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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
facial cleft	Pax6^em1(IMPC)Mbp	HOM	E15.5	0.00
preweaning lethality, complete penetrance	Pax6^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Pax6^em1(IMPC)Mbp	HET	Early adult	0.00
anophthalmia	Pax6^em1(IMPC)Mbp	HET	Early adult	0.00
cleft palate	Pax6^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal brain morphology	Pax6^em1(IMPC)Mbp	HET	Early adult	0.00
small liver	Pax6^em1(IMPC)Mbp	HET	Early adult	0.00
corneal vascularization	Pax6^em1(IMPC)Mbp	HET	Early adult	1.84×10^-07
abnormal placenta morphology	Pax6^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal liver morphology	Pax6^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal eye morphology	Pax6^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta vasculature	Pax6^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal craniofacial morphology	Pax6^em1(IMPC)Mbp	HOM	E15.5	0.00
microphthalmia	Pax6^em1(IMPC)Mbp	HET	E15.5	0.00
anophthalmia	Pax6^em1(IMPC)Mbp	HOM	E15.5	0.00
corneal opacity	Pax6^em1(IMPC)Mbp	HET	Early adult	1.20×10^-08
hyperactivity	Pax6^em1(IMPC)Mbp	HET	Early adult	2.47×10^-05
abnormal placenta morphology	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, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o...	OMIM:604229
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Foveal Hypoplasia 1	Presenile cataracts, Hypoplasia of the fovea	OMIM:136520
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia...	OMIM:106210
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Generalized hyperpigmentation, Optic atrophy	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	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Microphthalmia/Coloboma 12	Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Corneal opacity...	OMIM:120200
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	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	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Microphthalmia/Coloboma 4	Microcornea, Coloboma, Microphthalmia	OMIM:251505
Microphthalmia/Coloboma 10	Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit	OMIM:616428
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Aniridia 2	Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o...	OMIM:604229
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio...	OMIM:269400
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl...	OMIM:177650
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Cataract 44	Developmental cataract	OMIM:616509
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Microphthalmia/Coloboma 7	Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:614497
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	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	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	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	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Cataract 11, Multiple Types	Cataract, Blindness, Developmental cataract, Microphthalmia	OMIM:610623
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Microcoria, Congenital	Miosis, Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/H...	ORPHA:83461
Microphthalmia/Coloboma 5	Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, 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, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Dermochondrocorneal Dystrophy	Corneal dystrophy	ORPHA:79149
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic...	OMIM:610256
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Fryns Microphthalmia Syndrome	Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Neural ...	OMIM:600776
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph...	ORPHA:39044
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Corneal Dystrophy, Avellino Type	Reduced visual acuity, Visual impairment, Lattice corneal dystrophy	OMIM:607541
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Norrie Disease	Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom...	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
Trichomegaly	Cataract	OMIM:190330
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Corneal Dystrophy, Lattice Type I	Recurrent corneal erosions, Lattice corneal dystrophy	OMIM:122200
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy	OMIM:121820
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	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	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Reduced visual acuity, Visual impairment, Microphthalmia	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	Sclerocornea, Anophthalmia, Microphthalmia	OMIM:611038
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Amblyopia, Developmental cataract, Microphthalmia, V...	OMIM:604219
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos	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	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach...	OMIM:610202
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
X-Linked Retinoschisis	Cataract, Retinoschisis	ORPHA:792
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Microcornea, Corneal opacity	ORPHA:2432
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft palate, Cleft upper lip, 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	Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea...	ORPHA:171673
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia...	OMIM:106210
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	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
Nathalie Syndrome	Cataract	ORPHA:2663
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Optic atrophy, Iris cyst	OMIM:620086
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	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	Cataract, Generalized hyperpigmentation, Optic atrophy	ORPHA:2253
Foveal Hypoplasia 2	Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia	OMIM:609218
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi...	ORPHA:98957
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Tietz Syndrome	Hypopigmentation of the skin, Abnormal anterior chamber morphology, White eyebrow, Abnormality of...	ORPHA:42665
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract, Choroideremia	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
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:613801
Anencephaly 2	Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxillary alveolar ridge, Anence...	OMIM:619452
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos...	ORPHA:231736
Morquio Syndrome C	Corneal opacity	OMIM:252300
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:120433
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy	ORPHA:458798
Cornea Plana 2, Autosomal Recessive	Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic...	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	Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of s...	OMIM:251270
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne...	ORPHA:1473
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Anterior synechiae of the anterior chamber, Band keratopathy, Ocular anterior segment dysgenesis,...	OMIM:614195
Nanophthalmos 4	Reduced visual acuity, Hypermetropia, Microphthalmia	OMIM:615972
Amyotrophic Lateral Sclerosis 3	Cerebellar atrophy	OMIM:606640
Isolated Arrhinia	Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy...	ORPHA:1134
Microphthalmia, Isolated 6	Microcornea, High hypermetropia, Amblyopia, Microphthalmia	OMIM:613517
Isolated Split Hand-Split Foot Malformation	Aniridia	ORPHA:2440
Galactosialidosis	Corneal opacity	ORPHA:351
Nasal Bones, Absence Of	Short columella, Narrow naris	OMIM:161480
Macular Dystrophy, Corneal	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy	OMIM:217800
Neovascular Glaucoma	Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino...	ORPHA:94058
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Woolly Hair	Cataract, Abnormal pupil morphology, Abnormal retinal morphology	ORPHA:170
Coats Disease	Leukocoria, Retinal telangiectasia, Exudative retinal detachment	OMIM:300216
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c...	OMIM:221900
Corneal Dystrophy, Lattice Type Iiia	Reduced visual acuity, Visual impairment, Corneal erosion, Lattice corneal dystrophy	OMIM:608471
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia	ORPHA:35612
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Coloboma, Hydrocephalus, Ocular anterior segment dysgenesis, Development...	ORPHA:324416
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, Conductive hearing impairment, Hypogonadism, Stenosis of the external auditory cana...	ORPHA:3216
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma	OMIM:610023
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental 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, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Retinitis Pigmentosa 9	Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr...	OMIM:180104
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Gillespie Syndrome	Aniridia, Hypoplasia of the iris	OMIM:206700
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Corneal Dystrophy, Fleck	Speckled corneal dystrophy	OMIM:121850
Oculocutaneous Albinism, Type Viii	Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris trans...	OMIM:619165
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy, Microphthalmia, Shallow ante...	OMIM:267760
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh...	OMIM:614500
Stickler Syndrome Type 2	Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity	ORPHA:90654
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Axenfeld-Rieger Syndrome, Type 3	Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ...	OMIM:602482
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:300915
Facial Spasm	Anisocoria	OMIM:134300
Corneal Dystrophy, Gelatinous Drop-Like	Blurred vision, Reduced visual acuity, Photophobia, Visual impairment, Corneal dystrophy	OMIM:204870
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Chorioretinal coloboma, White forelock, Numerous pigmented freckles, Iris coloboma, ...	OMIM:601706
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:618220
Oculoauricular Syndrome	Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Cone/cone-rod dystrophy, Pos...	OMIM:612109
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A...	ORPHA:54
Microphthalmia, Syndromic 12	Wide nasal bridge, Broad nasal tip, Anophthalmia, Neonatal death, Microphthalmia	OMIM:615524
Galactosemia Ii	Cataract	OMIM:230200
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia	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 guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Gms Syndrome	Tricuspid regurgitation, Rieger anomaly	ORPHA:2090
Optic Atrophy 3, Autosomal Dominant	Cataract, Optic disc pallor, Optic atrophy	OMIM:165300
Cataract 47	Cataract, Microcornea	OMIM:612018
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Glaucoma 1, Open Angle, A	Abnormal iris vasculature	OMIM:137750
Thiel-Behnke Corneal Dystrophy	Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn...	ORPHA:98960
Galactosemia Iv	Cataract	OMIM:618881
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Leber Congenital Amaurosis 2	Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Myopia, Visual impairment, Microphthalmia	ORPHA:1574
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Tietz Albinism-Deafness Syndrome	Hypopigmentation of the fundus, Heterochromia iridis, White eyebrow, White eyelashes, Blue irides...	OMIM:103500
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Nystagmus 6, Congenital, X-Linked	Retinal pigment epithelial mottling, Hypopigmentation of the fundus, Astigmatism	OMIM:300814
Nephroblastoma	Aniridia	ORPHA:654
Anophthalmia Plus Syndrome	Tessier cleft, Anophthalmia, Bilateral cleft palate, Spina bifida, Non-midline cleft of the upper...	ORPHA:1104
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Attenuation of retinal blood vessels, Upslanted palpebral fissure, Bone spicule pigment...	OMIM:616108
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Frontonasal Dysplasia With Alar Clefts	Cleft ala nasi, Underdeveloped nasal alae	OMIM:203000
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Metamorphopsia, Blurred vision, Visual field defect, Re...	ORPHA:209956
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris	ORPHA:893
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Macular atrophy, Retinal detachment, Micropht...	OMIM:212550
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat...	ORPHA:263479
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju...	ORPHA:163934
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	High hypermetropia, Microphthalmia	OMIM:251700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Bardet-Biedl Syndrome 18	Cataract, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber	ORPHA:3214
Leber Congenital Amaurosis 16	Cataract, Visual field defect, Reduced visual acuity, Nyctalopia, Photophobia, Visual impairment	OMIM:614186
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V...	OMIM:143200
Intestinal Botulism	Mydriasis	ORPHA:178481
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Ectopia lentis, Abnormality of retinal pigmentation, Ptosis, Palpebral edema, Iris coloboma	ORPHA:1259
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed...	OMIM:600059
Morning Glory Disc Anomaly	Cataract, Retinal detachment, 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	Wide nasal bridge, Cleft ala nasi, Convex nasal ridge, Underdeveloped nasal alae	ORPHA:2007
Axenfeld-Rieger Syndrome, Type 1	Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of...	OMIM:180500
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Sclerocornea, Iris c...	ORPHA:139471
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal guttata, Corneal degeneration, Corneal dystrophy	OMIM:610158
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Myopia, Hypermetropia, Buphthalmos...	OMIM:251750
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo...	OMIM:203200
Nystagmus 2, Congenital, Autosomal Dominant	Reduced visual acuity, Visual impairment, Mildly reduced visual acuity	OMIM:164100
Rhiny	Anteverted nares, Short nose	OMIM:180360
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Optic atrophy, Retinopathy, Macular atrophy, Microphthalmia, Optic disc pa...	OMIM:616171
Spastic Ataxia-Corneal Dystrophy Syndrome	Corneal dystrophy, Developmental cataract	ORPHA:2572
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Hec Syndrome	Abnormal pupil morphology, Abnormal retinal vascular morphology, Developmental cataract	ORPHA:2119
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Micr...	OMIM:278730
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia	OMIM:194072
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Nathalie Syndrome	Cataract	OMIM:255990
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal guttata, Corneal dystrophy	OMIM:613268
Craniofacial Microsomia 2	Microtia, third degree, Microtia, first degree, Microtia, second degree, Microtia	OMIM:620444
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia, Cataract, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Congenital Rubella Syndrome	Microphthalmia, Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:290
Bietti Crystalline Dystrophy	Color vision defect, Visual impairment, Constriction of peripheral visual field, Blindness, Centr...	ORPHA:41751
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret...	ORPHA:891
Distal Deletion 6P	Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho...	ORPHA:96125
Corneal Dystrophy, Congenital Stromal	Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Hypomyelination-Congenital Cataract Syndrome	Abnormal cerebellum morphology, Developmental cataract	ORPHA:85163
Phacoanaphylactic Uveitis	Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal...	ORPHA:209959
Chylous Ascites	Abnormal intestine morphology, Neoplasm, Pancreatitis	ORPHA:1160
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract, Optic nerve dysplasia	OMIM:246000
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Intermediate Uveitis	Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina...	ORPHA:279914
Optic Atrophy 9	Red-green dyschromatopsia, Reduced visual acuity, Visual impairment, Paracentral scotoma	OMIM:616289
Short Syndrome	Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ...	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	Cataract, Aniridia, Microphthalmia, Sclerocornea, 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	Rieger anomaly, Abnormally prominent line of Schwalbe	OMIM:109120
Axenfeld-Rieger Syndrome	Posterior embryotoxon, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:782
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia	OMIM:257910
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Persistent Placoid Maculopathy	Scintillating scotoma, Metamorphopsia, Hypoplasia of the fovea, Reduced visual acuity, Amblyopia	ORPHA:97341
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea	OMIM:617272
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of the fundus, Ocular albinis...	OMIM:611584
Wound Botulism	Mydriasis	ORPHA:178475
Adult-Onset Foveomacular Vitelliform Dystrophy	Iris hypopigmentation, Vitelliform-like macular lesions, Retinal nonattachment, Choroideremia	ORPHA:99000
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Retinitis Pigmentosa 35	Reduced visual acuity, Blindness, Nyctalopia	OMIM:610282
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachme...	OMIM:613310
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Low posterior hairline, Retinal det...	ORPHA:85194
Retinitis Pigmentosa 46	Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod...	OMIM:612572
Winchester Syndrome	Corneal opacity	OMIM:277950
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Macular Dystrophy, Vitelliform, 5	Moderately reduced visual acuity, Reduced visual acuity, Central scotoma	OMIM:616152
Åland Islands Eye Disease	Color vision defect, Astigmatism, Hypoplasia of the fovea, Reduced visual acuity, Myopia, Difficu...	ORPHA:178333
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Tessier cleft, Bilateral microphthalmos, Cleft upper lip, Ethmoidal encephal...	OMIM:607597
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal...	OMIM:613270
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Birdshot Chorioretinopathy	Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir...	ORPHA:179
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity	OMIM:608470
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor...	OMIM:614292
Microphthalmia, Isolated 8	Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ...	OMIM:615113
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Hypopigmentation of the skin, Abnormal optic nerve morphology, Premature graying o...	ORPHA:33445
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne...	OMIM:601552
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Coxoauricular Syndrome	Hearing impairment, Microtia	OMIM:122780
Waardenburg Syndrome, Type 1	Hypopigmentation of the fundus, Premature graying of hair, Partial albinism, Myelomeningocele, Th...	OMIM:193500
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Persistent Hyperplastic Primary Vitreous	Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu...	ORPHA:91495
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Inhalational Botulism	Mydriasis	ORPHA:254504
Cerebrooculonasal Syndrome	Tessier cleft, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median max...	ORPHA:66625
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair	OMIM:606574
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d...	OMIM:204000
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Frontonasal Dysplasia 3	Tessier cleft, Cleft palate, Microphthalmia	OMIM:613456
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Night Blindness, Congenital Stationary, Autosomal Dominant 2	Reduced visual acuity, Moderate myopia, Congenital stationary night blindness	OMIM:163500
Abruzzo-Erickson Syndrome	Protruding ear, Coloboma, Hearing impairment, Macrotia	OMIM:302905
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Limbal stem cell deficiency	OMIM:615225
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Reduced visual acuity, Amblyopia, Developmen...	OMIM:611544
N Syndrome	Megalocornea	ORPHA:2608
Gracile Bone Dysplasia	Aniridia, Hydrocephalus, Death in infancy, Microphthalmia	OMIM:602361
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Blindness, Developmental cataract	OMIM:607674
Chudley-Mccullough Syndrome	Cerebellar hypoplasia, Cerebellar dysplasia, Hydrocephalus	OMIM:604213
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, Nyctalopia, Ring scotoma	OMIM:607476
Cofs Syndrome	Cataract, Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1466
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Scotoma, Visual loss, Astigmatism, Nyctalopia, Hemianopia, High ...	ORPHA:231183
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Long eyelashes, Retinal degeneration, Peripheral a...	OMIM:275400
Retinal Cone Dystrophy 3B	Scotoma, Astigmatism, Reduced visual acuity, Nyctalopia, Myopia, Photophobia	OMIM:610356
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat...	OMIM:312600
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
2Q24 Microdeletion Syndrome	Cataract, Coloboma, Abnormality iris morphology, Microphthalmia	ORPHA:1617
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Gombo Syndrome	Microphthalmia	OMIM:233270
Sveinsson Chorioretinal Atrophy	Peripapillary chorioretinal atrophy, Astigmatism	OMIM:108985
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma...	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	Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho...	ORPHA:2479
Wagro Syndrome	Cataract, Aniridia, Corneal opacity	OMIM:612469
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Iris coloboma, Microtia	ORPHA:139450
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Microphthalmia, Syndromic 5	Cataract, Microcornea, Anophthalmia, Microphthalmia, Retinal dystrophy, Optic nerve hypoplasia	OMIM:610125
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Peroxisome Biogenesis Disorder 2B	Polar cataract	OMIM:202370
Leber Congenital Amaurosis 9	Keratoconus, Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood ves...	OMIM:608553
Vitreoretinochoroidopathy	Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina...	OMIM:193220
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Limbal dermoid, Microphthalmia, Hypoplasia of the iris	OMIM:613001
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Retinal detachment	OMIM:219250
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Morm Syndrome	Cataract, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy	OMIM:602082
Botulism	Mydriasis	ORPHA:1267
Nystagmus 1, Congenital, X-Linked	Reduced visual acuity, Mildly 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	Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Downslanted palpebral fissures, Astigma...	OMIM:152950
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Cleft upper lip, Anterior encephalocele, Bilateral cleft palate, Bilateral cleft lip	OMIM:601357
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Epithelial Recurrent Erosion Dystrophy	Corneal erosion	OMIM:122400
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon...	OMIM:180105
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Retinopathy Of Prematurity	Cataract, Blindness, Reduced visual acuity, Amblyopia, Myopia	ORPHA:90050
Neuhauser Syndrome	Hypoplasia of the iris, Megalocornea, Iridodonesis, Retinal detachment, Iris transillumination de...	OMIM:249310
Microphthalmia/Coloboma 9	Microcornea, Ptosis, Retinal detachment, Ocular anterior segment dysgenesis, Microphthalmia, Scle...	OMIM:615145
Autoinflammation With Arthritis And Dyskeratosis	Punctate keratitis, Keratoconjunctivitis sicca, Corneal neovascularization, Uveitis	OMIM:617388
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Abnormal optic nerve morphology, Megalocornea, Aniridia, Anophthalmia, Abnormal vitreous humor mo...	ORPHA:1101
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma, Posteriorly rotated ears, Sensorineural hearing impairment	OMIM:618295
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract, Pigmentary retinopathy, Attenuation of retinal ...	OMIM:613581
Microphthalmia/Coloboma 12	Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Corneal opacity...	OMIM:120200
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Microcornea, Peripheral retinal atrophy, Absent foveal reflex, Iris coloboma, Retinal dystrophy	OMIM:615147
Weill-Marchesani Syndrome 3	High myopia, Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:614819
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Microp...	ORPHA:1135
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Cataract 19, Multiple Types	Amblyopia, Cortical pulverulent cataract	OMIM:615277
Myopia 23, Autosomal Recessive	Increased axial length of the globe, High myopia, Visual impairment, Reduced visual acuity	OMIM:615431
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype...	ORPHA:241
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci...	OMIM:145001
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the dentition, Median cleft upper lip, Aplasia/Hypoplasia affecting...	ORPHA:1794
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Foodborne Botulism	Mydriasis	ORPHA:228371
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Optic ...	ORPHA:79433
Blepharoptosis, Myopia, And Ectopia Lentis	Myopia, Increased axial length of the globe, Ectopia lentis	OMIM:110150
Duane Retraction Syndrome	Microcornea, Irregular hyperpigmentation, Optic disc hypoplasia, Central heterochromia, Chorioret...	ORPHA:233
Biemond Syndrome Ii	Iris coloboma	OMIM:210350
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone...	OMIM:602772
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante...	ORPHA:67042
Donnai-Barrow Syndrome	Cataract, Hypoplasia of the iris, Retinal detachment, Iris coloboma, Retinal dystrophy	OMIM:222448
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t...	ORPHA:364055
Insulinomatosis And Diabetes Mellitus	Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h...	OMIM:147630
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Coloboma, Microphthalmia	OMIM:274270
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy, Iris atrophy	OMIM:620422
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Death in childhood, Low anterior hairline, Coloboma, Retinal detachment, Hydrocephalus,...	OMIM:613153
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy	ORPHA:1369
Retinitis Pigmentosa 77	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti...	OMIM:617304
Retinitis Pigmentosa 43	Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bon...	OMIM:613810
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m...	ORPHA:280921
Retinitis Pigmentosa 78	Visual field defect, Reduced visual acuity, Photopsia, Nyctalopia	OMIM:617433
Choroideremia	Abnormality of vision, Progressive visual loss, Nyctalopia, Myopia, Visual impairment	ORPHA:180
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Achromatopsia 3	Cataract, Dyschromatopsia, High myopia, Moderately reduced visual acuity, Monochromacy, Achromato...	OMIM:262300
Vogt-Koyanagi-Harada Disease	Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit...	ORPHA:3437
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Visual loss, Abnormal Descemet membrane morphology, Redu...	ORPHA:98974
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Color vision defect, Blind-spot enlargment, Cerulean cataract, Central scotoma, Reduced visual ac...	OMIM:616732
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus	OMIM:606952
Alexander Disease	Microcoria	OMIM:203450
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Retinitis Pigmentosa 83	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous...	OMIM:618173
Retinal Dystrophy And Obesity	Attenuation of retinal blood vessels, Retinal dots, Astigmatism, Peripapillary atrophy, Retinal d...	OMIM:616188
Seckel Syndrome 4	Intrauterine growth retardation, Retrognathia, Underdeveloped nasal alae	OMIM:613676
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation	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	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Acrofacial Dysostosis, Weyers Type	Tessier cleft, Abnormality of the dentition, Conical tooth, Solitary median maxillary central inc...	ORPHA:952
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum...	OMIM:607624
Griscelli Syndrome Type 1	Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Retinopathy	ORPHA:79476
Bosma Arhinia Microphthalmia Syndrome	Choanal atresia, Anosmia, Dental malocclusion, Paranasal sinus hypoplasia, Microphthalmia, High p...	OMIM:603457
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o...	ORPHA:352731
Choroideremia	Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm...	OMIM:303100
Peroxisome Biogenesis Disorder 10A (Zellweger)	Cataract	OMIM:614882
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip...	OMIM:618195
Leber Congenital Amaurosis 12	Congenital blindness	OMIM:610612
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Downslanted palpebral fissures, Abnormality of retinal pigmentation, Heterochromia iridis, Epican...	ORPHA:1390
Cone-Rod Dystrophy 12	Color vision defect, Reduced visual acuity, Central scotoma, Nyctalopia	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	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic...	ORPHA:79434
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Reduced visual acuity, Nyctalopia	OMIM:610156
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Sub-RPE deposits, Chorioretinal ...	OMIM:605670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Retinal detachment, Optic nerve hypoplasia	OMIM:615181
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Epicanthus, Chorioretinal coloboma	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, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Retinitis Pigmentosa 14	Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the...	OMIM:600132
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Cat-Eye Syndrome	Downslanted palpebral fissures, Iris coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:195
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
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	Heterochromia iridis, Congenital Horner syndrome	OMIM:143000
Infant Botulism	Mydriasis, Keratoconjunctivitis sicca	ORPHA:178478
Achromatopsia 7	Central scotoma, Hypoplasia of the fovea, Reduced visual acuity, Achromatopsia, Photophobia	OMIM:616517
Cataract 2, Multiple Types	Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Amblyopia, Developmental cataract, P...	OMIM:604307
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Benign Schwannoma	Nasal polyposis, Peripheral schwannoma, Schwannoma, Intestinal polyposis, Abnormal cranial nerve ...	ORPHA:252164
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Burn-Mckeown Syndrome	Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose	ORPHA:1200
Microtia, Hearing Impairment, And Cleft Palate	Stenosis of the external auditory canal, Increased incisura length, Mixed hearing impairment, Ove...	OMIM:612290
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 41	Nuclear cataract	OMIM:116400
Cataract 18	Nuclear cataract	OMIM:610019
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Stickler Syndrome, Type V	Cataract, Retinal detachment, Vitreoretinopathy	OMIM:614284
Visual Impairment And Progressive Phthisis Bulbi	Phthisis bulbi, Reduced visual acuity, Hypermetropia, Flat cornea	OMIM:618283
Gyrate Atrophy Of Choroid And Retina	Posterior subcapsular cataract, Blindness, Nyctalopia, Myopia, Visual impairment	OMIM:258870
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:1355
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Optic disc pallor, Microphthalmia	OMIM:613730
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t...	OMIM:617294
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Juvenile cataract	ORPHA:1264
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Supernumerary Nostril	Tessier cleft	ORPHA:141096
Joubert Syndrome 22	Intrauterine growth retardation, Retinal dysplasia, Coloboma, Microphthalmia	OMIM:615665
Nance-Horan Syndrome	Cataract, Microcornea, Retinal detachment, Microphthalmia	ORPHA:627
Mucoepithelial Dysplasia, Hereditary	Cataract, Corneal neovascularization, Keratoconjunctivitis, Melena, Opacification of the corneal ...	OMIM:158310
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Meckel Syndrome, Type 8	Depressed nasal ridge, Occipital encephalocele, Short nose, Anophthalmia, Encephalocele, Micropht...	OMIM:613885
X-Linked Neurodegenerative Syndrome, Hamel Type	Blindness	ORPHA:85336
Trisomy 13	Cataract, Optic atrophy, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Anophth...	ORPHA:3378
Herpes Simplex Virus Stromal Keratitis	Corneal perforation, Keratitis, Blindness, Blurred vision, Conjunctival hyperemia, Corneal stroma...	ORPHA:137599
Neonatal Adrenoleukodystrophy	Cataract, Ptosis, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Cavitary Optic Disc Anomalies	Visual field defect, Reduced visual acuity, Nyctalopia	OMIM:611543
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Steinfeld Syndrome	Bifid uvula, Aplasia of the nose, Median cleft palate, Microphthalmia	OMIM:184705
Stargardt Disease 3	Reduced visual acuity, Visual impairment	OMIM:600110
Cone-Rod Dystrophy, X-Linked, 1	Color vision defect, Reduced visual acuity, Nyctalopia, Myopia, Visual impairment, Photophobia	OMIM:304020
Crome Syndrome	Cerebellar dysplasia, Developmental cataract	OMIM:218900
Srd5A3-Cdg	Cataract, Optic atrophy, Optic disc hypoplasia, Spotty hyperpigmentation, Hypertrichosis, Colobom...	ORPHA:324737
Alport Syndrome 3A, Autosomal Dominant	Lenticonus, Anterior polar cataract	OMIM:104200
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Coloboma, Microphthalmia	ORPHA:141333
Rodrigues Blindness	Sclerocornea, Microcornea, Microphthalmia	OMIM:268320
Macrophthalmia, Colobomatous, With Microcornea	Microcornea, Increased axial length of the globe, Chorioretinal coloboma, Optic disc coloboma, Ma...	OMIM:602499
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Oculocerebrocutaneous Syndrome	Cleft palate, Orbital encephalocele, Anophthalmia, Microphthalmia	OMIM:164180
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism, Simple ear, Coloboma	OMIM:619318
Retinitis Pigmentosa 74	Posterior polar cataract	OMIM:616562
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Juvenile Glaucoma	Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art...	ORPHA:98977
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Short nose	OMIM:155050
Usher Syndrome Type 1	Iris hypopigmentation, Cataract, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia	ORPHA:231169
Joubert Syndrome 15	Exencephaly, Coloboma, Retinopathy, Retinal dystrophy	OMIM:614464
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Constriction of peripheral visual field, Central scotoma, Reduced...	OMIM:615233
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Pierre Robin Syndrome	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Sorsby Fundus Dystrophy	Blindness	OMIM:136900
Cone Rod Dystrophy	Color vision defect, Visual impairment, Photophobia, Nyctalopia	ORPHA:1872
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Short nose	ORPHA:2015
Walker-Warburg Syndrome	Cataract, Microcornea, Optic atrophy, Abnormal optic nerve morphology, Anophthalmia, Chorioretina...	ORPHA:899
Temporal Arteritis	Blindness	OMIM:187360
Microcephaly 6, Primary, Autosomal Recessive	Microtia	OMIM:608393
Generalized Eruptive Keratoacanthoma	Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca	ORPHA:411777
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
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	Microphthalmia, Facial palsy, Developmental cataract, Retinal dystrophy	OMIM:613155
Corneal Dystrophy, Meesmann, 2	Recurrent corneal erosions	OMIM:618767
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Bartsocas-Papas Syndrome 2	Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium	OMIM:619339
Retinitis Pigmentosa 20	Severely reduced visual acuity, Visual impairment, Nyctalopia	OMIM:613794
Optic Atrophy 16	Color vision defect, Visual loss, Central scotoma, Reduced visual acuity, Mildly reduced visual a...	OMIM:620629
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis	OMIM:268100
Bazex-Dupré-Christol Syndrome	Hypoplasia of the ear cartilage, Sparse eyebrow, Coarse hair, Macrotia, Trichorrhexis nodosa, Spa...	ORPHA:113
Smooth Muscle Dysfunction Syndrome	Mydriasis, Retinal infarction	OMIM:613834
Retinitis Pigmentosa 80	Blindness, Progressive visual loss, Nyctalopia	OMIM:617781
Retinitis Pigmentosa 72	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone...	OMIM:616469
Gyrate Atrophy Of Choroid And Retina	Cataract, Constriction of peripheral visual field, Blindness, Progressive night blindness, Subcap...	ORPHA:414
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Photophobia, Reduced visual acuity, Central scotoma, Nyctalopia	OMIM:616079
Retinitis Pigmentosa 27	Constriction of peripheral visual field, Blindness, Reduced visual acuity, Nyctalopia, Visual imp...	OMIM:613750
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type	Blindness, Severely reduced visual acuity	OMIM:309555
Prolonged Electroretinal Response Suppression 2	Photophobia, Reduced visual acuity, Difficulty adjusting to changes in luminance, Mildly reduced ...	OMIM:620344
Cataract 48	Cataract, Miosis	OMIM:618415
Retinitis Pigmentosa 18	Scotoma, Progressive visual field defects, Nyctalopia	OMIM:601414
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Mmep Syndrome	Visual impairment, Microphthalmia	ORPHA:3434
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma, Blindness	OMIM:204850
Retinitis Pigmentosa 85	Reduced visual acuity, Progressive night blindness	OMIM:618345
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Pigmentary retinopathy, Rod-cone dystrophy	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
Retinitis Pigmentosa 92	Paracentral scotoma, Constriction of peripheral visual field, Visual impairment, Nyctalopia	OMIM:619614
Nail-Patella Syndrome	Keratoconus, Microcornea, Cataract, Ridged nail, Anonychia, Lester's sign, Spina bifida, Concave ...	OMIM:161200
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Joubert Syndrome 23	Cerebellar dysplasia, Coloboma	OMIM:616490
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Coloboma, Generalized hypopigmentation, Microphthalmia, Iris transillumina...	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, Narrow mouth, Cleft palate	OMIM:239800
Sjögren-Larsson Syndrome	Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Retinop...	ORPHA:816
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Congenital Stationary Night Blindness	Color vision defect, Congenital stationary night blindness with abnormal fundus, Congenital stati...	ORPHA:215
Macular Dystrophy, Retinal, 2	Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal...	OMIM:608051
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
Usher Syndrome, Type Iiia	Visual field defect, Reduced visual acuity, Nyctalopia	OMIM:276902
Retinitis Pigmentosa 73	Color vision defect, Constriction of peripheral visual field, Blurred vision, Central scotoma, Vi...	OMIM:616544
Retinitis Pigmentosa 60	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi...	OMIM:613983
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Frontofacionasal Dysplasia	Tessier cleft, Encephalocele, Microphthalmia, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1791
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Solitary Median Maxillary Central Incisor	Choanal atresia, Anosmia, Decreased response to growth hormone stimulation test, Anophthalmia, Mi...	OMIM:147250
Lissencephaly 8	Cataract, Optic atrophy, Microphthalmia	OMIM:617255
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Focal Dermal Hypoplasia	Alopecia, Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Umbilical hernia, Spina...	ORPHA:2092
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea	OMIM:615877
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis, Microtia	OMIM:141300
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Short Syndrome	Cataract, Rieger anomaly, Astigmatism, Megalocornea	OMIM:269880
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Optic atrophy, Hypertrichosis, Coloboma, Abnormality of skin pigmentation, Microphthalmia	OMIM:612379
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo...	ORPHA:1529
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Posterior polar cataract	OMIM:117300
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Cone-Rod Dystrophy 24	Color vision defect, Scotoma, Reduced visual acuity, Pericentral scotoma, Nyctalopia, Myopia, Pho...	OMIM:620342
Macular Dystrophy, Retinal, 4	Reduced visual acuity, Nyctalopia	OMIM:619977
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 failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly	OMIM:300706
Retinitis Pigmentosa 37	Cystoid macular degeneration, Posterior subcapsular cataract, Nuclear cataract, Pigmentary retino...	OMIM:611131
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Proteus-Like Syndrome	Cataract, Abnormal pupil morphology, Heterochromia iridis, Retinal detachment, Limbal dermoid	ORPHA:2969
Immunodeficiency 10	Hypoplasia of the iris	OMIM:612783
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2435
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Warburg Micro Syndrome 1	Optic atrophy, Microcornea, Ptosis, Developmental cataract, Microphthalmia	OMIM:600118
Cone-Rod Dystrophy, X-Linked, 3	Abnormality of macular pigmentation, Astigmatism, Cone/cone-rod dystrophy, Retinal detachment, Op...	OMIM:300476
Temtamy Syndrome	Telecanthus, Iris coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:1777
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Trisomy 12P	Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia affecting the eye	ORPHA:1699
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Hypoplasia of the pons, Death in infancy, Hypoplasia of the brainstem	OMIM:225753
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris	ORPHA:169090
Retinitis Pigmentosa 3	Color vision defect, Constriction of peripheral visual field, High myopia, Reduced visual acuity,...	OMIM:300029
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:300717
Night Blindness, Congenital Stationary, Type 1H	Photophobia, Hypermetropia, Nyctalopia, Mild myopia	OMIM:617024
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma, Microphthalmia	OMIM:169550
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced visual acuity, Blindness	OMIM:601553
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta...	OMIM:616468
Holoprosencephaly 13, X-Linked	Micrognathia, Median cleft palate, Submucous cleft hard palate, Aplasia of the nose, Septo-optic ...	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	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Posterior embryotoxon	OMIM:617992
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Galloway-Mowat Syndrome 1	Cataract, Optic atrophy, Hypopigmentation of the skin, Small nail, Hypoplasia of the iris, Intrau...	OMIM:251300
Pierre Robin Syndrome And Oligodactyly	Cleft palate, Pierre-Robin sequence	OMIM:172880
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypoplasia of the iris, Ectopia pupillae, Cerebral hemorrhage, Ischemic stroke, Micr...	OMIM:175780
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Reduced visual acuity, Blindness, Progressive visual loss	OMIM:204200
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract, Retinal pigment epithelial mottling, Attenuatio...	OMIM:617547
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Anterior polar cataract	OMIM:620510
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma, Aplasia/Hypoplasia affecting the eye	ORPHA:1643
Meier-Gorlin Syndrome 8	Low-set ears, Microtia	OMIM:617564
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Broad nasal tip, Bulbous nose, Anteverted nares, Prominent nasal bridge, Anophthalmia	ORPHA:411986
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Respiratory failure, Neonatal respiratory distress	OMIM:619057
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology	ORPHA:2786
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Buphthalmos, Primary congenital glaucoma, Rieger anomaly, Retinal detachment	ORPHA:521445
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:77298
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia	ORPHA:2714
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Cone-Rod Dystrophy 15	Color vision defect, Constriction of peripheral visual field, Progressive visual loss, Nyctalopia...	OMIM:613660
X-Linked Intellectual Disability, Miles-Carpenter Type	Microcornea	ORPHA:85283
Serotonin Syndrome	Mydriasis	ORPHA:43116
Otodental Syndrome	Cataract, Microcornea, Retinal coloboma, Microphthalmia, Lens coloboma, Iris coloboma	ORPHA:2791
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Zika Virus Disease	Optic disc hypoplasia, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab...	ORPHA:89838
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Nance-Horan Syndrome	Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia	OMIM:302350
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Sparse lateral eyebrow, Astigmatism, Upslanted palpebral fissure, Long palpebral fissur...	OMIM:619694
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Chorioretinal degeneration, Posterior subcapsular cataract	OMIM:615458
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Exudative Vitreoretinopathy 4	Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d...	OMIM:601813
Mucolipidosis Iv	Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity	OMIM:252650
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Retinitis Pigmentosa 11	Constriction of peripheral visual field, Blindness, Reduced visual acuity, Nyctalopia	OMIM:600138
Fleck Retina, Familial Benign	Visual impairment, Nyctalopia	OMIM:228980
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi...	ORPHA:79431
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Dilated cardiomyopathy, Reduced systolic function, Microphthalmia	OMIM:618805
Macular Dystrophy, Retinal, 1, North Carolina Type	Reduced visual acuity, Central scotoma, Dyschromatopsia	OMIM:136550
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Retinal thinning, Macular atrophy, Abnormality of retinal pigmentation, Cone/co...	ORPHA:85167
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals, Constriction of peripheral visual field, High myopi...	OMIM:210370
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Cone-Rod Dystrophy 21	Photophobia, Reduced visual acuity, Nyctalopia	OMIM:616502
Non-Distal Duplication 10Q	Depressed nasal bridge, Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, Short nose	ORPHA:1695
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Aniridia, Hypertensive retinopathy	ORPHA:29072
Phenylketonuria	Fair hair, Cataract, Blue irides, Generalized hypopigmentation	OMIM:261600
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Cockayne Syndrome B	Sparse hair, Optic atrophy, Microcornea, Pigmentary retinopathy, Dry hair, Hypoplasia of the iris...	OMIM:133540
Cat-Eye Syndrome (Type I)	Iris coloboma	DECIPHER:42
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Wilson-Turner Syndrome	Hypogonadotropic hypogonadism, Thick eyebrow, Microtia	ORPHA:3459
Retinal Capillary Malformation	Blindness, Blurred vision, Vitreous floaters, Reduced visual acuity, Progressive visual loss, Amb...	ORPHA:71213
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 1	Reduced visual acuity, Central scotoma	OMIM:619382
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Deafness, X-Linked 7	Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can...	OMIM:301018
Retinitis Pigmentosa 1	Scotoma, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia, Myopia	OMIM:180100
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Abnormality of vision, Blindness, Keratoconjunctivitis sicca, Microphthalm...	ORPHA:1806
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract	ORPHA:85288
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Ring Chromosome 8 Syndrome	Anteverted nares, Short nose	ORPHA:1450
Osteoporosis-Pseudoglioma Syndrome	Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opac...	ORPHA:2788
Migraine, Familial Hemiplegic, 3	Photophobia, Blindness	OMIM:609634
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:48431
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Frontonasal Dysplasia 1	Cranium bifidum occultum, Cataract, Anterior basal encephalocele, Coloboma, Microphthalmia, Widow...	OMIM:136760
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ...	ORPHA:69125
Fundus Albipunctatus	Fundus albipunctatus, Nyctalopia	OMIM:136880
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:616081
Retinitis Pigmentosa 68	Visual field defect, Reduced visual acuity, Nyctalopia	OMIM:615725
Blue Cone Monochromacy	Visual impairment, Reduced visual acuity, Myopia, Blue cone monochromacy, Photophobia	OMIM:303700
Microtia	Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin...	ORPHA:83463
Focal Dermal Hypoplasia	Chorioretinal coloboma, Supernumerary nipple, Absent toenail, Anophthalmia, Brittle hair, Microph...	OMIM:305600
Hydrolethalus	Bifid uvula, Gingival cleft, Unilateral cleft lip, Anophthalmia, Submucous cleft hard palate, Mic...	ORPHA:2189
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Astigmatism, Epicanthus, Ptosis, Blepharophimos...	OMIM:108145
Cleft Palate-Lateral Synechia Syndrome	Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia	ORPHA:2016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Retinal degeneration, Coloboma, Hydrocephalus, Microphthalmia	OMIM:615249
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Anterior polar cataract	OMIM:250420
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Neonatal death, Respiratory insufficiency due to muscle w...	OMIM:611890
Retinal Cone Dystrophy 3A	Dyschromatopsia, High myopia, Reduced visual acuity, Nyctalopia, Photophobia	OMIM:610024
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the an...	ORPHA:79098
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Developmental cataract, Corneal opacity	OMIM:618815
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia	OMIM:616531
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi...	OMIM:602588
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of r...	OMIM:300578
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Cataract, Pigmentary retinopathy, Peripheral demyelination, Attenuation of retinal...	OMIM:609033
Night Blindness, Congenital Stationary, Type 1F	Reduced visual acuity, High myopia, Nyctalopia, Congenital stationary night blindness	OMIM:615058
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Retinitis Pigmentosa 63	Blurred vision, Nyctalopia	OMIM:614494
Tritanopia	Color vision test abnormality, Reduced visual acuity, Photophobia, Tritanomaly	ORPHA:88629
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ...	ORPHA:733
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Mottled pigmentation, Alopecia, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot...	ORPHA:79397
Ectopia Lentis 1, Isolated, Autosomal Dominant	Retinal detachment, Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:129600
Retinitis Pigmentosa 17	Color vision defect, Photophobia, Nyctalopia	OMIM:600852
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic atrophy, Abnormality iris morphology, Occipital encephalocele, Megalocornea, Colo...	ORPHA:370959
Cleft Palate, Isolated	Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum...	OMIM:256710
Sjogren-Larsson Syndrome	Macular degeneration, Retinal thinning, Astigmatism, Macular dots, Opacification of the corneal e...	OMIM:270200
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hyperpigmentation of the skin, Hypopigmented skin patches	ORPHA:2819
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo...	ORPHA:79493
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Kniest Dysplasia	Cataract, Vitreoretinopathy, Degenerative vitreoretinopathy, Retinal detachment, Aplasia/Hypoplas...	ORPHA:485
Temtamy Syndrome	Highly arched eyebrow, Ectopia lentis, Chorioretinal coloboma, Downslanted palpebral fissures, Mi...	OMIM:218340
Xeroderma Pigmentosum Variant	Freckles in sun-exposed areas, Hypopigmentation of the skin, Keratitis, Hyperpigmentation of the ...	ORPHA:90342
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Cone-Rod Dystrophy 2	Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher...	OMIM:120970
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia	OMIM:618727
Abruzzo-Erickson Syndrome	Microcornea, Coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:921
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411515
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Decreased thalamic volume, Hypoplasia of the brainstem	OMIM:613668
3-Hydroxyisobutyric Aciduria	Hypogonadotropic hypogonadism, Microtia	ORPHA:939
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Retinopathy	OMIM:610951
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus	OMIM:620058
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges	High palate, Prominent nasal bridge, Prominent nose, Underdeveloped nasal alae	OMIM:106995
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia affecting the eye, Microtia	ORPHA:1703
Bardet-Biedl Syndrome 9	Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p...	OMIM:615986
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease...	OMIM:614170
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ...	ORPHA:2481
Norrie Disease	Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Micro...	ORPHA:649
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Abnormality of the outer ear, Absent tragus, Conductive hearing impairment, Atresia...	ORPHA:79113
X-Linked Immunoneurologic Disorder	Cataract, Nyctalopia	ORPHA:2571
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior 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	Retinal dysplasia, Hydrocephalus, Microphthalmia	OMIM:614830
Insulin-Like Growth Factor I, Resistance To	Highly arched eyebrow, Intrauterine growth retardation, Rieger anomaly, Thick eyebrow, Sparse sca...	OMIM:270450
Otodental Dysplasia	Coloboma, Delayed eruption of teeth	OMIM:166750
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Anteverted nares, Respiratory failure, Short nose	ORPHA:1832
Alazami-Yuan Syndrome	Underdeveloped nasal alae, Prominent nose, Prominent nasal bridge, High palate, Low hanging colum...	OMIM:617126
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Sparse eyebrow, Cupped ear, Coloboma, Microphthalmia, Widow's peak	OMIM:167730
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Abnormally large globe, Short nose	OMIM:611936
Tropical Calcific Pancreatitis	Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas	OMIM:608189
Joubert Syndrome 16	Coloboma, Encephalocele, Retinal dystrophy	OMIM:614465
Spondylometaphyseal Dysplasia, X-Linked	Wide nasal bridge, Depressed nasal bridge, Respiratory insufficiency, Anteverted nares, Respirato...	OMIM:313420
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Cerebrooculofacioskeletal Syndrome 2	Cataract, Developmental cataract, Microphthalmia	OMIM:610756
17Q21.31 Microduplication Syndrome	Anteverted nares, Short nose	ORPHA:217340
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Short nose, Narrow naris	OMIM:122880
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Retinitis Pigmentosa 69	Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:615780
Dubowitz Syndrome	Sparse lateral eyebrow, Hypoplasia of the iris, Megalocornea, Intrauterine growth retardation, Ro...	OMIM:223370
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Neurofibroma	Intestinal bleeding, Enlarged peripheral nerve, Neurofibroma, Peripheral schwannoma, Symmetric sp...	ORPHA:252183
Multiple Sulfatase Deficiency	Cataract, Optic atrophy, Thick eyebrow, Abnormality of peripheral nerve conduction, Abnormality o...	ORPHA:585
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Hep...	ORPHA:65682
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Abnormality of retinal pigmentation	ORPHA:3085
Baraitser-Winter Syndrome 2	Highly arched eyebrow, Hearing impairment, Coloboma, Microphthalmia, Abnormal pinna morphology	OMIM:614583
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Sparse eyebrow, Hamartoma of the orbital region, Bilateral microphthalmos, Lacrimal pun...	ORPHA:2399
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Adenylosuccinate Lyase Deficiency	Anteverted nares, Short nose	ORPHA:46
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Cerebellar dysplasia, Hypoplasia of...	ORPHA:101070
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Cone-Rod Dystrophy 13	Color vision defect, Reduced visual acuity, Visual impairment, Photophobia	OMIM:608194
Macular Dystrophy, Patterned, 1	Metamorphopsia, Reduced visual acuity, Photophobia, Nyctalopia	OMIM:169150
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Microtia	OMIM:612138
Kid Syndrome	Keratitis, Corneal neovascularization, Limbal stem cell deficiency, Punctate keratitis, Keratocon...	ORPHA:477
Retinitis Pigmentosa 75	Rod-cone dystrophy, Mixed astigmatism, Bone spicule pigmentation of the retina, Attenuation of re...	OMIM:617023
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Mydriasis, Optic atrophy	OMIM:259720
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Retinal pigment epithelial mottling, Peripheral axonal neuropathy	OMIM:619389
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Fusion of the left and right thalami, Midline brainstem cleft, Hypoplasia of the pons	OMIM:617542
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Depressed nasal bridge, High palate, Delayed eruption of teeth, Underdeveloped nasal alae	ORPHA:2025
Cone Dystrophy 4	Photophobia, Reduced visual acuity, Visual impairment, Dyschromatopsia	OMIM:613093
Ring Chromosome 14 Syndrome	Pigmentary retinopathy, Downslanted palpebral fissures, Almond-shaped palpebral fissure, Epicanth...	OMIM:616606
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Abnormality of macular pigmentation, Optic disc coloboma, Ectopia pupillae, Retinal thinning, Mac...	OMIM:608940
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Johnson Neuroectodermal Syndrome	Alopecia, Conductive hearing impairment, Atresia of the external auditory canal, Hypogonadism, Pr...	ORPHA:2316
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Leukocoria, Retinal calcification, Vitritis	OMIM:180200
Refsum Disease	Cataract, Abnormality of retinal pigmentation, Retinopathy, Ptosis, Microphthalmia	ORPHA:773
Optic Atrophy 12	Abnormal Ishihara plate test, Photophobia, Reduced visual acuity, Dyschromatopsia	OMIM:618977
Cerebrooculofacioskeletal Syndrome 3	Low-set ears, Microphthalmia	OMIM:616570
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormality of the dentition, Carious teeth, Tooth agenesis, Abnormal palate morph...	ORPHA:1786
Bresek Syndrome	Alopecia, Intrauterine growth retardation, Neonatal death, Hydrocephalus, Microphthalmia, Iris co...	ORPHA:85284
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
Familial Dysautonomia	Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion	ORPHA:1764
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Convex nasal ridge, Short nose	OMIM:200130
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Hypogonadism, Low posterior hairline, Abnormal hair pattern, S...	ORPHA:2983
Hypomelanosis Of Ito	Cataract, Alopecia, Iris coloboma, Macular hypopigmented whorls, streaks, and patches	OMIM:300337
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism	OMIM:614171
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy	OMIM:551500
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Iris coloboma, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Short nose	ORPHA:1906
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Retinitis Pigmentosa	Constriction of peripheral visual field, Nyctalopia	OMIM:268000
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract, Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ...	OMIM:268315
Leber Congenital Amaurosis 14	Photophobia, Congenital blindness, Reduced visual acuity, Nyctalopia	OMIM:613341
Variant Abeta2M Amyloidosis	Amyloidosis of peripheral nerves, Abnormal salivary gland morphology, Abnormal autonomic nervous ...	ORPHA:314652
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
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Retinal pigment epithelial mottling, Downslanted palpebral fissures, Epicanthus, Microp...	OMIM:614105
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Anterior polar cataract, Posterior embryotoxon, Hypoplasia of the iris	OMIM:619194
Retinitis Pigmentosa 79	Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:617460
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy, Subcapsular cataract	OMIM:268020
Macular Degeneration, Atrophic, X-Linked	Reduced visual acuity	OMIM:300834
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Pituitary Apoplexy	Mydriasis	ORPHA:95613
Vici Syndrome	Cataract, Optic atrophy, Hypopigmentation of the skin, Abnormal macular morphology, Abnormality o...	ORPHA:1493
Zechi-Ceide Syndrome	Low-set ears, Abnormal helix morphology, Conductive hearing impairment, Small nail, Abnormal earl...	ORPHA:217017
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Alopecia, Cupped ear, Conductive hearing impairment, Stenosis of the external audit...	OMIM:616367
Craniotelencephalic Dysplasia	Visual impairment, Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Microtia	OMIM:618158
Intellectual Developmental Disorder, X-Linked 91	Short nose	OMIM:300577
Xeroderma Pigmentosum, Complementation Group B	Cataract, Pigmentary retinopathy, Optic atrophy, Decreased nerve conduction velocity, Freckling, ...	OMIM:610651
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract	OMIM:620425
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Immunodeficiency 95	Recurrent viral upper respiratory tract infections, Respiratory failure	OMIM:619773
Pterygium Colli, Isolated	Short nose	OMIM:177990
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy, Corneal opacity	ORPHA:578
Mend Syndrome	Macular hypoplasia, Cataract, Anterior polar cataract	OMIM:300960
Ramon Syndrome	Abnormal anterior chamber morphology, Abnormality of retinal pigmentation	ORPHA:3019
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Microtia, Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear	OMIM:251800
Macular Dystrophy, Vitelliform, 3	Color vision defect, Metamorphopsia, Reduced visual acuity, Photophobia, Visual impairment	OMIM:608161
Oculotrichoanal Syndrome	Bifid nasal tip, Anophthalmia, Microphthalmia	ORPHA:2717
Retinitis Pigmentosa 54	Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina...	OMIM:613428
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Anterior polar cataract	OMIM:619575
Chromosome 22Q11.2 Deletion Syndrome, Distal	Underdeveloped nasal alae, Intrauterine growth retardation, Malar flattening, Cleft palate	OMIM:611867
Classic Phenylketonuria	Cataract, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Decreased thalamic volume, Hypoplasia of the brainstem	OMIM:619072
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr...	ORPHA:139507
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Low-set ears, Synophrys, Hirsutism, Microtia	ORPHA:357175
Curry-Jones Syndrome	Hypopigmented skin patches, Optic disc coloboma, Generalized hirsutism, Microphthalmia, Iris colo...	ORPHA:1553
Retinitis Pigmentosa 61	Visual impairment, Nyctalopia	OMIM:614180
Pierpont Syndrome	Abnormal peripheral nervous system morphology, Microcornea, Unilateral narrow palpebral fissure, ...	OMIM:602342
Matthew-Wood Syndrome	Annular pancreas, Anophthalmia, Cryptorchidism, Abnormal spleen morphology, Microphthalmia, Aplas...	ORPHA:2470
Microphthalmia-Brain Atrophy Syndrome	Blindness, Bilateral microphthalmos	ORPHA:77299
Retinitis Pigmentosa	Keratoconus, Posterior subcapsular cataract, Optic atrophy, Attenuation of retinal blood vessels,...	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	Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch...	OMIM:148820
Congenital Fibrosis Of Extraocular Muscles	Cataract, Abnormal pupil shape, Slow pupillary light response, Miosis, Anisocoria, Optic nerve hy...	ORPHA:45358
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Cataract	OMIM:620461
Joubert Syndrome 36	Anteverted nares, Molar tooth sign on MRI	OMIM:618763
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Developmental...	OMIM:613154
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Absent skin pigmentation, Blue...	OMIM:203100
Parenti-Mignot Neurodevelopmental Syndrome	Low-set ears, Cupped ear, Microtia, Posteriorly rotated ears, Synophrys	OMIM:619873
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus	OMIM:144300
Long-Olsen-Distelmaier Syndrome	Cataract, Microspherophakia, Death in childhood, Optic nerve hypoplasia	OMIM:620609
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Mydriasis, Optic nerve compression, Optic neuropathy	OMIM:619727
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Hydrocephalus, Stillbirth, Aqueductal stenosis, Respiratory failure	OMIM:276950
Optic Atrophy 15	Photophobia, Reduced visual acuity, Central scotoma, Dyschromatopsia	OMIM:620583
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Holoprosencephaly 1	Aplasia of the nose, Median cleft palate, Proboscis, Microphthalmia	OMIM:236100
Albinism-Deafness Syndrome	Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism	OMIM:300700
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Developmental And Epileptic Encephalopathy 35	Cataract	OMIM:616647
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Amyotrophic lateral sclerosis	OMIM:613435
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Autism, Susceptibility To, X-Linked 6	Underdeveloped nasal alae	OMIM:300872
Poretti-Boltshauser Syndrome	Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar cyst	OMIM:615960
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Leukodystrophy, Hypomyelinating, 14	Blindness	OMIM:617899
Carey-Fineman-Ziter Syndrome 2	High, narrow palate, Velopharyngeal insufficiency, Underdeveloped nasal alae, Anteverted nares, M...	OMIM:619941
Retinitis Pigmentosa 38	Constriction of peripheral visual field, Progressive visual loss, Nyctalopia	OMIM:613862
Monilethrix	Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai...	ORPHA:573
Humero-Radial Synostosis	Aplasia/Hypoplasia affecting the eye, Iris coloboma, Chorioretinal coloboma	ORPHA:3265
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Respiratory failure, Respiratory insufficiency due to mus...	ORPHA:2590
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Peters anomaly, Chorioretinal coloboma, Astigmatism, Epicanthus, Broad eyebrow, Pt...	ORPHA:494344
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception	OMIM:175510
Neurotrophic Keratopathy	Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e...	ORPHA:137596
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Microphthalmia	ORPHA:93267
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Hypopigmentation of the fundus, Epicanthus, Long palpebral fissure, Retinal detachment,...	ORPHA:163649
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Microtia	ORPHA:2547
Cone Dystrophy 3	Photophobia, Reduced visual acuity, Progressive visual loss	OMIM:602093
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Adams-Oliver Syndrome 2	Optic atrophy, Narrow palpebral fissure, Developmental cataract, Microphthalmia	OMIM:614219
Intellectual Developmental Disorder, Autosomal Recessive 35	Low-set ears, Synophrys, Hirsutism, Microtia	OMIM:615162
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anosmia, Hyposmia, Anophthalmia, Absent nares, Microphthalmia, Single naris	ORPHA:2250
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Ptosis, Facial palsy, Abnormality of retinal pigmentation	ORPHA:2743
Coxoauricular Syndrome	Atresia of the external auditory canal, Hearing impairment, Microtia	ORPHA:1508
Arachnoid Cyst	Mydriasis	ORPHA:2356
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia of the nose, Microphthalmia	ORPHA:3186
Clouston Syndrome	Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Spar...	OMIM:129500
Potocki-Shaffer Syndrome	Broad nasal tip, Underdeveloped nasal alae, Depressed nasal tip, Micrognathia, Prominent nasal br...	ORPHA:52022
Congenital Toxoplasmosis	Hydrocephalus, Intrauterine growth retardation, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:858
Oculofaciocardiodental Syndrome	Cataract, Microcornea, Highly arched eyebrow, Ectopia lentis, Ptosis, Retinal detachment, Microph...	ORPHA:2712
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Conductive hearing impairment, Microtia	OMIM:248910
Warburg-Cinotti Syndrome	Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness	OMIM:618175
Congenital Muscular Dystrophy With Intellectual Disability	Abnormal pons morphology, Fatigable weakness of skeletal muscles, Respiratory failure, Respirator...	ORPHA:370968
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Horizontal eyebrow, Retinal coloboma, Astigmatism, Epicanthus, Narrow palpebral fissure...	OMIM:618571
Nemaline Myopathy 8	Respiratory failure, Death in infancy	OMIM:615348
Tubulinopathy-Associated Dysgyria	Abnormal thalamus morphology, Abnormal brainstem morphology, Hypoplasia of the pons	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, Abnormality of the dentition, Branchial fistula, Cleft upper lip, Tooth agenesis, ...	ORPHA:861
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cataract, Microphthalmia	OMIM:301108
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Atrophy/Degeneration affecting the brainstem	OMIM:616277
Acrocephalopolydactyly	Microtia	ORPHA:221054
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Whistling Face Syndrome, Recessive Form	Microglossia, Underdeveloped nasal alae, Micrognathia, Prominent nasal bridge, Malar flattening, ...	OMIM:277720
Usher Syndrome, Type Iid	Nyctalopia	OMIM:611383
Severe Oculo-Renal-Cerebellar Syndrome	Cataract, Optic atrophy, Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnorma...	ORPHA:2715
Charcot-Marie-Tooth Disease Type 1E	Abnormal pupil morphology, Slow pupillary light response, Tonic pupil, Anisocoria	ORPHA:90658
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Retinitis Pigmentosa 70	Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:615922
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Anisocoria	OMIM:231550
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Sparse eyelashes, Conductive hearing impairment, Atresia of the external auditory canal, Microtia	OMIM:300946
Retinitis Pigmentosa 90	Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:619007
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Spotty hyperpigmentation, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin, Hypomela...	ORPHA:79399
Micro Syndrome	Cataract, Microcornea, Optic atrophy, Retinal coloboma, Abnormality of retinal pigmentation, Micr...	ORPHA:2510
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Knobloch Syndrome 1	Band keratopathy, Vitreoretinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy,...	OMIM:267750
Bickerstaff Brainstem Encephalitis	Mydriasis, Anisocoria	ORPHA:79138
Coach Syndrome 2	Coloboma, Hydrocephalus, Chorioretinal coloboma	OMIM:619111
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract	ORPHA:67048
6Q16 Microdeletion Syndrome	Low-set ears, Thick eyebrow, Abnormal ear morphology, Microtia	ORPHA:171829
Short Stature And Facioauriculothoracic Malformations	Low-set ears, Overfolded helix, Cupped ear, Microtia	OMIM:609654
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Fatiguable weakness of proximal limb muscles, Respiratory failure, Respiratory failure requiring ...	ORPHA:90117
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Warburg Micro Syndrome 4	Optic atrophy, Microcornea, Decreased motor nerve conduction velocity, Ptosis, Developmental cata...	OMIM:615663
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Night Blindness, Congenital Stationary, Type 1E	Reduced visual acuity, High myopia, Visual impairment, Congenital stationary night blindness	OMIM:614565
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Retinal dysplasia, Microphthalmia	OMIM:615771
Meckel Syndrome	Cataract, Microcornea, Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Encephalocele...	ORPHA:564
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Bardet-Biedl Syndrome 21	Hypoplasia of the fovea, Myopia, Constriction of peripheral visual field, Blindness	OMIM:617406
Ceroid Lipofuscinosis, Neuronal, 10	Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Holoprosencephaly, Hydrocephalus	OMIM:617967
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Microcornea, Small nail, Trichorrhexis nodosa, Brittle hair, Concave nail, Nail dy...	OMIM:234050
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Warburg Micro Syndrome 3	Cataract, Microcornea, Optic atrophy, Blepharophimosis, Developmental cataract, Microphthalmia, S...	OMIM:614222
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, Telecanthus,...	ORPHA:897
Flynn-Aird Syndrome	Cataract, Alopecia, Alopecia of scalp, Rod-cone dystrophy	OMIM:136300
Weiss-Kruszka Syndrome	Low-set ears, Highly arched eyebrow, Cupped ear, Hearing impairment, Horizontal crus of helix, Hy...	OMIM:618619
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Cataract, Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Axonal degeneration...	ORPHA:88628
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Blindness	ORPHA:2787
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory failure, Respiratory insufficiency	ORPHA:266
Achromatopsia 2	Myopic astigmatism, Hypoplasia of the fovea, Reduced visual acuity, Achromatopsia, Nyctalopia, Ph...	OMIM:216900
Wolfram Syndrome 1	Cataract, Pigmentary retinopathy, Ptosis, Optic atrophy	OMIM:222300
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Peripheral axonal neuropathy, Pigmentary retinopathy	OMIM:619090
Hereditary Bullous Dystrophy, Macular Type	Cataract, Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the s...	ORPHA:1867
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Epicanthus, Rod-cone dystrophy	OMIM:264470
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia, Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to ...	OMIM:616030
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Marfan Syndrome	Aortic regurgitation, Cataract, Microspherophakia, Increased axial length of the globe, Ectopia l...	OMIM:154700
Adams-Oliver Syndrome 4	Umbilical hernia, Microphthalmia	OMIM:615297
Familial Adenomatous Polyposis 3	Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c...	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, High myopia, Central scotoma, Reduced visual acuity, Tri...	OMIM:615973
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Boomerang Dysplasia	Wide nasal bridge, Hypoplastic nasal septum, Underdeveloped nasal alae, Neonatal death	OMIM:112310
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Alternating Hemiplegia Of Childhood	Mydriasis	ORPHA:2131
Manitoba Oculotrichoanal Syndrome	Bifid nasal tip, Broad nasal tip, Anophthalmia, Microphthalmia	OMIM:248450
9q subtelomeric deletion syndrome	Anteverted nares, Short nose	DECIPHER:52
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:79084
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness	OMIM:229200
Marfan Syndrome	Aortic regurgitation, Increased axial length of the globe, Ectopia lentis, Hypoplasia of the iris...	ORPHA:558
Macular Dystrophy With Central Cone Involvement	High myopia, Central scotoma, Reduced visual acuity, Red-green dyschromatopsia, Visual impairment	OMIM:616170
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, White hair, Ocular albinism, Hydrocephalus, Generalized hypopigm...	ORPHA:2720
Joint Laxity, Short Stature, And Myopia	Retinal detachment, Iris coloboma, Chorioretinal coloboma	OMIM:617662
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose	OMIM:618379
Developmental Delay, Dysmorphic Facies, And Brain Anomalies	Low-set ears, Thick eyebrow, Microtia	OMIM:620535
Hurler-Scheie Syndrome	Corneal opacity	ORPHA:93476
Microphthalmia With Limb Anomalies	Flared nostrils, Depressed nasal bridge, Retrognathia, Short nose, Anophthalmia, Microphthalmia, ...	OMIM:206920
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Pigmentary retinopathy, Short palpebral fissure, Downslanted palpebral fissures, Epican...	OMIM:614230
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor...	ORPHA:1248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Optic atrophy, Peters anomaly, Occipital encephalocele, Megalocornea, Retinal atrophy, ...	OMIM:236670
Joubert Syndrome 40	Depressed nasal bridge, Molar tooth sign on MRI, Optic nerve hypoplasia	OMIM:619582
Harel-Yoon Syndrome	Developmental cataract, Corneal opacity	OMIM:617183
Oculocerebrocutaneous Syndrome	Tessier cleft, Orofacial cleft, Wide mouth	ORPHA:1647
Dermatitis, Atopic	Conjunctivitis, Keratoconus, Cataract	OMIM:603165
Gastrointestinal Stromal Tumor	Neoplasm of the colon, Abnormality of the liver, Skin rash, Esophageal neoplasm, Intestinal obstr...	ORPHA:44890
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Retinal Cone Dystrophy 4	Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment	OMIM:610478
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Crouzon Syndrome	Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Hydrocephalus, Conjunctivitis, Iris...	ORPHA:207
Weiss-Kruszka Syndrome	Prominent nasal tip, Short nose	ORPHA:502430
Isotretinoin Syndrome	Abnormality of the outer ear, Hypoplastic toenails, Microtia	ORPHA:2305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Microphthalmia, Buphthalmos, Persistent pupillary membrane	OMIM:613150
Fanconi Anemia, Complementation Group J	Intrauterine growth retardation, Multiple cafe-au-lait spots, Microphthalmia	OMIM:609054
Mulibrey Nanism	Astigmatism, Pigmentary retinopathy, Iris coloboma, Corneal dystrophy	OMIM:253250
Holoprosencephaly 3	Depressed nasal bridge, Abnormality of the nose, Proboscis, Short columella, Single naris	OMIM:142945
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Liver abscess, Cholecystitis, Sclero...	ORPHA:69663
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Lip pit, Abnormal palate morphology, Hypodontia, Microphthalmia	ORPHA:1236
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Short nose	ORPHA:438178
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ...	ORPHA:370022
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Alg3-Cdg	Cataract, Hypopigmentation of the skin, Neural tube defect	ORPHA:79321
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Sparse eyebrow, Stenosis of the external auditory canal, Sensorineural hearing impairment, Low po...	OMIM:606164
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Papillorenal Syndrome	Cataract, Macular degeneration, Optic disc coloboma, Retinal coloboma, Morning glory anomaly, Cho...	OMIM:120330
Phace Association	Optic atrophy, Horner syndrome, Increased retinal vascularity, Developmental cataract, Microphtha...	OMIM:606519
Postaxial Acrofacial Dysostosis	Cupped ear, Conductive hearing impairment, Supernumerary nipple, Low-set, posteriorly rotated ear...	ORPHA:246
Microtia-Anotia	Anotia, Microtia	OMIM:600674
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract	OMIM:615352
Joubert Syndrome 14	Optic atrophy, Highly arched eyebrow, Encephalocele, Coloboma, Hydrocephalus, Microphthalmia, Men...	OMIM:614424
Usher Syndrome Type 2	Iris hypopigmentation, Cataract, Scotoma, Visual loss, Nyctalopia, Hemianopia, Myopia	ORPHA:231178
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Bifid nasal tip, Underdeveloped nasal alae, Intrauterine grow...	ORPHA:521308
Constricting Bands, Congenital	Tessier cleft, Cleft palate, Encephalocele, Cleft upper lip	OMIM:217100
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Microtia	OMIM:141400
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Umbilical hernia, Microphthalmia	OMIM:618914
Wildervanck Syndrome	Lens subluxation, Pseudopapilledema, Facial palsy	ORPHA:3456
Griscelli Syndrome Type 2	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair	ORPHA:79477
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology	ORPHA:397725
Bothnia Retinal Dystrophy	Nyctalopia	OMIM:607475
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Retinal dystrophy, Microphthalmia	OMIM:616538
Eem Syndrome	Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy, Absent eyebrow	ORPHA:1897
Mosaic Trisomy 9	Tessier cleft, Intestinal malrotation, Spina bifida, Microphthalmia, High palate, Cleft palate	ORPHA:99776
Cockayne Syndrome Type 2	Conjunctivitis, Anophthalmia, Developmental cataract, Uveitis	ORPHA:90322
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Irregular hyperpigmentation, Retinopathy, Epicanthus, Microphthalmia	ORPHA:2505
Incontinentia Pigmenti	Supernumerary nipple, Hypoplasia of the fovea, Retinal detachment, Microphthalmia, Sparse hair, O...	OMIM:308300
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Cataract, Microcornea, Iris coloboma, Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc...	OMIM:600803
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail...	ORPHA:2251
Peroxisome Biogenesis Disorder 9B	Cataract, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:614879
Leber Congenital Amaurosis 15	Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Per...	OMIM:613843
Laron Syndrome	Depressed nasal ridge, Hypoplastic nasal bridge, Delayed eruption of teeth, Aplasia/Hypoplasia in...	ORPHA:633
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion, Hyposmia	OMIM:613724
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis	OMIM:619290
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Oculoskeletodental Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad columella, Abnormal thalamus morphology, Thick n...	ORPHA:557003
Hermansky-Pudlak Syndrome 8	Silver-gray hair, Albinism, Myopic astigmatism, Ocular albinism, Astigmatism, Hypoplasia of the f...	OMIM:614077
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Hypoplasia of the pons, Degeneration of anterior horn cells	ORPHA:2254
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Blindness, Megalocornea	OMIM:164900
Revesz Syndrome	Leukocoria, Exudative retinopathy, Megalocornea	OMIM:268130
Congenital Myopathy 14	Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness	OMIM:618414
Perlman Syndrome	Hepatomegaly, Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology	ORPHA:2849
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Branchio-Oculo-Facial Syndrome	Cataract, Microcornea, Premature graying of hair, Fingernail dysplasia, Intrauterine growth retar...	ORPHA:1297
Hypertelorism-Microtia-Facial Clefting Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Microtia	ORPHA:2213
Retinoblastoma	Hypopyon, Subretinal pigment epithelium hemorrhage, Retinoblastoma, Abnormality of retinal pigmen...	ORPHA:790
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Weaver-Williams Syndrome	Narrow mouth, Cleft palate	ORPHA:3448
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Chromosome 17Q12 Duplication Syndrome	Peters anomaly, Microphthalmia	OMIM:614526
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	ORPHA:404454
Warburg Micro Syndrome 2	Cataract, Microcornea, Optic atrophy, Developmental cataract, Microphthalmia	OMIM:614225
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Upslanted palpebral fissur...	OMIM:214110
Sialidosis Type 2	Corneal opacity	ORPHA:87876
Optic Atrophy 1	Centrocecal scotoma, Central scotoma, Reduced visual acuity, Red-green dyschromatopsia, Tritanoma...	OMIM:165500
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2182
Noonan Syndrome 2	Anterior polar cataract	OMIM:605275
Muir-Torre Syndrome	Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor...	OMIM:158320
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Wide nasal bridge, Depressed nasal bridge, Abnormal thalamus morphology, Anteverted nares, Abnorm...	ORPHA:404440
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Wide nasal bridge, Molar tooth sign on MRI	ORPHA:166024
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Even-Plus Syndrome	Highly arched eyebrow, Synophrys, Sparse hair, Microtia	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	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Microphthalmia, Scl...	OMIM:300952
Cone-Rod Dystrophy And Hearing Loss 2	Photophobia, Reduced visual acuity	OMIM:618358
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan...	OMIM:167800
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Short nasal septum, Short nose	OMIM:302950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Encephalocele, Death in childhood, Death in infancy, Retinal detachment...	OMIM:614643
Mody	Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc...	ORPHA:552
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Optic nerve hypoplasia, Corneal opacity	ORPHA:496790
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Ptosis, Retinal degeneration	OMIM:520000
Mietens Syndrome	Sclerocornea, Cataract, Microcornea, Corneal opacity	ORPHA:2557
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Ethmoidal encephalocele, Hypoplasia of the pons, Anterior hypopitui...	ORPHA:280195
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Fanconi Anemia, Complementation Group G	Multiple cafe-au-lait spots, Microphthalmia	OMIM:614082
Infantile Sialic Acid Storage Disease	Hydrocephalus, Hypopigmentation of the skin, Fair hair, Death in childhood	OMIM:269920
Hypogonadotropic Hypogonadism 27 Without Anosmia	Anosmia, Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal...	OMIM:619755
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Anosmia, Decreased serum estradiol, Hypogonadism, Decreased testicular size, Decreased serum test...	OMIM:614897
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Bifid uvula, Nasal polyposis, Median cleft upper lip, High palate, Iris coloboma	OMIM:155145
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Sandhoff Disease	Blindness	ORPHA:796
Parietal Foramina With Cleidocranial Dysplasia	Microtia	OMIM:168550
Atelis Syndrome 1	Cafe-au-lait spot, Irregular hyperpigmentation, Glue ear, Microtia	OMIM:620184
Proboscis Lateralis	Chorioretinal coloboma, Unilateral narrow palpebral fissure, Anophthalmia, Abnormal nasolacrimal ...	ORPHA:141099
Alacrima, Congenital, Autosomal Recessive	Punctate corneal epithelial erosions	OMIM:601549
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Persistent pupillary membrane, Microphthalmia	OMIM:257850
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Baraitser-Winter Syndrome 1	Highly arched eyebrow, Chorioretinal coloboma, Epicanthus, Long palpebral fissure, Ptosis, Microp...	OMIM:243310
Griscelli Syndrome	Iris hypopigmentation, Silver-gray hair, Hypopigmented skin patches, White hair, Premature grayin...	ORPHA:381
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	Broad nasal tip, Short nose	OMIM:613670
Sandestig-Stefanova Syndrome	Highly arched eyebrow, Sparse medial eyebrow, Epicanthus, Developmental cataract, Microphthalmia,...	OMIM:618804
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Stevenson-Carey Syndrome	Low-set ears, Coloboma, Posteriorly rotated ears, Microphthalmia	OMIM:611961
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy of the spinal cord...	OMIM:602433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Respiratory failure, Amyotrophic lateral sclerosis	OMIM:613954
Paganini-Miozzo Syndrome	Low-set ears, Posteriorly rotated ears, Microtia	OMIM:301025
Retinitis Pigmentosa 6	Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy	OMIM:312612
Lissencephaly 5	Hydrocephalus, Cataract, Optic atrophy, Occipital encephalocele	OMIM:615191
Potocki-Shaffer Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Short nose	OMIM:601224
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Low-set ears, Long eyelashes, Posteriorly rotated ears, Microtia	OMIM:618089
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden...	ORPHA:454840
Trichothiodystrophy 1, Photosensitive	Cataract, Microcornea, Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Brittle h...	OMIM:601675
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip, Microphthalmia	OMIM:614402
Alexander Disease Type I	Hydrocephalus, Abnormal thalamic MRI signal intensity	ORPHA:363717
Camptodactyly Syndrome, Guadalajara Type 1	Highly arched eyebrow, Low-set, posteriorly rotated ears, Melanocytic nevus, Attached earlobe, Sy...	ORPHA:1327
Trichinellosis	Abnormal optic nerve morphology, Central retinal artery occlusion, Conjunctival hyperemia, Anisoc...	ORPHA:863
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Ocular albinism	ORPHA:370091
Vitamin K Antagonist Embryofetopathy	Hearing impairment, Aplasia/Hypoplasia affecting the eye, Microtia	ORPHA:1914
Oculoauriculofrontonasal Syndrome	Bifid nasal tip, Underdeveloped nasal alae, Micrognathia, Encephalocele, Cleft palate, Wide nose	ORPHA:398156
Ceroid Lipofuscinosis, Neuronal, 1	Blindness, Progressive visual loss	OMIM:256730
Kapur-Toriello Syndrome	Microphthalmia, Iris coloboma, Retinal coloboma	ORPHA:2328
Melanocytic Nevus Syndrome, Congenital	Narrow nasal ridge, Anteverted nares, Broad nasal tip, Short nose	OMIM:137550
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Wide nasal bridge, Depressed nasal ridge, Underdeveloped nasal alae, Intestinal malrotation, Micr...	ORPHA:77300
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au...	ORPHA:2549
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity	ORPHA:444013
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Melanocytic nevus, Microtia	ORPHA:1597
Zechi-Ceide Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Malar flattening, Cleft palate, Wide nose	OMIM:612916
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Downslanted palpebral fissures, Epicanthus, Ptosis, Corneal opac...	ORPHA:284160
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Microphthalmia, Lenz Type	Cataract, Microcornea, Ankyloblepharon, Optic disc coloboma, Chorioretinal coloboma, Microphthalm...	ORPHA:568
Diamond-Blackfan Anemia 8	Wide nasal bridge, Short nose	OMIM:612563
Congenital Myopathy 10A, Severe Variant	Respiratory failure, Respiratory insufficiency	OMIM:614399
Intellectual Developmental Disorder, Autosomal Dominant 67	Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha...	OMIM:619927
20P12.3 Microdeletion Syndrome	Thickened helices, Microtia	ORPHA:261295
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Anterior chamber synechiae, Uveitis	ORPHA:85410
Pontocerebellar Hypoplasia Type 10	Wide nasal bridge, Underdeveloped nasal alae	ORPHA:411493
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cataract, Optic atrophy, Abnormal optic nerve morphology, Retinopathy, Abnormality of retinal pig...	ORPHA:2526
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy...	OMIM:115310
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip	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	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Chanarin-Dorfman Syndrome	Alopecia, Microtia, Sensorineural hearing impairment	OMIM:275630
Lacrimoauriculodentodigital Syndrome	Limbal stem cell deficiency, Corneal neovascularization, Recurrent corneal erosions, Keratoconjun...	ORPHA:2363
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Recurrent otitis media, Thick eyebrow, Microtia, Posteriorly rotated ears, Synophrys	OMIM:602562
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cataract	ORPHA:85172
Pai Syndrome	Bifid uvula, Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Median cleft up...	ORPHA:1993
Retinitis Pigmentosa 50	Reduced visual acuity, Nyctalopia	OMIM:613194
Stromme Syndrome	Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Microphthalmia, Sclerocornea,...	OMIM:243605
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration	OMIM:164500
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification	OMIM:618824
Burn-Mckeown Syndrome	Bifid uvula, Choanal atresia, Bilateral choanal atresia, Underdeveloped nasal alae, Bilateral cho...	OMIM:608572
X-Linked Intellectual Disability, Van Esch Type	Male hypogonadism, Hypergonadotropic hypogonadism, Microtia	ORPHA:163976
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin	OMIM:610798
Antiphospholipid Syndrome, Familial	Keratitis, Central retinal artery occlusion, Retinal vasculitis, Retinal detachment, Iritis, Vitr...	OMIM:107320
Microcephaly-Cardiomyopathy Syndrome	Intrauterine growth retardation, Abnormality of retinal pigmentation	ORPHA:2515
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Low posterior hairl...	ORPHA:163654
Frontofacionasal Dysplasia	Cataract, Microcornea, Ankyloblepharon, Telecanthus, Absent inner eyelashes, Eyelid coloboma, Pto...	OMIM:229400
Congenital Fibrinogen Deficiency	Tachycardia, Internal hemorrhage, Developmental cataract, Microphthalmia	ORPHA:335
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Neurofibroma, Intestinal obstruction	OMIM:606764
Mcdonough Syndrome	Dental malocclusion, Underdeveloped nasal alae, Prominent nose, Micrognathia, Mandibular prognathia	ORPHA:2471
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Wide nasal bridge, Micrognathia, Underdeveloped nasal alae, Umbilical hernia	ORPHA:1516
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Short nose	ORPHA:261120
Retinitis Pigmentosa 51	High myopia, Reduced visual acuity, Nyctalopia, Photophobia, Visual impairment	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	Low-set, posteriorly rotated ears, Microtia	ORPHA:2994
Mycophenolate Mofetil Embryopathy	Atresia of the external auditory canal, Hearing impairment, Chorioretinal coloboma, Anotia, Hypop...	ORPHA:268249
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Abnormal optic nerve morphology, O...	ORPHA:79430
Isotretinoin Embryopathy-Like Syndrome	Anotia, Microtia	OMIM:243440
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Alpha-Mannosidosis	Cataract, Corneal opacity	ORPHA:61
Optic Atrophy 14	Constriction of peripheral visual field, Reduced visual acuity	OMIM:620550
Optic Atrophy 7 With Or Without Auditory Neuropathy	Dyschromatopsia, Constriction of peripheral visual field, Central scotoma, Reduced visual acuity,...	OMIM:612989
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem morphology, Abnormal thalamus morphology, Abnormal brainstem MRI signal intensity	ORPHA:88619
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, H...	OMIM:618825
Hypocalciuric Hypercalcemia, Familial, Type Ii	Peptic ulcer, Primary hyperparathyroidism, Pancreatitis, Multiple lipomas	OMIM:145981
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Pigmentary retinopathy	ORPHA:79095
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow	OMIM:617121
Incontinentia Pigmenti	Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Abnormal toenail morp...	ORPHA:464
17P13.3 Microduplication Syndrome	Short nose, Wide nose	ORPHA:217385
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
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	Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Spotty hypopigmentation,...	ORPHA:79133
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Pancreatitis, Hepatic steatosis	OMIM:619386
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N...	OMIM:245400
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Holoprosencephaly 7	Wide nasal bridge, Hypoplastic nasal septum, Alobar holoprosencephaly, Semilobar holoprosencephal...	OMIM:610828
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the scrotum, Uterine neoplasm, Neoplasm of the pancreas, Pancreatitis, Brain neoplasm...	ORPHA:370348
Optic Pathway Glioma	Visual field defect, Reduced visual acuity, Blindness, Visual loss	ORPHA:2086
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Photophobia, Reduced visual acuity, High hypermetropia	OMIM:615179
Basal Ganglia Calcification, Idiopathic, 5	Thalamic calcification	OMIM:615483
Bestrophinopathy, Autosomal Recessive	Reduced visual acuity, Hypermetropia	OMIM:611809
Usher Syndrome	Cataract, High hypermetropia, Blindness, Astigmatism, Visual field defect, Progressive visual los...	ORPHA:886
Stiff Skin Syndrome	Cataract	OMIM:184900
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Kapur-Toriello Syndrome	Microphthalmia, Cataract, Iris coloboma, Retinal coloboma	OMIM:244300
Neuromyelitis Optica Spectrum Disorder	Myelitis, Respiratory failure	ORPHA:71211
Night Blindness, Congenital Stationary, Type 1C	Myopia, Reduced visual acuity, Congenital stationary night blindness	OMIM:613216
Miller-Dieker Syndrome	Anteverted nares, Short nose	ORPHA:531
Filippi Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Serrated incisors, Intrauterine growth retardation,...	OMIM:272440
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Ventilator dependence with inability to wean, Respiratory failure, Respiratory insufficiency due ...	ORPHA:254875
Myopia 27, Autosomal Dominant	Increased axial length of the globe, High myopia	OMIM:618827
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Myelomeningocele, Abnormal eyebrow morphol...	ORPHA:3440
Albinism, Ocular, Type I	Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Ocular albinism	OMIM:300500
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Scorpion Envenomation	Miosis, Mydriasis	ORPHA:466677
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flared nostrils, Anteverted nares, Respiratory failure, Wide nasal bridge	OMIM:312170
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Short nose	ORPHA:1495
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Microtia	OMIM:620137
Night Blindness, Congenital Stationary, Type 2A	Reduced visual acuity, Visual impairment, Congenital stationary night blindness	OMIM:300071
Nabais Sa-De Vries Syndrome, Type 2	Low-set ears, Sparse eyebrow, Protruding ear, Posteriorly rotated ears, Microtia	OMIM:618829
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
Phosphoribosylaminoimidazole Carboxylase Deficiency	Depressed nasal bridge, Choanal atresia, Bilateral choanal atresia, Anteverted nares, Neonatal de...	OMIM:619859
Phace Syndrome	Retinal vascular malformation, Cataract, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens...	ORPHA:42775
Arthrogryposis Multiplex Congenita 6	Respiratory failure, Death in childhood, Death in infancy, Neonatal death	OMIM:619334
Joubert Syndrome 9	Cataract, Encephalocele, Astigmatism, Retinal dystrophy	OMIM:612285
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Ciliary Dyskinesia, Primary, 5	Nasal polyposis, Neonatal respiratory distress, Recurrent sinusitis, Chronic rhinitis, Respirator...	OMIM:608647
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Asteroid hyalosis, Retinal thinning	OMIM:132450
Humeroradial Synostosis	Small earlobe, Microtia	OMIM:236400
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Anophthalmia, Microphthalmia, Sclerocornea, Optic nerve hypoplasia	OMIM:206900
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i...	ORPHA:199306
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract	ORPHA:1345
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Retinitis Pigmentosa 23	Color vision defect, Posterior subcapsular cataract, Constriction of peripheral visual field, Mil...	OMIM:300424
Kallmann Syndrome With Spastic Paraplegia	Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic...	OMIM:308750
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Long eyelashes, Iris atrophy, Ptosis, Microphthalmia, Long eyebrows, S-shaped palp...	OMIM:201180
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Alopecia, Hypopigmentation of the skin, Corneal opacity	OMIM:163200
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Cupped ear, Ocular albinism, Hearing abnormality, Microphthalmia, Microtia	ORPHA:1352
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Treacher Collins Syndrome 3	Conductive hearing impairment, Microtia	OMIM:248390
22Q11.2 Deletion Syndrome	Cataract, Gastrointestinal hemorrhage, Hypertensive crisis, Corneal neovascularization, Posterior...	ORPHA:567
Lcat Deficiency	Corneal opacity	ORPHA:650
Acromicric Dysplasia	Bulbous nose, Anteverted nares, Short nose	ORPHA:969
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology	OMIM:606353
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Retinal coloboma, Facial hirsutism, Iris coloboma, Abnormal pinna morph...	ORPHA:2839
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord	ORPHA:35689
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411511
Seckel Syndrome 7	Primary amenorrhea, Microtia	OMIM:614851
Mevalonic Aciduria	Cataract	ORPHA:29
Systemic Capillary Leak Syndrome	Myocarditis, Pancreatitis, Multiple myeloma, Pericarditis	ORPHA:188
3P25.3 Microdeletion Syndrome	Depressed nasal bridge, Abnormal thalamus morphology, Prominent nose, Anteverted nares, Microphth...	ORPHA:435638
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Short palpebral fissure, Peters anomaly, Downslanted palpebral fissures, ...	OMIM:612582
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Thalamic calcification	OMIM:618317
Myopathy, Distal, 7, Adult-Onset, X-Linked	Cataract	OMIM:301075
5Q14.3 Microdeletion Syndrome	Anteverted nares, Short nose, Optic nerve hypoplasia	ORPHA:228384
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Low-set ears, Highly arched eyebrow, Long eyelashes, Low anterior hairline, Protruding ear, Colob...	ORPHA:329224
Verheij Syndrome	Intrauterine growth retardation, Coloboma, Branchial cyst, Optic nerve hypoplasia	OMIM:615583
Retinitis Pigmentosa 71	Nyctalopia	OMIM:616394
Trisomy 1Q	Depressed nasal bridge, Microretrognathia, Anophthalmia, Anal atresia, Cleft palate, Wide nose	ORPHA:261344
Autosomal Recessive Stickler Syndrome	Cataract, Retinal detachment, Vitreoretinopathy, Astigmatism	ORPHA:250984
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Neonatal death, Short nose	OMIM:610015
Vacterl With Hydrocephalus	Microcornea, Abnormal optic nerve morphology, Anophthalmia, Microphthalmia	ORPHA:3412
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Underdeveloped nasal alae, Cleft palate	OMIM:601355
Orofaciodigital Syndrome Xv	Wide nasal bridge, Anteverted nares, Molar tooth sign on MRI	OMIM:617127
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Congenital Sialidosis Type 2	Cataract, Optic atrophy, Cherry red spot of the macula, Hypoplasia of the fovea, Yellow/white les...	ORPHA:93400
Cerebrooculonasal Syndrome	Narrow palate, Downturned corners of mouth, Long philtrum, Encephalocele, Anophthalmia, Solitary ...	OMIM:605627
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Anosmia, Decreased serum testosterone concentration, Decreased testicular size, Hypothalamic gona...	OMIM:308700
Baralle-Macken Syndrome	Cataract, Cafe-au-lait spot, Hirsutism	OMIM:619255
Trichothiodystrophy 3, Photosensitive	Cataract, Trichorrhexis nodosa, Intrauterine growth retardation, Tiger tail banding, Developmenta...	OMIM:616395
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Optic atrophy, Intrauterine growth retardation, Hydrocephalus, Retinal dysplasia	ORPHA:272
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Kayser-Fleischer ring, Acute ...	ORPHA:905
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Proximal 16P11.2 Microduplication Syndrome	Sparse eyelashes, Abnormality of the hairline, Sparse eyebrow, Microtia	ORPHA:370079
Nephronophthisis 15	Blindness	OMIM:614845
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Pancreatitis, Parathyroid adenoma	OMIM:145980
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Wide nasal bridge, Optic disc hypoplasia, Hypoplasia of the brainstem, Fusion of the left and rig...	OMIM:619306
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Autoimmune Polyendocrinopathy Type 1	Cataract, Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Opacification of ...	ORPHA:3453
Linear Skin Defects With Multiple Congenital Anomalies 2	Myopia, Visual impairment, Microphthalmia	OMIM:300887
Nevus Comedonicus Syndrome	Abnormal hair morphology, Cataract, Spina bifida occulta, Spina bifida	ORPHA:64754
Frontorhiny	Cataract, Cranium bifidum occultum, Encephalocele, Basal encephalocele, Microphthalmia, Iris colo...	ORPHA:391474
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Developmental cataract, Microphthalmia	OMIM:127000
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia, Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteiniz...	OMIM:614842
Usher Syndrome, Type 1M	Nyctalopia	OMIM:618632
Cockayne Syndrome Type 1	Cataract, Optic atrophy, Pigmentary retinopathy, Anophthalmia, Conjunctivitis, Uveitis	ORPHA:90321
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Abnormal hair pattern, Atresia of the external auditory canal,...	ORPHA:1770
Cohen Syndrome	Optic atrophy, Downslanted palpebral fissures, Long eyelashes, Thick eyebrow, Abnormality of reti...	ORPHA:193
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Bitot spots of the conjunctiva, Nyctalopia	OMIM:277350
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Retinitis Pigmentosa 93	Constriction of peripheral visual field, Reduced visual acuity	OMIM:619845
Cone-Rod Dystrophy 18	Reduced visual acuity, High myopia, Central scotoma	OMIM:615374
Peho-Like Syndrome	Short nose	OMIM:617507
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased cir...	OMIM:614839
Craniosynostosis, Herrmann-Opitz Type	Abnormal antihelix morphology, Microtia	ORPHA:2145
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Lens subluxation, Hypopigmentation of the skin, Ectopia lentis, Brittle hair	OMIM:236200
Blepharophimosis, Ptosis, And Epicanthus Inversus	Highly arched eyebrow, Microcornea, Telecanthus, Ptosis, Blepharophimosis, Narrow palpebral fissu...	OMIM:110100
Edinburgh Malformation Syndrome	Choanal atresia, Anteverted nares, Aplasia/Hypoplasia affecting the eye, Short nose	ORPHA:1895
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cervical myelopathy, Cataract, Attenuation of retinal blood vessels, Retinal degeneration, Macula...	OMIM:619260
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Horizontal eyebrow, Hearing impairment, Long eyelashes, Broad eyebrow, Overfolded helix, Synophry...	OMIM:620475
Congenital Neuronal Ceroid Lipofuscinosis	Wide nasal bridge, Neonatal respiratory distress, Respiratory failure	ORPHA:168486
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Corneal opacity	OMIM:620469
Fanconi Anemia	Cataract, Irregular hyperpigmentation, Hypopigmented skin patches, Umbilical hernia, Intrauterine...	ORPHA:84
Hyperekplexia 4	Respiratory failure	OMIM:618011
Musk, Inability To Smell	Blindness	OMIM:254150
Immunodeficiency 54	Adrenocorticotropic hormone excess, Respiratory failure, Respiratory insufficiency	OMIM:609981
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Abnormal pupillary light reflex, Anisocoria, Abnormal optic nerve morphology	ORPHA:99949
Zimmermann-Laband Syndrome 2	Bifid nasal tip, Macroglossia, Prominent nasal septum, Underdeveloped nasal alae	OMIM:616455
Baker-Gordon Syndrome	Prominent nasal tip, Short nose	OMIM:618218
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia...	ORPHA:91500
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Generalized hirsutism, Abnormal eyebrow morphology, Irregular hyperpigmentation, Generalized hypo...	ORPHA:1816
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Dyschromatopsia, Centrocecal scotoma, Central scotoma, Reduced visual acuity, Red-green dyschroma...	OMIM:125250
Narp Syndrome	Constriction of peripheral visual field, Blindness, Abnormal visual field test	ORPHA:644
Holoprosencephaly	Choanal atresia, Depressed nasal ridge, Anosmia, Spinal dysraphism, Aplasia/Hypoplasia involving ...	ORPHA:2162
Amyloidosis, Finnish Type	Cataract, Optic neuropathy, Orthostatic hypotension, Lattice corneal dystrophy	OMIM:105120
Cronkhite-Canada Syndrome	Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, General...	ORPHA:2930
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Low hanging columella, Short nose	OMIM:617752
Histiocytoid Cardiomyopathy	Optic atrophy, Megalocornea, Congenital aphakia, Corneal opacity, Hydrocephalus, Microphthalmia	ORPHA:137675
Menkes Disease	Alopecia, Hypopigmentation of the skin, Intrauterine growth retardation, Death in childhood, Brit...	OMIM:309400
Frontonasal Dysplasia 2	Conical tooth, Widely spaced teeth, Tessier number 13 facial cleft, Encephalocele, Microphthalmia...	OMIM:613451
Leigh Syndrome, Nuclear	Respiratory insufficiency, Respiratory failure, Focal substantia nigra T2 hyperintensity	OMIM:256000
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Fanconi Anemia, Complementation Group S	Dental malocclusion, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Microph...	OMIM:617883
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Intrauterine growth retardation, Hypopigmentation of the skin, Aplasia/Hypoplasia of...	ORPHA:261304
Pontocerebellar Hypoplasia, Type 11	Coloboma, Macrotia	OMIM:617695
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Acro-Renal-Ocular Syndrome	Cataract, Microcornea, Short palpebral fissure, Optic disc hypoplasia, Optic disc coloboma, Chori...	ORPHA:959
Retinitis Pigmentosa 59	Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:613861
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Verloove Vanhorick-Brubakk Syndrome	Low-set ears, Atresia of the external auditory canal, Microtia	ORPHA:3429
Alpha-Mannosidosis, Adult Form	Cataract, Corneal opacity	ORPHA:309288
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Low-set ears, Microtia	ORPHA:171839
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Synophrys, Hirsutism, Microtia	OMIM:616977
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Blindness	ORPHA:3137
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Hearing impairment, Fine hair, Long eyelashes, Microtia, Macrotia, Synophrys	OMIM:620250
Acute Radiation Syndrome	Cataract, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Low-set ears, Hearing impairment, Microtia	OMIM:619056
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myopic astigmatism, Frequent temper tantrums, Facial telangiectasia, Aggressive behavior, Attenti...	OMIM:620141
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Hearing impairment, Microtia	OMIM:616006
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Conjunctivitis, Keratitis, Corneal dystrophy	OMIM:308800
Distal Deletion 9P	Aplasia/Hypoplasia of the earlobes, Abnormal helix morphology, Low-set, posteriorly rotated ears,...	ORPHA:1642
Keppen-Lubinsky Syndrome	Abnormally large globe, Underdeveloped nasal alae, Narrow naris, Narrow nasal bridge, Prominent n...	ORPHA:435628
Chediak-Higashi Syndrome	Iris hypopigmentation, Silver-gray hair, Hypopigmentation of the skin, Ocular albinism, Macular h...	OMIM:214500
Scalp-Ear-Nipple Syndrome	Low-set ears, Iris coloboma, Sparse pubic hair, Cupped ear, Fine hair, Breast aplasia, Underdevel...	OMIM:181270
Leukodystrophy, Hypomyelinating, 24	Cataract	OMIM:619851
Buratti-Harel Syndrome	Low-set ears, Small nail, Sparse medial eyebrow, Posteriorly rotated ears, Microtia	OMIM:619314
Nager Syndrome	Atresia of the external auditory canal, Hearing impairment, Low-set, posteriorly rotated ears, Ap...	ORPHA:245
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Cranium bifidum occultum, Cleft palate, Microphthalmia	ORPHA:306542
Myopia 22, Autosomal Dominant	Reduced visual acuity, High myopia	OMIM:615420
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Abnormally large globe, Underdeveloped nasal alae, Narrow naris	OMIM:614098
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Underdeveloped nasal alae, Intrauterine growth retardation, Micrognathia, Cl...	ORPHA:2516
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Short nose	OMIM:618506
Hartsfield Syndrome	Intrauterine growth retardation, Encephalocele, Lobar holoprosencephaly, Microphthalmia	ORPHA:2117
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Intrauterine growth retardation, Anteverted na...	ORPHA:228390
Laurence-Moon Syndrome	Cataract, Iris coloboma	ORPHA:2377
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Hearing impairment, Aplasia/Hypoplasia affecting the eye, Micr...	ORPHA:1926
Scheie Syndrome	Aortic valve stenosis, Aortic regurgitation, Mitral stenosis, Corneal opacity	OMIM:607016
Spinocerebellar Ataxia, Autosomal Recessive 3	Blindness	OMIM:271250
Simosa Craniofacial Syndrome	High, narrow palate, Wide nasal bridge, Underdeveloped nasal alae, Depressed nasal tip, Malar fla...	OMIM:182150
Thoracic Dysplasia-Hydrocephalus Syndrome	Depressed nasal ridge, Communicating hydrocephalus, Respiratory failure	ORPHA:1861
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormality of the outer ear, Hearing impairment, Recurrent otitis media, Microphthalmia, Microtia	ORPHA:2728
Diprosopus	Anencephaly, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1681
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose	ORPHA:1514
Joubert Syndrome 20	Molar tooth sign on MRI, Respiratory insufficiency	OMIM:614970
Al-Gazali Syndrome	Sclerocornea, Corneal opacity	OMIM:609465
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Delayed Puberty, Self-Limited	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre...	OMIM:619613
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Infantile Spasms-Broad Thumbs Syndrome	Cataract	ORPHA:3173
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Short nose	ORPHA:2835
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Ocular albinism, Choroideremia, Corneal opacity, Aplasia/Hypopla...	ORPHA:2719
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Posterior polar cataract, Optic disc hypoplasia	ORPHA:261584
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Cataract, Retinal detachment, Microphthalmia, Retinal dysplasia	OMIM:253800
Cone-Rod Dystrophy 6	Dyschromatopsia, Peripheral visual field loss, Progressive night blindness, Reduced visual acuity...	OMIM:601777
X-Linked Intellectual Disability, Najm Type	Cataract, Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia	ORPHA:163937
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neonatal death	OMIM:257100
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose	ORPHA:2598
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Sialidosis Type 1	Cherry red spot of the macula, Cataract, Retinopathy, Corneal opacity	ORPHA:812
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Hepatosplenomegaly, Sple...	OMIM:618935
Sweeney-Cox Syndrome	Low-set ears, Crumpled ear, Cupped ear, Hearing impairment, Small nail, Low anterior hairline, Ge...	OMIM:617746
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Retinal detachment	ORPHA:1556
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of the upper lip, 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
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria	OMIM:615510
Immunoneurologic Disorder, X-Linked	Nyctalopia	OMIM:300076
Rhombencephalosynapsis	Fusion of the left and right thalami, Anteverted nares, Hydrocephalus, Septo-optic dysplasia, Sho...	ORPHA:59315
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Depressed nasal ridge, Death in infancy, Short nose, Microphthalmia	ORPHA:163966
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose	ORPHA:2429
Joubert Syndrome 21	Occipital encephalocele, Hypoplasia of the brainstem, Anophthalmia, Encephalocele, Elongated supe...	OMIM:615636
Cerebrooculofacioskeletal Syndrome 1	Cataract, Blepharophimosis, Microphthalmia	OMIM:214150
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Wide nasal bridge, High palate, Anteverted nares, Underdeveloped nasal alae	OMIM:616158
Severe Canavan Disease	Blindness	ORPHA:314911
Braddock-Carey Syndrome 2	Atresia of the external auditory canal, Hearing impairment, Microphthalmia	OMIM:619981
Estrogen Resistance	Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar...	OMIM:615363
Infantile Refsum Disease	Cataract, Constriction of peripheral visual field, Visual impairment, Nyctalopia	ORPHA:772
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Cataract, Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia	OMIM:615704
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract	OMIM:201470
Jacobsen Syndrome	Optic atrophy, Microcornea, Chorioretinal coloboma, Telecanthus, Eyelid coloboma, Macular hypopla...	OMIM:147791
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Dental malocclusion, Broad columella, Underdeveloped nasal alae, Micrognathia, Malar flattening	ORPHA:436245
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Splenomegaly	ORPHA:79312
Trisomy 18P	High, narrow palate, Wide nasal bridge, Underdeveloped nasal alae, Intrauterine growth retardatio...	ORPHA:1715
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Low-set ears, Coloboma, Macrotia	OMIM:616789
Non-24-Hour Sleep-Wake Syndrome	Blindness	ORPHA:73267
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Blindness, Microphthalmia	OMIM:617914
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Acitretin/Etretinate Embryopathy	Bilateral sensorineural hearing impairment, Cupped ear, Aplasia/Hypoplasia of the optic nerve, Mi...	ORPHA:40366
Postsynaptic Congenital Myasthenic Syndromes	Decreased miniature endplate potentials, Fatigable weakness of respiratory muscles, Respiratory f...	ORPHA:98913
Mohr-Tranebjaerg Syndrome	Constriction of peripheral visual field, Reduced visual acuity, Cerebral visual impairment, Myopi...	OMIM:304700
Neuroocular Syndrome 1	Cataract, Microcornea, Stellate iris, Peters anomaly, Small nail, Highly arched eyebrow, Umbilica...	OMIM:619539
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Cerulean cataract, Anterior cortical cataract, Blindnes...	ORPHA:67036
Infantile Neuronal Ceroid Lipofuscinosis	Progressive visual field defects, Blindness, Visual loss	ORPHA:79263
Muscle-Eye-Brain Disease	Cataract, Optic atrophy, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Chromosome 1Q41-Q42 Deletion Syndrome	Low-set ears, Sparse eyebrow, Small nail, Supernumerary nipple, Microphthalmia, Microtia	OMIM:612530
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis	ORPHA:289916
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Holoprosencephaly 9	Choanal atresia, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Br...	OMIM:610829
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Arrhythmia, Microphthalmia, Conjunctivitis, Corneal ulceration	OMIM:153400
Cardiofaciocutaneous Syndrome 4	Cataract, Multiple lentigines, Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, S...	OMIM:615280
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Short nose, Optic nerve hypoplasia	OMIM:618828
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Visual loss	OMIM:615085
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Orofaciodigital Syndrome Xix	Wide nasal bridge, Bifid nasal tip, Carious teeth, Retrognathia, Underdeveloped nasal alae, Thick...	OMIM:620107
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan...	ORPHA:31205
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, Pigmentary retinopathy, Ptosis	OMIM:252011
Fraser Syndrome 1	Tessier cleft, Dental malocclusion, Dental crowding, Bilateral microphthalmos, Cleft upper lip, M...	OMIM:219000
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft upper lip, Microphthalmia, Anencephaly, Cleft palate	OMIM:611561
Tyrosinemia, Type Ii	Herpetiform corneal ulceration	OMIM:276600
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Retinopathy, Hyperpigmentation of the skin	ORPHA:158029
Congenital Disorder Of Deglycosylation 2	Highly arched eyebrow, Hearing impairment, Retinal coloboma, Cleft earlobe, Microtia	OMIM:619775
Pancreatic Agenesis 1	Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop...	OMIM:260370
Ritscher-Schinzel Syndrome 1	Low posterior hairline, Intrauterine growth retardation, Coloboma, Hydrocephalus	OMIM:220210
Bartsocas-Papas Syndrome 1	Tessier cleft, Anal stenosis, Cleft upper lip, Oral synechia, Microphthalmia, Anal atresia, Cleft...	OMIM:263650
Weill-Marchesani Syndrome 1	Cataract, Microspherophakia, Ectopia lentis, High myopia, Blindness, Shallow anterior chamber	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	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613266
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Death in infancy	OMIM:618240
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Achondrogenesis Type 2	Lens subluxation, Cataract, Abnormal vitreous humor morphology, Retinal detachment	ORPHA:93296
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Inguinal freckling, Neurofibroma, Bilateral vestibular ...	OMIM:101000
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Cone-Rod Dystrophy 8	Photophobia, Blindness, Peripheral visual field loss, Nyctalopia	OMIM:605549
Retinitis Pigmentosa 49	Reduced visual acuity, Peripheral visual field loss, Nyctalopia	OMIM:613756
Stickler Syndrome Type 1	Cataract, Abnormal vitreous humor morphology, Retinal detachment	ORPHA:90653
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Optic atrophy, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Retinal at...	OMIM:253280
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Anosmia, Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogonadotr...	OMIM:614837
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Motor neuron atrophy, Fatigable weakness of bulbar muscles, Fatiga...	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	Crumpled ear, Cupped ear, Hearing impairment, Small nail, Frontal upsweep of hair, Hypoplastic to...	OMIM:620494
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Anteverted nares, Short nose	OMIM:618577
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Cach Syndrome	Optic neuritis, Hepatosplenomegaly, Pancreatitis	ORPHA:135
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Short nose, Microphthalmia	OMIM:300863
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Blepharophimosis, ...	OMIM:156610
Ohdo Syndrome	Stenosis of the external auditory canal, Sparse eyebrow, Hearing impairment, Microtia	OMIM:249620
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Short nose	OMIM:616910
Odontotrichoungual-Digital-Palmar Syndrome	Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy	OMIM:601957
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy, Ptosis	OMIM:619473
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ...	OMIM:615710
Japanese Encephalitis	Abnormal midbrain morphology, Abnormal thalamus morphology, Abnormal substantia nigra morphology,...	ORPHA:79139
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia, Abnormality of retinal pigmentation, Abnormal vitreous humor morpho...	ORPHA:2556
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas	ORPHA:1203
Night Blindness, Congenital Stationary, Type 1B	Myopia, Hemeralopia, Nyctalopia, Congenital stationary night blindness	OMIM:257270
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Developmental cataract	ORPHA:436174
Congenital Disorder Of Glycosylation, Type Iu	Death in infancy, Short nose	OMIM:615042
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Pigmentary retinopathy, Alopecia, Alopecia universalis, Vitiligo, Nail dystrophy, Kerat...	OMIM:240300
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Blindness	OMIM:614514
Hepatic Lipase Deficiency	Corneal arcus	OMIM:614025
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion	OMIM:614878
Carney-Stratakis Syndrome	Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction	ORPHA:97286
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Short nose, Wide nose	ORPHA:2831
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Abnormality of retinal pigmentation	ORPHA:397951
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio...	OMIM:113650
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Alopecia, Sparse eyebrow, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplasia, ...	OMIM:612843
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure	OMIM:616867
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Astigmatism, Microphthalmia	OMIM:609053
Saethre-Chotzen Syndrome	Low-set ears, Conductive hearing impairment, Hearing impairment, Prominent crus of helix, Narrow ...	ORPHA:794
Primary Non-Essential Cutis Verticis Gyrata	Reduced visual acuity, Developmental cataract	ORPHA:357225
19P13.3 Microduplication Syndrome	Low-set ears, Posteriorly rotated ears, Microtia	ORPHA:447980
Trisomy 18	Cataract, Microcornea, Intrauterine growth retardation, Abnormality of retinal pigmentation, Abno...	ORPHA:3380
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis	OMIM:608600
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Bulbous nose, High palate, Micrognathia, Underdeveloped nasal alae	OMIM:616549
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Joubert Syndrome 37	Wide nasal bridge, Anteverted nares, Molar tooth sign on MRI, Microphthalmia, Wide nose	OMIM:619185
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Sparse eyebrow, Downslanted palpebral fissures, Sparse eyelashes, Micropht...	ORPHA:35173
Hyperparathyroidism-Jaw Tumor Syndrome	Peptic ulcer, Renal hamartoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Nephroblastoma, Prim...	ORPHA:99880
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract, Blindness	ORPHA:79107
Monosomy 18P	Alopecia, Abnormal antihelix morphology, Protruding ear, Low posterior hairline, Microphthalmia, ...	ORPHA:1598
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Stenosis of the external audit...	ORPHA:2878
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Abnormal...	OMIM:229070
Linear Nevus Sebaceus Syndrome	Alopecia, Irregular hyperpigmentation, Melanocytic nevus, Microphthalmia, Iris coloboma	ORPHA:2612
Cone-Rod Dystrophy 19	Reduced visual acuity, High myopia	OMIM:615860
Hermansky-Pudlak Syndrome 6	Albinism, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Macular hypoplasia, Ir...	OMIM:614075
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Low-set ears, Cafe-au-lait spot, Posteriorly rotated ears, Microtia	OMIM:618336
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98794
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
Atelis Syndrome 2	Short palpebral fissure, Dacryocystocele, Epicanthus, Vitreous hemorrhage, Developmental cataract...	OMIM:620185
Lacrimoauriculodentodigital Syndrome 3	Absent eyelashes, Cupped ear, Hearing impairment, Microtia	OMIM:620193
Ring Chromosome 10 Syndrome	Low-set ears, Large earlobe, Abnormal antihelix morphology, Microphthalmia	ORPHA:1438
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus, Miscarriage	ORPHA:1947
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Intrauterine growth retardation, Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-...	OMIM:618541
Hemochromatosis, Type 4	Cataract, Hyperpigmentation of the skin	OMIM:606069
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec...	OMIM:620651
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose	OMIM:614069
Odontochondrodysplasia	Depressed nasal bridge, Death in infancy, Short nose	ORPHA:166272
Rhizomelic Chondrodysplasia Punctata	Spina bifida occulta, Cataract, Alopecia, Sparse body hair	ORPHA:177
15Q24 Microdeletion Syndrome	Myelomeningocele, Broad eyebrow, High anterior hairline, Coloboma	ORPHA:94065
Trigonocephaly 1	Wide nasal bridge, Short nose	OMIM:190440
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:613443
Marsili Syndrome	Corneal scarring	OMIM:147430
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Blepharonasofacial Malformation Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Cleft palate, Wide nose	ORPHA:1252
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, Respiratory insufficiency	OMIM:615330
Tetraploidy	Hypoplasia of the ear cartilage, Aplasia/Hypoplasia affecting the eye	ORPHA:3305
Lichen Planus Pemphigoides	Conjunctivitis, Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Hypergonadotropic hypogonadism, Microtia	OMIM:212112
Angelman Syndrome	Iris hypopigmentation, Keratoconus, Optic atrophy, Hypopigmentation of the skin, Fair hair, Astig...	ORPHA:72
Juvenile Sialidosis Type 2	Cataract, Corneal opacity	ORPHA:93399
Anonychia With Flexural Pigmentation	Anonychia, Axillary and groin hyperpigmentation and hypopigmentation	OMIM:106750
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology	OMIM:215470
Zellweger Syndrome	Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots, Abnormal chorioretinal morpho...	ORPHA:912
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma	OMIM:309801
Lichen Planopilaris	Alopecia, Hypopigmented skin patches, Pterygium, Abnormal fingernail morphology, Onycholysis	ORPHA:525
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Short nose	OMIM:300558
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Microtia	OMIM:619817
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Acute Disseminated Encephalomyelitis	Myelitis, Abnormal spinal cord morphology, Abnormal brainstem MRI signal intensity, Abnormal thal...	ORPHA:83597
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Monosomy 13Q14	Cataract, Retinoblastoma, Epicanthus, Ptosis, Microphthalmia, Iris coloboma	ORPHA:1587
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Short nose	OMIM:615716
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Ventilator dependence with inability to wean, Respiratory failure, Degeneration of anterior horn ...	OMIM:604320
Parathyroid Carcinoma	Peptic ulcer, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Thyroid carcinom...	ORPHA:143
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Cebalid Syndrome	Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Short nose	OMIM:618774
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Xeroderma Pigmentosum, Complementation Group C	Conjunctivitis, Hypopigmentation of the skin, Keratitis, Freckling	OMIM:278720
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Death in infancy, Chorioretinal coloboma, Microphthalmia	OMIM:619135
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microcornea, Pulmonary arterial hypertension, Microphthalmia	OMIM:616449
Intellectual Developmental Disorder, Autosomal Dominant 70	Cataract, Highly arched eyebrow, Retinal detachment, Hydrocephalus, Retinal telangiectasia, Optic...	OMIM:620157
Ohdo Syndrome, X-Linked	Low-set ears, Sparse eyebrow, High anterior hairline, Hearing impairment, Stenosis of the externa...	OMIM:300895
Cutis Laxa, Autosomal Dominant 3	Developmental cataract, Corneal opacity	OMIM:616603
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Hypoplasia of the ear cartilage	ORPHA:1035
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
Distal Xq28 Microduplication Syndrome	Aplasia/Hypoplasia of the eyebrow, Microtia, Cafe-au-lait spot, Absent antihelix	ORPHA:293939
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microglossia, Underdeveloped nasal alae, Cleft mandible, Short nose, Intrauterine growth retardat...	ORPHA:364577
Ifap Syndrome 2	Cataract, Keratoconjunctivitis sicca, Keratitis	OMIM:619016
Maternal Uniparental Disomy Of Chromosome X	Low posterior hairline, Hypopigmentation of the skin	ORPHA:261519
Plague	Conjunctival hyperemia, Mydriasis	ORPHA:707
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa...	ORPHA:64744
Behr Syndrome	Visual impairment, Progressive visual loss, Blindness	OMIM:210000
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Short nose, Prominent nasal bridge	OMIM:613544
Vici Syndrome	Cataract, Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism, Macular ...	OMIM:242840
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Astigmatism, Hyperpigmentation of the skin	ORPHA:35125
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Absent nares, Aplasia/Hypoplasia involving the nose, Mandibular aplasia	ORPHA:990
Microphthalmia, Syndromic 9	Wide nasal bridge, Anophthalmia, Bilateral microphthalmos, Neonatal death	OMIM:601186
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Bulbous nose, Short nose	OMIM:620292
Panhypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95513
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic disc hypoplasia, Visual field defect, Reduced visual acuity, Amblyopia, Hyperm...	ORPHA:401777
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory failure	OMIM:263000
Mast Cell Sarcoma	Hypoplasia of the ear cartilage	ORPHA:66661
Hypercholesterolemia, Familial, 3	Corneal arcus	OMIM:603776
Femoral-Facial Syndrome	Low-set ears, Microtia	ORPHA:1988
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Uveitis, Hepatitis, Cholestasis, Hepatosplenomegaly, Portal hyp...	ORPHA:171
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Progressive visual loss, Visual impairment, Visual loss, Blindness	OMIM:601338
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Short nose	OMIM:619736
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Intrauterine growth...	OMIM:615866
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Cataract, Ectopia lentis, Abnormality of retinal pigmentation, Retinal detachment	ORPHA:394
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
Contractures-Developmental Delay-Pierre Robin Syndrome	Overfolded helix, Iris coloboma, Lop ear, Microtia	ORPHA:436003
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion, Death in infancy	OMIM:619046
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Short nose	OMIM:619854
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, Bilateral ptosis	ORPHA:329336
Spinocerebellar Ataxia Type 1	Abnormal brainstem morphology, Respiratory failure, Atrophy/Degeneration affecting the brainstem	ORPHA:98755
Werner Syndrome	Cataract, Abnormal hair whorl, Premature graying of hair, White forelock, Abnormality of retinal ...	ORPHA:902
Wolf-Hirschhorn Syndrome	Highly arched eyebrow, Ectopia pupillae, Hyperconvex fingernails, Intrauterine growth retardation...	OMIM:194190
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Optic atrophy, Rod-cone dystrophy, Subcapsular cataract	OMIM:612674
Chung-Jansen Syndrome	Anteverted nares, Short nose	OMIM:617991
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Corneal neovascularization, Recurrent corneal erosions, Opacification of the corneal s...	OMIM:308205
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Distichiasis, Abnormal...	ORPHA:1807
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Low-set ears, Highly arched eyebrow, Hearing impairment, Aplasia/Hypoplasia of the external ear, ...	ORPHA:505237
Hypercholesterolemia, Familial, 1	Corneal arcus	OMIM:143890
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop...	ORPHA:69087
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Bulbous nose, Anteverted nares, Short nose	OMIM:613604
Bazex-Dupre-Christol Syndrome	Furrowed tongue, Low hanging columella, Narrow nasal ridge, Underdeveloped nasal alae	OMIM:301845
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood, Atrophy/Degeneration affecting the brainstem	OMIM:615838
Cree Impaired Intellectual Development Syndrome	Low-set ears, Coloboma, Posteriorly rotated ears	OMIM:606851
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Intrauterine growth retardation, Micrognathia, Prominent nasal bridge,...	ORPHA:2083
Duane-Radial Ray Syndrome	Cataract, Optic disc hypoplasia, Retinal coloboma, Aganglionic megacolon, Epicanthus, Palpebral f...	OMIM:607323
Stickler Syndrome, Type Iv	Cataract, Astigmatism, Chorioretinal degeneration, Rhegmatogenous retinal detachment, Degenerativ...	OMIM:614134
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio...	ORPHA:158681
Dermotrichic Syndrome	Depressed nasal bridge, Short nose	ORPHA:99688
Adenohypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95512
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Keratitis, Corneal scarring, Blindness, Recurrent corneal erosions, Keratoconjunctivitis sicca, P...	OMIM:148210
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis	ORPHA:27
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor...	OMIM:256800
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Unilateral microphthalmos, Alopecia of scalp, Sparse eyelashes, Iris coloboma, Ca...	OMIM:618874
Joubert Syndrome 3	Highly arched eyebrow, Pigmentary retinopathy, Epicanthus, Ptosis, Retinal dystrophy	OMIM:608629
2Q31.1 Microdeletion Syndrome	Optic disc coloboma, Abnormal hair morphology, Hypoplastic toenails, Low anterior hairline, Colob...	ORPHA:251014
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Lacrimoauriculodentodigital Syndrome 2	Cupped ear, Hearing impairment, Microtia	OMIM:620192
Autosomal Recessive Spastic Paraplegia Type 15	Yellow/white lesions of the retina, Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal...	ORPHA:100996
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Nyctalopia	ORPHA:436274
Cataract 49	Posterior cortical cataract, Reduced visual acuity	OMIM:619593
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Insulin-Resistance Syndrome Type B	Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu...	ORPHA:2298
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia...	OMIM:619326
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose	ORPHA:1389
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal hypoplasia	OMIM:202150
Freeman-Sheldon Syndrome	Wide nasal bridge, Depressed nasal ridge, Underdeveloped nasal alae	ORPHA:2053
Al Amyloidosis	Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system...	ORPHA:85443
Snakebite Envenomation	Hypopituitarism, Epistaxis, Respiratory failure	ORPHA:449285
Sanjad-Sakati Syndrome	Astigmatism, Aplasia/Hypoplasia affecting the eye, Corneal opacity	ORPHA:2323
Peroxisome Biogenesis Disorder 4A (Zellweger)	Depressed nasal bridge, Respiratory failure, Death in infancy	OMIM:614862
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Congenital blindness	ORPHA:436182
Schilbach-Rott Syndrome	Posteriorly rotated ears, Microtia	OMIM:164220
Intellectual Developmental Disorder, Autosomal Recessive 5	Wide nasal bridge, Prominent nose, Prominent nasal bridge, Underdeveloped nasal alae	OMIM:611091
Acromelic Frontonasal Dysostosis	Cleft upper lip, Encephalocele, Submucous cleft soft palate, Midline facial cleft, U-Shaped upper...	OMIM:603671
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon	OMIM:601374
Marcus-Gunn Syndrome	Coloboma, Abnormality of the sense of smell	ORPHA:91412
Harrod Syndrome	Cataract, Intrauterine growth retardation, Hypopigmented skin patches	ORPHA:2115
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614744
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Bulbous nose, Anteverted nares, Respiratory failure	OMIM:616505
Mitochondrial Complex I Deficiency, Nuclear Type 4	Blindness	OMIM:618225
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Large earlobe, Microphthalmia	OMIM:602501
Microscopic Polyangiitis	Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art...	ORPHA:727
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Respiratory failure	ORPHA:2759
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Coffin-Lowry Syndrome	Cataract, Optic atrophy, Downslanted palpebral fissures, Abnormality of retinal pigmentation, Epi...	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, Underdeveloped tragus, Abnormal fingernail morphology, Underdeveloped antitragus,...	ORPHA:2036
Coach Syndrome 1	Optic disc pallor, Coloboma, Occipital encephalocele, Encephalocele	OMIM:216360
Neuropathy, Congenital Hypomyelinating, 3	Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:618186
Fibular Hemimelia	Abnormal anterior chamber morphology, Anophthalmia	ORPHA:93323
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Lip pit, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1072
Isolated Congenital Alacrima	Conjunctivitis, Keratitis, Corneal erosion, Lacrimal gland hypoplasia	ORPHA:91416
Intellectual Developmental Disorder, Autosomal Dominant 1	Low-set ears, Highly arched eyebrow, Cupped ear, Long eyelashes, Thick eyebrow, Protruding ear, L...	OMIM:156200
Distal Duplication 18Q	Choanal atresia, Anteverted nares, Prominent nasal bridge, Short nose	ORPHA:1716
Eales Disease	Rubeosis iridis, Blindness, Vitreous floaters, Reduced visual acuity, Photopsia	ORPHA:40923
Mandibulofacial Dysostosis, Guion-Almeida Type	Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Overfolded h...	OMIM:610536
Auriculocondylar Syndrome	Abnormality of the crus of the helix, Hearing impairment, Question mark ear, Aplasia/Hypoplasia o...	ORPHA:137888
Joubert Syndrome 35	Depressed nasal bridge, Elongated superior cerebellar peduncle, Anteverted nares, Molar tooth sig...	OMIM:618161
Juvenile Paget Disease	Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation	ORPHA:2801
Ring Chromosome 12 Syndrome	Low-set ears, Dystrophic toenail, Breast hypoplasia, Hirsutism, Microtia	ORPHA:1439
Cone-Rod Dystrophy 10	Photophobia, Peripheral visual field loss, Progressive visual loss, Nyctalopia	OMIM:610283
Joubert Syndrome 4	Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ...	OMIM:609583
Meckel Syndrome, Type 2	Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Weill-Marchesani Syndrome 2	Cataract, Microspherophakia, Ectopia lentis, High myopia, Blindness, Astigmatism, Iridodonesis, S...	OMIM:608328
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Hydrocephalus, Microphthalmia, Meningocele, Anenc...	OMIM:611134
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteom...	ORPHA:2552
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Bulbous nose, Prominent nasal bridge, Short nose	OMIM:613870
Bardet-Biedl Syndrome 4	Nyctalopia	OMIM:615982
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Depressed nasal bridge, Anteverted nares, Death in childhood, Death in infancy, Short nose, Wide ...	OMIM:613320
Pseudopseudohypoparathyroidism	Cataract	OMIM:612463
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Short nose	OMIM:615419
Hypercholesterolemia, Familial, 2	Corneal arcus	OMIM:144010
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Low-set ears, Small nail, Breast hypoplasia, Nail dysplasia, Oligozoospermia, Sparse hair, Poster...	OMIM:614813
Cystic Fibrosis	Recurrent pneumonia, Bronchiectasis, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepato...	OMIM:219700
Meckel Syndrome 13	Occipital encephalocele, Molar tooth sign on MRI	OMIM:617562
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Retinitis Pigmentosa 89	Constriction of peripheral visual field, Nyctalopia	OMIM:618955
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Death in infancy, Short nose	OMIM:241800
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty...	ORPHA:453533
Phakomatosis Pigmentokeratotica	Patchy alopecia, Melanocytic nevus, Coloboma, Spina bifida	ORPHA:2874
Legionnaires Disease	Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myocarditis, Jaundice, Endocardit...	ORPHA:549
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Hypopigmentation of the skin, Nail dystrophy, Generalized reticulate brown pigmentation...	ORPHA:79396
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Osteoporosis-Pseudoglioma Syndrome	Cataract, Vitreoretinopathy, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Ex...	OMIM:259770
Triploidy	Cataract, Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly, Iris co...	ORPHA:3376
Bardet-Biedl Syndrome 3	Visual impairment, Nyctalopia	OMIM:600151
Adams-Oliver Syndrome	Cataract, Alopecia, Hypoplastic fingernail, Encephalocele, Aplastic/hypoplastic toenail, Hydrocep...	ORPHA:974
Monosomy 9Q22.3	Cataract, Downslanted palpebral fissures, Retinopathy, Epicanthus, Microphthalmia	ORPHA:77301
Recon Progeroid Syndrome	Hyperconvex thumb nails, Hirsutism, Attached earlobe, Absent lower eyelashes, Microtia	OMIM:620370
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Optic nerve compre...	ORPHA:79078
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Filippi Syndrome	Wide nasal bridge, Broad columella, Underdeveloped nasal alae, Intrauterine growth retardation, P...	ORPHA:3255
Late Infantile Neuronal Ceroid Lipofuscinosis	Blindness, Visual loss, Astigmatism, Reduced visual acuity, Myopia	ORPHA:168491
Combined Oxidative Phosphorylation Deficiency 11	Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure	OMIM:614922
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Hepatitis, C...	ORPHA:562
Schimke Immuno-Osseous Dysplasia	Minimal change glomerulonephritis, Abnormality of thyroid physiology, Abnormal intestine morpholo...	ORPHA:1830
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Short nose	ORPHA:210548
Ullrich Congenital Muscular Dystrophy	Respiratory failure	ORPHA:75840
Non-Distal Duplication 13Q	Aplasia/Hypoplasia affecting the eye, Short nose	ORPHA:1702
Propionic Acidemia	Hepatomegaly, Pancreatitis, Eczematoid dermatitis	OMIM:606054
Achondrogenesis	Anteverted nares, Short nose	ORPHA:932
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:614299
Tetraamelia Syndrome 1	Choanal atresia, Single naris, Microphthalmia	OMIM:273395
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Abnormal eyelash morphology	ORPHA:2518
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Prominent nasal bridge, Short nose	ORPHA:401935
Fanconi Anemia, Complementation Group F	Conductive hearing impairment, Hyperpigmentation of the skin, Microphthalmia, Cafe-au-lait spot, ...	OMIM:603467
Curry-Jones Syndrome	High anterior hairline, Occipital meningocele, Hirsutism, Lipomyelomeningocele, Microphthalmia, I...	OMIM:601707
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Conductive hearing impairment, Small nail, Atresia of the external auditory canal, Stenosis of th...	OMIM:608257
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Primary hyperparathyroidism, Pancreatitis, Multiple lipomas	OMIM:600740
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Respiratory failure, Death in infancy, Neonatal death	OMIM:605711
Joubert Syndrome 32	Depressed nasal bridge, Molar tooth sign on MRI	OMIM:617757
Acrofrontofacionasal Dysostosis	Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow	ORPHA:1784
Diamond-Blackfan Anemia 10	Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Hearing impa...	OMIM:613309
Seckel Syndrome 2	Few cafe-au-lait spots, Microphthalmia	OMIM:606744
Congenital Disorder Of Glycosylation, Type 2V	Wide nasal bridge, Retrognathia, Underdeveloped nasal alae, Bulbous nose, High palate, Low hangin...	OMIM:619493
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Coloboma	ORPHA:464288
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Abnormally large globe, Blindness	OMIM:603387
Microcephalic Primordial Dwarfism, Dauber Type	Primary amenorrhea, Bilateral breast hypoplasia, Microtia	ORPHA:319675
Joubert Syndrome 7	Brainstem dysplasia, Encephalocele, Molar tooth sign on MRI, Hypoplasia of the brainstem	OMIM:611560
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae	OMIM:618223
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormal chorioretinal m...	ORPHA:5
Bainbridge-Ropers Syndrome	High, narrow palate, Underdeveloped nasal alae, Bulbous nose, Prominent nasal bridge, Long nose, ...	ORPHA:352577
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Common Variable Immunodeficiency	Pneumonia, Bronchiectasis, Lymphoma, Abnormality of the liver, Otitis media, Splenomegaly, Gastro...	ORPHA:1572
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia, Biliary tract abnormality, Microphthalmia	ORPHA:3191
Keutel Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Recurrent sinusitis, Wide nose	ORPHA:85202
Porphyria Cutanea Tarda	Hypopigmentation of the skin, Hypertrichosis, Corneal scarring, Hirsutism, Hyperpigmentation of t...	ORPHA:101330
Familial Isolated Hypoparathyroidism	Cataract	ORPHA:2238
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Macular coloboma, Retinal coloboma	OMIM:107550
Metatropic Dysplasia	Depressed nasal bridge, Respiratory failure, Respiratory insufficiency	OMIM:156530
Leukoencephalopathy With Vanishing White Matter 1	Blindness	OMIM:603896
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Anteverted nares, Short nose	OMIM:618437
Combined Oxidative Phosphorylation Defect Type 7	Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity	ORPHA:254930
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Hepatomegaly, Microphthalmia	OMIM:619053
Isolated Atp Synthase Deficiency	Cataract, Blindness	ORPHA:254913
Acquired Generalized Lipodystrophy	Lymphoma, Hepatic steatosis, Astrocytoma, Cirrhosis, Hepatomegaly, Panniculitis, Acute pancreatitis	ORPHA:79086
Meier-Gorlin Syndrome 4	Low-set ears, Breast hypoplasia, Microtia	OMIM:613804
Cockayne Syndrome Type 3	Lentiglobus, Cataract, Microcornea, Premature graying of hair, Abnormality of peripheral nerve co...	ORPHA:90324
Classic Mycosis Fungoides	Alopecia, Abnormality of the nail, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2584
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating hepatic transaminase concentration, Astigmatism, Corneal opacity, Hepatomega...	OMIM:301056
Juvenile Neuronal Ceroid Lipofuscinosis	Blindness, Visual loss, Large central visual field defect	ORPHA:79264
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Iris coloboma, Sparse eyebrow, Absent nipple, Bilateral conductive hearing impairme...	OMIM:620186
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Cholesteato...	OMIM:611209
Neurodevelopmental Disorder With Spasticity And Poor Growth	Low-set ears, Large earlobe, Long eyelashes, Hirsutism, Synophrys, Nail pits, Microtia	OMIM:618076
3Q29 Microdeletion Syndrome	Cataract, Downslanted palpebral fissures, Abnormality of skin pigmentation, Microphthalmia	ORPHA:65286
Caroli Syndrome	Intrahepatic cholestasis, Hypersplenism, Portal hypertension, Congenital hepatic fibrosis, Abnorm...	ORPHA:480520
Al-Raqad Syndrome	Hypopigmentation of the skin	OMIM:616459
Kbg Syndrome	Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Cleft palate	ORPHA:2332
Knobloch Syndrome	Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Occipital encephalocele, Abnor...	ORPHA:1571
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hypothyroidism, Iridocyclitis, Pancreatitis	ORPHA:412057
Joubert Syndrome 25	Molar tooth sign on MRI	OMIM:616781
Sarcosinemia	Congenital blindness	ORPHA:3129
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology	ORPHA:275872
Lipoid Proteinosis	Abnormal oral mucosa morphology, Nasal polyposis, Microglossia, Thick lower lip vermilion, Abnorm...	ORPHA:530
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Narrow naris, Anteverted nares, Short...	OMIM:617157
Monosomy 9P	Low-set ears, Highly arched eyebrow, Atresia of the external auditory canal, Anotia, Thick eyebro...	ORPHA:261112
Cystinosis	Corneal opacity	ORPHA:213
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit...	OMIM:620303
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Depressed nasal bridge, Bilateral microphthalmos, Bulbous nose, Short nose	ORPHA:369891
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches	ORPHA:1825
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus	ORPHA:676
Fg Syndrome Type 1	Optic nerve hypoplasia, Cupped ear, Stenosis of the external auditory canal, Frontal upsweep of h...	ORPHA:93932
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Recurrent upper respiratory tract infectio...	OMIM:614963
Intellectual Developmental Disorder, X-Linked 21	Short nose	OMIM:300143
Neuroferritinopathy	T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Iron accumulation in substantia ...	ORPHA:157846
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later...	OMIM:606070
Garg-Mishra Progeroid Syndrome	Reduced visual acuity, High hypermetropia, Microphthalmia	OMIM:620601
Methanol Poisoning	Blindness, Visual impairment, Blurred vision	ORPHA:31825
Heimler Syndrome 1	Leukonychia, Beau's lines, Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Peters anomaly, Small nail, Intrauterine growth retardation, Broad eyebrow, Colobo...	OMIM:616975
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:435651
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Martsolf Syndrome 1	Cataract, Cardiomyopathy, Congestive heart failure, Developmental cataract, Microphthalmia, Cardi...	OMIM:212720
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Short nose	OMIM:614732
Hurler-Scheie Syndrome	Aortic regurgitation, Mitral regurgitation, Splenomegaly, Pulmonary arterial hypertension, Cornea...	OMIM:607015
Flat Face-Microstomia-Ear Anomaly Syndrome	High, narrow palate, Wide nasal bridge, Hypoplasia of the zygomatic bone, Underdeveloped nasal al...	ORPHA:1968
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pancreatitis	ORPHA:70578
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis	ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Stapes Ankylosis With Broad Thumbs And Toes	Long nose, Low hanging columella, Underdeveloped nasal alae	OMIM:184460
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Hepatic steatosis, Cirrhosis, Pancreatitis, Hepatomegaly	ORPHA:79083
Al-Gazali-Bakalinova Syndrome	Wide nasal bridge, Depressed nasal bridge, Molar tooth sign on MRI	OMIM:607131
Blepharophimosis-Impaired Intellectual Development Syndrome	Wide nasal bridge, Dental malocclusion, Underdeveloped nasal alae, Anteverted nares, Narrow nasal...	OMIM:619293
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Low-set ears, Hearing impairment, Breast hypoplasia, Long eyelashes, Absent axillary hair, Poster...	OMIM:601353
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Molar tooth sign on MRI	OMIM:614120
Zygomycosis	Colon perforation, Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Ileitis, Pustule, My...	ORPHA:73263
Citrullinemia Type Ii	Hepatic fibrosis, Hepatic steatosis, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma	ORPHA:247585
Achondrogenesis Type 1B	Anteverted nares, Short nose	ORPHA:93298
Fucosidosis	Corneal opacity	ORPHA:349
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract, Macular degeneration	OMIM:619780
Lowry-Maclean Syndrome	Corneal opacity, Developmental glaucoma, Megalocornea	ORPHA:2409
Foxp1 Syndrome	Recurrent upper respiratory tract infections, Broad nasal tip, Prominent nasolabial fold, Short nose	ORPHA:391372
Cousin Syndrome	Low-set ears, Microtia, first degree, Hearing impairment, Stenosis of the external auditory canal...	OMIM:260660
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Aplasia of the inner ear, Anteverted ears, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Familial Multiple Lipomatosis	Coloboma, Chorioretinitis	ORPHA:199276
Roifman Syndrome	Narrow nose, Intrauterine growth retardation, Anteverted nares, Underdeveloped nasal alae	OMIM:616651
Spondyloepiphyseal Dysplasia, Maroteaux Type	Opacification of the corneal stroma	OMIM:184095
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	Spina bifida occulta, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
14Q22Q23 Microdeletion Syndrome	Underdeveloped nasal alae, Optic nerve aplasia, Micrognathia, Malar flattening, Anophthalmia	ORPHA:264200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpus callosum	OMIM:614833
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cataract, Buphthalmos	ORPHA:370997
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614613
Congenital Syphilis	Pneumonia, Keratitis, Hepatosplenomegaly, Synovitis, Rhinitis, Prolonged neonatal jaundice, Pancr...	ORPHA:499009
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Myopia, High myopia, Corneal dystrophy, Nyctalopia	OMIM:617763
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Cupped ear, Sensorineural hearing impairment, Microtia	ORPHA:314588
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Abnormal pupil morphology, Corneal opacity, Chorioretinal dysplasia, Micro...	ORPHA:534
Microphthalmia, Syndromic 2	Microcornea, Anophthalmia, Phthisis bulbi, Retinal detachment, Developmental cataract, Microphtha...	OMIM:300166
Carney Triad	Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Le...	ORPHA:139411
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Ring Chromosome 7 Syndrome	Wide nasal bridge, Narrow naris, Anteverted nares, Prominent nasal bridge, Short nose	ORPHA:1449
Sturge-Weber Syndrome	Abnormality of vision, Blindness, Heterochromia iridis, Conjunctival telangiectasia, Hemianopia, ...	ORPHA:3205
Deafness-Craniofacial Syndrome	Bifid tongue, Underdeveloped nasal alae, Wide nasal bridge	ORPHA:3241
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Short nose	OMIM:619356
Joubert Syndrome 2	Depressed nasal bridge, Hypoplasia of the brainstem, Brainstem dysplasia, Encephalocele, Elongate...	OMIM:608091
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Intrauterine growth re...	OMIM:613026
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Sparse eyebrow, Premature graying of hair, Sparse eyelashes, Absent eyelas...	OMIM:268400
Cutis Laxa, Autosomal Recessive, Type Iic	Broad nasal tip, Broad columella, Narrow naris, Anteverted nares, Concave nasal ridge	OMIM:617402
Obesity And Hypopigmentation	Red hair	OMIM:620195
Hallermann-Streiff Syndrome	Cataract, Sparse eyebrow, Optic disc coloboma, Chorioretinal coloboma, Fine hair, Sparse eyelashe...	OMIM:234100
Multiple Sulfatase Deficiency	Retinal degeneration, Corneal opacity	OMIM:272200
Tetrasomy 18P	Short nose	ORPHA:3307
Achondrogenesis Type 1A	Anteverted nares, Short nose	ORPHA:93299
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Death in adolescence, Pigmentary retinopathy	OMIM:619059
Cat Eye Syndrome	Chorioretinal coloboma, Downslanted palpebral fissures, Epicanthus, Microphthalmia, Iris coloboma	OMIM:115470
Fibrochondrogenesis 2	Anteverted nares, Short nose	OMIM:614524
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Respiratory failure	OMIM:606612
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Respiratory failure, Myelopathy, Death in childhood	OMIM:617186
Superficial Siderosis	Anisocoria	ORPHA:247245
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyebrow, Downslanted palpebral fissures, Sparse eyelashes, Microphthalmia	OMIM:302960
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity	ORPHA:363558
Holoprosencephaly-Craniosynostosis Syndrome	Epicanthus, Short palpebral fissure, Upslanted palpebral fissure, Abnormality of retinal pigmenta...	ORPHA:2163
Glycogen Storage Disease Ib	Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Pancreatic fibrosis, Hepat...	OMIM:232220
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Short nose	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, Blindness, Visual impairment, Central scotoma	ORPHA:543470
Chondrodysplasia Punctata, Autosomal Dominant	Cataract, Hypoplasia of the nasal bone	OMIM:118650
Trichohepatoenteric Syndrome 1	Low-set ears, Fine hair, Trichorrhexis nodosa, Brittle hair, Woolly hair, Generalized hypopigment...	OMIM:222470
Cutis Laxa, Autosomal Recessive, Type Iid	Wide nasal bridge, Bulbous nose, Narrow naris	OMIM:617403
Bardet-Biedl Syndrome 1	Cataract, Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Astigmatism,...	OMIM:209900
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Alg1-Cdg	Respiratory failure	ORPHA:79327
21Q22.11Q22.12 Microdeletion Syndrome	Low-set ears, Small nail, Recurrent otitis media, Nail dystrophy, Hypoplastic nipples, Periorbita...	ORPHA:261323
Mosaic Trisomy 8	Hypopigmentation of the skin, Hypopigmented skin patches, Corneal opacity	ORPHA:96061
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Short nose	ORPHA:2701
Porphyria, Congenital Erythropoietic	Alopecia, Hypopigmentation of the skin, Hypertrichosis, Corneal scarring, Loss of eyelashes, Hype...	OMIM:263700
Fetal Trimethadione Syndrome	Depressed nasal bridge, Short nose	ORPHA:1913
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Blindness	OMIM:236270
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl...	OMIM:613986
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Pigmentary retinopathy, Trichiasis, Peters anomaly, Corneal scarring, Epib...	OMIM:618460
Renal Coloboma Syndrome	Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma	ORPHA:1475
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Short nose, Bulbous nose	ORPHA:284169
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Respiratory failure	OMIM:620296
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure	ORPHA:363400
Cockayne Syndrome	Lentiglobus, Cataract, Pigmentary retinopathy, Band keratopathy, Abnormal cornea morphology, Reti...	ORPHA:191
Chromosome Xp11.23-P11.22 Duplication Syndrome	Prominent nasal bridge, Underdeveloped nasal alae	OMIM:300801
Brittle Cornea Syndrome	Corneal scarring, Abnormality of hair pigmentation, Decreased corneal thickness, Retinal detachme...	ORPHA:90354
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Retinal coloboma, Hypertrichosis, Abnormal optic disc morphology, Coloboma, Spina bifida, Microph...	ORPHA:508498
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Upslanted palpebral fissur...	OMIM:214100
Aicardi Syndrome	Optic atrophy, Cataract, Sparse lateral eyebrow, Optic disc coloboma, Retinal detachment, Chorior...	OMIM:304050
Fanconi Anemia, Complementation Group L	Low-set ears, Anotia, Microphthalmia, Cafe-au-lait spot, Microtia	OMIM:614083
Townes-Brocks Syndrome 2	Overfolded helix, Cupped ear, Microtia	OMIM:617466
13Q12.3 Microdeletion Syndrome	Intrauterine growth retardation, Low insertion of columella, Malar flattening, Underdeveloped nas...	ORPHA:412035
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
46,Xy Sex Reversal 4	Recurrent otitis media, Microtia, Hypergonadotropic hypogonadism, Sensorineural hearing impairment	OMIM:154230
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Nasal polyposis, Nasal congestion, Chronic rhinitis, Hydrocephalus...	ORPHA:244
Trichothiodystrophy	Brittle hair, Split nail, Microcornea, Macular degeneration, Bilateral microphthalmos, Ridged nai...	ORPHA:33364
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Respiratory failure, Death in infancy	ORPHA:1194
Aicardi Syndrome	Optic atrophy, Sparse lateral eyebrow, Optic disc coloboma, Chorioretinal coloboma, Abnormality o...	ORPHA:50
Dystonia-Deafness Syndrome 1	Cataract	OMIM:607371
Bainbridge-Ropers Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Retrognathia, Underdeveloped nasal al...	OMIM:615485
Mucolipidosis Type Iii Alpha/Beta	Corneal opacity	ORPHA:423461
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Absent toenail, Posteriorly rotated ears, Macrotia, Microtia	OMIM:620663
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Short nose	OMIM:614078
Pontocerebellar Hypoplasia, Type 7	Optic atrophy, Hypopigmentation of the skin, Hirsutism, Hydrocephalus, Synophrys	OMIM:614969
Codas Syndrome	Depressed nasal bridge, Anteverted nares, Midline defect of the nose, Short nose	ORPHA:1458
Hennekam-Beemer Syndrome	Irregular hyperpigmentation, Conductive hearing impairment, Hearing impairment, Generalized hyper...	ORPHA:2135
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology	ORPHA:52430
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Underdeveloped nasal alae, Anteverted nares, Meningocele, Glossoptosis, Short nose	ORPHA:2031
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract, Punctate cataract	OMIM:607812
Gillessen-Kaesbach-Nishimura Syndrome	Convex nasal ridge, Micrognathia, Retrognathia, Underdeveloped nasal alae	OMIM:263210
Isolated Succinate-Coq Reductase Deficiency	Reduced visual acuity, Blindness	ORPHA:3208
Rothmund-Thomson Syndrome Type 1	Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Juvenile cataract, Na...	ORPHA:221008
Ruijs-Aalfs Syndrome	Cataract, Posterior subcapsular cataract, Sparse hair, Premature graying of hair	OMIM:616200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in adolescence, Pigmentary retinopathy, Death in childhood, Mottled pigmentation of photoex...	OMIM:560000
Wolfram Syndrome, Mitochondrial Form	Blindness	OMIM:598500
Rothmund-Thomson Syndrome	Sparse eyebrow, Hypopigmentation of the skin, Small nail, Alopecia totalis, Reticular hyperpigmen...	ORPHA:2909
Pigmented Nodular Adrenocortical Disease, Primary, 2	Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level	OMIM:610475
Neurofibromatosis Type 1	Cataract, Inguinal freckling, Axillary freckling, Hypopigmented skin patches, Chorioretinal colob...	ORPHA:636
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Broad columella, Narrow nasal bridge, Anteverted nares, Low hanging columella,...	OMIM:619383
Isotretinoin-Like Syndrome	Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se...	ORPHA:2306
Tarp Syndrome	Low-set ears, Prominent antihelix, Posteriorly rotated ears, Microtia	OMIM:311900
Kagami-Ogata Syndrome	Frontal hirsutism, Microtia	OMIM:608149
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Astigmatism	ORPHA:2095
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Joubert Syndrome 10	Wide nasal bridge, Molar tooth sign on MRI	OMIM:300804
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Ciliary Dyskinesia, Primary, 1	Abnormal cornea morphology	OMIM:244400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Hepatomegaly, Pancreatitis	OMIM:251000
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Depressed nasal bridge, Respiratory failure, Neonatal death	OMIM:616482
Fraser Syndrome	Wide nasal bridge, Depressed nasal bridge, Anal stenosis, Dental malocclusion, Underdeveloped nas...	ORPHA:2052
Trichorhinophalangeal Syndrome, Type Iii	Bulbous nose, Supernumerary tooth, Pear-shaped nose, Underdeveloped nasal alae	OMIM:190351
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Low-set ears, Abnormally large globe, Thick eyebrow, Low posterior hairline, Prominent antitragus...	OMIM:245600
Skin Creases, Congenital Symmetric Circumferential, 2	Low-set ears, Low anterior hairline, Uplifted earlobe, Microphthalmia, Overfolded helix, Synophry...	OMIM:616734
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Atrophy/Degeneration involving the spinal cord, Abnormal thalamic MRI signal intensity	ORPHA:70595
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Anteverted nares, High palate, Inc...	ORPHA:438216
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Death in childhood	OMIM:619517
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Depressed nasal bridge, Respiratory failure	OMIM:617895
1Q21.1 Microdeletion Syndrome	Cataract, Iris coloboma, Microphthalmia	ORPHA:250989
Congenital Bile Acid Synthesis Defect Type 1	Nyctalopia	ORPHA:79301
Joubert Syndrome 31	Molar tooth sign on MRI	OMIM:617761
Hypotrichosis With Juvenile Macular Degeneration	Blindness	ORPHA:1573
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Choanal atresia, Carious teeth, Broad nasal tip, Xerostomia, Selective tooth agenesis, Cleft uppe...	OMIM:129900
Meier-Gorlin Syndrome 2	Breast hypoplasia, Abnormal pinna morphology, Microtia	OMIM:613800
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Low-set ears, Sparse eyebrow, High anterior hairline, Supernumerary nipple, Thick eyebrow, Protru...	OMIM:620098
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Abnormal nostril morphology, Short nose	ORPHA:1295
Roifman Syndrome	Intrauterine growth retardation, Narrow nasal bridge, Underdeveloped nasal alae	ORPHA:353298
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death	OMIM:265120
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Wide nasal bridge, Depressed nasal bridge, Prominent nose, Anteverted nares, Short nose	OMIM:618316
Moebius Syndrome	Hypogonadotropic hypogonadism, Abnormality of the nail, Abnormal pinna morphology, Microphthalmia	OMIM:157900
Refsum Disease, Classic	Cataract, Nyctalopia	OMIM:266500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Facial palsy	OMIM:613156
Gapo Syndrome	Keratoconus, Optic atrophy, Alopecia, Sparse eyebrow, Hypopigmented skin patches, Umbilical herni...	ORPHA:2067
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess...	OMIM:616959
Periventricular Nodular Heterotopia 7	Anteverted nares, Short nose	OMIM:617201
Fetal Alcohol Syndrome	Anteverted nares, Short nose, Microphthalmia	ORPHA:1915
Macular Dystrophy, Retinal, 3	Color vision defect, Reduced visual acuity, Central scotoma	OMIM:608850
Maple Syrup Urine Disease, Type Ia	Pancreatitis	OMIM:248600
Catel-Manzke Syndrome	Narrow nose, Low insertion of columella, Narrow naris	OMIM:616145
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Leukodystrophy, Hypomyelinating, 10	Bulbous nose, Anteverted nares, Short nose	OMIM:616420
Oculodentodigital Dysplasia	Carious teeth, Underdeveloped nasal alae, Short nose, Narrow nose, Narrow nasal bridge, Anteverte...	OMIM:164200
Van Maldergem Syndrome 2	High anterior hairline, Conductive hearing impairment, Atresia of the external auditory canal, He...	OMIM:615546
Igg4-Related Ophthalmic Disease	Thyroiditis, Keratitis, Retroperitoneal fibrosis, Lymphoma, Sialadenitis, Orchitis, Non-Hodgkin l...	ORPHA:449563
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:216866
Martinez-Frias Syndrome	Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal...	OMIM:601346
Gangliocytoma	Pituitary prolactin cell adenoma, Abnormal brainstem morphology, Pituitary null cell adenoma, Adr...	ORPHA:251937
Rapp-Hodgkin Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Depressed nasal bridge, Velopharyngeal ins...	OMIM:129400
Hermansky-Pudlak Syndrome 2	Fair hair, Ocular albinism, Aberrant melanosome maturation, Generalized hypopigmentation, Albinism	OMIM:608233
Donnai-Barrow Syndrome	Depressed nasal bridge, Short nose	ORPHA:2143
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Nuclear pulverulent cataract, Microphthalmia	OMIM:612474
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Thickened ears, Microtia	ORPHA:363659
Large Congenital Melanocytic Nevus	Hypopigmented skin patches, Congenital giant melanocytic nevus, Generalized hirsutism, Hydrocepha...	ORPHA:626
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cataract, Sensory axonal neuropathy, Abnormal motor nerve conduction velocity, Abnormality of ret...	ORPHA:466768
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Pigmentary retinopathy, Optic atrophy, Opacification of the corneal stroma, Optic nerve...	OMIM:614866
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Hermansky-Pudlak Syndrome 4	Hypoplasia of the fovea, Reduced visual acuity, Ocular albinism	OMIM:614073
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urinary bladder inflammation, Abn...	ORPHA:449395
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:93329
Williams Syndrome	Cataract, Megalocornea, Hypertrophic cardiomyopathy, Congestive heart failure, Cerebral ischemia,...	ORPHA:904
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory failure	OMIM:250940
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy, Ptosis	OMIM:612291
Multiple Acyl-Coa Dehydrogenase Deficiency	Depressed nasal bridge, Cardiorespiratory arrest, Respiratory failure, Fatigable weakness of neck...	ORPHA:26791
Ruvalcaba Syndrome	Narrow nose, Underdeveloped nasal alae	OMIM:180870
Canavan Disease	Visual impairment, Blindness	OMIM:271900
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Hypopigmentation of the skin, Myelopathy, Megalocornea, Umbilical hernia, Opacifi...	OMIM:252500
Congenital Myopathy 21 With Early Respiratory Failure	Respiratory failure	OMIM:620326
Treacher Collins Syndrome 1	Choanal atresia, Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gl...	OMIM:154500
Lymphedema-Hypoparathyroidism Syndrome	Cataract	OMIM:247410
Glycogen Storage Disease Ia	Hepatomegaly, Pancreatitis, Gout, Hepatocellular carcinoma	OMIM:232200
Synostoses, Tarsal, Carpal, And Digital	Underdeveloped nasal alae	OMIM:186400
Rothmund-Thomson Syndrome Type 2	Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Juvenile cataract, Na...	ORPHA:221016
Meier-Gorlin Syndrome 3	Low-set ears, Sparse pubic hair, Breast hypoplasia, Sparse axillary hair, Posteriorly rotated ear...	OMIM:613803
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Short nose	ORPHA:163961
Cohen Syndrome	Optic atrophy, Downslanted palpebral fissures, Bull's eye maculopathy, Thick eyebrow, Chorioretin...	OMIM:216550
Branchiooculofacial Syndrome	Low-set ears, Iris coloboma, Conductive hearing impairment, Hearing impairment, Fusion of middle ...	OMIM:113620
Ablepharon Macrostomia Syndrome	Atresia of the external auditory canal, Hearing impairment, Fine hair, Breast hypoplasia, Absent ...	ORPHA:920
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Depressed nasal bridge, Hypopituitarism, Decreased response to growt...	ORPHA:226307
Treacher Collins Syndrome 2	Anotia, Microtia, Conductive hearing impairment, Fusion of middle ear ossicles	OMIM:613717
Myoclonic-Astatic Epilepsy	Attention deficit hyperactivity disorder, Hyperactivity, Microphthalmia	ORPHA:1942
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Choanal atresia, Anal stenosis, Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper ...	OMIM:604292
Mucopolysaccharidosis, Type Ivb	Opacification of the corneal stroma, Corneal opacity	OMIM:253010
Muenke Syndrome	Hydrocephalus, Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Stickler Syndrome, Type I	Cataract, Blindness, Myopia	OMIM:108300
Meier-Gorlin Syndrome 5	Low-set ears, Small earlobe, Microtia	OMIM:613805
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Intestinal malrotation, Esophagitis, Anophthalmia, Perineal fistula, Hiatus hernia,...	ORPHA:2538
Visceral Myopathy 1	Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal...	OMIM:155310
Adnp Syndrome	Low-set ears, High anterior hairline, Hirsutism, Protruding ear, Iris coloboma, Abnormality of th...	ORPHA:404448
Koolen-De Vries Syndrome	High, narrow palate, Wide nasal bridge, Underdeveloped nasal alae, Abnormal dental enamel morphol...	ORPHA:96169
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Respiratory insufficiency, Nasal congestion, Bulbous nose, Death i...	OMIM:608836
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Hypopigmentation of the skin, Intrauterine growth retardation, Hyperpigmen...	ORPHA:177907
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Highly arched eyebrow, Hearing impairment, Chorioretinal colo...	ORPHA:138
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Sparse eyebrow, Downslanted palpebral fissures, Epicanthus, Ptosis, Developmental ca...	ORPHA:464738
Acute Lung Injury	Pneumonia, Acute pancreatitis	ORPHA:178320
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Anteriorly placed anus, Underdeveloped nasal alae, Intrauterine growth...	ORPHA:2315
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Low-set ears, Hearing impairment, Recurrent otitis media, Microphthalmia, Posteriorly rotated ears	OMIM:618494
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Hypermyelinated retinal nerve fibers, Shallow orbits, Corneal opacity, Mic...	OMIM:601812
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Portal fibrosis, Eczematoid dermatitis, Hepatosplenomegaly,...	ORPHA:3260
Leigh Syndrome	Focal T2 hyperintense brainstem lesion, Respiratory failure, Abnormal thalamic MRI signal intensi...	ORPHA:506
Chédiak-Higashi Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi...	ORPHA:167
Familial Chylomicronemia Syndrome	Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Perianal abscess, Jaundice, Acute ...	ORPHA:444490
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Ogden Syndrome	High, narrow palate, Microretrognathia, Underdeveloped nasal alae, Enlarged naris, Short columella	ORPHA:276432
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Tangier Disease	Opacification of the corneal stroma	OMIM:205400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Alopecia, Nail dystrophy, Nail dysplasia, Hyperpigmentation of the skin	OMIM:175500
Tetrasomy 12P	Anteverted nares, Short nose	ORPHA:884
Sandhoff Disease, Infantile Form	Abnormal thalamic MRI signal intensity	ORPHA:309155
Fryns Syndrome	Microphthalmia, Corneal opacity	ORPHA:2059
Slc35A2-Cdg	Intrauterine growth retardation, Hypopigmentation of the skin	ORPHA:356961
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Underdeveloped nasal alae, Cleft mandible, Bulbou...	OMIM:608670
Krabbe Disease	Blindness	OMIM:245200
Geleophysic Dysplasia 3	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Respiratory failure	OMIM:617809
Poikiloderma With Neutropenia	Depressed nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Micrognathia, Rec...	OMIM:604173
Deafness-Vitiligo-Achalasia Syndrome	Hypopigmented skin patches	ORPHA:3239
Progeria-Short Stature-Pigmented Nevi Syndrome	Abnormal thalamus morphology	ORPHA:2959
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Familial Mediterranean Fever	Erysipelas, Oral leukoplakia, Skin rash, Intestinal obstruction, Splenomegaly, Orchitis, Peritoni...	ORPHA:342
Joubert Syndrome 18	Occipital encephalocele, Molar tooth sign on MRI	OMIM:614815
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Cataract, Sensory axonal neuropathy, Retinal pigment epithelial mottling, Peripheral axonal neuro...	OMIM:607459
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Conjunctival telangiectasia, F...	OMIM:618373
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat...	ORPHA:333
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Telecanthus, Retinal pigment epithelial mottling	OMIM:617102
Pyruvate Dehydrogenase E1-Alpha Deficiency	Blindness	ORPHA:79243
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Nyctalopia	ORPHA:99947
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Abnormal hypothalamus morphology, Encephalocele, Abnormal pituitary...	ORPHA:314621
Mend Syndrome	Cataract, Abnormal auditory evoked potentials, Telecanthus, Upslanted palpebral fissure, Spotty h...	ORPHA:401973
Late-Infantile/Juvenile Krabbe Disease	Visual impairment, Visual loss, Blindness	ORPHA:206443
Pneumocystosis	Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency	ORPHA:723
Momo Syndrome	Blindness, Bilateral microphthalmos	ORPHA:2563
17Q24.2 Microdeletion Syndrome	Otosclerosis, Recurrent otitis media, Thick eyebrow, Progressive conductive hearing impairment, S...	ORPHA:529962
Dermatoosteolysis, Kirghizian Type	Keratitis, Nyctalopia	ORPHA:1657
Faciocardiorenal Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Cleft palate	ORPHA:1973
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:616430
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Short nose	OMIM:218000
Gm1 Gangliosidosis	Optic atrophy, Cherry red spot of the macula, Abnormal retinal vascular morphology, Corneal opaci...	ORPHA:354
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Albers-Schönberg Osteopetrosis	Visual impairment, Blindness	ORPHA:53
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose	ORPHA:1129
Acrofacial Dysostosis, Rodríguez Type	Microtia	ORPHA:1788
Avian Influenza	Myelitis, Respiratory failure, Miscarriage	ORPHA:454836
Axial Mesodermal Dysplasia Spectrum	Microtia	ORPHA:1834
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Bulbous nose, Short nose	OMIM:618430
Alacrima, Congenital, Autosomal Dominant	Punctate corneal epithelial erosions, Lacrimal gland hypoplasia	OMIM:103420
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma	OMIM:251290
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Abnormal retinal morphology, Death in childhood, Bilateral micro...	OMIM:610758
Heart And Brain Malformation Syndrome	Low-set ears, Attached earlobe, Posteriorly rotated ears, Microphthalmia	OMIM:616920
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Astigmatism, Optic nerve dysplasia	OMIM:617296
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Low-set ears, Microtia	OMIM:616723
Hsd10 Disease, Infantile Type	Blindness, Visual loss	ORPHA:391428
Intellectual Developmental Disorder, Autosomal Dominant 53	Frontal upsweep of hair, Microtia	OMIM:617798
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure	OMIM:603689
Dyskeratosis Congenita	Sparse hair, Cataract, Alopecia, Hypopigmented skin patches, White hair, Premature graying of hai...	ORPHA:1775
Joubert Syndrome With Oculorenal Defect	Visual impairment, Iris coloboma, Blindness	ORPHA:2318
Aica-Ribosiduria	Congenital blindness	ORPHA:250977
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Gout, Hepatic steatosis, Increased hepatic gl...	ORPHA:79259
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, R...	OMIM:607625
Melioidosis	Abnormal parotid gland morphology, Parotitis	ORPHA:31202
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Rectal prolapse, Peritonitis, Pancreatitis, Colonic stenosis, Acute colitis, Intestinal perforati...	ORPHA:90038
Hermansky-Pudlak Syndrome 11	Ocular albinism, Hypoplasia of the fovea, Reduced visual acuity, Iris transillumination defect, P...	OMIM:619172
Carpenter Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Narrow naris	OMIM:614976
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:242860
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98754
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Short nose	ORPHA:261144
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Low posterior hairline, Microphthalmia, Abnormal pinna morphology, Microtia	OMIM:617925
Hand-Foot-Genital Syndrome	Hypoplastic fifth toenail, Microtia	ORPHA:2438
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Low-set ears, Abnormality of the outer ear, Fine hair, Coloboma, Sparse hair	ORPHA:251028
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Periventricular Nodular Heterotopia 9	Squared superior portion of helix, Hirsutism, Microtia, Posteriorly rotated ears, Synophrys	OMIM:618918
Adult Krabbe Disease	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology	ORPHA:206448
Semilobar Holoprosencephaly	Depressed nasal ridge, Single naris, Proboscis	ORPHA:220386
Congenital Tufting Enteropathy	Cataract, Optic disc coloboma, Punctate keratitis, Corneal erosion	ORPHA:92050
Alobar Holoprosencephaly	Depressed nasal ridge, Single naris, Proboscis	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depressed nasal ridge, Single naris, Proboscis	ORPHA:93926
Lobar Holoprosencephaly	Depressed nasal ridge, Single naris, Proboscis	ORPHA:93924
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Micrognathia, Mandibular pro...	OMIM:619720
Glycine Encephalopathy With Normal Serum Glycine	Depressed nasal bridge, Anteverted nares, Respiratory failure	OMIM:617301
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure	OMIM:618233
Hypomandibular Faciocranial Dysostosis	Death in infancy, Anteverted nares, Choanal stenosis, Short nose	ORPHA:1790
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Chromosome 13Q14 Deletion Syndrome	Chorioretinal coloboma, Retinoblastoma, Epicanthus, Microphthalmia, Iris coloboma	OMIM:613884
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Underdeveloped nasal alae, Bulbous nose, High palate, Low hanging columella, S...	OMIM:615803
Cadds	Cataract	ORPHA:369942
Squalene Synthase Deficiency	Low-set ears, Abnormality of hair pigmentation, Posteriorly rotated ears, Macrotia, Optic nerve h...	OMIM:618156
Hepatoerythropoietic Porphyria	Facial hypertrichosis, Hypopigmentation of the skin, Loss of eyelashes, Keratoconjunctivitis, Hyp...	ORPHA:95159
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Concave nasal ridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:613038
Xeroderma Pigmentosum	Cataract, Optic atrophy, Alopecia, Keratitis, Hypopigmented skin patches, Hypermelanotic macule, ...	ORPHA:910
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis, Chilblains, Hypothy...	OMIM:619487
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98793
Mosaic Trisomy 1	Opacification of the corneal stroma, Microphthalmia	ORPHA:1692
Barber-Say Syndrome	Low-set ears, Sparse eyebrow, Microtia, first degree, Absent nipple, Hearing impairment, Extra co...	OMIM:209885
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177904
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hyperpigmented/hypopigmented macules, Fair hair, Large fleshy ears, Hypoplastic fingernail, Promi...	ORPHA:280633
Prolidase Deficiency	Concave nasal ridge, Depressed nasal bridge, Short nose	OMIM:170100
Arthrogryposis, Distal, Type 2A	Wide nasal bridge, Underdeveloped nasal alae, Malar flattening, Spina bifida occulta, High palate...	OMIM:193700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177901
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Axenfeld anomaly	OMIM:266270
Alagille Syndrome 1	Cataract, Microcornea, Band keratopathy, Pigmentary retinopathy, Axenfeld anomaly, Chorioretinal ...	OMIM:118450
Meningioma	Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Brain stem compression, Increas...	ORPHA:2495
Hurler Syndrome	Aortic regurgitation, Cardiomyopathy, Hepatosplenomegaly, Mitral regurgitation, Splenomegaly, Cor...	OMIM:607014
Ayme-Gripp Syndrome	Low-set ears, Hearing impairment, Nail dystrophy, Sensorineural hearing impairment, Broad eyebrow...	OMIM:601088
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure	OMIM:620166
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Van Maldergem Syndrome 1	Microtia, Conductive hearing impairment, Atresia of the external auditory canal, Sensorineural he...	OMIM:601390
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Highly arched eyebrow, Conductive hearing impairment, Recurrent otitis media, Melan...	OMIM:620450
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	High palate, Micrognathia, Underdeveloped nasal alae, Low hanging columella	OMIM:300986
Abetalipoproteinemia	Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Keratoconjunctivitis sicca, ...	ORPHA:14
Aymé-Gripp Syndrome	Low-set ears, Stenosis of the external auditory canal, Long eyelashes, Breast hypoplasia, Sensori...	ORPHA:1272
Joubert Syndrome With Renal Defect	Anteverted nares, Prominent nasal bridge, Encephalocele, Hydrocephalus, Molar tooth sign on MRI	ORPHA:220497
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, True anophthalmi...	ORPHA:1106
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Bardet-Biedl Syndrome 17	Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615994
Mucopolysaccharidosis Type 3	Cataract, Abnormal temper tantrums, Atrioventricular block, Reduced left ventricular ejection fra...	ORPHA:581
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose	OMIM:615539
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Abnormally large globe, Broad nasal tip, Prominent nasal bridge, Short nose, O...	OMIM:300749
Peho Syndrome	Short nose	OMIM:260565
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait s...	OMIM:210720
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Curly eyelashes, Microtia	OMIM:611717
Renpenning Syndrome 1	Cataract, Sparse lateral eyebrow, Death in childhood, Coloboma, Brittle hair, Microphthalmia, Spa...	OMIM:309500
Sim1-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Prolidase Deficiency	Abnormal fingernail morphology, White forelock, Abnormality of retinal pigmentation, Low anterior...	ORPHA:742
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Low anterior hairline, Protruding ear, Hirsutism, Overfolded helix, Synophrys, Post...	OMIM:613458
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Abnormality of retinal pigmentation	ORPHA:1496
Mirizzi Syndrome	Cholelithiasis, Pancreatitis, Abnormal ductus choledochus morphology, Gallbladder perforation, Ja...	ORPHA:521219
Mowat-Wilson Syndrome	Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Microphthalmia, Iris coloboma	OMIM:235730
Corneodermatoosseous Syndrome	Photophobia, Hemeralopia, Corneal dystrophy, Nyctalopia	ORPHA:3194
19Q13.11 Microdeletion Syndrome	Intrauterine growth retardation, Broad columella, Retrognathia, Underdeveloped nasal alae	ORPHA:217346
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Respiratory insufficiency, Prominent nose, Encephalocele, Molar tooth sign on MRI, Mi...	OMIM:616300
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Short nose	ORPHA:1185
Cogan Syndrome	Keratitis, Blindness, Reduced visual acuity, Conjunctivitis, Photophobia	ORPHA:1467
16P11.2P12.2 Microdeletion Syndrome	Bulbous nose, Anteverted nares, Absent nasal bridge, Long nose, Short nose	ORPHA:261211
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Low-set ears, Microtia	OMIM:277380
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Short nose	ORPHA:544503
Pallister-Hall Syndrome	Atresia of the external auditory canal, Nail dysplasia, Microphthalmia, Posteriorly rotated ears,...	OMIM:146510
Multiple System Atrophy 1, Susceptibility To	Iris atrophy	OMIM:146500
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal hypothalamus morpho...	ORPHA:68
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:145420
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma	OMIM:601853
Poliomyelitis	Myelitis, Fatigable weakness of respiratory muscles, Respiratory failure, Respiratory failure req...	ORPHA:2912
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Hearing impairment, Aplasia of the inner ear, Sensorineural hearing impairment, Microtia, Synophrys	ORPHA:90024
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Anteverted nares, Short nose, Wide nose	ORPHA:391408
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Choanal stenosis, Short nose	OMIM:101600
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Exocrine pancreatic insufficiency, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, A...	ORPHA:456312
Mosaic Variegated Aneuploidy Syndrome	Cataract, Intrauterine growth retardation, Multiple cafe-au-lait spots, Abnormality of skin pigme...	ORPHA:1052
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Microtia, Posteriorly rotated ears, Sensorineural hearing impairment	OMIM:301040
Cockayne Syndrome A	Cataract, Pigmentary retinopathy, Optic atrophy, Abnormal auditory evoked potentials, Retinal pig...	OMIM:216400
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Underdeveloped nasal alae, Intrauterine growth retardation, Micrognathia,...	OMIM:619005
Hereditary Motor And Sensory Neuropathy, Type Iic	Respiratory failure, Intercostal muscle weakness	OMIM:606071
Microphthalmia, Syndromic 6	Microcornea, Anophthalmia, Microphthalmia, Sclerocornea, Retinal dystrophy	OMIM:607932
Peutz-Jeghers Syndrome	Nasal polyposis, Abnormality of the nose, Pancreatic adenocarcinoma, Neoplasm of the colon, Neopl...	ORPHA:2869
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Broad columella, Short nose	OMIM:617865
Glycogen Storage Disease Ic	Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Hepatomegaly, St...	OMIM:232240
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Nail dystrophy, Hirsutism, Spotty hypopigmentation, Low posterior hairline, ...	OMIM:300860
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Low-set ears, Hypoplastic helices, Hearing impairment, Anteverted ears, Thickened helices, Abnorm...	OMIM:617641
X-Linked Agammaglobulinemia	Conjunctivitis, Alopecia, Hypopigmented skin patches	ORPHA:47
Koolen-De Vries Syndrome Due To A Point Mutation	Optic atrophy, Alopecia, Hypopigmentation of the skin, Fair hair, Vitiligo, Spina bifida, Develop...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Optic atrophy, Alopecia, Hypopigmentation of the skin, Fair hair, Vitiligo, Spina bifida, Develop...	ORPHA:363958
Neuromuscular Oculoauditory Syndrome	Sensory axonal neuropathy, Retinal pigment epithelial mottling, Decreased amplitude of sensory ac...	OMIM:618733
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Intrauterine growth retardation, Underdeveloped nasal alae, Aplasia/Hypoplasia of the optic nerve	ORPHA:423479
Congenital Myopathy 10B, Mild Variant	Respiratory failure	OMIM:620249
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Microphthalmia, Cyclopia, Holoprosencephaly	OMIM:264480
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory insufficiency due ...	OMIM:615512
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Developmental cataract, Microphthal...	ORPHA:2108
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Conjunctivitis, Cataract, Corneal scarring	OMIM:226600
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Bulbous nose, Depressed nasal bridge, Short nose	OMIM:617061
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure	ORPHA:3226
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Recurrent otitis media, Exocrine pancreatic insufficiency, Splenomegaly, Hepatome...	OMIM:618268
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Anteverted nares, Broad nasal tip, Short nose	OMIM:618529
Dowling-Degos Disease	Inguinal freckling, Hypermelanotic macule, Abnormal fingernail morphology, Mixed hypo- and hyperp...	ORPHA:79145
White-Sutton Syndrome	Blindness, Astigmatism, Hypermetropia, Myopia, Visual impairment, Iris coloboma	ORPHA:468678
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure, Hypoplasia of the pons	ORPHA:88618
Basal Cell Nevus Syndrome 1	Cataract, Iris coloboma, Microphthalmia	OMIM:109400
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Short nose	OMIM:617802
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Depressed nasal bridge, Neonatal respiratory distress, Wide nasal bridge, ...	OMIM:619479
Renal And Mullerian Duct Hypoplasia	Short nose	OMIM:266810
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Cataract, Hypopigmentation of the skin, Chorioretinal coloboma, Melanocytic nevus, Intrauterine g...	OMIM:619475
Teebi-Shaltout Syndrome	Low-set ears, Hypoplastic helices, Highly arched eyebrow, Low anterior hairline, Slow-growing hai...	OMIM:272950
Leukocyte Adhesion Deficiency Type Ii	Conductive hearing impairment, Recurrent otitis media, Long eyelashes, Low anterior hairline, Bro...	ORPHA:99843
Mucopolysaccharidosis Type 2	Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormality of retinal pigmentat...	ORPHA:580
47,Xyy Syndrome	Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydrocephalus	ORPHA:8
Oculodentodigital Dysplasia	Carious teeth, Abnormality of the nose, Underdeveloped nasal alae, Umbilical hernia, Abnormal den...	ORPHA:2710
Gaucher Disease, Perinatal Lethal	Low-set ears, Microtia	OMIM:608013
Coccidioidomycosis	Pneumonia, Folliculitis, Abnormality of the spleen, Morbilliform rash, Osteomyelitis, Abnormality...	ORPHA:228123
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Corneal crystals, Retinal pigment epithelia...	OMIM:219800
Mullegama-Klein-Martinez Syndrome	Low-set ears, High anterior hairline, Atresia of the external auditory canal, Absent stapes, Curl...	OMIM:301022
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Chromomycosis	Keratoconjunctivitis sicca, Keratitis, Hypopigmented skin patches	ORPHA:182
Marshall-Smith Syndrome	Choanal atresia, Anteverted nares, Short nose	ORPHA:561
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Broad nasal tip, Short nose, Abnormally large globe	OMIM:239300
Hydranencephaly	Dysgenesis of the thalamus, Atrophic pituitary gland, Thalamic edema, Optic nerve hypoplasia	ORPHA:2177
Bloom Syndrome	Uveitis, Hypopigmentation of the skin, Intrauterine growth retardation, Retinopathy, Sparse eyela...	ORPHA:125
Adrenoleukodystrophy	Blindness, Visual loss	OMIM:300100
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insu...	OMIM:137920
Fabry Disease	Cataract, Atrioventricular block, Congestive heart failure, Anorexia, Hypertrophic cardiomyopathy...	ORPHA:324
Joubert Syndrome 30	Molar tooth sign on MRI	OMIM:617622
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Broad nasal tip, Optic disc hypoplasia, Nasal congestion, Thick nasal alae...	ORPHA:79345
Joubert Syndrome 6	Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ...	OMIM:610688
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate	ORPHA:2736
Bohring-Opitz Syndrome	Optic atrophy, Hypertrichosis, Intrauterine growth retardation, Retinal atrophy, Coloboma, Synophrys	ORPHA:97297
Blau Syndrome	Cataract, Nongranulomatous uveitis, Band keratopathy, Iritis, Uveitis	OMIM:186580
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal thalamic MRI signal intensity	ORPHA:485421
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Low-set ears, Sparse hair, Microphthalmia, Microtia	OMIM:620005
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose	OMIM:614261
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Intrauterine growth retardation, Micrognathia, Broad columella, Underdeveloped nasal alae	ORPHA:166035
Porphyria Variegata	Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:79473
Spondylocarpotarsal Synostosis Syndrome	Cataract, Abnormality of retinal pigmentation	OMIM:272460
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Distichiasis	OMIM:600462
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wide nasal bridge, Anteverted nares, Short nose	OMIM:616897
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Decreased circulating luteinizing...	OMIM:619761
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentration, Hepatitis, Panc...	OMIM:610199
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Joubert Syndrome With Ocular Defect	Anteverted nares, Prominent nasal bridge, Encephalocele, Hydrocephalus, Molar tooth sign on MRI	ORPHA:220493
Sponastrime Dysplasia	Cataract, Intrauterine growth retardation, Microcoria, Congenital aphakia	ORPHA:93357
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Long...	OMIM:300912
Sarcoidosis	Diabetes insipidus, Parotitis, Enlargement of parotid gland, Abnormality of the adrenal glands, F...	ORPHA:797
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Hypopigmented skin patches	ORPHA:2875
Eec Syndrome	Sparse eyebrow, Coarse hair, Keratitis, Fine hair, Thick eyebrow, Nail dystrophy, Generalized hyp...	ORPHA:1896
Bardet-Biedl Syndrome 20	Constriction of peripheral visual field, Astigmatism, Hypermetropia, Nyctalopia, Hemeralopia	OMIM:619471
Faundes-Banka Syndrome	Low-set ears, Cupped ear, Conductive hearing impairment, Long ear, Hypoplastic toenails, Broad ey...	OMIM:619376
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis	ORPHA:449427
Myhre Syndrome	Low-set ears, Hearing impairment, Fine hair, Thick eyebrow, Microphthalmia, Sparse hair, Microtia	OMIM:139210
2Q37 Microdeletion Syndrome	Depressed nasal bridge, Broad columella, Underdeveloped nasal alae, Umbilical hernia, Anteverted ...	ORPHA:1001
Full Nf2-Related Schwannomatosis	Diplopia, Posterior subcapsular cataract, Blindness, Visual loss, Reduced visual acuity, Amblyopi...	ORPHA:637
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose	OMIM:618087
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Long eyelashes, Telecanthus, Abnormality of retinal pigmentation, Epicanthus, Conj...	ORPHA:505248
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Non-Functioning Pituitary Adenoma	Diplopia, Sudden loss of visual acuity, Blindness, Progressive visual loss, Hemianopia, Heteronym...	ORPHA:91349
Cranioectodermal Dysplasia 4	Visual impairment, Hypermetropia, Nyctalopia	OMIM:614378
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Low hanging columella, Broad nasal tip, Underdeveloped nasal alae	ORPHA:404473
Granulomatosis With Polyangiitis	Otitis media, Intestinal obstruction, Skin rash, Increased inflammatory response, Prostatitis, Pa...	ORPHA:900
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Long philtrum, Cleft upper lip, Ectopic anus, Esophageal atresia, Bifid tongue, An...	ORPHA:93271
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Corneal opacity	OMIM:620519
Opitz-Kaveggia Syndrome	Microtia, first degree, Fine hair, Frontal upsweep of hair, Sensorineural hearing impairment, Sim...	OMIM:305450
Microform Holoprosencephaly	Choanal atresia, Narrow nasal bridge, Anteverted nares, Midnasal stenosis, Short nose	ORPHA:280200
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia...	ORPHA:163746
Mucolipidosis Iii Alpha/Beta	Retinopathy, Opacification of the corneal stroma, Hyperopic astigmatism, Retinal degeneration	OMIM:252600
Xfe Progeroid Syndrome	Corneal scarring, Visual impairment, Blindness	OMIM:610965
Intellectual Disability And Myopathy Syndrome	Spotty hypopigmentation, Cafe-au-lait spot	OMIM:619719
Meier-Gorlin Syndrome 1	Low-set ears, Atresia of the external auditory canal, Hearing impairment, Breast hypoplasia, Long...	OMIM:224690
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypopigmentation of the skin, Umbilical hernia, Myopic astigmatism, Synophrys	OMIM:301066
Mucopolysaccharidosis Type 1	Optic atrophy, Retinopathy, Corneal opacity	ORPHA:579
Infant Acute Respiratory Distress Syndrome	Respiratory failure	ORPHA:70587
Aceruloplasminemia	Diabetes mellitus, Elevated hepatic iron concentration, Abnormal pancreas morphology	ORPHA:48818
Behçet Disease	Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis, Increased inflammatory resp...	ORPHA:117
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Short nose	OMIM:608776
Mucopolysaccharidosis, Type Ii	Ptosis, Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Fetal Hydantoin Syndrome	Depressed nasal ridge, Short nose	ORPHA:1912
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:613845
Muscular Dystrophy, Duchenne Type	Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:310200
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Prominent nasal tip, Prominent nose, Short nose	ORPHA:439822
Familial Hypocalciuric Hypercalcemia	Lipoma, Peptic ulcer, Pancreatitis	ORPHA:405
Magel2-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Smith-Kingsmore Syndrome	Depressed nasal bridge, Short nose	OMIM:616638
Werner Syndrome	Cataract, Alopecia of scalp, Retinal degeneration	OMIM:277700
Acrodysostosis	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:950
Fraser Syndrome 2	Wide nose, Respiratory failure, Underdeveloped nasal alae, Microphthalmia	OMIM:617666
Microcephaly-Micromelia Syndrome	Neonatal death, Aqueductal stenosis, Intrauterine growth retardation, Microphthalmia	OMIM:251230
Cinca Syndrome	Visual impairment, Blindness	ORPHA:1451
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529799
Joubert Syndrome 38	Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat...	OMIM:619476
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Reduced visual acuity, Iris transillumination defect, Ocular albinism	OMIM:614074
16P12.1P12.3 Triplication Syndrome	Bulbous nose, Short nose	ORPHA:485405
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Prominent nasal bridge, Short nose	OMIM:619179
Schneckenbecken Dysplasia	Short nose, Stillbirth	OMIM:269250
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:819
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin, Optic neuropathy	OMIM:620237
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis	OMIM:242670
Meckel Syndrome, Type 10	Occipital encephalocele, Molar tooth sign on MRI, Anencephaly	OMIM:614175
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle weakness	OMIM:220110
Meier-Gorlin Syndrome 6	Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Underdeveloped nasal alae, Umbi...	OMIM:616835
De Barsy Syndrome	Cataract, Corneal opacity	ORPHA:2962
Ear-Patella-Short Stature Syndrome	Low-set ears, Abnormality of the outer ear, Microtia, third degree, Atresia of the external audit...	ORPHA:2554
Ebola Hemorrhagic Fever	Maculopapular exanthema, Acute pancreatitis, Hepatitis	ORPHA:319218
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Low-set ears, Microtia	OMIM:613603
Dysbetalipoproteinemia	Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Acute pancreatitis	ORPHA:412
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly, Abnormal toenail morphology	ORPHA:2211
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Oral-pharyngeal dyspha...	OMIM:615273
Severe X-Linked Intellectual Disability, Gustavson Type	Blindness	ORPHA:3078
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ...	ORPHA:1969
Prolactinoma	Diplopia, Sudden loss of visual acuity, Blindness, Progressive visual loss, Hemianopia, Heteronym...	ORPHA:2965
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Respiratory insufficiency, Pontocerebellar atrophy, Intercostal muscle weakness, Respiratory fail...	ORPHA:258
Toxic Epidermal Necrolysis	Conjunctivitis, Tracheoesophageal fistula, Pancreatitis, Intestinal perforation	ORPHA:537
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Holoprosencephaly, Abnormality of the diencephalon	ORPHA:2570
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Retrognathia, Umbilical hernia, Underdeveloped nasal alae, Bulbous ...	OMIM:192430
Wolf-Hirschhorn Syndrome	Highly arched eyebrow, High anterior hairline, Hearing impairment, Low-set, posteriorly rotated e...	ORPHA:280
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis	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, Alopecia, Intrauterine growth retardation, Hydrocephalus, Generalized hypopigmenta...	OMIM:619321
Epidermolysis Bullosa Simplex With Pyloric Atresia	Scarring alopecia of scalp, Nail dystrophy, Microtia	ORPHA:158684
Ruvalcaba Syndrome	Convex nasal ridge, Short nose	ORPHA:3121
3C Syndrome	Wide nasal bridge, Depressed nasal bridge, Death in infancy, Short nose	ORPHA:7
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae	OMIM:608624
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Posteriorly rotated ears, Microphthalmia	OMIM:241410
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Abnormality of globe size, Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Roberts-Sc Phocomelia Syndrome	Wide nasal bridge, Stillbirth, Underdeveloped nasal alae, Narrow naris, Microphthalmia	OMIM:268300
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Short nose	ORPHA:93258
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Respiratory failure, Intercostal muscle weakness, Respiratory insu...	ORPHA:70
Brain Malformations With Or Without Urinary Tract Defects	Anteverted nares, Short nose	OMIM:613735
Dend Syndrome	Anteverted nares, Short nose	ORPHA:79134
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Prominent nose, Narrow nasal ridge, Short nose	ORPHA:363528
Au-Kline Syndrome	Bifid uvula, Bifid nasal tip, Dental malocclusion, Retrognathia, Underdeveloped nasal alae, Promi...	OMIM:616580
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Cafe-au-lait spot, Encephalocele, Microphthalmia	OMIM:619148
Van Den Ende-Gupta Syndrome	High, narrow palate, Depressed nasal bridge, Hypoplasia of the maxilla, Underdeveloped nasal alae...	OMIM:600920
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Short nose	OMIM:277450
Antley-Bixler Syndrome	Choanal atresia, Anteverted nares, Short nose	ORPHA:83
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Short nose	OMIM:617877
Faciodigitogenital Syndrome, Autosomal Recessive	Widow's peak, Posteriorly rotated ears, Hearing impairment, Microtia	OMIM:227330
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Buphthalmos, Short nose	OMIM:618005
Meier-Gorlin Syndrome 7	Low-set ears, Hearing impairment, Breast aplasia, Thin eyebrow, Sensorineural hearing impairment,...	OMIM:617063
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Surfactant Metabolism Dysfunction, Pulmonary, 3	Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death	OMIM:610921
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Papilledema, Abnormal foveal mor...	ORPHA:217085
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia	OMIM:211890
Joubert Syndrome 1	Hypoplasia of the brainstem, Brainstem dysplasia, Anteverted nares, Occipital myelomeningocele, E...	OMIM:213300
Ataxia-Telangiectasia	Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair	ORPHA:100
Stevens-Johnson Syndrome	Conjunctivitis, Pancreatitis, Esophageal stricture	ORPHA:36426
Congenital Multicore Myopathy With External Ophthalmoplegia	Respiratory failure	ORPHA:98905
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy, Ptosis	ORPHA:436271
Severe Congenital Nemaline Myopathy	Respiratory failure	ORPHA:171430
Kabuki Syndrome	Highly arched eyebrow, Microcornea, Sparse lateral eyebrow, Long eyelashes, Coloboma, Hydrocephalus	ORPHA:2322
Mucopolysaccharidosis, Type Vii	Corneal opacity	OMIM:253220
Rubinstein-Taybi Syndrome 1	Cataract, Facial hypertrichosis, Highly arched eyebrow, Long eyelashes, Thick eyebrow, Frontal up...	OMIM:180849
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Abnormal salivary gland morphology, Optic neuropathy, Enlarg...	OMIM:181000
Achondrogenesis, Type Ia	Depressed nasal bridge, Hypoplastic nasal bridge, Anteverted nares, Stillbirth, Short nose	OMIM:200600
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Short nose	OMIM:619833
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Depressed nasal bridge, Anteverted nares, Respiratory failure	ORPHA:254528
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Conductive hearing impairment, Overfolded helix, Posteriorly rotated ears, Microtia	OMIM:300373
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Depressed nasal bridge, Long nose, Retrognathia, Underdeveloped nasal alae	ORPHA:457351
Leiomyomatosis, Diffuse, With Alport Syndrome	Cataract, Anterior lenticonus, Lenticonus	OMIM:308940
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Blindness	ORPHA:713
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Broad nasal tip, Short nose	OMIM:614749
Desbuquois Dysplasia 1	Concave nasal ridge, Depressed nasal bridge, Short nose	OMIM:251450
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Keratoconjunctivitis sicca, Corneal opacity, Buphthalmos, Corneal dystrophy, Optic nerve hypoplasia	ORPHA:495875
Pontocerebellar Hypoplasia, Type 2E	Short nose, Wide nose	OMIM:615851
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Wide nasal bridge, Hypoplasia of the pons, Hypoplasia of the brains...	ORPHA:444072
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Papilledema, Abnormal foveal mor...	ORPHA:217093
Orofaciodigital Syndrome I	Wide nasal bridge, Carious teeth, Microretrognathia, Underdeveloped nasal alae, Hamartoma of tong...	OMIM:311200
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Radio-Renal Syndrome	Depressed nasal bridge, Respiratory failure, Convex nasal ridge	ORPHA:3015
Alstrom Syndrome	Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Subcapsula...	OMIM:203800
Spinocerebellar Ataxia Type 7	Blindness, Visual loss, Reduced visual acuity, Photophobia, Hemeralopia	ORPHA:94147
Laurin-Sandrow Syndrome	Depressed nasal ridge, Abnormality of the nose, Underdeveloped nasal alae, Prominent nose, Short ...	ORPHA:2378
Mucopolysaccharidosis, Type Vi	Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral stenosis, Mitral regurgitation...	OMIM:253200
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later...	OMIM:205100
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:314655
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Blindness	ORPHA:95433
Hurler Syndrome	Cardiomyopathy, Splenomegaly, Angina pectoris, Corneal opacity, Hepatomegaly, Hypertension	ORPHA:93473
Holoprosencephaly-Postaxial Polydactyly Syndrome	Umbilical hernia, Encephalocele, Hydrocephalus, Microphthalmia, Cyclopia, Holoprosencephaly	ORPHA:2166
Bloom Syndrome	Hypopigmentation of the skin, Hypertrichosis, Intrauterine growth retardation, Spotty hypopigment...	OMIM:210900
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Molar tooth sign on MRI	OMIM:617563
Ciliary Dyskinesia, Primary, 19	Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:614935
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Short nose, Optic nerve hypoplasia	ORPHA:357001
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory failure	ORPHA:2707
Toluene Embryopathy	Short nose	ORPHA:1920
Galloway-Mowat Syndrome	Hypoplasia of the ear cartilage, Macrotia	ORPHA:2065
Asbestos Intoxication	Respiratory failure	ORPHA:2302
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Pancreatitis, High palate, Narrow palate	OMIM:620371
Fibrochondrogenesis 1	Depressed nasal bridge, Anteverted nares, Short nose, Stillbirth	OMIM:228520
Thauvin-Robinet-Faivre Syndrome	Retinal coloboma, Sensorineural hearing impairment, Protruding ear, Coloboma, Macrotia	OMIM:617107
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Wide nasal bridge, Retrognathia, Underdeveloped nasal alae, Intrauterine growth retardation, Prom...	ORPHA:2637
Tay-Sachs Disease	Blindness	OMIM:272800
Distal Deletion 12Q	Low-set ears, Bilateral conductive hearing impairment, Small nail, Fine hair, Prominent ear helix...	ORPHA:96149
Kearns-Sayre Syndrome	Pigmentary retinopathy, Ptosis	OMIM:530000
Infantile Neuroaxonal Dystrophy	Blindness	ORPHA:35069
Tangier Disease	Corneal opacity	ORPHA:31150
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hypopigmentation of the skin, Loss of eyelashes, Keratoconjunctivitis, Hyp...	ORPHA:79277
Van Esch-O'Driscoll Syndrome	Protruding ear, Hypogonadotropic hypogonadism, Microtia	OMIM:301030
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Depressed nasal bridge, Dilated third ventricle, Occipital encephalocele, Elongated superior cere...	ORPHA:397715
Plasminogen Deficiency, Type I	Conjunctivitis, Blindness	OMIM:217090
Charge Syndrome	Low-set ears, Cupped ear, Retinal coloboma, Aplasia of the semicircular canal, Unilateral microph...	OMIM:214800
Scedosporiosis	Respiratory failure	ORPHA:449280
Adenylosuccinase Deficiency	Anteverted nares, Short nose	OMIM:103050
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Short nose	OMIM:605309
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Intrauterine growth retardation, Coloboma, Branchial anomaly	ORPHA:453499
Moebius Syndrome	Corneal opacity	ORPHA:570
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Optic disc coloboma, Megalocornea, Corneal opacity, Iris coloboma...	ORPHA:536471
Lethal Ataxia With Deafness And Optic Atrophy	Visual impairment, Blindness	ORPHA:1187
Malan Syndrome	Short nose	OMIM:614753
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Pancreatitis, Myocarditis, Septic arthritis, Acute colitis, Intestinal perforation, In...	ORPHA:544482
Encephalocraniocutaneous Lipomatosis	Iris coloboma, Retinopathy, Corneal opacity	ORPHA:2396
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h...	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, Xerostomia, Facial palsy	ORPHA:90340
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:615398
Staphylococcal Necrotizing Pneumonia	Respiratory failure	ORPHA:36238
Infantile Krabbe Disease	Photophobia, Blindness, Visual loss	ORPHA:206436
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Highly arched eyebrow, Hearing impairment, Microtia	ORPHA:2282
Fanconi Anemia, Complementation Group N	Hyperpigmentation of the skin, Cafe-au-lait spot, Microphthalmia	OMIM:610832
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Depressed nasal bridge, Recurrent upper respiratory tract infection...	ORPHA:293987
Ablepharon-Macrostomia Syndrome	Low-set ears, Microtia, first degree, Microtia, third degree, Hearing impairment, Hypoplastic fin...	OMIM:200110
Kagami-Ogata Syndrome	Frontal hirsutism, Microtia	ORPHA:254519
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormal conus terminalis morphology, Thalamic hemorrhage	ORPHA:464321
Pantothenate Kinase-Associated Neurodegeneration	Blindness, Peripheral visual field loss, Visual field defect, Nyctalopia, Visual impairment	ORPHA:157850
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Choanal atresia, Branchial fistula, Underdeveloped nasal alae, Ankyloglossia...	ORPHA:261330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cataract, Microcornea, Optic atrophy, Ectopia pupillae, Retinal coloboma, Abnormal pupil morpholo...	ORPHA:261552
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormal optic nerve morphology, Supernumerary nipple, Branchial anomaly, Coloboma, Optic nerve h...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormal optic nerve morphology, Supernumerary nipple, Branchial anomaly, Coloboma, Optic nerve h...	ORPHA:352665
Car T Cell Therapy-Associated Cytokine Release Syndrome	Respiratory failure	ORPHA:542323
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Dystrophic toenail, Hypopigmented skin patches, Nail dystrophy, Kera...	ORPHA:2907
Degcags Syndrome	Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol...	OMIM:619488
Acute Interstitial Pneumonia	Respiratory failure	ORPHA:79126
Cutis Laxa, Autosomal Recessive, Type Iiib	Narrow nasal ridge, Intrauterine growth retardation, Underdeveloped nasal alae, Pyloric stenosis	OMIM:614438
Tetrasomy 5P	Wide nasal bridge, Anteverted nares, Short nose	ORPHA:3309
Cartilage-Hair Hypoplasia	Sparse eyebrow, Spinal dysraphism, Abnormality of retinal pigmentation, Sparse hair, Aplasia/Hypo...	ORPHA:175
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Hearing impairment, Small nail, Long eyelashes, Melanocytic nevus, Nail dysplasia, ...	OMIM:268310
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes	OMIM:609136
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Retinal detachment, Astigmatism, Corneal opacity	ORPHA:464311
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:617822
Autoimmune Polyendocrine Syndrome, Type Ii	Keratoconjunctivitis, Band keratopathy, Cataract	OMIM:269200
Mandibuloacral Dysplasia With Type B Lipodystrophy	Narrow nasal ridge, Death in early adulthood, Short nose	OMIM:608612
Orofaciodigital Syndrome Type 6	Broad nasal tip, Hypothalamic hamartoma, Molar tooth sign on MRI, Prominent nasal bridge	ORPHA:2754
Combined Oxidative Phosphorylation Deficiency 3	Respiratory failure, Death in childhood, Death in infancy, Respiratory insufficiency	OMIM:610505
Opsismodysplasia	Depressed nasal bridge, Short nose	ORPHA:2746
Diaphanospondylodysostosis	Depressed nasal bridge, Depressed nasal ridge, Short nose	OMIM:608022
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:560
Aarskog-Scott Syndrome	Wide nasal bridge, Anteverted nares, Short nose	OMIM:305400
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
Localized Scleroderma	Hypopigmented skin patches, Abnormal skin adnexa morphology, Vitiligo, Patchy alopecia, Hyperpigm...	ORPHA:90289
Alpha-Mannosidosis, Infantile Form	Cataract, Astigmatism, Corneal opacity	ORPHA:309282
Fanconi Anemia, Complementation Group A	Hearing impairment, Male infertility, Abnormality of skin pigmentation, Microphthalmia, Cafe-au-l...	OMIM:227650
Neonatal Marfan Syndrome	Iridodonesis, Ectopia lentis, Megalocornea	ORPHA:284979
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nyctalopia	OMIM:615630
Pauci-Immune Glomerulonephritis	Arteritis, Scleritis, Pancreatitis, Glomerulonephritis, Tubulointerstitial nephritis, Crescentic ...	ORPHA:93126
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory failure, Death in childhood, Death in infancy	OMIM:620278
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Broad nasal tip, Short nose	OMIM:614207
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Respiratory failure	ORPHA:3240
Melas	Hypoparathyroidism, Recurrent pancreatitis, Hypothyroidism, Intestinal pseudo-obstruction	ORPHA:550
Temtamy Preaxial Brachydactyly Syndrome	Abnormally large globe, Short nose	ORPHA:363417
Jaberi-Elahi Syndrome	Depressed nasal bridge, Short nose	OMIM:617988
Tay-Sachs Disease	Abnormal thalamic MRI signal intensity	ORPHA:845
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Jaundice, Acute pancreatitis, Lipid accumulation in hepatocytes	ORPHA:20
Mednik Syndrome	Cataract, Death in childhood, Death in infancy, Neonatal death	OMIM:609313
Raine Syndrome	Depressed nasal bridge, Choanal atresia, Death in infancy, Neonatal death, Choanal stenosis, Shor...	OMIM:259775
Microphthalmia, Syndromic 1	Microcornea, Chorioretinal coloboma, Optic disc coloboma, Ciliary body coloboma, Anophthalmia, Mi...	OMIM:309800
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:496641
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Respiratory insufficiency	ORPHA:746
Saul-Wilson Syndrome	Cataract, Nyctalopia	OMIM:618150
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology	OMIM:601162
Tbck-Related Intellectual Disability Syndrome	Corneal opacity	ORPHA:488632
Marden-Walker Syndrome	Epicanthus, Ptosis, Blepharophimosis, Microphthalmia	OMIM:248700
Osteopetrosis, Autosomal Recessive 2	Blindness	OMIM:259710
Neu-Laxova Syndrome 1	Cataract, Hydranencephaly, Stillbirth, Pterygium, Small placenta, Intrauterine growth retardation...	OMIM:256520
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Mandibular prognathia, Short nose	OMIM:616007
Holoprosencephaly 2	Alobar holoprosencephaly, Semilobar holoprosencephaly, Chorioretinal coloboma, Remnants of the hy...	OMIM:157170
Primrose Syndrome	Posterior polar cataract	OMIM:259050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Aplasia/Hypoplasia of the nails, Posteriorly rotated ears, Microtia	ORPHA:163979
Immunodeficiency 13	Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent sinusitis	OMIM:615518
Asparagine Synthetase Deficiency	Blindness, Cerebral visual impairment, Optic nerve hypoplasia	OMIM:615574
Witteveen-Kolk Syndrome	Cataract, Anisocoria, Iris coloboma, Microphthalmia	OMIM:613406
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Diarrhea 10, Protein-Losing Enteropathy Type	Coloboma, Death in infancy	OMIM:618183
Nijmegen Breakage Syndrome	Progressive vitiligo, Retinal pigment epithelial mottling, Upslanted palpebral fissure, Conjuncti...	OMIM:251260
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure	OMIM:620327
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Short nose	OMIM:219200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Depressed nasal bridge, Anteverted nares, Death in infancy, Abnormal pons morphology, Respiratory...	OMIM:300868
Craniofacioskeletal Syndrome	Posteriorly rotated ears, Microtia	OMIM:300712
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Absent outer dynein arms, Nasal congestion	OMIM:616037
Ciliary Dyskinesia, Primary, 22	Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:615444
Lathosterolosis	Cataract, Microcornea, Opacification of the corneal stroma	ORPHA:46059
Thalidomide Embryopathy	Abnormality of the outer ear, Anotia, Hearing impairment	ORPHA:3312
Fanconi Anemia, Complementation Group E	Hyperpigmentation of the skin, Cafe-au-lait spot, Microphthalmia	OMIM:600901
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Senior-Loken Syndrome 3	Congenital blindness, Visual loss	OMIM:606995
Mercury Poisoning	Respiratory failure	ORPHA:330021
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Wide nasal bridge, Anteverted nares, Short nose	OMIM:614701
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Narrow nasal ridge, Micrognathia, Retrognathia, Underdeveloped nasal alae	OMIM:618343
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Symblepharon, Trichiasis, Hypopigmentation of the skin, Keratitis, Nail dystrophy, Chemosis, Conj...	ORPHA:95455
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Seckel Syndrome 10	Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated circulating follicle...	OMIM:617253
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Long nose, Short nose	OMIM:618590
Mccune-Albright Syndrome	Blindness	OMIM:174800
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Hyperpigmentation of the skin, Cafe-au-lait spot, Microphthalmia	OMIM:227645
Laurin-Sandrow Syndrome	Underdeveloped nasal alae	OMIM:135750
Orofaciodigital Syndrome Vi	Broad nasal tip, Hypothalamic hamartoma, Occipital meningocele, Molar tooth sign on MRI	OMIM:277170
X-Linked Intellectual Disability, Nascimento Type	Abnormal hair whorl, Lumbar hypertrichosis, Nail dystrophy, Low posterior hairline, Generalized h...	ORPHA:163956
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa...	OMIM:616263
Distal Deletion 10Q	Wide nasal bridge, Prominent nose, Prominent nasal bridge, Short nose	ORPHA:96148
Lysinuric Protein Intolerance	Hepatic amyloidosis, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, H...	ORPHA:470
Neurocardiofaciodigital Syndrome	Sclerocornea, Cataract	OMIM:619869
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Coloboma	ORPHA:47159
Cenani-Lenz Syndrome	Convex nasal ridge, Short nose	ORPHA:3258
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Short nose	ORPHA:93259
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Hypoplasia of the brainstem, Occipital meningocele, Hydrocephalus, Molar ...	OMIM:616546
Peutz-Jeghers Syndrome	Nasal polyposis, Intestinal bleeding, Labial melanotic macule, Neoplasm of the pancreas, Ovarian ...	OMIM:175200
Arterial Tortuosity Syndrome	Cardiorespiratory arrest, Respiratory failure, Short nose	ORPHA:3342
Turnpenny-Fry Syndrome	Low-set ears, Conductive hearing impairment, Melanocytic nevus, Satyr ear, Sparse scalp hair, Mic...	OMIM:618371
Momo Syndrome	Blindness	OMIM:157980
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Low-set ears, Microtia, Conductive hearing impairment, Sensorineural hearing impairment	OMIM:618500
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Kikuchi-Fujimoto Disease	Enlargement of parotid gland, Oral ulcer	ORPHA:50918
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Intrauterine growth r...	ORPHA:79282
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Sparse body hair, Abnormal fingernail morphology, Hypertrichosis, Nai...	ORPHA:678
Fetal And Neonatal Alloimmune Thrombocytopenia	Blindness	ORPHA:853
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Pearson Syndrome	Cataract, Pigmentary retinopathy, Corneal stromal edema, Hyperpigmentation of the skin, Ptosis, C...	ORPHA:699
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Abnormal hypothalamus morphology,...	ORPHA:54595
Wilson Disease	Sunflower cataract, Hepatic failure, Portal fibrosis, Kayser-Fleischer ring, Acute hepatic failur...	OMIM:277900
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Dyskeratosis Congenita, X-Linked	Cataract, Optic atrophy, Alopecia, Premature graying of hair, Pterygium, Pterygium of nails, Intr...	OMIM:305000
Menke-Hennekam Syndrome 1	Low-set ears, Hearing impairment, Prominent inferior crus of antihelix, Short ear, Long eyelashes...	OMIM:618332
Meckel Syndrome 14	Tricuspid regurgitation, Hepatic fibrosis, Mitral regurgitation, Microphthalmia	OMIM:619879
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	Cataract, Retinal nonattachment, Irregular hyperpigmentation, Central heterochromia, Chorioretina...	ORPHA:744
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Narrow nose, Anteverted nares, Prominent...	OMIM:618454
Syndromic Diarrhea	Trichorrhexis nodosa, Intrauterine growth retardation, Uncombable hair, Generalized hypopigmentat...	ORPHA:84064
8P23.1 Microdeletion Syndrome	Wide nasal bridge, Prominent nasal bridge, Short nose	ORPHA:251071
Nijmegen Breakage Syndrome	Depressed nasal bridge, Prominent nose, Prominent nasal bridge, Convex nasal ridge, Respiratory f...	ORPHA:647
Oculoectodermal Syndrome	Microcornea, Chorioretinal atrophy, Astigmatism, Opacification of the corneal stroma, Limbal dermoid	OMIM:600268
Lynch Syndrome	Pituitary adenoma, Pancreatic adenocarcinoma, Death in early adulthood, Intestinal polyposis, Sal...	ORPHA:144
Aica-Ribosiduria Due To Atic Deficiency	Congenital blindness	OMIM:608688
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Optic nerve hypoplasia, Hearing impairment, Hirsutism, Chordee, Microtia, Synophrys	OMIM:620455
Microlissencephaly-Micromelia Syndrome	Short nose	ORPHA:50810
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Death in childhood, Convex nasal ridge, Short nose	OMIM:300661
Ciliary Dyskinesia, Primary, 35	Nasal polyposis, Chronic rhinitis	OMIM:617092
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Micrognathia, Broad columella, Underdeveloped nasal alae	OMIM:250410
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Recurrent sinusitis	OMIM:620197
Saethre-Chotzen Syndrome	Low-set ears, Hearing impairment, Prominent crus of helix, Low anterior hairline, Buphthalmos, Mi...	OMIM:101400
C Syndrome	Wide nasal bridge, Anteverted nares, Short nose	OMIM:211750
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Lowry-Wood Syndrome	Intrauterine growth retardation, Pigmentary retinopathy	OMIM:226960
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperactivity, Anorexia, Hepatomegaly	OMIM:207800
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Astigmatism, Hyperactivity, Corneal opacity, Motor s...	ORPHA:464306
Restrictive Dermopathy	Choanal atresia, Microcolon, Natal tooth, Aplasia/Hypoplasia involving the nose, Temporomandibula...	ORPHA:1662
Orofaciodigital Syndrome Type 4	Low-set ears, Abnormality of the outer ear, Absent crus of helix, Microtia, third degree, Conduct...	ORPHA:2753
Roberts Syndrome	Cataract, Microphthalmia	ORPHA:3103
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Short nose	ORPHA:93260
1P36 Deletion Syndrome	Conductive hearing impairment, Horizontal eyebrow, Ocular albinism, Low-set, posteriorly rotated ...	ORPHA:1606
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:217980
Kindler Syndrome	Symblepharon, Spotty hyperpigmentation, Ridged nail, Spotty hypopigmentation, Corneal erosion	OMIM:173650
Holoprosencephaly-Caudal Dysgenesis Syndrome	Holoprosencephaly, Abnormality of the diencephalon	ORPHA:2165
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Anteverted nares, Broad nasal tip, Prominent nasolabial fold, Short nose	ORPHA:357074
Acrocallosal Syndrome	Optic atrophy, Coloboma, Hypopigmentation of the fundus, Umbilical hernia	OMIM:200990
Peho Syndrome	Anteverted nares, Short nose	ORPHA:2836
Distal Duplication 5Q	Prominent nasal bridge, Short nose	ORPHA:96097
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Conductive hearing impairment, Hearing impairment, Optic disc coloboma, Horizontal ...	OMIM:607872
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Decreased thalamic volume	ORPHA:168577
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Lowe Oculocerebrorenal Syndrome	Dense posterior cortical cataract, Corneal scarring, Developmental cataract, Microphthalmia	OMIM:309000
Robinow Syndrome, Autosomal Dominant 2	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:616331
Carpenter Syndrome 1	Microcornea, Opacification of the corneal stroma	OMIM:201000
Schimke Immunoosseous Dysplasia	Opacification of the corneal stroma, Astigmatism	OMIM:242900
Gm2-Gangliosidosis, Ab Variant	Blindness	OMIM:272750
Chime Syndrome	Retinal coloboma, Corneal opacity	ORPHA:3474
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:261236
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Otopalatodigital Syndrome, Type I	Wide nasal bridge, Short nose	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	Hearing impairment, Chorioretinal coloboma, Abnormal tragus morphology, Microphthalmia, Overfolde...	ORPHA:857
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Short nose, Wide nose	OMIM:608779
X-Linked Cerebral Adrenoleukodystrophy	Reduced visual acuity, Blindness	ORPHA:139396
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Crimean-Congo Hemorrhagic Fever	Conjunctivitis, Parotitis, Morbilliform rash, Adrenal insufficiency, Cholecystitis, Splenomegaly,...	ORPHA:99827
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Annular pancreas	OMIM:618162
Atelosteogenesis, Type I	Depressed nasal bridge, Stillbirth, Short nose, Neonatal death	OMIM:108720
Galloway-Mowat Syndrome 3	Visual impairment, Microphthalmia	OMIM:617729
Limb Body Wall Complex	Myelomeningocele, Encephalocele, Anencephaly, Hydrocephalus, Spina bifida, Corneal opacity, Lens ...	ORPHA:2369
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Pancreatitis, Splenomegaly	ORPHA:565612
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:96180
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis	OMIM:613808
Hemihyperplasia-Multiple Lipomatosis Syndrome	Microtia	ORPHA:276280
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Orofaciodigital Syndrome Type 1	Wide nasal bridge, Choanal atresia, Hypoplasia of the zygomatic bone, Underdeveloped nasal alae, ...	ORPHA:2750
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Short nose	ORPHA:1812
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Microcornea, Blindness, Myopia	OMIM:225400
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Hypoplasia of the maxilla, Underdeveloped nasal alae, Taurodontia, Rhinit...	OMIM:305100
Molybdenum Cofactor Deficiency, Type B	Short nose, Neonatal death	OMIM:252160
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Absent inner and outer dynein arms	OMIM:606763
Brain-Lung-Thyroid Syndrome	Neonatal respiratory distress, Respiratory failure	ORPHA:209905
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal temper tantrums, Cholelithiasis, Hepatic fibrosis, Abnormality of the spleen, Hepatosple...	ORPHA:2072
Sandhoff Disease	Blindness	OMIM:268800
Craniofacial Microsomia 1	Occipital encephalocele, Cleft upper lip, Branchial anomaly, Anophthalmia, Microphthalmia, Wide m...	OMIM:164210
3-Methylglutaconic Aciduria, Type Viii	Respiratory arrest, Respiratory failure, Death in infancy, Neonatal death	OMIM:617248
White-Kernohan Syndrome	Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Anteriorly placed anus, Antevert...	OMIM:619426
Larsen Syndrome	Corneal opacity	OMIM:150250
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Fatigable weakness o...	ORPHA:365
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Bulbous nose, Short nose	OMIM:614114
Multiple Synostoses Syndrome 1	Wide nasal bridge, Hypoplastic nasal septum, Underdeveloped nasal alae	OMIM:186500
Toriello-Carey Syndrome	Low-set ears, Sparse eyebrow, Hearing impairment, Anotia, Thickened helices, Abnormal pinna morph...	ORPHA:3338
Juvenile Nephropathic Cystinosis	Abnormal cornea morphology, Corneal crystals, Hypovolemia	ORPHA:411634
Bcard Syndrome	Anteverted nares, Short nose	OMIM:612394
Lipodystrophy, Familial Partial, Type 7	Cataract, Pigmentary retinopathy, Orthostatic hypotension, Developmental cataract	OMIM:606721
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Short nose	ORPHA:96147
Cerebrofaciothoracic Dysplasia	Short nose, Wide nose	ORPHA:1394
Alg9-Cdg	Bifid uvula, Depressed nasal bridge, Microretrognathia, Underdeveloped nasal alae, Villous atroph...	ORPHA:79328
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:222700
Mosaic Variegated Aneuploidy Syndrome 1	Depressed nasal bridge, Anteverted nares, Short nose, Wide nose	OMIM:257300
Carey-Fineman-Ziter Syndrome	Anteverted nares, Short nose	ORPHA:1358
Bone Marrow Failure Syndrome 3	Hyperechogenic pancreas, Pancreatic steatosis, Exocrine pancreatic insufficiency, Cryptorchidism	OMIM:617052
Fryns Syndrome	Opacification of the corneal stroma, Microphthalmia	OMIM:229850
Congenital Tricuspid Valve Dysplasia	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:555874
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Cataract, Coloboma, Retinopathy, Pilomatrixoma	ORPHA:353281
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Splenomegaly, Cirrhosis, Pulmonar...	ORPHA:355
Tsh-Secreting Pituitary Adenoma	Diplopia, Sudden loss of visual acuity, Blindness, Abnormal visual field test, Progressive visual...	ORPHA:91347
Lathosterolosis	Prominent nasal tip, Anteverted nares, Short nose	OMIM:607330
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:252010
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Low-set ears, Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse hair, Sparse scalp hair, Microtia	OMIM:210710
Mhc Class I Deficiency 1	Nasal polyposis	OMIM:604571
Townes-Brocks Syndrome 1	Stahl ear, Chorioretinal coloboma, Lop ear, Satyr ear, Sensorineural hearing impairment, Overfold...	OMIM:107480
Desmosterolosis	Depressed nasal bridge, Abnormality of the nose, Short nose	ORPHA:35107
Kindler Epidermolysis Bullosa	Conjunctivitis, Corneal opacity	ORPHA:2908
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Thick hair	OMIM:617675
Listeriosis	Respiratory failure, Miscarriage, Abnormal brainstem MRI signal intensity	ORPHA:533
Rothmund-Thomson Syndrome, Type 3	Sparse eyebrow, Spotty hyperpigmentation, Death in infancy, Spotty hypopigmentation, Sparse scalp...	OMIM:615789
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Bifid uvula, Optic nerve hypoplasia, Underdeveloped nasal alae, High palate, Wide nose	OMIM:617506
Riddle Syndrome	Neonatal asphyxia, Respiratory failure, Recurrent sinusitis	ORPHA:420741
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:258480
Marburg Hemorrhagic Fever	Uveitis, Skin rash, Orchitis, Pancreatitis, Arthritis, Jaundice, Maculopapular exanthema, Pericar...	ORPHA:99826
Fanconi Anemia, Complementation Group D2	Cafe-au-lait spot, Hydrocephalus, Abnormality of skin pigmentation, Microphthalmia	OMIM:227646
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory failure, Respiratory insufficiency	OMIM:610913
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Feingold Syndrome	Abnormality of the spleen, Annular pancreas	ORPHA:1305
Stuve-Wiedemann Syndrome 1	Wide nasal base, Anteverted nares, Death in infancy, Low hanging columella, Short nose	OMIM:601559
Cowden Syndrome	Cataract, Hypopigmented skin patches, Melanocytic nevus, Conjunctival hamartoma, Multiple cafe-au...	ORPHA:201
Diamond-Blackfan Anemia	Low-set ears, Low anterior hairline, Microtia	ORPHA:124
Yunis-Varon Syndrome	Cataract, Cardiomyopathy, Bilateral microphthalmos, Pulmonary arterial hypertension, Microphthalm...	ORPHA:3472
Ogden Syndrome	Wide nasal bridge, Flared nostrils, Bifid nasal tip, Microretrognathia, Depressed nasal bridge, U...	OMIM:300855
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity	OMIM:274000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Abnormality of endocrine pancreas physiology, Abnormality of exocrine pancreas physiology, Hepati...	ORPHA:93111
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Short nose	OMIM:602398
Lethal Acantholytic Erosive Disorder	Respiratory failure	ORPHA:158687
Cancer-Associated Retinopathy	Dyschromatopsia, Constriction of peripheral visual field, Visual loss, Central scotoma, Reduced v...	ORPHA:71505
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Diabetes mellitus, Pancreatic aplasia	OMIM:609069
Baller-Gerold Syndrome	Narrow nasal bridge, Prominent nasal bridge, Short nose	ORPHA:1225
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:154780
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Depressed nasal bridge, Bulbous nose, Anteverted nares, Long nose, Short nose	ORPHA:508533
Peters Plus Syndrome	Cataract, Microcornea, Peters anomaly, Corneal opacity, Iris coloboma, Anterior chamber synechiae	ORPHA:709
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Retinal dysplasia, Opacification of the corneal stroma, Optic nerve dysplasia	OMIM:615287
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Bulbous nose, Anteverted nares, Short nose	OMIM:115150
Marshall-Smith Syndrome	Choanal atresia, Recurrent upper respiratory tract infections, Depressed nasal bridge, Anteverted...	OMIM:602535
Trisomy 20P	Anteverted nares, Short nose	ORPHA:261318
Bohring-Opitz Syndrome	Hyperechogenic pancreas, Supernumerary nipple	OMIM:605039
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Polyc...	OMIM:208500
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Low-set ears, Short ear, Long eyelashes, Frontal upsweep of hair, Protruding ear, Posteriorly rot...	OMIM:614756
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Wide nasal bridge, Depressed nasal bridge, Spinal dysraphism, Anteverted nares, Miscarriage, Resp...	ORPHA:96334
Webb-Dattani Syndrome	Blindness	OMIM:615926
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal pupil morphology	ORPHA:286
Fontaine Progeroid Syndrome	Absent nipple, Coarse hair, Small nail, Hypertrichosis, Umbilical hernia, Intrauterine growth ret...	OMIM:612289
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:608156
Meckel Syndrome, Type 1	Occipital encephalocele, Intrauterine growth retardation, Large placenta, Anencephaly, Hydrocepha...	OMIM:249000
Down Syndrome	Brushfield spots, Conductive hearing impairment, Microtia	OMIM:190685
Pitt-Hopkins Syndrome	Hypopigmented skin patches, Astigmatism, Supernumerary nipple	ORPHA:2896
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Exocrine pancreatic insufficiency, Macronodular cirrhosis, Pancreatic f...	OMIM:557000
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Short nose	OMIM:613457
Smith-Lemli-Opitz Syndrome	Self-injurious behavior, Cataract, Abnormality of the gallbladder, Attention deficit hyperactivit...	ORPHA:818
Lacrimoauriculodentodigital Syndrome 1	Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon...	OMIM:149730
Congenital Fiber-Type Disproportion Myopathy	Respiratory failure, Intercostal muscle weakness, Fatigable weakness of bulbar muscles, Respirato...	ORPHA:2020
Gm1 Gangliosidosis Type 1	Blindness	ORPHA:79255
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:618278
Prader-Willi Syndrome	Intrauterine growth retardation, Frontal upsweep of hair, Generalized hypopigmentation	OMIM:176270
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Short nose	ORPHA:457279
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614080
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hepatic steatosis	OMIM:151660
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Coffin-Siris Syndrome	Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa...	ORPHA:1465
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Myopia, Blindness	ORPHA:847
Steinert Myotonic Dystrophy	Respiratory insufficiency, Decreased response to growth hormone stimulation test, Fatigable weakn...	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	Hepatomegaly, Hepatic fibrosis, Polysplenia, Pancreatic fibrosis	OMIM:200995
Shwachman-Diamond Syndrome 2	Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency	OMIM:617941
17Q12 Microdeletion Syndrome	Diabetes mellitus, Cryptorchidism, Pancreatic aplasia	ORPHA:261265
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Splenomegaly, Chronic pancreatitis, Hepatic steatosis	OMIM:610717
Malignant Atrophic Papulosis	Respiratory failure	ORPHA:679
Okamoto Syndrome	Wide nasal bridge, Depressed nasal bridge, Anal stenosis, Abnormally large globe, Exaggerated med...	ORPHA:2729
Robinow Syndrome, Autosomal Dominant 3	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:616894
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Low-set ears, Hypoplastic toenails, Chordee, Posteriorly rotated ears, Small earlobe, Microtia	OMIM:619522
Dermatomyositis	Heliotrope rash, Lymphoma, Neoplasm, Skin rash, Lung adenocarcinoma, Myositis, Gastrointestinal s...	ORPHA:221
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Highly arched eyebrow, Sparse eyebrow, Hearing impairment, Microtia	OMIM:143095
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Intrauterine growth retardation, Pigmentary retinopathy	ORPHA:71212
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Depressed nasal bridge, Bulbous nose, Anteverted nares, Short nose	OMIM:271510
Autosomal Dominant Cutis Laxa	Developmental cataract, Corneal opacity	ORPHA:90348
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Anteverted nares, Short nose	OMIM:247200
Pulmonary Alveolar Microlithiasis	Respiratory failure, Fatigable weakness, Respiratory insufficiency	ORPHA:60025
17Q11 Microdeletion Syndrome	Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neuromas, Atypical neuro...	ORPHA:97685
Deeah Syndrome	Death in childhood, Death in infancy, Death in adolescence, Prominent nasal tip, Short nose	OMIM:619004
Coffin-Siris Syndrome 12	Depressed nasal bridge, Velopharyngeal insufficiency, Underdeveloped nasal alae, Bulbous nose, An...	OMIM:619325
Acrofacial Dysostosis, Cincinnati Type	Low-set ears, Hearing impairment, Mild hearing impairment, Recurrent otitis media, Anotia, Thick ...	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	Blepharospasm, Optic atrophy, Pigmentary retinopathy, Retinal degeneration, Hyperpigmentation of ...	OMIM:234200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Epicanthus, Ptosis, Blepharophimosis, Microphthalmia, Antecubital pterygium	OMIM:609945
Dysosteosclerosis	Blindness	OMIM:224300
Leprosy	Corneal perforation, Blindness, Corneal ulceration, Iritis	ORPHA:548
Mevalonic Aciduria	Underdeveloped nasal alae	OMIM:610377
Musculocontractural Ehlers-Danlos Syndrome	Prominent nasolabial fold, Short nose	ORPHA:2953
Atelosteogenesis Type I	Abnormal pancreatic duct morphology	ORPHA:1190
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:1340
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:244450
Costello Syndrome	Depressed nasal bridge, Respiratory insufficiency, Anteverted nares, Hydrocephalus, Respiratory f...	OMIM:218040
Pallister-Hall Syndrome	Auricular tag, Atresia of the external auditory canal, Low-set, posteriorly rotated ears, Nail dy...	ORPHA:672
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Astigmatism, Corneal opacity, Conjunctivitis, Corneal erosion, Uveitis	ORPHA:2273
Esophageal Atresia	Coloboma	ORPHA:1199
Baller-Gerold Syndrome	Bifid uvula, Anteriorly placed anus, Underdeveloped nasal alae, Micrognathia, Prominent nasal bri...	OMIM:218600
1P21.3 Microdeletion Syndrome	Broad nasal tip, Short nose	ORPHA:293948
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad nasal tip, Retrognathia, Underdeveloped nasal alae, Intrauterine growth retardation, Cleft ...	ORPHA:268261
Peters-Plus Syndrome	Low-set ears, Iris coloboma, Facial hypertrichosis, Microtia, second degree, Hearing impairment, ...	OMIM:261540
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Anteverted nares, Recurrent sinusitis, Short nose, Wide nose	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	Depressed nasal bridge, Increased size of nasopharyngeal adenoids, Short nose	ORPHA:457395
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Cataract, Highly arched eyebrow, Trichiasis, Corneal scarring, Intrauterine growth retardation, P...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Cataract, Highly arched eyebrow, Trichiasis, Corneal scarring, Intrauterine growth retardation, P...	ORPHA:353277
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Pigmentary retinopathy, Segmental peripheral demyelination/remyelination, Rod-cone...	ORPHA:255210
Lipodystrophy, Congenital Generalized, Type 1	Splenomegaly, Hepatic steatosis, Cirrhosis, Hepatomegaly, Acute pancreatitis	OMIM:608594
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:230740
Congenital Myopathy 22B, Severe Fetal	Wide nasal bridge, Short nose	OMIM:620369
Otopalatodigital Syndrome, Type Ii	Depressed nasal bridge, Respiratory insufficiency, Hydrocephalus, Spina bifida, Stillbirth, Respi...	OMIM:304120
Isolated Complex I Deficiency	Blindness	ORPHA:2609
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Wide nasal bridge, Retrognathia, Underdeveloped nasal alae, Intrauterine growth retardation, Micr...	ORPHA:83617
Tuberous Sclerosis Complex	Pituitary adenoma, Respiratory failure, Noncommunicating hydrocephalus	ORPHA:805
Stickler Syndrome	Cataract, Ectopia lentis, Blindness, Astigmatism, Myopia, Visual impairment	ORPHA:828
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Short nose	ORPHA:3339
Nicolaides-Baraitser Syndrome	Wide nasal base, Bulbous nose, Narrow nasal bridge, Anteverted nares, Low hanging columella, Shor...	OMIM:601358
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Blindness	OMIM:612199
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Bardet-Biedl Syndrome	Cataract, Color vision defect, Blindness, Astigmatism, Reduced visual acuity, Nyctalopia, Photoph...	ORPHA:110
Wiedemann-Rautenstrauch Syndrome	Cataract, Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia, Upslanted palpebral fissu...	ORPHA:3455
Joubert Syndrome 39	Occipital encephalocele, Molar tooth sign on MRI	OMIM:619562
Osteoglophonic Dysplasia	Depressed nasal bridge, Choanal atresia, Nasal congestion, Anteverted nares, Short nose	OMIM:166250
Autosomal Recessive Robinow Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Death in infancy, Short nose	ORPHA:1507
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Attenuation of retinal blood vessels, Upslanted palpebral fissure, Abno...	ORPHA:468631
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Depressed nasal bridge, Choanal atresia, Bulbous nose, Choanal stenosis, Stillbirth, Short nose	ORPHA:95699
Cog1-Cdg	Low-set, posteriorly rotated ears, Microtia	ORPHA:263508
Yunis-Varon Syndrome	Low-set ears, Aplasia/Hypoplasia of the nails, Sparse eyebrow, Absent nipple, Prominent antihelix...	OMIM:216340
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Short nose	OMIM:617527
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Prominent nasal bridge, Short nose	ORPHA:1974
Lipodystrophy, Congenital Generalized, Type 2	Splenomegaly, Hepatic steatosis, Cirrhosis, Hepatomegaly, Acute pancreatitis	OMIM:269700
Plaa-Associated Neurodevelopmental Disorder	Short nose	ORPHA:521426
Down Syndrome	Depressed nasal bridge, Depressed nasal ridge, Short nose	ORPHA:870
Beckwith-Wiedemann Syndrome	Hypoglycemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Cryptorchidism, Ps...	ORPHA:116
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Low-set ears, Hypogonadism, Sensorineural hearing impairment, Posteriorly rotated ears, Microtia	OMIM:309580
Blomstrand Lethal Chondrodysplasia	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:50945
Neutral Lipid Storage Myopathy	Hepatomegaly, Chronic pancreatitis, Hepatic steatosis, Cholecystitis	ORPHA:98908
Pallister-Killian Syndrome	Hyperpigmented streaks, Cataract, Sparse eyebrow, Hypopigmentation of the skin, Alopecia, Supernu...	OMIM:601803
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Short nose	OMIM:609942
Neurooculorenal Syndrome	Iris atrophy	OMIM:620305
Jacobsen Syndrome	Wide nasal bridge, Broad columella, Anteverted nares, Death in infancy, Short nose	ORPHA:2308
Mandibuloacral Dysplasia Progeroid Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Bulbous nose, Micrognathia, Narrow nasal ridge...	OMIM:619127
Myoectodermal Gonadal Dysgenesis Syndrome	Anal atresia, Convex nasal ridge, Underdeveloped nasal alae, Pyloric stenosis	OMIM:618419
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:536467
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches	ORPHA:183
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Long nose, Prominent nose, Respiratory failure, Bulbous nose	ORPHA:2636
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Respiratory failure	ORPHA:340
Arima Syndrome	Brainstem dysplasia, Occipital meningocele, Molar tooth sign on MRI, Hypoplasia of the brainstem	OMIM:243910
Cryptococcosis	Abnormality of vision, Blindness	ORPHA:1546
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis	OMIM:615503
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Mosaic Trisomy 20	Intrauterine growth retardation, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin	ORPHA:1724
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Aortic regurgitation, Left ventricular systolic dysfunction, Transient isc...	ORPHA:740
Congenital Disorder Of Glycosylation, Type Iiw	Bilateral choanal atresia, Underdeveloped nasal alae, Ankyloglossia, Micrognathia, Concave nasal ...	OMIM:619525
Mucopolysaccharidosis, Type Iiid	Visual impairment, Nyctalopia	OMIM:252940
Acromesomelic Dysplasia 1	Short nose	OMIM:602875
Adams-Oliver Syndrome 1	Alopecia, Small nail, Supernumerary nipple, Encephalocele, Microphthalmia	OMIM:100300
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Short nose	ORPHA:90652
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Short nose	ORPHA:522077
Kbg Syndrome	Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae	OMIM:148050
Sotos Syndrome	Cataract, Hypopigmentation of the skin, Small nail, Umbilical hernia, Sparse anterior scalp hair,...	ORPHA:821
Trisomy 10P	Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Short nose	ORPHA:171929
Molybdenum Cofactor Deficiency, Type A	Short nose	OMIM:252150
Rajab Interstitial Lung Disease With Brain Calcifications 1	Respiratory failure, Respiratory insufficiency	OMIM:613658
Schinzel-Giedion Midface Retraction Syndrome	Depressed nasal bridge, Anteverted nares, Choanal stenosis, Abnormal nasopharynx morphology, Shor...	OMIM:269150
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Wide nasal bridge, Depressed nasal bridge, Respiratory failure, Short nose, Optic nerve hypoplasia	ORPHA:500150
Geleophysic Dysplasia 2	Short nose	OMIM:614185
Wiedemann-Steiner Syndrome	Wide nasal bridge, Short nose	ORPHA:319182
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear	ORPHA:314647
Trisomy 8P	Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose	ORPHA:264450
Osteogenesis Imperfecta	Corneal opacity	ORPHA:666
Granulomatosis With Polyangiitis	Concave nasal ridge, Oral ulcer, Nasal mucosa vasculitis	OMIM:608710
Dpagt1-Cdg	Nyctalopia, Astigmatism, Developmental cataract	ORPHA:86309
Floating-Harbor Syndrome	Carious teeth, Underdeveloped nasal alae, Umbilical hernia, Bulbous nose, Prominent nose, Promine...	OMIM:136140
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Hydrocephalus	OMIM:277400
Robinow Syndrome	Flared nostrils, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Short nose	ORPHA:97360
Geleophysic Dysplasia 1	Wide nasal bridge, Anteverted nares, Short nose	OMIM:231050
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Stillbirth, Microphthalmia, Anencephaly, Severe hydrocephalus	OMIM:236680
Autosomal Dominant Robinow Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose, Wide nose	ORPHA:3107
Xq21 Microdeletion Syndrome	Reduced visual acuity, Peripheral visual field loss, Visual acuity test abnormality, Progressive ...	ORPHA:1435
Joubert Syndrome 5	Occipital encephalocele, Thickened superior cerebellar peduncle, Molar tooth sign on MRI	OMIM:610188
Autosomal Recessive Polycystic Kidney Disease	Depressed nasal ridge, Respiratory failure	ORPHA:731
Helsmoortel-Van Der Aa Syndrome	Wide nasal bridge, Anteverted nares, Broad nasal tip, Short nose	OMIM:615873
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
Glycerol Kinase Deficiency	Adrenal insufficiency, Chronic pancreatitis	OMIM:307030
8Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Branchial cyst, Bilateral microphthalmos, Retinal coloboma, Long eyelashes...	ORPHA:508488
Orofaciodigital Syndrome Type 14	Bulbous nose, Dilated third ventricle, Molar tooth sign on MRI	ORPHA:434179
Cerebellofaciodental Syndrome	Hypoplasia of the pons, Hypoplasia of the midbrain	OMIM:616202
C Syndrome	Low-set, posteriorly rotated ears, Abnormal hair pattern, Hypoplasia of the ear cartilage	ORPHA:1308
Coffin-Lowry Syndrome	Thick nasal septum, Broad columella, Thick nasal alae, Anteverted nares, Short nose, Wide nose	OMIM:303600
Progressive Supranuclear Palsy	Abnormal synaptic transmission	ORPHA:683
Simpson-Golabi-Behmel Syndrome	Wide nasal bridge, Death in infancy, Anteverted nares, Short nose	ORPHA:373
Spondyloenchondrodysplasia With Immune Dysregulation	Vitiligo, Hypermelanotic macule, Hypopigmented skin patches on arms	OMIM:607944
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Retinal coloboma, Telecanthus, Astigmatism, Axenfeld anomaly, Aganglionic megacolon, Br...	ORPHA:261537
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Bulbous nose, Broad nasal tip, Short nose	OMIM:309590
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas	ORPHA:488642
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Choanal atresia, Anteverted nares, Short nose, Narrow nose	OMIM:301044
Yellow Fever	Skin rash, Jaundice, Acute pancreatitis, Pancreatic hyperplasia	ORPHA:99829
Omodysplasia 1	Wide nasal bridge, Depressed nasal bridge, Short nose	OMIM:258315
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Pancreatic fibrosis	OMIM:263520
Niemann-Pick Disease Type C	Respiratory failure, Respiratory insufficiency	ORPHA:646
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Constriction of peripheral visual field, Nyctalopia	OMIM:619418
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Prominent nasal bridge, Short nose	ORPHA:1519
Systemic Sclerosis	Spotty hypopigmentation, Alopecia, Irregular hyperpigmentation, Nail bed telangiectasia	ORPHA:90291
Aspartylglucosaminuria	Chronic otitis media, Microtia	ORPHA:93
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory failure	ORPHA:79404
Mowat-Wilson Syndrome	Cataract, Horizontal eyebrow, Retinal coloboma, Telecanthus, Astigmatism, Axenfeld anomaly, Agang...	ORPHA:2152
Phocomelia, Schinzel Type	Short nose	ORPHA:2879
Zttk Syndrome	Wide nasal bridge, Depressed nasal bridge, Short nose	OMIM:617140
Feingold Syndrome 1	Accessory spleen, Asplenia, Annular pancreas, Polysplenia	OMIM:164280
Cornelia De Lange Syndrome 6	Anteverted nares, Short nose	OMIM:620568
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Wide nasal bridge, Broad nasal tip, Prominent nasal tip, Short nose, Optic nerve hypoplasia	OMIM:620330
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Coloboma, Hydrocephalus, Neonatal death	OMIM:619534
Familial Tumoral Calcinosis	Hypopigmented skin patches	ORPHA:53715
Femoral-Facial Syndrome	Underdeveloped nasal alae, Micrognathia, Encephalocele, Spina bifida, Short nose, Cleft palate	OMIM:134780
Nocardiosis	Respiratory failure	ORPHA:31204
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal ridge, Depressed nasal bridge, Enlarged naris, Concave nasal ridge, Short nose	OMIM:271665
Ulbright-Hodes Syndrome	Depressed nasal bridge, Respiratory failure, Convex nasal ridge	ORPHA:3404
Ctcf-Related Neurodevelopmental Disorder	Anteverted nares, Broad nasal tip, Short nose, Short columella	ORPHA:363611
Digeorge Syndrome	Cholelithiasis, Hepatic steatosis, Splenomegaly, Posterior embryotoxon, Attention deficit hyperac...	OMIM:188400
Tetragametic Chimerism	Hypopigmented skin patches	ORPHA:199310
Genitourinary And/Or Brain Malformation Syndrome	Short nose, Aplasia of the nasal bone	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
Robinow Syndrome, Autosomal Dominant 1	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:180700
Schinzel-Giedion Syndrome	Broad nasal tip, Choanal stenosis, Short nose	ORPHA:798
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Short columella, Short nose	OMIM:601776
Hardikar Syndrome	Lacrimal duct stenosis, Pigmentary retinopathy	OMIM:301068
Alström Syndrome	Hepatic fibrosis, Recurrent pneumonia, Hepatitis, Decreased response to growth hormone stimulatio...	ORPHA:64
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation	ORPHA:3063
Cornelia De Lange Syndrome	Depressed nasal bridge, Choanal atresia, Anteverted nares, Short nose	ORPHA:199
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Annular pancreas	OMIM:265380
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Depressed nasal bridge, Prominent nose, Prominent nasolabial fold, Short nose	OMIM:619503
Orofaciodigital Syndrome Xiv	Holoprosencephaly, Occipital encephalocele, Molar tooth sign on MRI	OMIM:615948
Penile Agenesis	Depressed nasal bridge, Short nose	ORPHA:49
Johanson-Blizzard Syndrome	Colonic diverticula, Anteriorly placed anus, Underdeveloped nasal alae, Intrauterine growth retar...	OMIM:243800
Simpson-Golabi-Behmel Syndrome, Type 1	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:312870
Cystic Fibrosis	Steatorrhea, Nasal polyposis, Rectal prolapse, Meconium ileus	ORPHA:586
Williams-Beuren Syndrome	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Short nose	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 21.1 Data