frontotemporal Dementia With Motor Neuron Disease	Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology	ORPHA:275872
Cystinosis	Corneal opacity	ORPHA:213
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short nose, Anteverted nares, Broad nasal tip, Narrow naris, Wide nasal bridge, Depressed nasal b...	OMIM:617157
Monosomy 9P	Microphthalmia, Thin nail, Highly arched eyebrow, Abnormal antihelix morphology, Microtia, Low-se...	ORPHA:261112
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches	ORPHA:1825
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short nose, Bilateral microphthalmos, Bulbous nose, Wide nasal bridge, Depressed nasal bridge	ORPHA:369891
Fg Syndrome Type 1	Sensorineural hearing impairment, Microtia, Stenosis of the external auditory canal, Optic nerve ...	ORPHA:93932
Leptin Receptor Deficiency	Abnormal hypothalamus morphology, Decreased response to growth hormone stimulation test, Pituitar...	OMIM:614963
Intellectual Developmental Disorder, X-Linked 21	Short nose	OMIM:300143
Hereditary Chronic Pancreatitis	Jaundice, Diabetes mellitus, Pancreatic calcification, Recurrent pancreatitis	ORPHA:676
Neuroferritinopathy	Iron accumulation in substantia nigra, Abnormal thalamic MRI signal intensity, T2 hypointense tha...	ORPHA:157846
Amyotrophic Lateral Sclerosis 21	Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later...	OMIM:606070
Garg-Mishra Progeroid Syndrome	Microphthalmia, High hypermetropia, Reduced visual acuity	OMIM:620601
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatomegaly, Pancreatitis	ORPHA:435651
Methanol Poisoning	Blindness, Visual impairment, Blurred vision	ORPHA:31825
Heimler Syndrome 1	Macular dystrophy, Leukonychia, Retinal pigment epithelial mottling, Beau's lines	OMIM:234580
Martsolf Syndrome 1	Congestive heart failure, Microphthalmia, Cardiomyopathy, Cardiac arrest, Developmental cataract,...	OMIM:212720
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Microphthalmia, Broad eyebrow, Small nail, Coloboma, Multiple cafe-au-lait spots, ...	OMIM:616975
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pancreatitis	ORPHA:70578
Hurler-Scheie Syndrome	Hepatomegaly, Aortic regurgitation, Corneal opacity, Pulmonary arterial hypertension, Splenomegal...	OMIM:607015
Familial Partial Lipodystrophy, Dunnigan Type	Pancreatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly	ORPHA:2348
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Short nose, Depressed nasal bridge	OMIM:614732
Flat Face-Microstomia-Ear Anomaly Syndrome	Long nose, High, narrow palate, Micrognathia, Malar flattening, Hypoplasia of the zygomatic bone,...	ORPHA:1968
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Splenomegaly, Hepatic steatosis	ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Stapes Ankylosis With Broad Thumbs And Toes	Long nose, Underdeveloped nasal alae, Low hanging columella	OMIM:184460
Zygomycosis	Myocarditis, Fasciitis, Pancreatitis, Gastritis, Acute infectious pneumonia, Splenic abscess, Hep...	ORPHA:73263
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Wide nasal bridge, Depressed nasal bridge	OMIM:607131
Blepharophimosis-Impaired Intellectual Development Syndrome	Wide nose, Narrow nasal ridge, Anteverted nares, Enamel hypoplasia, Dental malocclusion, Wide nas...	OMIM:619293
Hydrolethalus Syndrome 2	Hydrocephalus, Molar tooth sign on MRI, Anencephaly	OMIM:614120
Citrullinemia Type Ii	Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Hepatic fibrosis, Hepatic steatosis	ORPHA:247585
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Breast hypoplasia, Microtia, Low-set ears, Long eyelashes, Hearing impairment, Posteriorly rotate...	OMIM:601353
Fucosidosis	Corneal opacity	ORPHA:349
Achondrogenesis Type 1B	Anteverted nares, Short nose	ORPHA:93298
Lowry-Maclean Syndrome	Developmental glaucoma, Corneal opacity, Megalocornea	ORPHA:2409
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract, Macular degeneration	OMIM:619780
Foxp1 Syndrome	Short nose, Broad nasal tip, Prominent nasolabial fold, Recurrent upper respiratory tract infections	ORPHA:391372
Cousin Syndrome	Microphthalmia, Facial hirsutism, Stenosis of the external auditory canal, Low-set ears, Hearing ...	OMIM:260660
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Profound sensorineural hearing impairment, Microtia, first degree, Anteverted ears, Aplasia of th...	OMIM:610706
Roifman Syndrome	Intrauterine growth retardation, Anteverted nares, Underdeveloped nasal alae, Narrow nose	OMIM:616651
Familial Multiple Lipomatosis	Coloboma, Chorioretinitis	ORPHA:199276
Spondyloepiphyseal Dysplasia, Maroteaux Type	Opacification of the corneal stroma	OMIM:184095
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpus callosum	OMIM:614833
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Blindness	OMIM:618731
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Respiratory failure, Respiratory insufficiency due to muscle weakness, Spina bifida occulta	OMIM:618291
Congenital Syphilis	Myocarditis, Pancreatitis, High palate, Synovitis, Prolonged neonatal jaundice, Rhinitis, Hepatos...	ORPHA:499009
14Q22Q23 Microdeletion Syndrome	Anophthalmia, Micrognathia, Optic nerve aplasia, Malar flattening, Underdeveloped nasal alae	ORPHA:264200
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cataract, Buphthalmos	ORPHA:370997
Acrodysostosis 2 With Or Without Hormone Resistance	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:614613
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Myopia, Corneal dystrophy, High myopia, Nyctalopia	OMIM:617763
Microphthalmia, Syndromic 2	Microphthalmia, Anophthalmia, Retinal detachment, Microcornea, Remnants of the hyaloid vascular s...	OMIM:300166
Distal Triplication 15Q	Sensorineural hearing impairment, Abnormal helix morphology, Microtia, Low-set ears, Cupped ear	ORPHA:314588
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Corneal opacity, Cataract, Buphthalmos, Chorioretinal dysplasia, Abnormal pupil m...	ORPHA:534
Carney Triad	Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Adrenal overactivity, Gastrointestinal ...	ORPHA:139411
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Ring Chromosome 7 Syndrome	Short nose, Anteverted nares, Prominent nasal bridge, Narrow naris, Wide nasal bridge	ORPHA:1449
Sturge-Weber Syndrome	Corneal dystrophy, Abnormality of vision, Heterochromia iridis, Conjunctival telangiectasia, Hemi...	ORPHA:3205
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Joubert Syndrome 2	Molar tooth sign on MRI, Microphthalmia, Encephalocele, Elongated superior cerebellar peduncle, H...	OMIM:608091
Chromosome 19Q13.11 Deletion Syndrome, Distal	Short nose, Retrognathia, Anteverted nares, Carious teeth, Micrognathia, Intrauterine growth reta...	OMIM:613026
Deafness-Craniofacial Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Bifid tongue	ORPHA:3241
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Short nose	OMIM:619356
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Microphthalmia, Microcornea, Absent eyelashes, Zonular cataract, Absen...	OMIM:268400
Cutis Laxa, Autosomal Recessive, Type Iic	Anteverted nares, Broad columella, Broad nasal tip, Narrow naris, Concave nasal ridge	OMIM:617402
Hallermann-Streiff Syndrome	Microphthalmia, Sparse scalp hair, Spina bifida, Sparse eyelashes, Sparse eyebrow, Chorioretinal ...	OMIM:234100
Multiple Sulfatase Deficiency	Retinal degeneration, Corneal opacity	OMIM:272200
Obesity And Hypopigmentation	Red hair	OMIM:620195
Cat Eye Syndrome	Microphthalmia, Downslanted palpebral fissures, Chorioretinal coloboma, Epicanthus, Iris coloboma	OMIM:115470
Tetrasomy 18P	Short nose	ORPHA:3307
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Achondrogenesis Type 1A	Anteverted nares, Short nose	ORPHA:93299
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Sparse eyelashes, Sparse eyebrow, Downslanted palpebral fissures, Cataract	OMIM:302960
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Death in adolescence, Pigmentary retinopathy	OMIM:619059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Respiratory failure	OMIM:606612
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Inflammation of the large intestine, Spleno...	OMIM:232220
Fibrochondrogenesis 2	Anteverted nares, Short nose	OMIM:614524
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Respiratory failure, Cervical myelopathy, Myelopathy, Death in childhood	OMIM:617186
Superficial Siderosis	Anisocoria	ORPHA:247245
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity	ORPHA:363558
Holoprosencephaly-Craniosynostosis Syndrome	Short palpebral fissure, Abnormality of retinal pigmentation, Upslanted palpebral fissure, Epican...	ORPHA:2163
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A...	OMIM:620303
Autosomal Dominant Omodysplasia	Short nose, Depressed nasal bridge	ORPHA:93328
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria	OMIM:618653
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Cataract, High myopia, Blindness	OMIM:220500
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cataract, Visual impairment, Blindness, Central scotoma	ORPHA:543470
Chondrodysplasia Punctata, Autosomal Dominant	Cataract, Hypoplasia of the nasal bone	OMIM:118650
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Trichohepatoenteric Syndrome 1	Trichorrhexis nodosa, Brittle hair, Generalized hypopigmentation, Microtia, Low-set ears, Woolly ...	OMIM:222470
Cutis Laxa, Autosomal Recessive, Type Iid	Narrow naris, Bulbous nose, Wide nasal bridge	OMIM:617403
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Astigmatism, Aganglionic megacolon, Retinal dystrophy, H...	OMIM:209900
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Alg1-Cdg	Respiratory failure	ORPHA:79327
21Q22.11Q22.12 Microdeletion Syndrome	Nail dystrophy, Periorbital hyperpigmentation, Recurrent otitis media, Small nail, Microtia, Hypo...	ORPHA:261323
Mosaic Trisomy 8	Hypopigmented skin patches, Corneal opacity, Hypopigmentation of the skin	ORPHA:96061
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Short nose	ORPHA:2701
Porphyria, Congenital Erythropoietic	Loss of eyelashes, Hyperpigmentation of the skin, Hypopigmentation of the skin, Corneal scarring,...	OMIM:263700
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Blindness	OMIM:236270
Khan-Khan-Katsanis Syndrome	Trichiasis, Highly arched eyebrow, Corneal scarring, Epiblepharon, Buphthalmos, Peters anomaly, P...	OMIM:618460
Renal Coloboma Syndrome	Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma	ORPHA:1475
Fetal Trimethadione Syndrome	Short nose, Depressed nasal bridge	ORPHA:1913
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Respiratory failure, Recurrent upper respiratory tract infections	OMIM:620296
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short nose, Bulbous nose, Choanal atresia, Depressed nasal bridge	ORPHA:284169
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure	ORPHA:363400
Aicardi Syndrome	Optic atrophy, Microphthalmia, Retinal detachment, Sparse lateral eyebrow, Chorioretinal lacunae,...	OMIM:304050
Cockayne Syndrome	Optic atrophy, Microphthalmia, Decreased nerve conduction velocity, Keratoconjunctivitis sicca, R...	ORPHA:191
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia, Coloboma, Retinal coloboma, Abnormal optic disc morpholog...	ORPHA:508498
Chromosome Xp11.23-P11.22 Duplication Syndrome	Prominent nasal bridge, Underdeveloped nasal alae	OMIM:300801
Peroxisome Biogenesis Disorder 1A (Zellweger)	Pigmentary retinopathy, Epicanthus, Brushfield spots, Cataract, Opacification of the corneal stro...	OMIM:214100
Brittle Cornea Syndrome	Corneal erosion, Keratoglobus, Retinal detachment, Corneal dystrophy, Decreased corneal thickness...	ORPHA:90354
Townes-Brocks Syndrome 2	Microtia, Overfolded helix, Cupped ear	OMIM:617466
Fanconi Anemia, Complementation Group L	Microphthalmia, Microtia, Low-set ears, Cafe-au-lait spot, Anotia	OMIM:614083
Craniolenticulosutural Dysplasia	Punctate cataract, Posterior Y-sutural cataract	OMIM:607812
13Q12.3 Microdeletion Syndrome	Low insertion of columella, Malar flattening, Underdeveloped nasal alae, Intrauterine growth reta...	ORPHA:412035
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
46,Xy Sex Reversal 4	Sensorineural hearing impairment, Microtia, Recurrent otitis media, Hypergonadotropic hypogonadism	OMIM:154230
Trichothiodystrophy	Numerous pigmented freckles, Ridged nail, Aplasia/Hypoplasia of the nails, Umbilical hernia, Conc...	ORPHA:33364
Primary Ciliary Dyskinesia	Hydrocephalus, Nasal congestion, Nasal polyposis, Chronic rhinitis, Respiratory failure, Neonatal...	ORPHA:244
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Respiratory failure, Death in infancy	ORPHA:1194
Aicardi Syndrome	Optic atrophy, Microphthalmia, Retinal detachment, Sparse lateral eyebrow, Abnormality of skin pi...	ORPHA:50
Mucolipidosis Type Iii Alpha/Beta	Corneal opacity	ORPHA:423461
Dystonia-Deafness Syndrome 1	Cataract	OMIM:607371
Bainbridge-Ropers Syndrome	Short nose, Retrognathia, Anteverted nares, High palate, Intrauterine growth retardation, Intesti...	OMIM:615485
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Microtia, Low-set ears, Absent toenail, Macrotia, Posteriorly rotated ears	OMIM:620663
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short nose, Wide nasal bridge	OMIM:614078
Pontocerebellar Hypoplasia, Type 7	Optic atrophy, Hydrocephalus, Hirsutism, Hypopigmentation of the skin, Synophrys	OMIM:614969
Hennekam-Beemer Syndrome	Irregular hyperpigmentation, Microtia, Hearing impairment, Abnormality of skin pigmentation, Cond...	ORPHA:2135
Codas Syndrome	Anteverted nares, Midline defect of the nose, Short nose, Depressed nasal bridge	ORPHA:1458
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal motor neuron morphology, Amyotrophic lateral sclerosis	ORPHA:52430
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Meningocele, Anteverted nares, Glossoptosis, Underdeveloped nasal alae	ORPHA:2031
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Gillessen-Kaesbach-Nishimura Syndrome	Convex nasal ridge, Retrognathia, Micrognathia, Underdeveloped nasal alae	OMIM:263210
Isolated Succinate-Coq Reductase Deficiency	Reduced visual acuity, Blindness	ORPHA:3208
Rothmund-Thomson Syndrome Type 1	Nail dysplasia, Sparse or absent eyelashes, Hyperpigmentation of the skin, Juvenile cataract, Hyp...	ORPHA:221008
Ruijs-Aalfs Syndrome	Premature graying of hair, Posterior subcapsular cataract, Cataract, Sparse hair	OMIM:616200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Death in childhood, Death in adolescence, Pigmentary ...	OMIM:560000
Wolfram Syndrome, Mitochondrial Form	Blindness	OMIM:598500
Rothmund-Thomson Syndrome	Nail dysplasia, Small nail, Abnormality of the nail, Juvenile cataract, Hypopigmentation of the s...	ORPHA:2909
Neurofibromatosis Type 1	Hypopigmented skin patches, Inguinal freckling, Hydrocephalus, Abnormal hair quantity, Corneal op...	ORPHA:636
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Broad columella, Wide n...	OMIM:619383
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Microtia, Bilateral sensorineural hearing impairment, Atresi...	ORPHA:2306
Tarp Syndrome	Low-set ears, Microtia, Prominent antihelix, Posteriorly rotated ears	OMIM:311900
Kagami-Ogata Syndrome	Frontal hirsutism, Microtia	OMIM:608149
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Pancreatitis, Tubulointerstitial nephritis	OMIM:251000
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Primary hypercortisolism, Increased circulating cortisol level	OMIM:610475
Joubert Syndrome 10	Molar tooth sign on MRI, Wide nasal bridge	OMIM:300804
Ciliary Dyskinesia, Primary, 1	Abnormal cornea morphology	OMIM:244400
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Respiratory failure, Neonatal death, Depressed nasal bridge	OMIM:616482
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Developmental cataract, Bilateral microphthalmos	ORPHA:93325
Fraser Syndrome	Microphthalmia, Anal stenosis, Cleft ala nasi, Encephalocele, Anophthalmia, Underdeveloped nasal ...	ORPHA:2052
Trichorhinophalangeal Syndrome, Type Iii	Supernumerary tooth, Pear-shaped nose, Bulbous nose, Underdeveloped nasal alae	OMIM:190351
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Abnormally large globe, Microtia, Low-set ears, Low posterior hairline, Thick eyebrow, Prominent ...	OMIM:245600
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal thalamic MRI signal intensity, Atrophy/Degeneration involving the spinal cord	ORPHA:70595
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Microtia, Low-set ears, Synophrys, Uplifted earlobe, Low anterior hairline, Poste...	OMIM:616734
1Q21.1 Microdeletion Syndrome	Cataract, Microphthalmia, Iris coloboma	ORPHA:250989
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Death in childhood, Retinal pigment epithelial mottling	OMIM:619517
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Anteverted nares, Incisor macrodontia, High palate, Broad nasal tip, Wide nasal bridge, Underdeve...	ORPHA:438216
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Absence of Ste...	OMIM:129900
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure, Depressed nasal bridge	OMIM:617895
Joubert Syndrome 31	Molar tooth sign on MRI	OMIM:617761
Congenital Bile Acid Synthesis Defect Type 1	Nyctalopia	ORPHA:79301
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	High anterior hairline, Microphthalmia, Low-set ears, Synophrys, Sparse eyebrow, Thick eyebrow, P...	OMIM:620098
Hypotrichosis With Juvenile Macular Degeneration	Blindness	ORPHA:1573
Moebius Syndrome	Abnormality of the nail, Abnormal pinna morphology, Microphthalmia, Hypogonadotropic hypogonadism	OMIM:157900
Roifman Syndrome	Intrauterine growth retardation, Underdeveloped nasal alae, Narrow nasal bridge	ORPHA:353298
Meier-Gorlin Syndrome 2	Breast hypoplasia, Abnormal pinna morphology, Microtia	OMIM:613800
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Anosmia	ORPHA:1295
Surfactant Metabolism Dysfunction, Pulmonary, 1	Respiratory failure, Neonatal respiratory distress, Neonatal death, Death in infancy	OMIM:265120
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Short nose, Anteverted nares, Prominent nose, Wide nasal bridge, Depressed nasal bridge	OMIM:618316
Refsum Disease, Classic	Cataract, Nyctalopia	OMIM:266500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Pigmentary retinopathy	OMIM:613156
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Gapo Syndrome	Hypopigmented skin patches, Optic atrophy, Keratoconus, Sparse eyelashes, Sparse eyebrow, Umbilic...	ORPHA:2067
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy...	OMIM:616959
Maple Syrup Urine Disease, Type Ia	Pancreatitis	OMIM:248600
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Microphthalmia, Nuclear pulverulent cataract, Sutural cataract	OMIM:612474
Fetal Alcohol Syndrome	Anteverted nares, Short nose, Microphthalmia	ORPHA:1915
Periventricular Nodular Heterotopia 7	Anteverted nares, Short nose	OMIM:617201
Macular Dystrophy, Retinal, 3	Color vision defect, Reduced visual acuity, Central scotoma	OMIM:608850
Catel-Manzke Syndrome	Low insertion of columella, Narrow naris, Narrow nose	OMIM:616145
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Short nose, Bulbous nose	OMIM:616420
Igg4-Related Ophthalmic Disease	Prostatitis, Pancreatitis, Cholangitis, Sialadenitis, Thyroiditis, Lymphoma, Neoplasm of the lung...	ORPHA:449563
Oculodentodigital Dysplasia	Short nose, Microphthalmia, Low hanging columella, Narrow nasal bridge, Anteverted nares, Underde...	OMIM:164200
Van Maldergem Syndrome 2	High anterior hairline, Sensorineural hearing impairment, Microtia, Hypoplastic nipples, Stenosis...	OMIM:615546
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct...	OMIM:601346
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	ORPHA:216866
Gangliocytoma	Spinal cord tumor, Syringomyelia, Adrenocorticotropic hormone excess, Abnormal brainstem morpholo...	ORPHA:251937
Hermansky-Pudlak Syndrome 2	Generalized hypopigmentation, Aberrant melanosome maturation, Albinism, Fair hair, Ocular albinism	OMIM:608233
Rapp-Hodgkin Syndrome	Hypoplasia of the maxilla, Carious teeth, Enamel hypoplasia, Bifid uvula, Depressed nasal bridge,...	OMIM:129400
Donnai-Barrow Syndrome	Short nose, Depressed nasal bridge	ORPHA:2143
20Q11.2 Microduplication Syndrome	Thickened ears, Microtia, Low-set, posteriorly rotated ears	ORPHA:363659
Large Congenital Melanocytic Nevus	Hypopigmented skin patches, Congenital giant melanocytic nevus, Hydrocephalus, Abnormality of ski...	ORPHA:626
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Decreased distal sensory nerve action potential, Sensory axonal neuropathy, Abnormality of periph...	ORPHA:466768
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Optic atrophy, Palpebral edema, Epicanthus, Brushfield spots, Cataract, Op...	OMIM:614866
Igg4-Related Kidney Disease	Prostatitis, Pancreatitis, Sclerosing cholangitis, Arteritis, Sialadenitis, Thyroiditis, Lymphade...	ORPHA:449395
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ...	OMIM:613986
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten...	OMIM:208540
Hermansky-Pudlak Syndrome 4	Reduced visual acuity, Hypoplasia of the fovea, Ocular albinism	OMIM:614073
Autosomal Recessive Omodysplasia	Anteverted nares, Short nose, Depressed nasal bridge	ORPHA:93329
Williams Syndrome	Congestive heart failure, Hypertension, Corneal opacity, Megalocornea, Hypertrophic cardiomyopath...	ORPHA:904
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory failure	OMIM:250940
Joubert Syndrome 8	Ptosis, Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory failure, Fatigable weakness of neck muscles, Cardiorespiratory arrest, Depressed nasa...	ORPHA:26791
Ruvalcaba Syndrome	Underdeveloped nasal alae, Narrow nose	OMIM:180870
Mucolipidosis Ii Alpha/Beta	Death in childhood, Brittle hair, Hypopigmentation of the skin, Megalocornea, Sparse eyebrow, Spa...	OMIM:252500
Canavan Disease	Visual impairment, Blindness	OMIM:271900
Congenital Myopathy 21 With Early Respiratory Failure	Respiratory failure	OMIM:620326
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Choanal atresia, Cleft palate, Wide mouth, Abnormal parotid glan...	OMIM:154500
Glycogen Storage Disease Ia	Hepatomegaly, Hepatocellular carcinoma, Pancreatitis, Gout	OMIM:232200
Lymphedema-Hypoparathyroidism Syndrome	Cataract	OMIM:247410
Synostoses, Tarsal, Carpal, And Digital	Underdeveloped nasal alae	OMIM:186400
Rothmund-Thomson Syndrome Type 2	Nail dysplasia, Sparse or absent eyelashes, Hyperpigmentation of the skin, Juvenile cataract, Hyp...	ORPHA:221016
Meier-Gorlin Syndrome 3	Breast hypoplasia, Microtia, Low-set ears, Sparse pubic hair, Posteriorly rotated ears, Sparse ax...	OMIM:613803
Branchiooculofacial Syndrome	Premature graying of hair, Microphthalmia, Hypoplastic fingernail, Anophthalmia, Sensorineural he...	OMIM:113620
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Thick nasal alae	ORPHA:163961
Cohen Syndrome	Optic atrophy, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Downslanted palpe...	OMIM:216550
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Absent eyelashes, Microtia, Absent eyebrow, Hearing impairment, Abnormality of...	ORPHA:920
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Absence of Ste...	OMIM:604292
Myoclonic-Astatic Epilepsy	Hyperactivity, Attention deficit hyperactivity disorder, Microphthalmia	ORPHA:1942
Treacher Collins Syndrome 2	Fusion of middle ear ossicles, Conductive hearing impairment, Microtia, Anotia	OMIM:613717
Mucopolysaccharidosis, Type Ivb	Opacification of the corneal stroma, Corneal opacity	OMIM:253010
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, Hydrocephalus, Hypopigmentation of hair	ORPHA:53271
Visceral Myopathy 1	Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pancreatitis, Intestinal ...	OMIM:155310
Stickler Syndrome, Type I	Cataract, Myopia, Blindness	OMIM:108300
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Esophageal atresia, Rectovaginal fistula, Anophthalmia, Microgastria, Perineal fi...	ORPHA:2538
Meier-Gorlin Syndrome 5	Small earlobe, Microtia, Low-set ears	OMIM:613805
Adnp Syndrome	High anterior hairline, Abnormality of the nail, Microtia, Hirsutism, Low-set ears, Sparse scalp ...	ORPHA:404448
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Abnormal dental enamel morphology, Thick nasal alae, Pyloric ...	ORPHA:96169
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Respiratory insufficiency, Nasal congestion, Death in infancy, Respiratory failure, Neonatal resp...	OMIM:608836
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s...	ORPHA:177907
Acute Lung Injury	Pneumonia, Acute pancreatitis	ORPHA:178320
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Microcornea, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Developmenta...	ORPHA:464738
Charge Syndrome	Microphthalmia, Low-set, posteriorly rotated ears, Abnormality of the inner ear, Highly arched ey...	ORPHA:138
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Pancreatitis, Arthritis, Myeloproliferative disorder, Eczematoid de...	ORPHA:3260
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Corneal stromal edema, Corneal opacity, Shallow orbits, Hypermyelinated retinal n...	OMIM:601812
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Short nose, Delayed eruption of teeth, Anal atresia, Intrauterine gr...	ORPHA:2315
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Recurrent otitis media, Low-set ears, Hearing impairment, Posteriorly rotated ears	OMIM:618494
Familial Chylomicronemia Syndrome	Perianal abscess, Jaundice, Acute pancreatitis, Hepatosplenomegaly, Recurrent pancreatitis, Hepat...	ORPHA:444490
Leigh Syndrome	Respiratory failure, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intens...	ORPHA:506
Chédiak-Higashi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Large clumps of pigment irregularly distr...	ORPHA:167
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Tangier Disease	Opacification of the corneal stroma	OMIM:205400
Ogden Syndrome	High, narrow palate, Enlarged naris, Microretrognathia, Underdeveloped nasal alae, Short columella	ORPHA:276432
Infantile Nephropathic Cystinosis	Abnormal cornea morphology, Corneal crystals, Pigmentary retinopathy	ORPHA:411629
Fryns Syndrome	Microphthalmia, Corneal opacity	ORPHA:2059
Tetrasomy 12P	Anteverted nares, Short nose	ORPHA:884
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dysplasia, Nail dystrophy, Hyperpigmentation of the skin, Cataract, Alopecia	OMIM:175500
Sandhoff Disease, Infantile Form	Abnormal thalamic MRI signal intensity	ORPHA:309155
Slc35A2-Cdg	Intrauterine growth retardation, Hypopigmentation of the skin	ORPHA:356961
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, High palate, Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Clef...	OMIM:608670
Krabbe Disease	Blindness	OMIM:245200
Deafness-Vitiligo-Achalasia Syndrome	Hypopigmented skin patches	ORPHA:3239
Geleophysic Dysplasia 3	Anteverted nares, Respiratory failure, Bulbous nose, Wide nasal bridge, Depressed nasal bridge	OMIM:617809
Poikiloderma With Neutropenia	Short nose, Retrognathia, Carious teeth, Micrognathia, Recurrent sinusitis, Depressed nasal bridg...	OMIM:604173
Progeria-Short Stature-Pigmented Nevi Syndrome	Abnormal thalamus morphology	ORPHA:2959
Familial Mediterranean Fever	Intestinal obstruction, Pancreatitis, Arthritis, Skin rash, Pericarditis, Erysipelas, Splenomegal...	ORPHA:342
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Joubert Syndrome 18	Occipital encephalocele, Molar tooth sign on MRI	OMIM:614815
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Hypermelanotic macule, Nail dystrophy, Alopecia of scalp, Alopecia, Conjunctival telangiectasia, ...	OMIM:618373
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Peripheral axonal neuropathy, Sensory axonal neuropathy, Ptosis, Cataract, Retinal pigment epithe...	OMIM:607459
Farber Disease	Elevated circulating hepatic transaminase concentration, Intrahepatic cholestasis with episodic j...	ORPHA:333
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Nyctalopia	ORPHA:99947
Mend Syndrome	Microphthalmia, Telecanthus, Abnormal auditory evoked potentials, Cataract, Upslanted palpebral f...	ORPHA:401973
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling, Telecanthus	OMIM:617102
Pyruvate Dehydrogenase E1-Alpha Deficiency	Blindness	ORPHA:79243
Duplication Of The Pituitary Gland	Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Encephalocele, Abnormal mi...	ORPHA:314621
Late-Infantile/Juvenile Krabbe Disease	Visual impairment, Visual loss, Blindness	ORPHA:206443
Pneumocystosis	Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency	ORPHA:723
Dermatoosteolysis, Kirghizian Type	Keratitis, Nyctalopia	ORPHA:1657
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Momo Syndrome	Bilateral microphthalmos, Blindness	ORPHA:2563
Faciocardiorenal Syndrome	Cleft palate, Wide nasal bridge, Underdeveloped nasal alae	ORPHA:1973
17Q24.2 Microdeletion Syndrome	Recurrent otitis media, Secondary amenorrhea, Otosclerosis, Microtia, Synophrys, Thick eyebrow, P...	ORPHA:529962
Combined Oxidative Phosphorylation Deficiency 25	Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge	OMIM:616430
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Wide nasal bridge	OMIM:218000
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Gm1 Gangliosidosis	Optic atrophy, Corneal opacity, Cherry red spot of the macula, Abnormal retinal vascular morpholo...	ORPHA:354
Albers-Schönberg Osteopetrosis	Visual impairment, Blindness	ORPHA:53
Acrofacial Dysostosis, Rodríguez Type	Microtia	ORPHA:1788
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose	ORPHA:1129
Avian Influenza	Respiratory failure, Miscarriage, Myelitis	ORPHA:454836
Axial Mesodermal Dysplasia Spectrum	Microtia	ORPHA:1834
Alacrima, Congenital, Autosomal Dominant	Punctate corneal epithelial erosions, Lacrimal gland hypoplasia	OMIM:103420
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Short nose, Bulbous nose, Depressed nasal bridge	OMIM:618430
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Death in childhood, Abnormal retinal m...	OMIM:610758
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma	OMIM:251290
Heart And Brain Malformation Syndrome	Low-set ears, Attached earlobe, Microphthalmia, Posteriorly rotated ears	OMIM:616920
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Optic nerve dysplasia, Astigmatism	OMIM:617296
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Microtia, Low-set ears	OMIM:616723
Hsd10 Disease, Infantile Type	Visual loss, Blindness	ORPHA:391428
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure	OMIM:603689
Intellectual Developmental Disorder, Autosomal Dominant 53	Frontal upsweep of hair, Microtia	OMIM:617798
Dyskeratosis Congenita	Premature graying of hair, Hypopigmented skin patches, Hypermelanotic macule, Nail dystrophy, Apl...	ORPHA:1775
Joubert Syndrome With Oculorenal Defect	Visual impairment, Blindness, Iris coloboma	ORPHA:2318
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Increased hepatic glycogen content, Periodont...	ORPHA:79259
Aica-Ribosiduria	Congenital blindness	ORPHA:250977
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Rectal prolapse, Pancreatitis, Acute colitis, Intestinal perforation, Colonic stenosis, Peritonit...	ORPHA:90038
Niemann-Pick Disease, Type C2	Death in childhood, Respiratory insufficiency, Death in infancy, Respiratory failure, Neonatal re...	OMIM:607625
Melioidosis	Parotitis, Abnormal parotid gland morphology	ORPHA:31202
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve...	ORPHA:226307
Carpenter Syndrome 2	Anteverted nares, Narrow naris, Wide nasal bridge, Depressed nasal bridge	OMIM:614976
Hermansky-Pudlak Syndrome 11	Iris transillumination defect, Photophobia, Reduced visual acuity, Hypoplasia of the fovea, Ocula...	OMIM:619172
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:242860
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Abnormal pinna morphology, Microtia, Low-set ears, Low posterior hairline	OMIM:617925
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Bulbous nose, Depressed nasal bridge	ORPHA:261144
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98754
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Coloboma, Low-set ears, Sparse hair, Abnormality of the outer ear, Fine hair	ORPHA:251028
Hand-Foot-Genital Syndrome	Hypoplastic fifth toenail, Microtia	ORPHA:2438
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure	OMIM:602088
Periventricular Nodular Heterotopia 9	Microtia, Hirsutism, Synophrys, Posteriorly rotated ears, Squared superior portion of helix	OMIM:618918
Semilobar Holoprosencephaly	Single naris, Proboscis, Depressed nasal ridge	ORPHA:220386
Adult Krabbe Disease	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology	ORPHA:206448
Alobar Holoprosencephaly	Single naris, Proboscis, Depressed nasal ridge	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Single naris, Proboscis, Depressed nasal ridge	ORPHA:93926
Lobar Holoprosencephaly	Single naris, Proboscis, Depressed nasal ridge	ORPHA:93924
Congenital Tufting Enteropathy	Cataract, Optic disc coloboma, Corneal erosion, Punctate keratitis	ORPHA:92050
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Anteverted nares, Mandibular prognathia, Micrognathia, Depressed nasal bridge, Underdeveloped nas...	OMIM:619720
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Anteverted nares, Depressed nasal bridge	OMIM:617301
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair	ORPHA:2221
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure	OMIM:618233
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Retinoblastoma, Chorioretinal coloboma, Epicanthus, Iris coloboma	OMIM:613884
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Short nose, Choanal stenosis, Death in infancy	ORPHA:1790
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Pontocerebellar Hypoplasia, Type 10	Short nose, Low hanging columella, High palate, Bulbous nose, Wide nasal bridge, Underdeveloped n...	OMIM:615803
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Acute pancreatitis, Chilblains, Portal hypertension, Hypothyroidism, Pericarditis, ...	OMIM:619487
Squalene Synthase Deficiency	Optic nerve hypoplasia, Low-set ears, Abnormality of hair pigmentation, Macrotia, Posteriorly rot...	OMIM:618156
Cadds	Cataract	ORPHA:369942
Hepatoerythropoietic Porphyria	Loss of eyelashes, Hyperpigmentation of the skin, Scarring alopecia of scalp, Corneal ulceration,...	ORPHA:95159
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Anteverted nares, Short nose, Concave nasal ridge, Depressed nasal bridge	OMIM:613038
Xeroderma Pigmentosum	Hypopigmented skin patches, Optic atrophy, Hypermelanotic macule, Pterygium, Conjunctival telangi...	ORPHA:910
Mosaic Trisomy 1	Opacification of the corneal stroma, Microphthalmia	ORPHA:1692
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98793
Barber-Say Syndrome	Stenosis of the external auditory canal, Hypoplastic nipples, Low-set ears, Absent nipple, Sparse...	OMIM:209885
Fibrodysplasia Ossificans Progressiva	Respiratory insufficiency, Respiratory failure	OMIM:135100
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177904
Hurler Syndrome	Hepatomegaly, Aortic regurgitation, Corneal opacity, Cardiomyopathy, Hepatosplenomegaly, Splenome...	OMIM:607014
Arthrogryposis, Distal, Type 2A	Short nose, Spina bifida occulta, Mandibular prognathia, High palate, Malar flattening, Wide nasa...	OMIM:193700
Prolidase Deficiency	Concave nasal ridge, Short nose, Depressed nasal bridge	OMIM:170100
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Hydrocephalus, Brain stem ...	ORPHA:2495
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177901
Alagille Syndrome 1	Abnormal anterior chamber morphology, Band keratopathy, Chorioretinal atrophy, Microcornea, Axenf...	OMIM:118450
Ayme-Gripp Syndrome	Nail dystrophy, Broad eyebrow, Sensorineural hearing impairment, Microtia, Low-set ears, Sparse s...	OMIM:601088
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure	OMIM:620166
Bardet-Biedl Syndrome 6	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:605231
Van Maldergem Syndrome 1	Atresia of the external auditory canal, Sensorineural hearing impairment, Microtia, Conductive he...	OMIM:601390
Intellectual Developmental Disorder, Autosomal Dominant 73	Recurrent otitis media, Highly arched eyebrow, Microtia, Low-set ears, Anteverted ears, Synophrys...	OMIM:620450
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Micrognathia, High palate, Underdeveloped nasal alae, Low hanging columella	OMIM:300986
Abetalipoproteinemia	Corneal ulceration, Ptosis, Abnormality of retinal pigmentation, Hypopigmentation of the fundus, ...	ORPHA:14
Aymé-Gripp Syndrome	Breast hypoplasia, Sensorineural hearing impairment, Microtia, Stenosis of the external auditory ...	ORPHA:1272
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hypoplastic fingernail, Hyperpigmented/hypopigmented macules, Microtia, Synophrys, Prominent supe...	ORPHA:280633
Joubert Syndrome With Renal Defect	Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Anteverted nares, Prominent nasal bridge	ORPHA:220497
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, High palate, Hypoplasia of the maxilla, Micrognathia, Cleft pa...	ORPHA:1106
Bardet-Biedl Syndrome 17	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone ...	OMIM:615994
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Mucopolysaccharidosis Type 3	Abnormal temper tantrums, Hepatomegaly, Reduced left ventricular ejection fraction, Hyperactivity...	ORPHA:581
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose	OMIM:615539
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short nose, Abnormally large globe, Optic nerve hypoplasia, Prominent nasal bridge, Broad nasal t...	OMIM:300749
Peho Syndrome	Short nose	OMIM:260565
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Cafe-au-lait spot, Microtia, Areas of hypopigmentation and hyperpigmentation that do not follow B...	OMIM:210720
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Microtia, Curly eyelashes	OMIM:611717
Renpenning Syndrome 1	Microphthalmia, Death in childhood, Brittle hair, Coloboma, Sparse lateral eyebrow, Sparse hair, ...	OMIM:309500
Sim1-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398079
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Blepharospasm, Optic disc pallor, Pigmentary retinopathy	OMIM:617282
Prolidase Deficiency	Hirsutism, White forelock, Abnormal fingernail morphology, Abnormality of retinal pigmentation, L...	ORPHA:742
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Mirizzi Syndrome	Jaundice, Pancreatitis, Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Abnormal...	ORPHA:521219
Chromosome 16P13.3 Duplication Syndrome	Microtia, Hirsutism, Low-set ears, Synophrys, Macrotia, Low anterior hairline, Posteriorly rotate...	OMIM:613458
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Abnormality of retinal pigmentation	ORPHA:1496
Mowat-Wilson Syndrome	Microphthalmia, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Cataract, Iris coloboma	OMIM:235730
Corneodermatoosseous Syndrome	Corneal dystrophy, Hemeralopia, Photophobia, Nyctalopia	ORPHA:3194
19Q13.11 Microdeletion Syndrome	Intrauterine growth retardation, Retrognathia, Broad columella, Underdeveloped nasal alae	ORPHA:217346
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Molar tooth sign on MRI, Microphthalmia, Encephalocele, Respiratory insufficiency, Pr...	OMIM:616300
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Short nose	ORPHA:1185
Cogan Syndrome	Photophobia, Keratitis, Reduced visual acuity, Conjunctivitis, Blindness	ORPHA:1467
16P11.2P12.2 Microdeletion Syndrome	Long nose, Short nose, Anteverted nares, Bulbous nose, Absent nasal bridge	ORPHA:261211
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Microtia, Low-set ears	OMIM:277380
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Short nose, Narrow nasal bridge	ORPHA:544503
Multiple System Atrophy 1, Susceptibility To	Iris atrophy	OMIM:146500
Pallister-Hall Syndrome	Nail dysplasia, Microphthalmia, Microtia, Atresia of the external auditory canal, Posteriorly rot...	OMIM:146510
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma	OMIM:601853
Teebi Hypertelorism Syndrome 1	Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge	OMIM:145420
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Fatigable weakness of re...	ORPHA:2912
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Sensorineural hearing impairment, Microtia, Synophrys, Hearing impairment, Aplasia of the inner ear	ORPHA:90024
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Anteverted nares, Short nose, Wide nose	ORPHA:391408
Amoebiasis Due To Free-Living Amoebae	Abnormal brainstem MRI signal intensity, Hyposmia, Abnormal midbrain morphology, Abnormal medulla...	ORPHA:68
Pfeiffer Syndrome	Short nose, Choanal stenosis, Choanal atresia, Depressed nasal bridge	OMIM:101600
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas...	ORPHA:456312
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Corneal opacity, Multiple cafe-au-lait spots, Abnormality of skin pigmentation, H...	ORPHA:1052
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Sensorineural hearing impairment, Microtia, Posteriorly rotated ears	OMIM:301040
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Abnormal peripheral myelination, Retinal atro...	OMIM:216400
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Short nose, Low insertion of columella, Anteverted nares, Underdeveloped nasal alae, High palate,...	OMIM:619005
Hereditary Motor And Sensory Neuropathy, Type Iic	Respiratory failure, Intercostal muscle weakness	OMIM:606071
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflammation of the lar...	OMIM:232240
Microphthalmia, Syndromic 6	Microphthalmia, Retinal dystrophy, Anophthalmia, Microcornea, Sclerocornea	OMIM:607932
Peutz-Jeghers Syndrome	Esophageal neoplasm, Intestinal obstruction, Rectal prolapse, Abnormality of the nose, Neoplasm o...	ORPHA:2869
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Broad columella, Depressed nasal bridge	OMIM:617865
X-Linked Agammaglobulinemia	Hypopigmented skin patches, Conjunctivitis, Alopecia	ORPHA:47
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Nail dystrophy, Hirsutism, Low posterior hairline, Synophrys, Abnormal hair whorl, Spotty hypopig...	OMIM:300860
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Hypoplastic helices, Abnormal pinna morphology, Microtia, Low-set ears, Anteverted ears, Hearing ...	OMIM:617641
Koolen-De Vries Syndrome Due To A Point Mutation	Optic atrophy, Hydrocephalus, Hypopigmentation of the skin, Spina bifida, Cafe-au-lait spot, Deve...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Optic atrophy, Hydrocephalus, Hypopigmentation of the skin, Spina bifida, Cafe-au-lait spot, Deve...	ORPHA:363958
Pseudotrisomy 13 Syndrome	Microphthalmia, Cyclopia, Encephalocele, Hydrocephalus, Holoprosencephaly	OMIM:264480
Neuromuscular Oculoauditory Syndrome	Peripheral hypomyelination, Decreased nerve conduction velocity, Sensory axonal neuropathy, Decre...	OMIM:618733
Congenital Myopathy 10B, Mild Variant	Respiratory failure	OMIM:620249
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in adolescence, Death in infancy, Respiratory insufficiency due ...	OMIM:615512
Hallermann-Streiff Syndrome	Microphthalmia, Abnormality of hair texture, Uveitis, Sparse eyelashes, Sparse body hair, Sparse ...	ORPHA:2108
Trichohepatoneurodevelopmental Syndrome	Steatorrhea, Hepatomegaly, Recurrent otitis media, Cholelithiasis, High palate, Hypothyroidism, E...	OMIM:618268
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Corneal scarring, Conjunctivitis	OMIM:226600
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Short nose, Bulbous nose, Wide nasal bridge, Depressed nasal bridge	OMIM:617061
Dowling-Degos Disease	Inguinal freckling, Hypermelanotic macule, Progressive reticulate hyperpigmentation, Mixed hypo- ...	ORPHA:79145
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure	ORPHA:3226
Basal Cell Nevus Syndrome 1	Cataract, Microphthalmia, Iris coloboma	OMIM:109400
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Short nose, Broad nasal tip, Wide nasal bridge	OMIM:618529
White-Sutton Syndrome	Astigmatism, Hypermetropia, Visual impairment, Myopia, Blindness, Iris coloboma	ORPHA:468678
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoplasia of the pons, Respiratory failure	ORPHA:88618
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Intrauterine growth retardation, Aplasia/Hypoplasia of the optic nerve, Underdeveloped nasal alae	ORPHA:423479
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Short nose, Depressed nasal bridge	OMIM:617802
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI, Small pituitary gland, Neonatal respiratory distress, Wide nasal bridge,...	OMIM:619479
Teebi-Shaltout Syndrome	Hypoplastic helices, Microphthalmia, Highly arched eyebrow, Small earlobe, Slow-growing hair, Low...	OMIM:272950
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad eyebrow, Juvenile cataract, Hydrocephalus, Coloboma, Hypopigmentation of the skin, Synophry...	OMIM:619475
Coccidioidomycosis	Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Arthritis, Skin rash, Folliculitis, Per...	ORPHA:228123
Renal And Mullerian Duct Hypoplasia	Short nose	OMIM:266810
Leukocyte Adhesion Deficiency Type Ii	Recurrent otitis media, Broad eyebrow, Small earlobe, Microtia, Long eyelashes, Conductive hearin...	ORPHA:99843
Mucopolysaccharidosis Type 2	Optic atrophy, Decreased nerve conduction velocity, Corneal opacity, Retinopathy, Abnormal foveal...	ORPHA:580
47,Xyy Syndrome	Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydrocephalus	ORPHA:8
Oculodentodigital Dysplasia	Abnormality of the nose, Short nose, Narrow nasal bridge, Anteverted nares, Abnormal dental ename...	ORPHA:2710
Gaucher Disease, Perinatal Lethal	Microtia, Low-set ears	OMIM:608013
Cystinosis, Nephropathic	Recurrent corneal erosions, Hypopigmentation of hair, Hypopigmentation of the skin, Retinopathy, ...	OMIM:219800
Mullegama-Klein-Martinez Syndrome	Absent stapes, High anterior hairline, Curly eyelashes, Sensorineural hearing impairment, Microti...	OMIM:301022
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Chromomycosis	Hypopigmented skin patches, Keratitis, Keratoconjunctivitis sicca	ORPHA:182
Marshall-Smith Syndrome	Anteverted nares, Short nose, Choanal atresia	ORPHA:561
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Broad nasal tip, Wide nasal bridge, Abnormally large globe	OMIM:239300
Hydranencephaly	Atrophic pituitary gland, Optic nerve hypoplasia, Thalamic edema, Dysgenesis of the thalamus	ORPHA:2177
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Adrenoleukodystrophy	Visual loss, Blindness	OMIM:300100
Fabry Disease	Anorexia, Congestive heart failure, Cornea verticillata, Angina pectoris, Corneal dystrophy, Hype...	ORPHA:324
Bloom Syndrome	Hypopigmentation of the skin, Patchy alopecia, Sparse eyelashes, Cafe-au-lait spot, Retinopathy, ...	ORPHA:125
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Pancreatic hypoplasia, Impaired glucose tolerance, Glycosur...	OMIM:137920
Bohring-Opitz Syndrome	Optic atrophy, Coloboma, Retinal atrophy, Synophrys, Intrauterine growth retardation, Hypertrichosis	ORPHA:97297
Blau Syndrome	Iritis, Band keratopathy, Nongranulomatous uveitis, Cataract, Uveitis	OMIM:186580
Joubert Syndrome 6	Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Elo...	OMIM:610688
Joubert Syndrome 30	Molar tooth sign on MRI	OMIM:617622
Brachytelephalangic Chondrodysplasia Punctata	Short nose, Optic disc hypoplasia, Optic nerve hypoplasia, Thick nasal alae, Nasal congestion, De...	ORPHA:79345
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft palate, Unilateral cleft lip, Cleft soft palate	ORPHA:2736
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal thalamic MRI signal intensity	ORPHA:485421
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microtia, Microphthalmia, Low-set ears, Sparse hair	OMIM:620005
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Intrauterine growth retardation, Broad columella, Micrognathia, Underdeveloped nasal alae	ORPHA:166035
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose	OMIM:614261
Porphyria Variegata	Hypopigmentation of the skin, Hypertrichosis, Hyperpigmentation of the skin	ORPHA:79473
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Pancr...	OMIM:610199
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Anteverted nares, Short nose, Wide nasal bridge	OMIM:616897
Sarcoidosis	Enlarged lacrimal glands, Abnormality of the adrenal glands, Diabetes insipidus, Abnormal nasal m...	ORPHA:797
Spondylocarpotarsal Synostosis Syndrome	Cataract, Abnormality of retinal pigmentation	OMIM:272460
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Distichiasis, Pigmentary retinopathy	OMIM:600462
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Joubert Syndrome With Ocular Defect	Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Anteverted nares, Prominent nasal bridge	ORPHA:220493
Sponastrime Dysplasia	Cataract, Congenital aphakia, Microcoria, Intrauterine growth retardation	ORPHA:93357
Intellectual Developmental Disorder, X-Linked 98	Long nose, Short nose, Anteverted nares, Underdeveloped nasal alae, Mandibular prognathia, Promin...	OMIM:300912
Phakomatosis Pigmentovascularis	Hypopigmented skin patches, Generalized hyperpigmentation	ORPHA:2875
Igg4-Related Pachymeningitis	Pancreatitis, Parotitis, Lymphadenitis, Sinusitis, Nephritis	ORPHA:449427
Bardet-Biedl Syndrome 20	Constriction of peripheral visual field, Astigmatism, Hypermetropia, Hemeralopia, Nyctalopia	OMIM:619471
Eec Syndrome	Nail dystrophy, Corneal erosion, Slow-growing hair, Generalized hypopigmentation, Nail pits, Spar...	ORPHA:1896
Faundes-Banka Syndrome	Long ear, Broad eyebrow, Microtia, Low-set ears, Sparse scalp hair, Conductive hearing impairment...	OMIM:619376
Myhre Syndrome	Microphthalmia, Microtia, Low-set ears, Hearing impairment, Thick eyebrow, Sparse hair, Fine hair	OMIM:139210
2Q37 Microdeletion Syndrome	Anteverted nares, Underdeveloped nasal alae, Pyloric stenosis, Broad columella, Umbilical hernia,...	ORPHA:1001
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Visual loss, Reduced visual acuity, Cortical cataract, Amblyopia,...	ORPHA:637
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose	OMIM:618087
Non-Functioning Pituitary Adenoma	Progressive visual loss, Bitemporal hemianopia, Hemianopia, Heteronymous hemianopia, Sudden loss ...	ORPHA:91349
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Telecanthus, Long eyelashes, Abnormality of retinal pigmentation, Epicanthus, Conj...	ORPHA:505248
Granulomatosis With Polyangiitis	Chronic otitis media, Intestinal obstruction, Prostatitis, Pancreatitis, Inflammatory abnormality...	ORPHA:900
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Broad nasal tip, Underdeveloped nasal alae, Low hanging columella	ORPHA:404473
Chronic Actinic Dermatitis	Hypopigmented skin patches, Progressive hyperpigmentation	ORPHA:330064
Cranioectodermal Dysplasia 4	Nyctalopia, Visual impairment, Hypermetropia	OMIM:614378
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Corneal opacity	OMIM:620519
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Esophageal atresia, Ectopic anus, Anal atresia, Cleft upper lip, Long philtrum, Bi...	ORPHA:93271
Opitz-Kaveggia Syndrome	Sensorineural hearing impairment, Microtia, first degree, Sparse hair, Simple ear, Frontal upswee...	OMIM:305450
Microform Holoprosencephaly	Short nose, Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis	ORPHA:280200
Mucolipidosis Iii Alpha/Beta	Retinopathy, Opacification of the corneal stroma, Hyperopic astigmatism, Retinal degeneration	OMIM:252600
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:163746
Intellectual Disability And Myopathy Syndrome	Cafe-au-lait spot, Spotty hypopigmentation	OMIM:619719
Xfe Progeroid Syndrome	Visual impairment, Corneal scarring, Blindness	OMIM:610965
Behçet Disease	Acne, Pancreatitis, Recurrent aphthous stomatitis, Myositis, Optic neuritis, Arthritis, Increased...	ORPHA:117
Mucopolysaccharidosis Type 1	Retinopathy, Optic atrophy, Corneal opacity	ORPHA:579
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Umbilical hernia, Myopic astigmatism, Hypopigmentation of the skin, Synophrys	OMIM:301066
Meier-Gorlin Syndrome 1	Breast hypoplasia, Incomplete partition of the cochlea type II, Microtia, Low-set ears, Long eyel...	OMIM:224690
Infant Acute Respiratory Distress Syndrome	Respiratory failure	ORPHA:70587
Aceruloplasminemia	Elevated hepatic iron concentration, Diabetes mellitus, Abnormal pancreas morphology	ORPHA:48818
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory insufficiency, Respiratory failure	OMIM:613845
Fetal Hydantoin Syndrome	Short nose, Depressed nasal ridge	ORPHA:1912
Congenital Disorder Of Glycosylation, Type Il	Short nose, Depressed nasal bridge	OMIM:608776
Mucopolysaccharidosis, Type Ii	Ptosis, Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Muscular Dystrophy, Duchenne Type	Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:310200
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Pancreatitis, Lipoma	ORPHA:405
Pde4D Haploinsufficiency Syndrome	Prominent nose, Short nose, Prominent nasal tip, Depressed nasal bridge	ORPHA:439822
Werner Syndrome	Cataract, Alopecia of scalp, Retinal degeneration	OMIM:277700
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Aqueductal stenosis, Microphthalmia, Neonatal death	OMIM:251230
Magel2-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398069
Smith-Kingsmore Syndrome	Short nose, Depressed nasal bridge	OMIM:616638
Fraser Syndrome 2	Respiratory failure, Underdeveloped nasal alae, Microphthalmia, Wide nose	OMIM:617666
Acrodysostosis	Short nose, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Depressed nasal bridge	ORPHA:950
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529799
Cinca Syndrome	Visual impairment, Blindness	ORPHA:1451
Joubert Syndrome 38	Decreased response to growth hormone stimulation test, Ectopic posterior pituitary, Molar tooth s...	OMIM:619476
16P12.1P12.3 Triplication Syndrome	Short nose, Bulbous nose	ORPHA:485405
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Reduced visual acuity, Hypoplasia of the fovea, Ocular albinism	OMIM:614074
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Prominent nasal bridge, Wide nasal bridge	OMIM:619179
Schneckenbecken Dysplasia	Stillbirth, Short nose	OMIM:269250
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Maculopapular exanthema	ORPHA:319218
Smith-Magenis Syndrome	Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge	ORPHA:819
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Chronic rhinitis, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
De Barsy Syndrome	Cataract, Corneal opacity	ORPHA:2962
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin, Optic neuropathy	OMIM:620237
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hypothyroidism, Gout, Hepatic steatosis	ORPHA:412
Meckel Syndrome, Type 10	Occipital encephalocele, Molar tooth sign on MRI, Anencephaly	OMIM:614175
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in childhood	OMIM:220110
Meier-Gorlin Syndrome 6	Short nose, Anteverted nares, Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Micror...	OMIM:616835
Ear-Patella-Short Stature Syndrome	Breast aplasia, Microtia, third degree, Low-set ears, Hearing impairment, Atresia of the external...	ORPHA:2554
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microtia, Low-set ears	OMIM:613603
Congenital Disorder Of Deglycosylation 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Oral-pharyngeal dysphagia,...	OMIM:615273
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal toenail morphology, Exencephaly, Encephalocele	ORPHA:2211
Toxic Epidermal Necrolysis	Intestinal perforation, Pancreatitis, Tracheoesophageal fistula, Conjunctivitis	ORPHA:537
Severe X-Linked Intellectual Disability, Gustavson Type	Blindness	ORPHA:3078
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Generalized hypopigmentation, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, M...	ORPHA:1969
Prolactinoma	Sudden loss of visual acuity, Bitemporal hemianopia, Hemianopia, Heteronymous hemianopia, Progres...	ORPHA:2965
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pontocerebellar atrophy, Abnormal brainstem MRI signal intensity, Respiratory insufficiency, Resp...	ORPHA:258
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Abnormality of the diencephalon, Holoprosencephaly, Hydranencephaly	ORPHA:2570
Velocardiofacial Syndrome	Retrognathia, Velopharyngeal insufficiency, Cleft palate, Umbilical hernia, Submucous cleft hard ...	OMIM:192430
Wolf-Hirschhorn Syndrome	Chronic otitis media, High anterior hairline, Low-set, posteriorly rotated ears, Highly arched ey...	ORPHA:280
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Pancreatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly	ORPHA:280365
Cerebrofacioarticular Syndrome	Conductive hearing impairment, Microtia	ORPHA:314679
Idiopathic Pulmonary Hemosiderosis	Respiratory failure	ORPHA:99931
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Retinal dystrophy, Hydrocephalus, Generalized hypopigmentation, Optic nerve hypopl...	OMIM:619321
Epidermolysis Bullosa Simplex With Pyloric Atresia	Nail dystrophy, Microtia, Scarring alopecia of scalp	ORPHA:158684
Ruvalcaba Syndrome	Convex nasal ridge, Short nose	ORPHA:3121
3C Syndrome	Short nose, Wide nasal bridge, Depressed nasal bridge, Death in infancy	ORPHA:7
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Anteverted nares, Underdeveloped nasal alae, Depressed nasal bridge	OMIM:608624
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Abnormality of globe size, Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Roberts-Sc Phocomelia Syndrome	Stillbirth, Microphthalmia, Narrow naris, Wide nasal bridge, Underdeveloped nasal alae	OMIM:268300
Proximal Spinal Muscular Atrophy	Respiratory failure, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakn...	ORPHA:70
Brain Malformations With Or Without Urinary Tract Defects	Anteverted nares, Short nose	OMIM:613735
Pfeiffer Syndrome Type 1	Short nose, Depressed nasal bridge	ORPHA:93258
Intellectual Disability-Strabismus Syndrome	Prominent nose, Narrow nasal ridge, Short nose, Depressed nasal bridge	ORPHA:363528
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Microphthalmia, Posteriorly rotated ears	OMIM:241410
Chromosome 13Q33-Q34 Deletion Syndrome	Cafe-au-lait spot, Microphthalmia, Anencephaly, Encephalocele	OMIM:619148
Dend Syndrome	Short nose, Anteverted nares	ORPHA:79134
Au-Kline Syndrome	Short nose, Retrognathia, Bifid nasal tip, High palate, Lipomyelomeningocele, Bifid uvula, Wide n...	OMIM:616580
Van Den Ende-Gupta Syndrome	High, narrow palate, High palate, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Depresse...	OMIM:600920
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis	OMIM:277450
Antley-Bixler Syndrome	Anteverted nares, Short nose, Choanal atresia	ORPHA:83
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Short nose	OMIM:617877
Faciodigitogenital Syndrome, Autosomal Recessive	Hearing impairment, Microtia, Posteriorly rotated ears, Widow's peak	OMIM:227330
Meier-Gorlin Syndrome 7	Breast aplasia, Sensorineural hearing impairment, Microtia, Low-set ears, Hearing impairment, Thi...	OMIM:617063
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short nose, Buphthalmos, Wide nasal bridge	OMIM:618005
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory insufficiency, Respiratory failure	OMIM:609015
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Corneal opacity, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality...	ORPHA:217085
Stevens-Johnson Syndrome	Esophageal stricture, Pancreatitis, Conjunctivitis	ORPHA:36426
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory failure, Neonatal respiratory distress, Neonatal death, Death in infancy	OMIM:610921
Campomelia, Cumming Type	Pancreatic cysts, Polysplenia, Polycystic liver disease	OMIM:211890
Congenital Multicore Myopathy With External Ophthalmoplegia	Respiratory failure	ORPHA:98905
Joubert Syndrome 1	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Anteverted nares, Brainstem dysp...	OMIM:213300
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Ptosis, Pigmentary retinopathy	ORPHA:436271
Ataxia-Telangiectasia	Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair	ORPHA:100
Severe Congenital Nemaline Myopathy	Respiratory failure	ORPHA:171430
Mucopolysaccharidosis, Type Vii	Corneal opacity	OMIM:253220
Kabuki Syndrome	Highly arched eyebrow, Hydrocephalus, Microcornea, Coloboma, Long eyelashes, Sparse lateral eyebrow	ORPHA:2322
Rubinstein-Taybi Syndrome 1	Broad eyebrow, Spina bifida occulta, Highly arched eyebrow, Coloboma, Hirsutism, Low posterior ha...	OMIM:180849
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal salivary gland morphology, Optic neuropathy, Inflammation of t...	OMIM:181000
Achondrogenesis, Type Ia	Stillbirth, Short nose, Anteverted nares, Hypoplastic nasal bridge, Depressed nasal bridge	OMIM:200600
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short nose, Depressed nasal bridge	OMIM:619833
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ...	OMIM:619761
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Respiratory failure, Anteverted nares, Depressed nasal bridge	ORPHA:254528
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Long nose, Underdeveloped nasal alae, Retrognathia, Depressed nasal bridge	ORPHA:457351
Osteopathia Striata With Cranial Sclerosis	Microtia, Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Overfolded helix	OMIM:300373
Leiomyomatosis, Diffuse, With Alport Syndrome	Cataract, Lenticonus, Anterior lenticonus	OMIM:308940
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Blindness	ORPHA:713
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Corneal dystrophy, Corneal opacity, Buphthalmos, Keratoconjunctivitis sicca	ORPHA:495875
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Broad nasal tip, Wide nasal bridge	OMIM:614749
Desbuquois Dysplasia 1	Concave nasal ridge, Short nose, Depressed nasal bridge	OMIM:251450
Pontocerebellar Hypoplasia, Type 2E	Short nose, Wide nose	OMIM:615851
Cerebellar-Facial-Dental Syndrome	Anteverted nares, Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainst...	ORPHA:444072
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Corneal opacity, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality...	ORPHA:217093
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Orofaciodigital Syndrome I	Supernumerary tooth, Hamartoma of tongue, High palate, Ankyloglossia, Myelomeningocele, Carious t...	OMIM:311200
Radio-Renal Syndrome	Convex nasal ridge, Respiratory failure, Depressed nasal bridge	ORPHA:3015
Alstrom Syndrome	Cone/cone-rod dystrophy, Subcapsular cataract, Attenuation of retinal blood vessels, Pigmentary r...	OMIM:203800
Spinocerebellar Ataxia Type 7	Visual loss, Photophobia, Hemeralopia, Reduced visual acuity, Blindness	ORPHA:94147
Mucopolysaccharidosis, Type Vi	Pulmonary insufficiency, Hepatomegaly, Sinus tachycardia, Corneal opacity, Cardiomyopathy, Pulmon...	OMIM:253200
Hurler Syndrome	Hepatomegaly, Angina pectoris, Hypertension, Corneal opacity, Cardiomyopathy, Splenomegaly	ORPHA:93473
Laurin-Sandrow Syndrome	Abnormality of the nose, Depressed nasal ridge, Prominent nose, Underdeveloped nasal alae, Short ...	ORPHA:2378
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later...	OMIM:205100
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Cyclopia, Encephalocele, Hydrocephalus, Holoprosencephaly, Umbilical hernia	ORPHA:2166
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Anteverted nares, Short nose, Depressed nasal bridge	ORPHA:314655
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Blindness	ORPHA:95433
Bloom Syndrome	Hypopigmentation of the skin, Cafe-au-lait spot, Intrauterine growth retardation, Hypertrichosis,...	OMIM:210900
Ciliary Dyskinesia, Primary, 19	Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Nasal polyposis	OMIM:614935
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Depressed nasal bridge	OMIM:617563
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory failure	ORPHA:2707
19P13.13 Microdeletion Syndrome	Anteverted nares, Short nose, Optic nerve hypoplasia, Depressed nasal bridge	ORPHA:357001
Toluene Embryopathy	Short nose	ORPHA:1920
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Pancreatitis, Splenic cyst, High palate, Hepatic sinusoidal dilatation	OMIM:620371
Galloway-Mowat Syndrome	Macrotia, Hypoplasia of the ear cartilage	ORPHA:2065
Asbestos Intoxication	Respiratory failure	ORPHA:2302
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Retrognathia, Intrauterine growth retardation, Prominent nose, Wide nasal bridge, Underdeveloped ...	ORPHA:2637
Fibrochondrogenesis 1	Stillbirth, Anteverted nares, Short nose, Depressed nasal bridge	OMIM:228520
Thauvin-Robinet-Faivre Syndrome	Sensorineural hearing impairment, Coloboma, Retinal coloboma, Macrotia, Protruding ear	OMIM:617107
Tay-Sachs Disease	Blindness	OMIM:272800
Distal Deletion 12Q	Small nail, Prominent ear helix, Microtia, Bilateral conductive hearing impairment, Low-set ears,...	ORPHA:96149
Kearns-Sayre Syndrome	Ptosis, Pigmentary retinopathy	OMIM:530000
Tangier Disease	Corneal opacity	ORPHA:31150
Infantile Neuroaxonal Dystrophy	Blindness	ORPHA:35069
Van Esch-O'Driscoll Syndrome	Protruding ear, Microtia, Hypogonadotropic hypogonadism	OMIM:301030
Congenital Erythropoietic Porphyria	Loss of eyelashes, Hyperpigmentation of the skin, Scarring alopecia of scalp, Corneal ulceration,...	ORPHA:79277
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Meningo...	ORPHA:397715
Plasminogen Deficiency, Type I	Blindness, Conjunctivitis	OMIM:217090
Scedosporiosis	Respiratory failure	ORPHA:449280
Charge Syndrome	Mixed hearing impairment, Iris coloboma, Microphthalmia, Anophthalmia, Sensorineural hearing impa...	OMIM:214800
Adenylosuccinase Deficiency	Anteverted nares, Short nose	OMIM:103050
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Optic nerve hypoplasia, Corneal opacity, Megalocornea, Optic disc...	ORPHA:536471
Macrocephaly/Autism Syndrome	Short nose, Depressed nasal bridge	OMIM:605309
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Intrauterine growth retardation, Branchial anomaly, Coloboma	ORPHA:453499
Moebius Syndrome	Corneal opacity	ORPHA:570
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Pancreatitis, Acute colitis, Intestinal perforation, Septic arthritis, Pneumonia, In...	ORPHA:544482
Lethal Ataxia With Deafness And Optic Atrophy	Visual impairment, Blindness	ORPHA:1187
Encephalocraniocutaneous Lipomatosis	Retinopathy, Corneal opacity, Iris coloboma	ORPHA:2396
Malan Syndrome	Short nose	OMIM:614753
Atypical Werner Syndrome	Premature graying of hair, Abnormal hair morphology, Abnormal hair quantity, White forelock, Frag...	ORPHA:79474
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc...	ORPHA:308552
Osteopetrosis, Autosomal Recessive 1	Visual impairment, Blindness	OMIM:259700
Neurodegeneration With Brain Iron Accumulation 2A	Short nose	OMIM:256600
Blau Syndrome	Abnormal cranial nerve morphology, Abnormal salivary gland morphology, Facial palsy, Xerostomia	ORPHA:90340
Staphylococcal Necrotizing Pneumonia	Respiratory failure	ORPHA:36238
Fanconi Anemia, Complementation Group N	Cafe-au-lait spot, Microphthalmia, Hyperpigmentation of the skin	OMIM:610832
Infantile Krabbe Disease	Photophobia, Visual loss, Blindness	ORPHA:206436
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:615398
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Highly arched eyebrow, Hearing impairment, Microtia	ORPHA:2282
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Anteverted nares, Adrenocorticotropic horm...	ORPHA:293987
Ablepharon-Macrostomia Syndrome	Hypoplastic fingernail, Absent eyelashes, Hypoplastic nipples, Microtia, third degree, Low-set ea...	OMIM:200110
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage, Abnormal conus terminalis morphology	ORPHA:464321
Kagami-Ogata Syndrome	Frontal hirsutism, Microtia	ORPHA:254519
Pantothenate Kinase-Associated Neurodegeneration	Blindness, Peripheral visual field loss, Visual field defect, Visual impairment, Nyctalopia	ORPHA:157850
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Choanal atresia, Ankyloglossia, Pyloric stenosis, Cleft palate, Prominent na...	ORPHA:261330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Optic atrophy, Microphthalmia, Astigmatism, Microcornea, Axenfeld anomaly, Iris atrophy, Retinal ...	ORPHA:261552
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Branchial anomaly, Optic nerve hypoplasia, Coloboma, Abnormal optic nerve morphology, Supernumera...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Branchial anomaly, Optic nerve hypoplasia, Coloboma, Abnormal optic nerve morphology, Supernumera...	ORPHA:352665
Car T Cell Therapy-Associated Cytokine Release Syndrome	Respiratory failure	ORPHA:542323
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Hypopigmented skin patches, Nail dystrophy, Dystrophic fingernails, ...	ORPHA:2907
Autoimmune Polyendocrinopathy Type 2	Hypopigmented skin patches, Alopecia	ORPHA:3143
Cutis Laxa, Autosomal Recessive, Type Iiib	Pyloric stenosis, Narrow nasal ridge, Intrauterine growth retardation, Underdeveloped nasal alae	OMIM:614438
Acute Interstitial Pneumonia	Respiratory failure	ORPHA:79126
Degcags Syndrome	Premature graying of hair, Microphthalmia, Hypopigmentation of hair, Abnormal eyelash morphology,...	OMIM:619488
Tetrasomy 5P	Anteverted nares, Short nose, Wide nasal bridge	ORPHA:3309
Cartilage-Hair Hypoplasia	Aplasia/Hypoplasia affecting the eye, Sparse eyebrow, Abnormality of retinal pigmentation, Sparse...	ORPHA:175
Robinow Syndrome, Autosomal Recessive 1	Nail dysplasia, Small nail, Microtia, Low-set ears, Long eyelashes, Hearing impairment, Posterior...	OMIM:268310
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Astigmatism, Corneal opacity, Optic disc pallor	ORPHA:464311
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, Heterochromia iridis, White forelock, White eyelashes, White eyebrow	OMIM:609136
Alkuraya-Kucinskas Syndrome	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:617822
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Keratoconjunctivitis	OMIM:269200
Mandibuloacral Dysplasia With Type B Lipodystrophy	Narrow nasal ridge, Short nose, Death in early adulthood	OMIM:608612
Orofaciodigital Syndrome Type 6	Prominent nasal bridge, Hypothalamic hamartoma, Broad nasal tip, Molar tooth sign on MRI	ORPHA:2754
Combined Oxidative Phosphorylation Deficiency 3	Respiratory insufficiency, Respiratory failure, Death in childhood, Death in infancy	OMIM:610505
Aarskog-Scott Syndrome	Anteverted nares, Short nose, Wide nasal bridge	OMIM:305400
Opsismodysplasia	Short nose, Depressed nasal bridge	ORPHA:2746
Marshall Syndrome	Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge	ORPHA:560
Diaphanospondylodysostosis	Depressed nasal ridge, Short nose, Depressed nasal bridge	OMIM:608022
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cafe-au-lait spot, Hypopigmented skin patches, Curly hair	ORPHA:457485
3-Methylglutaconic Aciduria Type 7	Respiratory failure	ORPHA:445038
Alpha-Mannosidosis, Infantile Form	Cataract, Astigmatism, Corneal opacity	ORPHA:309282
Localized Scleroderma	Hypopigmented skin patches, Hyperpigmentation of the skin, Patchy alopecia, Vitiligo, Abnormal sk...	ORPHA:90289
Neonatal Marfan Syndrome	Iridodonesis, Ectopia lentis, Megalocornea	ORPHA:284979
Pauci-Immune Glomerulonephritis	Pancreatitis, Arteritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, ...	ORPHA:93126
Fanconi Anemia, Complementation Group A	Male infertility, Microphthalmia, Hypergonadotropic hypogonadism, Cafe-au-lait spot, Abnormality ...	OMIM:227650
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nyctalopia	OMIM:615630
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory failure, Death in childhood, Death in infancy	OMIM:620278
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Broad nasal tip, Wide nasal bridge	OMIM:614207
Melas	Hypothyroidism, Hypoparathyroidism, Intestinal pseudo-obstruction, Recurrent pancreatitis	ORPHA:550
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Respiratory failure	ORPHA:3240
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Acute pancreatitis, Lipid accumulation in hepatocytes, Hepatomegaly	ORPHA:20
Temtamy Preaxial Brachydactyly Syndrome	Short nose, Abnormally large globe	ORPHA:363417
Jaberi-Elahi Syndrome	Short nose, Depressed nasal bridge	OMIM:617988
Tay-Sachs Disease	Abnormal thalamic MRI signal intensity	ORPHA:845
Microphthalmia, Syndromic 1	Microphthalmia, Ciliary body coloboma, Anophthalmia, Microcornea, Chorioretinal coloboma, Optic d...	OMIM:309800
Mednik Syndrome	Cataract, Death in childhood, Neonatal death, Death in infancy	OMIM:609313
Raine Syndrome	Short nose, Choanal atresia, Death in infancy, Neonatal death, Choanal stenosis, Depressed nasal ...	OMIM:259775
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:496641
Mitochondrial Trifunctional Protein Deficiency	Respiratory insufficiency, Respiratory failure	ORPHA:746
Tbck-Related Intellectual Disability Syndrome	Corneal opacity	ORPHA:488632
Marden-Walker Syndrome	Ptosis, Microphthalmia, Blepharophimosis, Epicanthus	OMIM:248700
Saul-Wilson Syndrome	Cataract, Nyctalopia	OMIM:618150
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology	OMIM:601162
Neu-Laxova Syndrome 1	Short umbilical cord, Microphthalmia, Stillbirth, Small placenta, Pterygium, Hydranencephaly, Abs...	OMIM:256520
Osteopetrosis, Autosomal Recessive 2	Blindness	OMIM:259710
Holoprosencephaly 2	Semilobar holoprosencephaly, Microphthalmia, Cyclopia, Alobar holoprosencephaly, Remnants of the ...	OMIM:157170
Primrose Syndrome	Posterior polar cataract	OMIM:259050
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short nose, Mandibular prognathia, Micrognathia, Depressed nasal bridge, Underdeveloped nasal alae	OMIM:616007
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Microtia, Aplasia/Hypoplasia of the nails, Posteriorly rotated ears	ORPHA:163979
Immunodeficiency 13	Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections	OMIM:615518
Asparagine Synthetase Deficiency	Optic nerve hypoplasia, Cerebral visual impairment, Blindness	OMIM:615574
Witteveen-Kolk Syndrome	Cataract, Microphthalmia, Iris coloboma, Anisocoria	OMIM:613406
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Diarrhea 10, Protein-Losing Enteropathy Type	Coloboma, Death in infancy	OMIM:618183
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure	OMIM:620327
Nijmegen Breakage Syndrome	Upslanted palpebral fissure, Conjunctival telangiectasia, Cafe-au-lait spot, Progressive vitiligo...	OMIM:251260
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Short nose	OMIM:219200
Craniofacioskeletal Syndrome	Microtia, Posteriorly rotated ears	OMIM:300712
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Anteverted nares, Death in infancy, Abnormal pons morphology, Respiratory failure, Depressed nasa...	OMIM:300868
Ciliary Dyskinesia, Primary, 22	Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Nasal polyposis	OMIM:615444
Lathosterolosis	Cataract, Opacification of the corneal stroma, Microcornea	ORPHA:46059
Ciliary Dyskinesia, Primary, 30	Absent outer dynein arms, Nasal congestion, Nasal polyposis	OMIM:616037
Thalidomide Embryopathy	Hearing impairment, Anotia, Abnormality of the outer ear	ORPHA:3312
Fanconi Anemia, Complementation Group E	Cafe-au-lait spot, Microphthalmia, Hyperpigmentation of the skin	OMIM:600901
Combined Oxidative Phosphorylation Deficiency 37	Respiratory insufficiency, Respiratory failure	OMIM:618329
Senior-Loken Syndrome 3	Congenital blindness, Visual loss	OMIM:606995
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Mercury Poisoning	Respiratory failure	ORPHA:330021
Seckel Syndrome 10	Acute pancreatitis, Hepatic steatosis, Elevated circulating luteinizing hormone level, Elevated c...	OMIM:617253
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Anteverted nares, Short nose, Wide nasal bridge	OMIM:614701
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Narrow nasal ridge, Retrognathia, Micrognathia, Underdeveloped nasal alae	OMIM:618343
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Trichiasis, Nail dystrophy, Corneal erosion, Hyperpigmentation of the skin, Hypopigmentation of t...	ORPHA:95455
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Long nose, Short nose, Depressed nasal bridge	OMIM:618590
Mccune-Albright Syndrome	Blindness	OMIM:174800
Laurin-Sandrow Syndrome	Underdeveloped nasal alae	OMIM:135750
Fanconi Anemia, Complementation Group C	Cafe-au-lait spot, Microphthalmia, Intrauterine growth retardation, Hyperpigmentation of the skin	OMIM:227645
Orofaciodigital Syndrome Vi	Molar tooth sign on MRI, Hypothalamic hamartoma, Broad nasal tip, Occipital meningocele	OMIM:277170
X-Linked Intellectual Disability, Nascimento Type	Nail dystrophy, Lumbar hypertrichosis, Low posterior hairline, Synophrys, Generalized hirsutism, ...	ORPHA:163956
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Cirrhosis, Pancreatitis, Hepatomegaly, Ste...	ORPHA:470
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Exocrine pancreatic insufficiency, Hepatic fibrosis, Diabetes ...	OMIM:616263
Distal Deletion 10Q	Prominent nose, Short nose, Prominent nasal bridge, Wide nasal bridge	ORPHA:96148
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea	OMIM:619869
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Coloboma	ORPHA:47159
Cenani-Lenz Syndrome	Convex nasal ridge, Short nose	ORPHA:3258
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Occipital meningocele, Hypoplasia of the bra...	OMIM:616546
Pfeiffer Syndrome Type 2	Short nose, Choanal atresia, Depressed nasal bridge	ORPHA:93259
Peutz-Jeghers Syndrome	Rectal prolapse, Neoplasm of the pancreas, Oral melanotic macule, Labial melanotic macule, Precoc...	OMIM:175200
Arterial Tortuosity Syndrome	Respiratory failure, Short nose, Cardiorespiratory arrest	ORPHA:3342
Turnpenny-Fry Syndrome	Microtia, Low-set ears, Sparse scalp hair, Conductive hearing impairment, Melanocytic nevus, Saty...	OMIM:618371
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Sensorineural hearing impairment, Microtia, Conductive hearing impairment, Low-set ears	OMIM:618500
Momo Syndrome	Blindness	OMIM:157980
Kikuchi-Fujimoto Disease	Oral ulcer, Enlargement of parotid gland	ORPHA:50918
Carney Complex, Type 1	Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling	OMIM:160980
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Macular coloboma, Hydrocephalus, Abnormality of macular pigmentation, Intrauterine...	ORPHA:79282
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Nail dystrophy, Abnormality of the nail, Abnormal fingernail morpholo...	ORPHA:678
Fetal And Neonatal Alloimmune Thrombocytopenia	Blindness	ORPHA:853
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Pearson Syndrome	Hyperpigmentation of the skin, Corneal stromal edema, Cafe-au-lait spot, Ptosis, Cataract, Pigmen...	ORPHA:699
Wilson Disease	Sunflower cataract, Jaundice, Portal fibrosis, Cirrhosis, Hepatomegaly, Kayser-Fleischer ring, He...	OMIM:277900
Craniopharyngioma	Enlarged pituitary gland, Abnormal nasal bone morphology, Hydrocephalus, Pituitary hypothyroidism...	ORPHA:54595
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Meckel Syndrome 14	Hepatic fibrosis, Microphthalmia, Mitral regurgitation, Tricuspid regurgitation	OMIM:619879
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Optic atrophy, Nail dystrophy, Ridged nail, Hyperpigmentation of the s...	OMIM:305000
Menke-Hennekam Syndrome 1	Absent earlobe, Low-set ears, Long eyelashes, Hearing impairment, Short ear, Prominent inferior c...	OMIM:618332
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Short nose, Narrow nose	OMIM:617602
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Short nose	ORPHA:329178
Proteus Syndrome	Irregular hyperpigmentation, Retinal hamartoma, Buphthalmos, Sirenomelia, Abnormality of the nail...	ORPHA:744
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short nose, Anteverted nares, Prominent nasal bridge, Bulbous nose, Wide nasal bridge, Depressed ...	OMIM:618454
Syndromic Diarrhea	Trichorrhexis nodosa, Hypopigmentation of hair, Brittle hair, Generalized hypopigmentation, Uncom...	ORPHA:84064
Lynch Syndrome	Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the pancreas, Intestinal polyposis, Ovaria...	ORPHA:144
Oculoectodermal Syndrome	Astigmatism, Microcornea, Chorioretinal atrophy, Limbal dermoid, Opacification of the corneal stroma	OMIM:600268
8P23.1 Microdeletion Syndrome	Short nose, Prominent nasal bridge, Wide nasal bridge	ORPHA:251071
Nijmegen Breakage Syndrome	Respiratory failure, Prominent nasal bridge, Prominent nose, Convex nasal ridge, Depressed nasal ...	ORPHA:647
Aica-Ribosiduria Due To Atic Deficiency	Congenital blindness	OMIM:608688
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Optic nerve hypoplasia, Microtia, Hirsutism, Synophrys, Hearing impairment, Chordee	OMIM:620455
Microlissencephaly-Micromelia Syndrome	Short nose	ORPHA:50810
Phosphoribosylpyrophosphate Synthetase Superactivity	Convex nasal ridge, Short nose, Death in childhood, Depressed nasal bridge	OMIM:300661
Ciliary Dyskinesia, Primary, 35	Nasal polyposis, Chronic rhinitis	OMIM:617092
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Broad columella, Micrognathia, Underdeveloped nasal alae	OMIM:250410
Saethre-Chotzen Syndrome	Microtia, Low-set ears, Hearing impairment, Low anterior hairline, Buphthalmos, Prominent crus of...	OMIM:101400
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent sinusitis, Nasal polyposis	OMIM:620197
C Syndrome	Anteverted nares, Short nose, Wide nasal bridge	OMIM:211750
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Argininemia	Anorexia, Hepatomegaly, Portal fibrosis, Hyperactivity, Cholestasis, Micronodular cirrhosis	OMIM:207800
Lowry-Wood Syndrome	Intrauterine growth retardation, Pigmentary retinopathy	OMIM:226960
Dyrk1A-Related Intellectual Disability Syndrome	Astigmatism, Aortic regurgitation, Hyperactivity, Corneal opacity, Aortic valve stenosis, Motor s...	ORPHA:464306
Restrictive Dermopathy	Short umbilical cord, Large placenta, Small placenta, Temporomandibular joint ankylosis, Choanal ...	ORPHA:1662
Orofaciodigital Syndrome Type 4	Microtia, third degree, Low-set ears, Abnormality of the outer ear, Conductive hearing impairment...	ORPHA:2753
Roberts Syndrome	Cataract, Microphthalmia	ORPHA:3103
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Horizontal eyebrow...	ORPHA:1606
Pfeiffer Syndrome Type 3	Short nose, Choanal atresia, Depressed nasal bridge	ORPHA:93260
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:217980
Kindler Syndrome	Corneal erosion, Ridged nail, Spotty hyperpigmentation, Symblepharon, Spotty hypopigmentation	OMIM:173650
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Holoprosencephaly	ORPHA:2165
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Anteverted nares, Short nose, Broad nasal tip, Prominent nasolabial fold	ORPHA:357074
Peho Syndrome	Anteverted nares, Short nose	ORPHA:2836
Acrocallosal Syndrome	Optic atrophy, Hypopigmentation of the fundus, Coloboma, Umbilical hernia	OMIM:200990
Distal Duplication 5Q	Short nose, Prominent nasal bridge	ORPHA:96097
Lowe Oculocerebrorenal Syndrome	Dense posterior cortical cataract, Microphthalmia, Developmental cataract, Corneal scarring	OMIM:309000
Chromosome 1P36 Deletion Syndrome, Distal	Sensorineural hearing impairment, Microtia, Low-set ears, Synophrys, Horizontal eyebrow, Hearing ...	OMIM:607872
Carpenter Syndrome 1	Opacification of the corneal stroma, Microcornea	OMIM:201000
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:2235
Hereditary Cryohydrocytosis With Reduced Stomatin	Decreased thalamic volume, Communicating hydrocephalus	ORPHA:168577
Schimke Immunoosseous Dysplasia	Opacification of the corneal stroma, Astigmatism	OMIM:242900
Robinow Syndrome, Autosomal Dominant 2	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:616331
Chime Syndrome	Corneal opacity, Retinal coloboma	ORPHA:3474
Gm2-Gangliosidosis, Ab Variant	Blindness	OMIM:272750
16P13.11 Microdeletion Syndrome	Anteverted nares, Short nose, Depressed nasal bridge	ORPHA:261236
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:739
Otopalatodigital Syndrome, Type I	Short nose, Wide nasal bridge	OMIM:311300
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Mismatch Repair Cancer Syndrome 1	Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling	OMIM:276300
Townes-Brocks Syndrome	Microphthalmia, Abnormal tragus morphology, Abnormal pinna morphology, Microtia, Hearing impairme...	ORPHA:857
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Congenital Disorder Of Glycosylation, Type Iie	Short nose, Wide nose, Death in infancy	OMIM:608779
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Myocarditis, Jaundice, Hepatomegaly, Parotitis, Acute pancreatitis, Hyperhidro...	ORPHA:99827
X-Linked Cerebral Adrenoleukodystrophy	Reduced visual acuity, Blindness	ORPHA:139396
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Decreased serum insulin-like growth factor 1	OMIM:618162
Galloway-Mowat Syndrome 3	Microphthalmia, Visual impairment	OMIM:617729
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Pancreatitis, Splenomegaly, Hepatomegaly	ORPHA:565612
Limb Body Wall Complex	Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Corneal opacity, Myelomeningocel...	ORPHA:2369
Atelosteogenesis, Type I	Stillbirth, Short nose, Neonatal death, Depressed nasal bridge	OMIM:108720
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:96180
Ciliary Dyskinesia, Primary, 15	Nasal polyposis, Abnormal axonemal organization of respiratory motile cilia	OMIM:613808
Hemihyperplasia-Multiple Lipomatosis Syndrome	Microtia	ORPHA:276280
Orofaciodigital Syndrome Type 1	Hamartoma of tongue, Abnormal dental enamel morphology, High palate, Choanal atresia, Micrognathi...	ORPHA:2750
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Short nose, Depressed nasal bridge	ORPHA:1812
Epidermodysplasia Verruciformis	Hypopigmented skin patches, Multiple cafe-au-lait spots	ORPHA:302
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Myopia, Keratoconus, Microcornea, Blindness	OMIM:225400
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Depressed nasal bridg...	OMIM:305100
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose, Neonatal death	OMIM:252160
Ciliary Dyskinesia, Primary, 2	Absent inner and outer dynein arms, Nasal polyposis	OMIM:606763
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal temper tantrums, Cholelithiasis, Spontaneous, recurrent epistaxis, Corneal opacity, Pulm...	ORPHA:2072
Brain-Lung-Thyroid Syndrome	Respiratory failure, Neonatal respiratory distress	ORPHA:209905
Sandhoff Disease	Blindness	OMIM:268800
Craniofacial Microsomia 1	Occipital encephalocele, Microphthalmia, Transverse facial cleft, Anophthalmia, Branchial anomaly...	OMIM:164210
3-Methylglutaconic Aciduria, Type Viii	Respiratory failure, Respiratory arrest, Neonatal death, Death in infancy	OMIM:617248
Larsen Syndrome	Corneal opacity	OMIM:150250
White-Kernohan Syndrome	Short nose, Retrognathia, Rectovaginal fistula, Anteverted nares, Underdeveloped nasal alae, Ante...	OMIM:619426
Glycogen Storage Disease Due To Acid Maltase Deficiency	Fatigable weakness of respiratory muscles, Respiratory insufficiency, Respiratory insufficiency d...	ORPHA:365
Multiple Synostoses Syndrome 1	Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae	OMIM:186500
Mosaic Variegated Aneuploidy Syndrome 2	Short nose, Bulbous nose, Depressed nasal bridge	OMIM:614114
Toriello-Carey Syndrome	Abnormal pinna morphology, Low-set ears, Hearing impairment, Sparse eyebrow, Anotia, Thickened he...	ORPHA:3338
Juvenile Nephropathic Cystinosis	Abnormal cornea morphology, Corneal crystals, Hypovolemia	ORPHA:411634
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Anteverted nares, Short nose	OMIM:612394
Lipodystrophy, Familial Partial, Type 7	Cataract, Developmental cataract, Orthostatic hypotension, Pigmentary retinopathy	OMIM:606721
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Short nose	ORPHA:96147
Cerebrofaciothoracic Dysplasia	Short nose, Wide nose	ORPHA:1394
Alg9-Cdg	Short nose, Low insertion of columella, Underdeveloped nasal alae, Micrognathia, Bifid uvula, Mic...	ORPHA:79328
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:222700
Mosaic Variegated Aneuploidy Syndrome 1	Anteverted nares, Wide nose, Short nose, Depressed nasal bridge	OMIM:257300
Carey-Fineman-Ziter Syndrome	Anteverted nares, Short nose	ORPHA:1358
Bone Marrow Failure Syndrome 3	Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Pancreatic steatosis, Cryptorchidism	OMIM:617052
Fryns Syndrome	Opacification of the corneal stroma, Microphthalmia	OMIM:229850
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:555874
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Retinopathy, Pilomatrixoma, Cataract, Coloboma	ORPHA:353281
Gaucher Disease	Cirrhosis, Hepatomegaly, Cholelithiasis, Corneal opacity, Splenic infarction, Pulmonary arterial ...	ORPHA:355
Tsh-Secreting Pituitary Adenoma	Progressive visual loss, Bitemporal hemianopia, Hemianopia, Abnormal visual field test, Heteronym...	ORPHA:91347
Lathosterolosis	Anteverted nares, Short nose, Prominent nasal tip	OMIM:607330
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:252010
Bare Lymphocyte Syndrome, Type I	Nasal polyposis	OMIM:604571
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Microtia, Low-set ears, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair	OMIM:210710
Townes-Brocks Syndrome 1	Sensorineural hearing impairment, Microtia, Stahl ear, Macrotia, Chorioretinal coloboma, Lop ear,...	OMIM:107480
Kindler Epidermolysis Bullosa	Corneal opacity, Conjunctivitis	ORPHA:2908
Desmosterolosis	Abnormality of the nose, Short nose, Depressed nasal bridge	ORPHA:35107
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Arthritis, Skin rash, Pericarditis, Orchitis, Maculopapular exanthema, Uv...	ORPHA:99826
Listeriosis	Respiratory failure, Miscarriage, Abnormal brainstem MRI signal intensity	ORPHA:533
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Wide nose, Optic nerve hypoplasia, High palate, Bifid uvula, Underdeveloped nasal alae	OMIM:617506
Myopathy, Mitochondrial, And Ataxia	Thick hair, Pigmentary retinopathy	OMIM:617675
Short Stature With Microcephaly And Distinctive Facies	Sparse scalp hair, Death in infancy, Sparse eyebrow, Spotty hyperpigmentation, Spotty hypopigment...	OMIM:615789
Riddle Syndrome	Respiratory failure, Neonatal asphyxia, Recurrent sinusitis	ORPHA:420741
Opsismodysplasia	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:258480
Fanconi Anemia, Complementation Group D2	Cafe-au-lait spot, Abnormality of skin pigmentation, Microphthalmia, Hydrocephalus	OMIM:227646
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Respiratory failure	OMIM:610913
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Feingold Syndrome	Annular pancreas, Abnormality of the spleen	ORPHA:1305
Stuve-Wiedemann Syndrome 1	Short nose, Wide nasal base, Low hanging columella, Anteverted nares, Death in infancy	OMIM:601559
Cowden Syndrome	Hypopigmented skin patches, Conjunctival hamartoma, Multiple cafe-au-lait spots, Melanocytic nevu...	ORPHA:201
Diamond-Blackfan Anemia	Low-set ears, Microtia, Low anterior hairline	ORPHA:124
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Hypertension, Cardiomyopathy, Pulmonary arterial hypert...	ORPHA:3472
Ogden Syndrome	Narrow palate, Short nose, Flared nostrils, Bifid nasal tip, High palate, Depressed nasal tip, Mi...	OMIM:300855
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity	OMIM:274000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnor...	ORPHA:93111
Desmosterolosis	Anteverted nares, Short nose, Hypoplastic nasal bridge	OMIM:602398
Lethal Acantholytic Erosive Disorder	Respiratory failure	ORPHA:158687
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Pancreatic aplasia, Hyperglycemia, Hypoglycemia, Diabetes mellitus	OMIM:609069
Cancer-Associated Retinopathy	Constriction of peripheral visual field, Adult-onset night blindness, Visual loss, Photophobia, D...	ORPHA:71505
Baller-Gerold Syndrome	Short nose, Prominent nasal bridge, Narrow nasal bridge	ORPHA:1225
Marshall Syndrome	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:154780
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Long nose, Short nose, Anteverted nares, Bulbous nose, Depressed nasal bridge	ORPHA:508533
Peters Plus Syndrome	Microcornea, Corneal opacity, Cataract, Peters anomaly, Anterior chamber synechiae, Iris coloboma	ORPHA:709
Cardiofaciocutaneous Syndrome 1	Short nose, Anteverted nares, Bulbous nose, Depressed nasal bridge	OMIM:115150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Opacification of the corneal stroma, Retinal dysplasia	OMIM:615287
Marshall-Smith Syndrome	Short nose, Death in childhood, Anteverted nares, Optic nerve hypoplasia, Choanal atresia, Choana...	OMIM:602535
Trisomy 20P	Anteverted nares, Short nose	ORPHA:261318
Bohring-Opitz Syndrome	Hyperechogenic pancreas, Supernumerary nipple	OMIM:605039
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Low-set ears, Long eyelashes, Short ear, Posteriorly rotated ears, Protruding ear, Frontal upswee...	OMIM:614756
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Miscarriage, Respiratory failure, Spinal dysraphism, Wide nasal brid...	ORPHA:96334
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Bile duct proliferation, Polycystic liver disease, Hepatic fibrosis, Pancreatic fibrosi...	OMIM:208500
Webb-Dattani Syndrome	Blindness	OMIM:615926
Fontaine Progeroid Syndrome	Microphthalmia, Small nail, Hydrocephalus, Hypoplastic nipples, Absent nipple, Sparse scalp hair,...	OMIM:612289
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal pupil morphology	ORPHA:286
Meckel Syndrome, Type 1	Occipital encephalocele, Microphthalmia, Large placenta, Anencephaly, Hydrocephalus, Intrauterine...	OMIM:249000
Nablus Mask-Like Facial Syndrome	Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge	OMIM:608156
Down Syndrome	Conductive hearing impairment, Microtia, Brushfield spots	OMIM:190685
Smith-Lemli-Opitz Syndrome	Abnormality of the gallbladder, Attention deficit hyperactivity disorder, Aplasia/Hypoplasia affe...	ORPHA:818
Pitt-Hopkins Syndrome	Hypopigmented skin patches, Astigmatism, Supernumerary nipple	ORPHA:2896
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Macronodular cirrhosis, Exocrine pancreatic insufficiency, Type I diabetes mellitus...	OMIM:557000
Chromosome 14Q11-Q22 Deletion Syndrome	Short nose, Wide nasal bridge, Depressed nasal bridge	OMIM:613457
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Lacrimal gland aplasia, Conical incisor, Xerostomia, Aplasia of the paro...	OMIM:149730
Congenital Fiber-Type Disproportion Myopathy	Respiratory failure, Intercostal muscle weakness, Respiratory insufficiency due to muscle weaknes...	ORPHA:2020
Lipodystrophy, Familial Partial, Type 2	Acute pancreatitis, Hepatomegaly, Hepatic steatosis	OMIM:151660
Gm1 Gangliosidosis Type 1	Blindness	ORPHA:79255
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:618278
Prader-Willi Syndrome	Intrauterine growth retardation, Generalized hypopigmentation, Frontal upsweep of hair	OMIM:176270
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Short nose	ORPHA:457279
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:614080
Coffin-Siris Syndrome	Short nose, Wide nasal base, Anteverted nares, Thick nasal alae, Broad nasal tip, Recurrent upper...	ORPHA:1465
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Myopia, Blindness	ORPHA:847
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Decreased response to growth hormone stimulat...	ORPHA:273
Kleefstra Syndrome	Anteverted nares, Short nose	ORPHA:261494
Mandibuloacral Dysplasia With Type B Lipodystrophy	Convex nasal ridge, Short nose	ORPHA:90154
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Hepatomegaly	OMIM:200995
Shwachman-Diamond Syndrome 2	Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Hepatomegaly	OMIM:617941
Neutral Lipid Storage Disease With Myopathy	Chronic pancreatitis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:610717
17Q12 Microdeletion Syndrome	Diabetes mellitus, Pancreatic aplasia, Cryptorchidism	ORPHA:261265
Malignant Atrophic Papulosis	Respiratory failure	ORPHA:679
Okamoto Syndrome	Short nose, Anal stenosis, Abnormally large globe, Anteverted nares, Underdeveloped nasal alae, E...	ORPHA:2729
Robinow Syndrome, Autosomal Dominant 3	Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge	OMIM:616894
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Small earlobe, Microtia, Low-set ears, Chordee, Posteriorly rotated ears, Hypoplastic toenails	OMIM:619522
Dermatomyositis	Myocarditis, Myositis, Arthritis, Skin rash, Lymphoma, Gastrointestinal stroma tumor, Pericarditi...	ORPHA:221
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Highly arched eyebrow, Hearing impairment, Sparse eyebrow, Microtia	OMIM:143095
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Intrauterine growth retardation, Pigmentary retinopathy	ORPHA:71212
Autosomal Dominant Cutis Laxa	Developmental cataract, Corneal opacity	ORPHA:90348
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Anteverted nares, Short nose, Bulbous nose, Depressed nasal bridge	OMIM:271510
Miller-Dieker Lissencephaly Syndrome	Anteverted nares, Short nose, Wide nasal bridge	OMIM:247200
Pulmonary Alveolar Microlithiasis	Respiratory insufficiency, Respiratory failure, Fatigable weakness	ORPHA:60025
17Q11 Microdeletion Syndrome	Rhabdomyosarcoma, Cerebellar glioma, Multiple mucosal neuromas, Pheochromocytoma, Glomus jugular ...	ORPHA:97685
Deeah Syndrome	Short nose, Death in childhood, Prominent nasal tip, Death in adolescence, Death in infancy	OMIM:619004
Coffin-Siris Syndrome 12	Low hanging columella, Anteverted nares, Prominent nasal tip, High palate, Velopharyngeal insuffi...	OMIM:619325
Acrofacial Dysostosis, Cincinnati Type	Mild hearing impairment, Recurrent otitis media, Microtia, Low-set ears, Hearing impairment, Macr...	OMIM:616462
Chops Syndrome	Anteverted nares, Short nose	OMIM:616368
Bannayan-Riley-Ruvalcaba Syndrome	Anteverted nares, Short nose, Wide nose	ORPHA:109
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Hyperpigmentation of the skin, Blepharospasm, Eyelid apraxia, Retinal degeneration...	OMIM:234200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Ptosis, Antecubital pterygium, Epicanthus, Blepharophimosis	OMIM:609945
Dysosteosclerosis	Blindness	OMIM:224300
Leprosy	Iritis, Corneal perforation, Blindness, Corneal ulceration	ORPHA:548
Mevalonic Aciduria	Underdeveloped nasal alae	OMIM:610377
Musculocontractural Ehlers-Danlos Syndrome	Short nose, Prominent nasolabial fold	ORPHA:2953
Atelosteogenesis Type I	Abnormal pancreatic duct morphology	ORPHA:1190
Cardiofaciocutaneous Syndrome	Anteverted nares, Short nose, Depressed nasal bridge	ORPHA:1340
Kaufman Oculocerebrofacial Syndrome	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:244450
Costello Syndrome	Respiratory insufficiency, Anteverted nares, Hydrocephalus, Respiratory failure, Depressed nasal ...	OMIM:218040
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Astigmatism, Corneal erosion, Corneal opacity, Keratitis, Conjunctivitis, Uveitis	ORPHA:2273
Pallister-Hall Syndrome	Nail dysplasia, Microphthalmia, Low-set, posteriorly rotated ears, Auricular tag, Microtia, Atres...	ORPHA:672
Esophageal Atresia	Coloboma	ORPHA:1199
Baller-Gerold Syndrome	Rectovaginal fistula, Spina bifida occulta, Optic nerve hypoplasia, Perineal fistula, High palate...	OMIM:218600
1P21.3 Microdeletion Syndrome	Short nose, Broad nasal tip	ORPHA:293948
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Supernumerary tooth, Short nose, Retrognathia, Cleft soft palate, Pyloric stenosis, Prominent nas...	ORPHA:268261
Peters-Plus Syndrome	Stenosis of the external auditory canal, Microtia, second degree, Low-set ears, Retinal coloboma,...	OMIM:261540
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Short nose, Wide nose, Anteverted nares, Recurrent sinusitis, Wide nasal bridge	OMIM:213980
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short nose	ORPHA:476126
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short nose, Increased size of nasopharyngeal adenoids, Depressed nasal bridge	ORPHA:457395
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Trichiasis, Highly arched eyebrow, Pilomatrixoma, Coloboma, Corneal scarring, Cataract, Intrauter...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Trichiasis, Highly arched eyebrow, Pilomatrixoma, Coloboma, Corneal scarring, Cataract, Intrauter...	ORPHA:353277
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Acute pancreatitis, Splenomegaly, Hepatic steatosis	OMIM:608594
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy, Segmental peripheral demyelination/rem...	ORPHA:255210
Gapo Syndrome	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:230740
Congenital Myopathy 22B, Severe Fetal	Short nose, Wide nasal bridge	OMIM:620369
Otopalatodigital Syndrome, Type Ii	Stillbirth, Respiratory insufficiency, Hydrocephalus, Spina bifida, Respiratory failure, Depresse...	OMIM:304120
Isolated Complex I Deficiency	Blindness	ORPHA:2609
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Pyloric stenosis, Micrognathia, Cleft palate, Choanal stenosis, Intrauterine growth...	ORPHA:83617
Stickler Syndrome	Astigmatism, Ectopia lentis, Visual impairment, Cataract, Myopia, Blindness	ORPHA:828
Tuberous Sclerosis Complex	Respiratory failure, Pituitary adenoma, Noncommunicating hydrocephalus	ORPHA:805
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Asplenia	ORPHA:210122
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Short nose	ORPHA:3339
Nicolaides-Baraitser Syndrome	Short nose, Wide nasal base, Narrow nasal bridge, Low hanging columella, Anteverted nares, Bulbou...	OMIM:601358
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Blindness	OMIM:612199
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Bardet-Biedl Syndrome	Color vision defect, Astigmatism, Photophobia, Reduced visual acuity, Cataract, Blindness, Nyctal...	ORPHA:110
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Entropion, Optic disc hypoplasia, Corneal opacity, Synophrys, Lagophthalmos, Catar...	ORPHA:3455
Joubert Syndrome 39	Occipital encephalocele, Molar tooth sign on MRI	OMIM:619562
Osteoglophonic Dysplasia	Short nose, Anteverted nares, Nasal congestion, Choanal atresia, Depressed nasal bridge	OMIM:166250
Autosomal Recessive Robinow Syndrome	Short nose, Anteverted nares, Death in infancy, Wide nasal bridge, Depressed nasal bridge	ORPHA:1507
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Abnormality of the orbital region, Optic nerve hypoplasia, Attenuation ...	ORPHA:468631
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Short nose, Stillbirth, Choanal atresia, Choanal stenosis, Bulbous nose, Depressed nasal bridge	ORPHA:95699
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Acute pancreatitis, Splenomegaly, Hepatic steatosis	OMIM:269700
Cog1-Cdg	Microtia, Low-set, posteriorly rotated ears	ORPHA:263508
Yunis-Varon Syndrome	Small earlobe, Microtia, Hypoplastic nipples, Low-set ears, Sparse scalp hair, Absent fingernail,...	OMIM:216340
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Short nose	OMIM:617527
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Short nose, Prominent nasal bridge	ORPHA:1974
Plaa-Associated Neurodevelopmental Disorder	Short nose	ORPHA:521426
Down Syndrome	Depressed nasal ridge, Short nose, Depressed nasal bridge	ORPHA:870
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Hepatomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidism, Exoc...	ORPHA:116
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Sensorineural hearing impairment, Microtia, Low-set ears, Posteriorly rotated ears, Hypogonadism	OMIM:309580
Blomstrand Lethal Chondrodysplasia	Anteverted nares, Short nose, Depressed nasal bridge	ORPHA:50945
Neutral Lipid Storage Myopathy	Chronic pancreatitis, Hepatomegaly, Hepatic steatosis, Cholecystitis	ORPHA:98908
Pallister-Killian Syndrome	Stillbirth, Sparse anterior scalp hair, Hypopigmentation of the skin, Sparse scalp hair, Hypopigm...	OMIM:601803
Noonan Syndrome 3	Anteverted nares, Short nose, Hypoplastic nasal bridge	OMIM:609942
Neurooculorenal Syndrome	Iris atrophy	OMIM:620305
Jacobsen Syndrome	Short nose, Anteverted nares, Death in infancy, Broad columella, Wide nasal bridge	ORPHA:2308
Mandibuloacral Dysplasia Progeroid Syndrome	Narrow nasal ridge, High palate, Micrognathia, Depressed nasal bridge, Bulbous nose, Underdevelop...	OMIM:619127
Myoectodermal Gonadal Dysgenesis Syndrome	Pyloric stenosis, Convex nasal ridge, Anal atresia, Underdeveloped nasal alae	OMIM:618419
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Anteverted nares, Short nose, Depressed nasal bridge	ORPHA:536467
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches	ORPHA:183
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Prominent nose, Respiratory failure, Bulbous nose, Long nose	ORPHA:2636
Hemorrhagic Fever-Renal Syndrome	Respiratory failure, Epistaxis	ORPHA:340
Cryptococcosis	Abnormality of vision, Blindness	ORPHA:1546
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis	OMIM:615503
Arima Syndrome	Brainstem dysplasia, Occipital meningocele, Hypoplasia of the brainstem, Molar tooth sign on MRI	OMIM:243910
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Mosaic Trisomy 20	Intrauterine growth retardation, Depigmentation/hyperpigmentation of skin, Hypopigmented streaks	ORPHA:1724
Hutchinson-Gilford Progeria Syndrome	Left ventricular systolic dysfunction, Aortic regurgitation, Corneal ulceration, Angina pectoris,...	ORPHA:740
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Bilateral choanal atresia, Wide nose, Underdeveloped nasal alae, Ankylogloss...	OMIM:619525
Mucopolysaccharidosis, Type Iiid	Visual impairment, Nyctalopia	OMIM:252940
Acromesomelic Dysplasia 1	Short nose	OMIM:602875
Adams-Oliver Syndrome 1	Microphthalmia, Encephalocele, Small nail, Supernumerary nipple, Alopecia	OMIM:100300
Otopalatodigital Syndrome Type 2	Short nose, Depressed nasal bridge	ORPHA:90652
Kbg Syndrome	Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae	OMIM:148050
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, Prominent nasal tip	ORPHA:522077
Sotos Syndrome	Astigmatism, Hyperpigmentation of the skin, Small nail, Hypopigmentation of the skin, Umbilical h...	ORPHA:821
Trisomy 10P	Abnormality of the nose, Anteverted nares, Short nose, Depressed nasal bridge	ORPHA:171929
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose	OMIM:252150
Rajab Interstitial Lung Disease With Brain Calcifications 1	Respiratory insufficiency, Respiratory failure	OMIM:613658
Schinzel-Giedion Midface Retraction Syndrome	Short nose, Anteverted nares, Choanal stenosis, Abnormal nasopharynx morphology, Depressed nasal ...	OMIM:269150
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Short nose, Optic nerve hypoplasia, Respiratory failure, Wide nasal bridge, Depressed nasal bridge	ORPHA:500150
Geleophysic Dysplasia 2	Short nose	OMIM:614185
Wiedemann-Steiner Syndrome	Short nose, Wide nasal bridge	ORPHA:319182
Trisomy 8P	Anteverted nares, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract infections	ORPHA:264450
Osteogenesis Imperfecta	Corneal opacity	ORPHA:666
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear	ORPHA:314647
Granulomatosis With Polyangiitis	Oral ulcer, Concave nasal ridge, Nasal mucosa vasculitis	OMIM:608710
Dpagt1-Cdg	Astigmatism, Developmental cataract, Nyctalopia	ORPHA:86309
Floating-Harbor Syndrome	Low hanging columella, Celiac disease, Carious teeth, Prominent nasal bridge, Umbilical hernia, P...	OMIM:136140
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Pigmentary retinopathy	OMIM:277400
Robinow Syndrome	Short nose, Anteverted nares, Flared nostrils, Broad nasal tip, Depressed nasal bridge	ORPHA:97360
Hydrolethalus Syndrome 1	Stillbirth, Microphthalmia, Anencephaly, Severe hydrocephalus, Intrauterine growth retardation	OMIM:236680
Geleophysic Dysplasia 1	Anteverted nares, Short nose, Wide nasal bridge	OMIM:231050
Autosomal Dominant Robinow Syndrome	Short nose, Wide nose, Anteverted nares, Wide nasal bridge, Depressed nasal bridge	ORPHA:3107
Xq21 Microdeletion Syndrome	Peripheral visual field loss, Progressive night blindness, Reduced visual acuity, Visual acuity t...	ORPHA:1435
Joubert Syndrome 5	Occipital encephalocele, Molar tooth sign on MRI, Thickened superior cerebellar peduncle	OMIM:610188
Glycerol Kinase Deficiency	Chronic pancreatitis, Adrenal insufficiency	OMIM:307030
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Spina bifida occulta, Highly arched eyebrow, Optic nerve hypoplasia, Re...	ORPHA:508488
Autosomal Recessive Polycystic Kidney Disease	Respiratory failure, Depressed nasal ridge	ORPHA:731
Helsmoortel-Van Der Aa Syndrome	Short nose, Anteverted nares, Broad nasal tip, Wide nasal bridge	OMIM:615873
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele	OMIM:600145
Orofaciodigital Syndrome Type 14	Molar tooth sign on MRI, Bulbous nose, Dilated third ventricle	ORPHA:434179
Cerebellofaciodental Syndrome	Hypoplasia of the pons, Hypoplasia of the midbrain	OMIM:616202
C Syndrome	Hypoplasia of the ear cartilage, Abnormal hair pattern, Low-set, posteriorly rotated ears	ORPHA:1308
Coffin-Lowry Syndrome	Short nose, Wide nose, Anteverted nares, Thick nasal alae, Broad columella, Thick nasal septum	OMIM:303600
Progressive Supranuclear Palsy	Abnormal synaptic transmission	ORPHA:683
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Astigmatism, Aganglionic megacolon, Broad eyebrow, Telecanthus, Axenfeld anomaly,...	ORPHA:261537
Simpson-Golabi-Behmel Syndrome	Anteverted nares, Short nose, Wide nasal bridge, Death in infancy	ORPHA:373
Spondyloenchondrodysplasia With Immune Dysregulation	Hypermelanotic macule, Vitiligo, Hypopigmented skin patches on arms	OMIM:607944
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Short nose, Bulbous nose, Broad nasal tip, Depressed nasal bridge	OMIM:309590
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas	ORPHA:488642
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Short nose, Choanal atresia, Narrow nose	OMIM:301044
Yellow Fever	Skin rash, Jaundice, Acute pancreatitis, Pancreatic hyperplasia	ORPHA:99829
Omodysplasia 1	Short nose, Wide nasal bridge, Depressed nasal bridge	OMIM:258315
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Pancreatic fibrosis	OMIM:263520
Niemann-Pick Disease Type C	Respiratory insufficiency, Respiratory failure	ORPHA:646
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Constriction of peripheral visual field, Nyctalopia	OMIM:619418
Specc1L-Related Hypertelorism Syndrome	Short nose, Prominent nasal bridge, Wide nasal bridge	ORPHA:1519
Systemic Sclerosis	Irregular hyperpigmentation, Nail bed telangiectasia, Spotty hypopigmentation, Alopecia	ORPHA:90291
Aspartylglucosaminuria	Chronic otitis media, Microtia	ORPHA:93
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory failure	ORPHA:79404
Mowat-Wilson Syndrome	Microphthalmia, Astigmatism, Aganglionic megacolon, Broad eyebrow, Telecanthus, Axenfeld anomaly,...	ORPHA:2152
Phocomelia, Schinzel Type	Short nose	ORPHA:2879
Zttk Syndrome	Short nose, Wide nasal bridge, Depressed nasal bridge	OMIM:617140
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Cornelia De Lange Syndrome 6	Anteverted nares, Short nose	OMIM:620568
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Short nose, Optic nerve hypoplasia, Prominent nasal tip, Broad nasal tip, Wide nasal bridge	OMIM:620330
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hydrocephalus, Aqueductal stenosis, Coloboma, Neonatal death	OMIM:619534
Familial Tumoral Calcinosis	Hypopigmented skin patches	ORPHA:53715
Femoral-Facial Syndrome	Short nose, Encephalocele, Spina bifida, Micrognathia, Cleft palate, Underdeveloped nasal alae	OMIM:134780
Nocardiosis	Respiratory failure	ORPHA:31204
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short nose, Depressed nasal ridge, Depressed nasal bridge, Enlarged naris, Concave nasal ridge	OMIM:271665
Ulbright-Hodes Syndrome	Convex nasal ridge, Respiratory failure, Depressed nasal bridge	ORPHA:3404
Ctcf-Related Neurodevelopmental Disorder	Anteverted nares, Short nose, Broad nasal tip, Short columella	ORPHA:363611
Digeorge Syndrome	Cholelithiasis, Posterior embryotoxon, Sclerocornea, Splenomegaly, Attention deficit hyperactivit...	OMIM:188400
Tetragametic Chimerism	Hypopigmented skin patches	ORPHA:199310
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Short nose	OMIM:618820
Hyper-Igd Syndrome	Nyctalopia	OMIM:260920
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Anteverted nares, Short nose	ORPHA:444077
Schinzel-Giedion Syndrome	Short nose, Broad nasal tip, Choanal stenosis	ORPHA:798
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Short nose, Short columella	OMIM:601776
Robinow Syndrome, Autosomal Dominant 1	Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge	OMIM:180700
Hardikar Syndrome	Lacrimal duct stenosis, Pigmentary retinopathy	OMIM:301068
Alström Syndrome	Cirrhosis, Decreased response to growth hormone stimulation test, Abnormal liver physiology, Panc...	ORPHA:64
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Patchy hypo- and hyperpigmentation, Synophrys	ORPHA:3063
Cornelia De Lange Syndrome	Short nose, Anteverted nares, Choanal atresia, Depressed nasal bridge	ORPHA:199
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Asplenia	OMIM:265380
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Prominent nose, Short nose, Prominent nasolabial fold, Depressed nasal bridge	OMIM:619503
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Molar tooth sign on MRI, Holoprosencephaly	OMIM:615948
Penile Agenesis	Short nose, Depressed nasal bridge	ORPHA:49
Johanson-Blizzard Syndrome	Hypoplasia of the primary teeth, Rectovaginal fistula, Severe intrauterine growth retardation, An...	OMIM:243800
Simpson-Golabi-Behmel Syndrome, Type 1	Short nose, Anteverted nares, Wide nasal bridge, Depressed nasal bridge	OMIM:312870
Cystic Fibrosis	Nasal polyposis, Steatorrhea, Meconium ileus, Rectal prolapse	ORPHA:586
Williams-Beuren Syndrome	Short nose, Anteverted nares, Broad nasal tip, Depressed nasal bridge	OMIM:194050

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Eye - MPATH pathological entity term cataract	Pax6^em1(IMPC)Mbp	HET		Early adult
Eye - MPATH pathological process term developmental dysplasia	Pax6^em1(IMPC)Mbp	HET		Early adult

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 Pax6.

No publications found that use IMPC mice or data for Pax6.

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MGI Allele	Allele Type	Produced
Pax6^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pax6^{tm119340(pL1L2_GT1_DelLacZ_bsd)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pax6^em1(IMPC)Mbp	Inter-exon deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pax6 MGI:97490

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Pax6 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data