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Gene: Map3k1 MGI:1346872

Gene Summary

Name:

mitogen-activated protein kinase kinase kinase 1

Synonyms:

Mekk, MEKK1

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
decreased circulating fructosamine level	Map3k1^{tm1a(KOMP)Wtsi}	HET	Early adult	5.16×10^-06
increased lean body mass	Map3k1^{tm1a(KOMP)Wtsi}	HET	Early adult	9.82×10^-05
abnormal startle reflex	Map3k1^{Gt(YTC001)Byg}	HET	Early adult	5.41×10^-05
increased bone mineral content	Map3k1^{tm1a(KOMP)Wtsi}	HET	Early adult	4.84×10^-05
increased circulating free fatty acids level	Map3k1^{tm1a(KOMP)Wtsi}	HET	Early adult	1.52×10^-05
abnormal retina morphology	Map3k1^{tm1a(KOMP)Wtsi}	HET	Early adult	4.58×10^-05
preweaning lethality, incomplete penetrance	Map3k1^{Gt(YTC001)Byg}	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Map3k1^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
decreased fasting circulating glucose level	Map3k1^{tm1a(KOMP)Wtsi}	HET	Early adult	5.76×10^-06
increased red blood cell distribution width	Map3k1^{tm1a(KOMP)Wtsi}	HET	Early adult	6.40×10^-05

Download data as: TSV XLS

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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 Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Histopathology

Images

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Forepaw

12 Images

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Legacy Phenotype Associated Images

Map3k1^{tm1a(KOMP)Wtsi}
WT, Female, WTSI

Map3k1^{tm1a(KOMP)Wtsi}
WT, Male, WTSI

Map3k1^{tm1a(KOMP)Wtsi}
WT, Female, WTSI

View all 92 images

Map3k1^{tm1a(KOMP)Wtsi}
right eye, HET, Male, WTSI

Map3k1^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HET, Female, WTSI

Map3k1^{tm1a(KOMP)Wtsi}
right eye, HET, Female, WTSI

Map3k1^{tm1a(KOMP)Wtsi}
left eye, HET, Female, WTSI

Map3k1^{tm1a(KOMP)Wtsi}
right eye, HET, Female, WTSI

View all 8 images

Map3k1^{tm1a(KOMP)Wtsi}
head, HET, Female, WTSI

Map3k1^{tm1a(KOMP)Wtsi}
back skin, HET, Female, WTSI

Human diseases caused by Map3k1 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 Map3k1 (3 diseases)
Human diseases predicted to be associated with Map3k1 (1863 diseases)

The table below shows human diseases associated to Map3k1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
46,Xy Partial Gonadal Dysgenesis	Osteoporosis	ORPHA:251510
46,Xy Complete Gonadal Dysgenesis		ORPHA:242
46,Xy Sex Reversal 6		OMIM:613762

The table below shows human diseases predicted to be associated to Map3k1 by phenotypic similarity.

Disease	Matching phenotypes	Source
22q11 duplication syndrome	Telecanthus	DECIPHER:32
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Oculomotor-Levator Synkinesis	Ptosis, Eyelid retraction, Abnormal eyelid morphology	OMIM:151610
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog...	ORPHA:891
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis	OMIM:620086
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Galactosialidosis	Cherry red spot of the macula, Corneal opacity	ORPHA:351
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy	OMIM:603649
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Ceroid Lipofuscinosis, Neuronal, 6A	Increased neuronal autofluorescent lipopigment, Retinal degeneration	OMIM:601780
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Oliver-Mcfarlane Syndrome	Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Retinal degeneration	OMIM:275400
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d...	OMIM:616188
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent...	OMIM:204200
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Shallow anterior chamber, Macular atrophy, Retinal degeneration	OMIM:267760
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero...	OMIM:217800
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Patent ductus arteriosus, Absent foveal reflex, Mi...	OMIM:615147
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Marcus Gunn Phenomenon	Unilateral ptosis, Congenital ptosis	OMIM:154600
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Ceroid Lipofuscinosis, Neuronal, 2	Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autoflu...	OMIM:204500
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Ptosis, Hereditary Congenital 1	Congenital ptosis	OMIM:178300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	OMIM:251270
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration, Ptosis	OMIM:311000
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Morm Syndrome	Cataract, Retinal dystrophy, Retinal atrophy	ORPHA:75858
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma	OMIM:148200
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Iris coloboma, Ptosis	ORPHA:1259
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Coloboma, Orbital cyst	OMIM:251505
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Mucolipidosis Iv	Cerebellar atrophy, Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Retinal ...	OMIM:252650
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea...	OMIM:608470
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Optic atrophy, Retinal degeneration	OMIM:614322
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Leber Congenital Amaurosis 4	Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Scheie Syndrome	Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration	OMIM:607016
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v...	ORPHA:94058
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Exudative Vitreoretinopathy 5	Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T...	OMIM:613310
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R...	OMIM:610951
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Epicanthus, Abnormal retinal vascular morphology, Synophrys,...	ORPHA:1390
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Endocardial Fibroelastosis	Congestive heart failure, Telecanthus, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis	ORPHA:1067
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho...	OMIM:601706
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal...	OMIM:152950
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ...	OMIM:204000
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Cardiomyopathy	OMIM:609016
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular...	OMIM:615145
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Diabetes And Deafness, Maternally Inherited	Ptosis, Pigmentary retinopathy, Retinal degeneration, Cardiomyopathy	OMIM:520000
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Hypertension	ORPHA:3156
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia, Retinal degeneration	OMIM:617173
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ...	OMIM:103500
Microphthalmia, Syndromic 16	Ankyloblepharon, Sclerocornea	OMIM:611038
Adult-Onset Foveomacular Vitelliform Dystrophy	Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation	ORPHA:99000
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Macular Dystrophy, Vitelliform, 3	Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ...	OMIM:608161
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Ceroid Lipofuscinosis, Neuronal, 1	Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular degenera...	OMIM:256730
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization	OMIM:608895
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Astigmatism, Macular atrophy	OMIM:610356
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Long eyelashes, Retinal degeneration	ORPHA:3363
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Loeffler Endocarditis	Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit...	ORPHA:75566
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal erosion, Macular dege...	ORPHA:816
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con...	OMIM:300424
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co...	ORPHA:2334
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli...	OMIM:619389
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Cerebral atrophy...	OMIM:616171
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy	OMIM:551500
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hy...	ORPHA:1345
Morquio Syndrome C	Corneal opacity	OMIM:252300
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Refsum Disease, Classic	Cataract, Congestive heart failure, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Retinal degen...	OMIM:266500
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis...	OMIM:609218
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s...	OMIM:616959
Nephronophthisis 15	Retinal degeneration	OMIM:614845
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Juvenile cataract	ORPHA:1264
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Cerebral cortical atrophy, Increased neuronal autofluorescent lipopigment, Re...	OMIM:256731
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Cerebral cortical atrophy	ORPHA:1466
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal audi...	OMIM:619260
Bardet-Biedl Syndrome 4	Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo...	OMIM:126070
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Ring Chromosome 14 Syndrome	Epicanthus, Almond-shaped palpebral fissure, Pigmentary retinopathy, Blepharophimosis, Downslante...	OMIM:616606
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Retinopathy Of Prematurity	Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog...	ORPHA:90050
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy, Ptosis	ORPHA:2743
Butyrylcholinesterase Deficiency	Congestive heart failure, Myocardial infarction	ORPHA:132
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Woolly Hair	Hypopigmentation of hair, Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Spars...	ORPHA:170
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Chorioretinal coloboma, Ptosis	OMIM:300915
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy	OMIM:619090
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Uveitis,...	OMIM:221900
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Retinal dysplasia, Coloboma, Developmental cataract	ORPHA:324416
Developmental And Epileptic Encephalopathy 48	Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Hypsarrhythmia, Proptosis, Long eyelashe...	OMIM:617276
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Patent ductus arteriosus, Aplasia...	ORPHA:290
Ramon Syndrome	Abnormality of retinal pigmentation, Abnormal anterior chamber morphology, Telangiectasia of the ...	ORPHA:3019
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Pontocerebellar Hypoplasia Type 10	Highly arched eyebrow, Optic atrophy, Proptosis, Long eyelashes, Long palpebral fissure	ORPHA:411493
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Frias Syndrome	Posteriorly rotated ears, Hypertelorism, Cupped ear, Proptosis, Downslanted palpebral fissures, P...	OMIM:609640
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ...	ORPHA:542306
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Alpha-Methylacyl-Coa Racemase Deficiency	Rod-cone dystrophy, Cataract, Pigmentary retinopathy	OMIM:614307
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:617023
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E...	ORPHA:2788
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Stickler Syndrome, Type V	Retinal detachment, Cataract, Vitreoretinopathy	OMIM:614284
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Non-Syndromic Bicoronal Craniosynostosis	Hypertelorism, Proptosis, Hearing impairment	ORPHA:35099
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Ptosis	ORPHA:44
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Microphthalmia, Isolated 6	Microcornea, Retinal fold	OMIM:613517
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Cednik Syndrome	Congestive heart failure, Pachygyria, Downslanted palpebral fissures, Polymicrogyria	ORPHA:66631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Coloboma	OMIM:613153
Mitochondrial Complex I Deficiency, Nuclear Type 30	Congestive heart failure	OMIM:301021
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Harel-Yoon Syndrome	Cerebellar atrophy, Corneal opacity, Optic atrophy, Developmental cataract, Upslanted palpebral f...	OMIM:617183
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis, Bitot spots of the conjunctiva	OMIM:277350
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Orbital Margin, Hypoplasia Of	Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly	OMIM:165600
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ...	OMIM:601813
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Microcephaly 5, Primary, Autosomal Recessive	Proptosis, Highly arched eyebrow, Hearing impairment	OMIM:608716
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Absent eyebrow, Retinopathy	ORPHA:1897
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom...	ORPHA:54
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Cataract, Tortuosity of conjunctival vessels, Macular degeneration, Ptosis	ORPHA:284289
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Developmental And Epileptic Encephalopathy 28	Cerebral atrophy, Epicanthus, Optic atrophy, Retinal degeneration	OMIM:616211
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,...	ORPHA:2041
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Dilated cardiomyopathy	ORPHA:2515
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Epicanthus, Keratoglobus, Astigmatism, Blepharo...	OMIM:108145
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu...	OMIM:617406
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu...	ORPHA:247691
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Telecanthus, Posterior subcapsular cataract, Chorioretinal degeneration	OMIM:615458
Sialidosis Type 2	Corneal opacity, Abnormal macular morphology	ORPHA:87876
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag...	ORPHA:897
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Cherubism	Proptosis, Optic atrophy	ORPHA:184
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Small for gestational age, Anemia of inadequate production, An...	OMIM:224120
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Retinitis Pigmentosa 66	Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypop...	ORPHA:79432
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Rod-cone dystrophy, Cataract, Retinal coloboma	ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Rod-cone dystrophy, Cataract, Retinal coloboma	OMIM:601794
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Optic atrophy, Cerebral cortical atrophy, Retinal degeneration	OMIM:300438
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Patchy atrophy of the retinal pigment epithelium, Upslanted palpebral fissure, Juvenile cataract,...	ORPHA:436245
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Thick eyebrow, Cataract, Corneal opacity, Optic atrophy, Abn...	ORPHA:585
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction...	OMIM:614096
Winchester Syndrome	Corneal opacity	OMIM:277950
Vogt-Koyanagi-Harada Disease	Retinal detachment, Abnormal eyebrow morphology, Cataract, Poliosis, Abnormal eyelash morphology,...	ORPHA:3437
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Pontocerebellar Hypoplasia, Type 3	Cerebellar atrophy, Optic disc pallor, Optic atrophy, Cerebral atrophy, Proptosis, Low-set ears, ...	OMIM:608027
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Macular degeneration, Cataract	OMIM:619780
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Re...	OMIM:252600
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertrophic cardiomyopathy, Retinal degeneration	OMIM:616896
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy	ORPHA:206546
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Sandhoff Disease	Congestive heart failure	ORPHA:796
Intellectual Developmental Disorder, Autosomal Dominant 26	Epicanthus, Thick eyebrow, Highly arched eyebrow, Hypertelorism, Upslanted palpebral fissure, Pro...	OMIM:615834
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Upslanted p...	ORPHA:496790
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Third degree atrioventricular block	ORPHA:480
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141179
Gómez-López-Hernández Syndrome	Telecanthus, Corneal opacity	ORPHA:1532
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Frontoocular Syndrome	Epicanthus, Posteriorly rotated ears, Hypotelorism, Upslanted palpebral fissure, Proptosis, Low-s...	OMIM:605321
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Intermediate Uveitis	Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate...	ORPHA:279914
Microphthalmia With Brain And Digit Anomalies	Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Thin eyebrow, Patchy atrophy of the retinal pigment epitheli...	ORPHA:1433
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Subcapsular cat...	OMIM:268020
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur	ORPHA:3400
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:608099
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re...	OMIM:615113
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Atransferrinemia	Congestive heart failure	OMIM:209300
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Cataract	ORPHA:3085
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Hypertelorism, Sparse eyebrow, Cupped e...	OMIM:167730
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp...	OMIM:540000
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Myocardial infarction	OMIM:615703
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Hemochromatosis, Type 2A	Congestive heart failure, Dilated cardiomyopathy, Arthritis, Cardiomyopathy, Arrhythmia	OMIM:602390
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow	OMIM:617121
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Deafness, X-Linked 7	Ptosis, Telecanthus, Posteriorly rotated ears, Unilateral microphthalmos, Atresia of the external...	OMIM:301018
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure	OMIM:616794
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Spastic Paraplegia 11, Autosomal Recessive	Macular degeneration, Cerebral cortical atrophy, Retinal degeneration, Degeneration of the latera...	OMIM:604360
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Decreased sensory nerve conduction velocity, O...	OMIM:609033
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys...	OMIM:610127
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Downslanted palpeb...	OMIM:602562
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141184
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy	ORPHA:324588
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First d...	OMIM:115197
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Coloboma, Cataract, Retinal degeneration	OMIM:615249
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Left ventricular hypertrophy, Congestive heart failure, Bradycardia, Ventricular hypertrophy	OMIM:619048
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Cat-Eye Syndrome	Hypertelorism, Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Hearing im...	ORPHA:195
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A...	ORPHA:860
Infantile Sialic Acid Storage Disease	Congestive heart failure, Epicanthus, Cardiomegaly, Ptosis	OMIM:269920
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Abnormal conjunctiva morphology	OMIM:602248
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Narp Syndrome	Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Corticospi...	ORPHA:644
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Upslanted palpebral fissure, Proptosis, Cerebral atrophy	OMIM:618492
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Cystinosis, Adult Nonnephropathic	Abnormal retinal morphology, Corneal crystals	OMIM:219750
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:618234
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Hypertension, Leukocoria, Telangiectasia	OMIM:219250
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Walker-Warburg Syndrome	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Optic ...	ORPHA:899
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Alpha-Mannosidosis, Adult Form	Cerebellar atrophy, Optic disc pallor, Aortic regurgitation, Cataract, Corneal opacity, Subcortic...	ORPHA:309288
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Cardiomyopathy, Arrhythmia, Retinal degeneration	OMIM:249270
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L...	ORPHA:57777
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Autosomal Recessive Stickler Syndrome	Retinal detachment, Vitreoretinopathy, Cataract, Astigmatism	ORPHA:250984
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype...	OMIM:300918
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur...	ORPHA:49827
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium	OMIM:619339
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Telecanthus, Abnormal auditory evoked potentials, Hypertelorism, Sensorineural he...	OMIM:109120
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Superfi...	ORPHA:209956
Sialidosis Type 1	Cataract, Corneal opacity, Decreased nerve conduction velocity, Cherry red spot of the macula, Re...	ORPHA:812
Ravine Syndrome	Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy...	ORPHA:2119
Multiple Sulfatase Deficiency	Cerebellar atrophy, Cerebral atrophy, Corneal opacity, Retinal degeneration	OMIM:272200
Mulibrey Nanism	Corneal dystrophy, Congestive heart failure, Pigmentary retinopathy, Astigmatism, Iris coloboma	OMIM:253250
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy	ORPHA:404451
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti...	OMIM:605808
2Q24 Microdeletion Syndrome	Coloboma, Cataract, Downslanted palpebral fissures, Abnormality iris morphology	ORPHA:1617
Oculomaxillofacial Dysostosis	Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis...	ORPHA:1794
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom...	OMIM:255160
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Astigmatism	ORPHA:1824
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Palmoplantar keratoderma, Orthokeratosis, Ectropion	OMIM:173200
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Microphthalmia, Isolated, With Coloboma 5	Iris coloboma, Chorioretinal coloboma	OMIM:611638
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Cln3 Disease	Cerebellar atrophy, Cataract, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, T-wa...	ORPHA:228346
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Re...	ORPHA:280921
Autism Spectrum Disorder Due To Auts2 Deficiency	Epicanthus, Highly arched eyebrow, Hypertelorism, Bilateral ptosis, Upslanted palpebral fissure, ...	ORPHA:352490
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Aceruloplasminemia	Blepharospasm, Retinal degeneration	OMIM:604290
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus	ORPHA:1573
Crouzon Syndrome	Ptosis, Hypertelorism, Optic atrophy, Proptosis, Conjunctivitis, Conductive hearing impairment, N...	ORPHA:207
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Hemochromatosis, Type 2B	Congestive heart failure, Cardiomyopathy	OMIM:613313
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:91130
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Eczema, Pulmonary arterial hypertension	OMIM:619751
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Cerebral atrophy, Brain atrophy, Downslanted palpebral fissures, Retinal degenerat...	ORPHA:442835
Donnai-Barrow Syndrome	Retinal detachment, Posteriorly rotated ears, Retinal dystrophy, Hypertelorism, Sensorineural hea...	ORPHA:2143
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma	OMIM:256540
Frontonasal Dysplasia 3	Absent eyebrow, Posteriorly rotated ears, Sparse eyelashes, Hypertelorism, Upper eyelid coloboma,...	OMIM:613456
Joint Laxity, Short Stature, And Myopia	Retinal detachment, Iris coloboma, Chorioretinal coloboma	OMIM:617662
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Developmental ca...	ORPHA:93400
Tetralogy Of Fallot	Proptosis	OMIM:187500
Developmental And Epileptic Encephalopathy 75	Optic disc pallor, Hypertelorism, Optic atrophy, Hypsarrhythmia, Upslanted palpebral fissure, Pro...	OMIM:618437
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Refsum Disease	Abnormality of retinal pigmentation, Cataract, Heart block, Cardiomyopathy, Retinopathy, Ptosis	ORPHA:773
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Tachycardia, Cerebral atrophy, Pigmentary retinopathy, Ret...	ORPHA:79264
Alg6-Cdg	Rod-cone dystrophy, Retinal degeneration	ORPHA:79320
Pierpont Syndrome	Telecanthus, Posteriorly rotated ears, Uplifted earlobe, Hypertelorism, Atrophy/Degeneration affe...	ORPHA:487825
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
Wolfram Syndrome 1	Cataract, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Cardiomyopathy, Ptosis	OMIM:222300
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Caudate ...	ORPHA:52368
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Cardiomyopathy, Hypopigmentation of...	ORPHA:1493
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Lethal Osteosclerotic Bone Dysplasia	Proptosis, Posteriorly rotated ears, Low-set ears	ORPHA:1832
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia	ORPHA:157973
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia	OMIM:614830
Teebi Hypertelorism Syndrome 2	Hearing impairment, Hypertelorism, Upper eyelid coloboma, Proptosis, Thick eyebrow, Ptosis	OMIM:619736
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Baraitser-Winter Syndrome 2	Ptosis, Telecanthus, Abnormal pinna morphology, Highly arched eyebrow, Hypertelorism, Long palpeb...	OMIM:614583
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Vitamin K Antagonist Embryofetopathy	Hypertelorism, Optic atrophy, Microtia, Proptosis, Aplasia/Hypoplasia affecting the eye, Hearing ...	ORPHA:1914
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Bilateral ptosis, Pigmentary retinopathy, Abnormal atrioventricular conduction, Cardiomyopathy	ORPHA:329336
Antiphospholipid Syndrome, Familial	Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir...	OMIM:107320
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy, Ptosis	OMIM:619473
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Optic atrophy, Protruding ear, Proptosis, Macrotia, Cerebral cortical atrophy	OMIM:617481
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling, Epicanthus, Cataract, Downslanted palpebral fissures	OMIM:614105
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio...	OMIM:618815
Hartsfield Syndrome	Low-set, posteriorly rotated ears, Telecanthus, Hypertelorism, Microphthalmia, Downslanted palpeb...	ORPHA:2117
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Epicanthus, Abnormality of the middle ear ossicles, Hypertelorism, Severe condu...	ORPHA:90646
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
D-Glyceric Aciduria	Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level	ORPHA:941
Axial Spondylometaphyseal Dysplasia	Cataract, Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy, ...	ORPHA:168549
Nance-Horan Syndrome	Microcornea, Retinal detachment, Cataract	ORPHA:627
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Temtamy Syndrome	Telecanthus, Hypertelorism, Chorioretinal coloboma, Low-set ears, Microphthalmia	ORPHA:1777
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Astigmatism, Retinal degeneration	ORPHA:168491
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Optic atrophy, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Ptosis	OMIM:252011
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Congestive heart failure, Chylopericardium, Pulmonic stenosis, Pulmonary...	ORPHA:2414
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials,...	OMIM:125250
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
American Trypanosomiasis	Skin rash, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Achalasia, Infectio...	ORPHA:3386
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Trisomy 12P	Epicanthus, Hypertelorism, Aplasia/Hypoplasia of the iris, Abnormal antihelix morphology, Proptos...	ORPHA:1699
Chromosome 6Pter-P24 Deletion Syndrome	Epicanthus, Telecanthus, Patent ductus arteriosus, Telangiectasia, Pigmentary retinopathy, Axenfe...	OMIM:612582
Zellweger Syndrome	Epicanthus, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic...	ORPHA:912
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Werner Syndrome	Cataract, Retinal degeneration	OMIM:277700
Gombo Syndrome	Microphthalmia	OMIM:233270
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Congestive heart failure, Highly arched eyebrow	ORPHA:500533
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio...	OMIM:613154
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy	OMIM:606703
Immune-Mediated Necrotizing Myopathy	Myositis, Skin rash, Raynaud phenomenon, Congestive heart failure, Myocarditis, Palpitations	ORPHA:206569
Stickler Syndrome Type 1	Retinal detachment, Sensorineural hearing impairment, Proptosis, Abnormal vitreous humor morphology	ORPHA:90653
Congenital Muscular Dystrophy, Fukuyama Type	Dilated cardiomyopathy, Cataract, Optic atrophy, Retinal dysplasia	ORPHA:272
Knobloch Syndrome	Retinal detachment, Epicanthus, Cataract, Ectopia lentis, Patent ductus arteriosus, Abnormal vitr...	ORPHA:1571
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Pierpont Syndrome	Telecanthus, Posteriorly rotated ears, Hypertelorism, Large fleshy ears, Deeply set eye, Narrow p...	OMIM:602342
Juvenile Sialidosis Type 2	Optic atrophy, Cherry red spot of the macula, Cataract, Corneal opacity	ORPHA:93399
Abcd Syndrome	White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Total...	OMIM:600501
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Axonal degeneration, Pigmentary retinopathy, A...	ORPHA:88628
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Pericarditis	ORPHA:163596
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:1349
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Brushfield spots, Optic nerve dysplasia, Upslanted palpebr...	OMIM:214110
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Hy...	ORPHA:5
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Neuro...	ORPHA:391428
Leigh Syndrome	Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy, Gliosis, Ptosis	OMIM:256000
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia, Arthritis	ORPHA:85446
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis	OMIM:602400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypertelorism, Optic atrophy, Proptosis, Conductive hearing impairment, Ptosis	ORPHA:93262
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Large earlobe, Proptosis, Optic atrophy, EEG abnormality	OMIM:618346
Warburg Micro Syndrome 1	Optic atrophy, Cerebral atrophy, Deeply set eye, Low-set ears, Microphthalmia, Macrotia, Ptosis	OMIM:600118
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Hypertension, Melanocytic nevus	ORPHA:2801
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Downslanted palpebral fissures, Limbal d...	ORPHA:2969
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Low-set ears	OMIM:616570
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon...	ORPHA:727
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Optic nerve hypoplasia, Abnor...	ORPHA:141099
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Sclerocornea, Pigmentary retinopathy, Downslanted palpebral fissures, Short...	OMIM:614230
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Cystinosis	Retinopathy, Corneal opacity, Portal hypertension	ORPHA:213
Muenke Syndrome	Ptosis, Hypertelorism, Sensorineural hearing impairment, Proptosis, Recurrent otitis media, Downs...	OMIM:602849
Microcephaly-Microcornea Syndrome, Seemanova Type	Upslanted palpebral fissure, Microphthalmia, Epicanthus	ORPHA:2528
Chromosome 5P13 Duplication Syndrome	Epicanthus, Posteriorly rotated ears, Hypertelorism, Blepharophimosis, Hypotelorism, Upslanted pa...	OMIM:613174
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma, Cere...	ORPHA:2510
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Erythrokeratodermia Variabilis	Irregular hyperpigmentation, Cataract, Corneal opacity, Hypermelanotic macule	ORPHA:317
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology	ORPHA:70472
Tetralogy Of Fallot	Proptosis	ORPHA:3303
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortica...	ORPHA:2518
Usher Syndrome Type 1	Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest...	ORPHA:231169
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis...	ORPHA:79433
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Cutis Laxa, Autosomal Recessive, Type Iie	Highly arched eyebrow, Proptosis, Long eyelashes, Downslanted palpebral fissures, Hearing impairment	OMIM:619451
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Synophrys, Buphthalmos, Keratoconjunctivitis sicca, Long eyelashes, R...	OMIM:618479
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op...	OMIM:120330
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Optic atrophy, Cerebral atrophy	OMIM:274270
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Abnormal pulmonary valve morphology, Congestive heart failure, Abnormal aortic valve morphology, ...	ORPHA:1194
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality	OMIM:617519
Multiple Synostoses Syndrome 3	Proptosis	OMIM:612961
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Failure to thrive, Hypoketotic hypoglycemia	OMIM:610768
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy	ORPHA:370968
Filippi Syndrome	Cerebellar atrophy, Proptosis, Optic atrophy, Dystonia	OMIM:272440
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Pigmentary retinopathy, Cataract	ORPHA:79095
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Pulmonary arterial hypertension, Brain atrophy	OMIM:619059
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ...	ORPHA:3205
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia, Hypotelorism	OMIM:218670
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Kleeblattschaedel	Proptosis	OMIM:148800
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Absent eyelashes, Rod-cone dystrophy, Heart murmur, Cafe-au-lait spot, Downslante...	ORPHA:166035
Joubert Syndrome 3	Epicanthus, Retinal dystrophy, Highly arched eyebrow, Pigmentary retinopathy, Ptosis	OMIM:608629
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v...	ORPHA:1457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Optic atr...	OMIM:236670
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary reti...	OMIM:610651
Bartsocas-Papas Syndrome	Corneal opacity, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Sparse or absent eyelashe...	ORPHA:1234
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Epicanthus, Hypertelorism, Large earlobe, Microphthalmia, Downslanted palpebral fissures	OMIM:602501
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ventricular t...	OMIM:605676
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion...	ORPHA:1764
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Posteriorly rotated ears, Highly arched eyebrow, Hypertelorism, Microphthalmia	OMIM:300887
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Carnitine Deficiency, Systemic Primary	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endocardial fibroel...	OMIM:212140
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail...	OMIM:264800
Spinocerebellar Ataxia Type 3	Abnormal vestibular function, Proptosis, Dystonia	ORPHA:98757
Holoprosencephaly 11	Synophrys, Proptosis, Thick eyebrow, Hypotelorism	OMIM:614226
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Facial palsy, Retinal coloboma, Macular coloboma	OMIM:107550
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Yao Syndrome	Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis...	OMIM:617321
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi...	ORPHA:183
Acrofrontofacionasal Dysostosis 2	Posteriorly rotated ears, Hypertelorism, Proptosis, Low-set ears, Overfolded helix, Downslanted p...	OMIM:239710
Senior-Loken Syndrome 9	Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Hyperostosis Cranialis Interna	Abnormal vestibular function, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Prop...	OMIM:144755
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ectropion, Ocular albinism, Choroideremia, I...	ORPHA:2719
Hurler Syndrome	Aortic regurgitation, Corneal opacity, Bilateral ptosis, Cardiomyopathy, Mitral regurgitation, Ne...	OMIM:607014
Periventricular Nodular Heterotopia 7	Optic disc pallor, Hypertelorism, Sensorineural hearing impairment, Hypsarrhythmia, Deeply set ey...	OMIM:617201
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Long eyelashes, Microphthalmia, Cerebral cortical atrophy, Abnormality of peripheral nerve conduc...	ORPHA:48431
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus	ORPHA:1064
Optic Pathway Glioma	Papilledema, Vertigo, Proptosis, Optic atrophy	ORPHA:2086
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Joubert Syndrome 6	Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Endocarditis, A...	ORPHA:3099
Hemochromatosis, Type 1	Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia	OMIM:235200
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Long eyelashes, Downslanted palpebral fis...	OMIM:617523
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Rod-cone dystrophy, Hypoautofluorescent retinal lesion, Cafe-au...	OMIM:250410
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Patent ductus arterios...	ORPHA:90308
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Holoprosencephaly-Craniosynostosis Syndrome	Upslanted palpebral fissure, Abnormality of retinal pigmentation, Epicanthus, Short palpebral fis...	ORPHA:2163
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Aganglionic megacolon, Hype...	OMIM:209900
Usher Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal cardiovascular system physiology, Astigma...	ORPHA:886
Humero-Radial Synostosis	Iris coloboma, Chorioretinal coloboma	ORPHA:3265
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Epicanthus, Bicuspid aortic valve, Ven...	ORPHA:363705
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Bilateral ptosis, Sensorineural hearing impairment, Optic at...	ORPHA:1215
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Aarskog-Scott Syndrome	Congestive heart failure, Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:915
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation	ORPHA:873
Spondylo-Ocular Syndrome	Retinal detachment, Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Hypertelorism, A...	ORPHA:85194
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Spinocerebellar Ataxia-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Optic atrophy, Proptosis, Ptosis	ORPHA:1185
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart...	ORPHA:275766
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma	ORPHA:2791
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey...	ORPHA:2396
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Farber Disease	Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn...	ORPHA:333
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Retinal degeneration	OMIM:615630
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Cardiomyopathy, Corneal opacity	ORPHA:93476
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Hypertelorism, Abnormal antihelix morphology, Large earlobe, Low-set ears,...	ORPHA:1438
Antisynthetase Syndrome	Aortic regurgitation, Myositis, Telangiectasia of the skin, Skin rash, Myocarditis, Keratoconjunc...	ORPHA:81
Incontinentia Pigmenti	Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Telangiectasia ...	ORPHA:464
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Shashi-Pena Syndrome	Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Hypertelorism, Synophrys, Cupped ear...	OMIM:617190
Donnai-Barrow Syndrome	Retinal detachment, Posteriorly rotated ears, Retinal dystrophy, Hypertelorism, Sensorineural hea...	OMIM:222448
Kniest Dysplasia	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ...	ORPHA:485
Distal Deletion 9P	Low-set, posteriorly rotated ears, Epicanthus, Hypertelorism, Aplasia/Hypoplasia of the earlobes,...	ORPHA:1642
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Frontal cortic...	ORPHA:2714
Kawasaki Disease	Pericarditis, Skin rash, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, ...	ORPHA:2331
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration, Retinal degeneration	ORPHA:79244
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure	ORPHA:261519
Babesiosis	Congestive heart failure, Myocardial infarction	ORPHA:108
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Acrocraniofacial Dysostosis	Low-set, posteriorly rotated ears, Ptosis, Telecanthus, Abnormal pinna morphology, Abnormality of...	ORPHA:949
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Telecanthus, Posteriorly rotated ears, Hypertelorism, Large fleshy ears, Proptosis, L...	OMIM:263210
Fryns Microphthalmia Syndrome	Microphthalmia, Macrotia, Anophthalmia, Abnormality of the ear	OMIM:600776
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh...	ORPHA:79098
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Hypertelorism, Synophrys, Upslanted palpebral fissure, Microtia, Proptosis, Long eyelashes, Macro...	OMIM:620250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Left ventricular systolic dysfunction, Pigmentary retinopathy, Cerebral cortical atrophy, Facial ...	OMIM:613156
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis	ORPHA:2724
Hypercholesterolemia, Familial, 3	Xanthelasma, Corneal arcus	OMIM:603776
Braddock-Carey Syndrome 2	Microphthalmia, Downslanted palpebral fissures, Atresia of the external auditory canal, Hearing i...	OMIM:619981
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Optic atrophy, Spinocerebellar atrophy, Head tremor, Cochlear degene...	ORPHA:95433
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Classic Multiminicore Myopathy	Congestive heart failure, Mitral valve prolapse, Right ventricular hypertrophy, Right ventricular...	ORPHA:324604
Hypercholesterolemia, Familial, 1	Xanthelasma, Corneal arcus	OMIM:143890
Desbuquois Syndrome	Low-set, posteriorly rotated ears, Proptosis, Abnormal eyelash morphology	ORPHA:1425
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Cerebellar atrophy, ...	OMIM:267750
Developmental Delay With Variable Neurologic And Brain Abnormalities	Upslanted palpebral fissure, Long palpebral fissure, Microphthalmia, Macrotia, Sparse lateral eye...	OMIM:619694
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Failure to thrive, Anisocytosis	OMIM:604273
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Corneal opacity, Optic nerve hypoplasia, Abnormal left ventricular function, Astigma...	OMIM:301056
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor...	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Constrictive pericarditis, Arthritis	OMIM:208250
Coloboma Of Macula	Macular coloboma	OMIM:120300
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Angina pectoris, Myocardial infarction	OMIM:176670
Multiple Acyl-Coa Dehydrogenase Deficiency	Telecanthus, Acute pancreatitis, Congestive heart failure, Abnormal heart morphology, Cardiomyopa...	ORPHA:26791
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy, Ptosis	OMIM:612291
Xeroderma Pigmentosum, Complementation Group G	Tremor, Microphthalmia	OMIM:278780
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Corneal opacity	OMIM:166300
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia	ORPHA:90037
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori...	ORPHA:790
Polyarteritis Nodosa	Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension	ORPHA:767
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Spotty hypopigmentation, Heart murmur, Hyperpigmentation of the skin	ORPHA:1867
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	ORPHA:2526
Developmental And Epileptic Encephalopathy 1	EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, Dystonia, Microphthalmia, Global bra...	OMIM:308350
Cherubism	Macular scar, Optic neuropathy, Lower eyelid retraction, Proptosis, Marcus Gunn pupil	OMIM:118400
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:310200
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, E...	ORPHA:394
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormal eyelid morphology, Abnorma...	ORPHA:193
Short Syndrome	Posterior embryotoxon, Telecanthus, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the...	ORPHA:3163
Adams-Oliver Syndrome 2	Hypertelorism, Optic atrophy, Cerebral atrophy, Protruding ear, Narrow palpebral fissure, Low-set...	OMIM:614219
Frontonasal Dysplasia 1	Epicanthus, Hypertelorism, Low-set ears, Conductive hearing impairment, Microphthalmia, Ptosis	OMIM:136760
Baraitser-Winter Syndrome 1	Epicanthus, Highly arched eyebrow, Hypertelorism, Sensorineural hearing impairment, Low-set ears,...	OMIM:243310
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Hypercholesterolemia, Familial, 2	Xanthelasma, Corneal arcus	OMIM:144010
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Developmental And Epileptic Encephalopathy 80	Optic disc pallor, Posteriorly rotated ears, Abnormal pinna morphology, Uplifted earlobe, Hyperte...	OMIM:618580
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure	ORPHA:3077
Gm1 Gangliosidosis	Corneal opacity, Abnormal retinal vascular morphology, Congestive heart failure, Patent ductus ar...	ORPHA:354
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Temtamy Syndrome	Highly arched eyebrow, Hypertelorism, Chorioretinal coloboma, Low-set ears, Microphthalmia, Downs...	OMIM:218340
Hypophosphatasia, Childhood	Proptosis	OMIM:241510
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Epicanthus, Thick eyebrow, Corpus callosum atrophy, Gliosis, Cerebral cortica...	OMIM:248500
Ichthyosis, Congenital, Autosomal Recessive 4B	Proptosis, Ectropion	OMIM:242500
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Patent ductus arteriosus, Corneal opacity	OMIM:618961
Muenke Syndrome	Ptosis, Sensorineural hearing impairment, Proptosis, Hypertelorism	ORPHA:53271
Cinca Syndrome	Progressive sensorineural hearing impairment, Papilledema, Proptosis, Hearing impairment	OMIM:607115
Chromosome 18Q Deletion Syndrome	Atrial septal defect, Epicanthus, Absence of the pulmonary valve, Ventricular septal defect, Cong...	OMIM:601808
8Q21.11 Microdeletion Syndrome	Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Blepharophimosis, Dow...	ORPHA:284160
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Proptosis, Long eyelashes, Hypertelorism	OMIM:618577
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Epicanthus, Cataract, Narrow palpebral fissure, Astigmatism, Retinal coloboma, Horizontal eyebrow	OMIM:618571
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycori...	OMIM:175780
Cockayne Syndrome Type 3	Optic disc pallor, Cataract, Retinal atrophy, Retinal dystrophy, Subdural hemorrhage, Retinal hem...	ORPHA:90324
Neurooculocardiogenitourinary Syndrome	Epicanthus, Hypertelorism, Sensorineural hearing impairment, Low-set ears, Microphthalmia	OMIM:618652
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ptosis, Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,...	ORPHA:42775
Oculoectodermal Syndrome	Epicanthus, Transient ischemic attack, Patent ductus arteriosus, Chorioretinal atrophy, Hyperpigm...	OMIM:600268
Ritscher-Schinzel Syndrome 4	Hypertelorism, Hypotelorism, Athetosis, Deeply set eye, Proptosis, Macrotia, Downslanted palpebra...	OMIM:619435
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Congestive heart failure, Lymphadenitis, Dilated cardiomyopathy, Hematochezia, Cardiomyop...	OMIM:615895
Scimitar Syndrome	Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges...	ORPHA:185
Mucopolysaccharidosis-Plus Syndrome	Epicanthus, Telecanthus, Congestive heart failure, Patent ductus arteriosus, Synophrys, Recurrent...	OMIM:617303
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long eyelashes, Cryp...	OMIM:615877
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent...	OMIM:301500
Pediatric-Onset Graves Disease	Episcleritis, Atrial fibrillation, Abnormal eyelid morphology, Keratitis, Congestive heart failur...	ORPHA:525731
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Epicanthus, Highly arched eyebrow, EEG abnormality, Low-set ears, Ang...	OMIM:618804
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Tricuspid regurgitation, Corneal opacity, Chorioretinal dysp...	ORPHA:2556
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Kapur-Toriello Syndrome	Patent ductus arteriosus, Retinal coloboma, Iris coloboma	ORPHA:2328
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Trisomy 13	Anophthalmia, Abnormal retinal vascular morphology, Abnormal eyelash morphology, Sensorineural he...	ORPHA:3378
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Joubert Syndrome 14	Epicanthus, Posteriorly rotated ears, Morning glory anomaly, Hypertelorism, Highly arched eyebrow...	OMIM:614424
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Microcephaly 3, Primary, Autosomal Recessive	Mixed hearing impairment, Proptosis, Sensorineural hearing impairment	OMIM:604804
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Proptosis, Low-set ears, Ptosis	ORPHA:2522
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Proptosis	ORPHA:85172
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Hearing impairment	OMIM:610023
Thanatophoric Dysplasia	Proptosis, Downslanted palpebral fissures, Low-set ears, Hearing impairment	ORPHA:2655
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Iridocyclitis, Keratoconjunctivitis, Perifoveal ring of hyperautofluorescence, Pigmenta...	OMIM:240300
Aceruloplasminemia	Abnormality of retinal pigmentation, Congestive heart failure, Blepharospasm, Macular degeneratio...	ORPHA:48818
Trichothiodystrophy	Epicanthus, Developmental cataract, Microcornea, Macular degeneration, Keratoconjunctivitis sicca...	ORPHA:33364
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration	OMIM:239000
Microhydranencephaly	Athetosis, Macrotia, Proptosis	OMIM:605013
Crouzon Syndrome	Hypertelorism, Optic atrophy, Proptosis, Conjunctivitis, Atresia of the external auditory canal, ...	OMIM:123500
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Wagro Syndrome	Cataract, Corneal opacity, Hypertension, Aniridia, Downslanted palpebral fissures, Ptosis	OMIM:612469
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Pigmentary retinopathy, Downslanted palpebral fissures, Hypertension	ORPHA:110
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Congestive heart failure, Patent ductus arteriosus, Cardiomyopathy...	OMIM:616866
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Interictal EEG abnormality, EEG with focal spike waves, Blepharospasm, Proptosis	ORPHA:352582
Dietary Iron Overload Disease	Viral hepatitis, Congestive heart failure, Peritonitis, Hepatitis, Abnormal heart morphology, Hep...	ORPHA:139507
Ogden Syndrome	Torticollis, Cerebral atrophy, Proptosis, Low-set ears, Macrotia, Downslanted palpebral fissures,...	ORPHA:276432
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Crouzon Syndrome With Acanthosis Nigricans	Proptosis, Hypertelorism	OMIM:612247
Lateral Meningocele Syndrome	Epicanthus, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Hypertelorism, Sens...	ORPHA:2789
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Congestive heart failure	ORPHA:52430
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Hypotension, Arrhythmia, Pancreatitis	ORPHA:188
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Aganglionic megacolon, Blepharophimosis, Abnormality of the ear, Eyelid ...	ORPHA:3339
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Epicanthus, Hypertelorism, Sparse eyebrow, Synophrys, Protruding ear, Upslanted palpebral fissure...	OMIM:620098
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling, Telecanthus	OMIM:617102
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Proptosis, Downslanted palpebral fissures	ORPHA:157965
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cyclopia, Proptosis, Low-set ears, Hypertelorism	ORPHA:2165
Hurler Syndrome	Corneal opacity, Angina pectoris, Abnormality of skin pigmentation, Cardiomyopathy, Hypertension,...	ORPHA:93473
Oculocerebrocutaneous Syndrome	Corneal opacity, Hypopigmented skin patches, Eyelid coloboma, Iris coloboma, Ptosis	ORPHA:1647
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Retinal atrophy, Corpus callosum atrophy, Iridocyclitis, Parietal cortical at...	ORPHA:412057
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Peters anomaly, H...	OMIM:309801
Chime Syndrome	Epicanthus, Corneal opacity, Upslanted palpebral fissure, Retinal coloboma, Cerebral cortical atr...	ORPHA:3474
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr...	ORPHA:139402
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa...	ORPHA:980
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg...	OMIM:618278
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Joubert Syndrome 37	Posteriorly rotated ears, Hypertelorism, Deeply set eye, Low-set ears, Microphthalmia, Ptosis	OMIM:619185
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Alport Syndrome	Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Macular degeneration, Hy...	ORPHA:63
Kearns-Sayre Syndrome	Pigmentary retinopathy, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia, Ptosis	OMIM:530000
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure	ORPHA:53721
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Hypotension, Infectious encephalitis	ORPHA:83317
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Palpebral edema, Microtia, Proptosis, Abnormal sha...	ORPHA:363659
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Upslanted palpebral fissure, Deeply set eye, Proptosis	OMIM:618707
Tyshchenko Syndrome	Proptosis, Posteriorly rotated ears, Low-set ears, Ptosis	OMIM:615102
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Abnormal left ventricular fun...	ORPHA:3208
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Sensorineural hearing impairment, Abnormality of th...	OMIM:214150
Rhizomelic Limb Shortening With Dysmorphic Features	Proptosis, Downslanted palpebral fissures	OMIM:618821
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal...	ORPHA:90354
Alpha-Mannosidosis	Cataract, Corneal opacity	ORPHA:61
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur, Bacterial endocarditis	ORPHA:1054
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Abnormality of skin pigmentation, Keratoc...	ORPHA:1806
Jackson-Weiss Syndrome	Ptosis, Proptosis, Hypertelorism	ORPHA:1540
Fish-Eye Disease	Angina pectoris, Corneal opacity	ORPHA:79292
Frontofacionasal Dysplasia	Telecanthus, Hypertelorism, Blepharophimosis, Upper eyelid coloboma, Absent inner eyelashes, Limb...	ORPHA:1791
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Unilateral narrow palpebral fissure	OMIM:618727
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a...	OMIM:216550
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Blepharophimosis, ...	ORPHA:233
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
20Q13.33 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Highly arched eyebrow, Hypertelorism, Prominent cr...	ORPHA:261311
Monosomy 18Q	Epicanthus, Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, C...	ORPHA:1600
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation...	ORPHA:137675
Autosomal Recessive Distal Osteolysis Syndrome	Proptosis	ORPHA:2776
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure	ORPHA:137608
Mucopolysaccharidosis Type 1	Corneal opacity, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyopathy, Retinopathy	ORPHA:579
Distal Deletion 6P	Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of...	ORPHA:96125
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Highly arched eyebrow, T...	OMIM:618460
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Nongran...	ORPHA:91500
Drug-Induced Lupus Erythematosus	Pericarditis, Pericardial effusion, Prolonged QTc interval, Malar rash, Serositis	ORPHA:231111
Cenani-Lenz Syndrome	Ectropion, Hearing impairment, Hypertelorism, Protruding ear, Proptosis, Downslanted palpebral fi...	ORPHA:3258
Tetrasomy 5P	Epicanthus, Congestive heart failure, Heart murmur, Upslanted palpebral fissure, Pulmonary arteri...	ORPHA:3309
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Arthritis, Pulmonary arterial hypertension,...	ORPHA:220393
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Congestive...	ORPHA:363618
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral valve prolapse, Mitral...	ORPHA:2848
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Cerebellar atrophy, Optic atrophy, Deeply set eye, Mic...	OMIM:615663
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Axenfeld anomaly, Telangiectasia	OMIM:266270
Relapsing Polychondritis	Episcleritis, Abnormal endocardium morphology, Pericarditis, Chondritis of pinna, Keratitis, Myoc...	ORPHA:728
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Long eyebrows, Optic atrophy, Long eyelashes, S-shaped palpebral fissures, Ptosis	OMIM:201180
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertelorism, Hearing abnormality, Aplasia/Hypoplasia of the earlobes, Optic atrophy, Proptosis,...	ORPHA:1555
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Optic atrophy, Chorioretinal coloboma, Ble...	ORPHA:494344
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu...	ORPHA:2326
Systemic-Onset Juvenile Idiopathic Arthritis	Juvenile rheumatoid arthritis, Anterior uveitis, Pericarditis, Skin rash	ORPHA:85414
19P13.12 Microdeletion Syndrome	Epicanthus, Hypertelorism, External ear malformation, Sensorineural hearing impairment, Synophrys...	ORPHA:254346
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P...	ORPHA:31205
Machado-Joseph Disease	Cerebellar atrophy, Proptosis, Abnormal autonomic nervous system physiology, Dystonia, Ptosis	OMIM:109150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Retinal dystrophy, Facial palsy	OMIM:613155
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure, Epicanthus	ORPHA:2505
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle...	ORPHA:157850
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Myocardi...	ORPHA:36234
Distal Deletion 10Q	Epicanthus, Congenital sensorineural hearing impairment, Cochlear malformation, Protruding ear, H...	ORPHA:96148
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Abnormal cardiomyocyte morphology, Congestive heart failure, Dilated cardiomyopathy, Portal hyper...	ORPHA:367
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Ptosis, Anophthalmia, Posteriorly rotated ears, Epicanthus, Hypertelorism, C...	ORPHA:264200
Cinca Syndrome	Retrobulbar optic neuritis, Sensorineural hearing impairment, EEG abnormality, Pseudopapilledema,...	ORPHA:1451
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, Ab...	ORPHA:636
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Retinal detachment, Optic disc pallor, Corneal opacity, Patent ductus arter...	ORPHA:464311
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Congenital Varicella Syndrome	Microphthalmia, Cerebral cortical atrophy	ORPHA:291
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Simple ear	OMIM:619318
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Low-set ears, Hypertelorism	ORPHA:93267
Chondrodysplasia With Joint Dislocations, Gpapp Type	Proptosis, Hearing impairment	OMIM:614078
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Posteriorly rotated ears, Hypertelorism, Upslanted palpebral fissure, Low-set ears, B...	OMIM:156610
Legionnaires Disease	Pericarditis, Myocarditis, Hepatitis, Endocarditis, Hypotension, Arrhythmia, Infectious encephali...	ORPHA:549
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Patent ductus arteriosus, Narrow palpe...	OMIM:619869
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Epicanthus, Cataract, Optic atrophy, Downslanted palpebral f...	ORPHA:192
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Posteriorly rotated ears, Hypertelorism, Cerebral atrophy, Upslanted palpebra...	OMIM:611209
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Opacification of the corneal stroma	OMIM:230650
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Pancreatitis	ORPHA:2348
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Abnormal pupil morphology	ORPHA:101082
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Monosomy 18P	Epicanthus, Generalized dystonia, Protruding ear, Abnormal antihelix morphology, Microphthalmia, ...	ORPHA:1598
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Epicanthus, Hypertelorism, Optic atrophy, Proptosis, Thick eyebrow	OMIM:614800
Oculocerebrocutaneous Syndrome	Microphthalmia, Eyelid coloboma, Anophthalmia, Orbital cyst	OMIM:164180
Marshall Syndrome	Retinal detachment, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Sensorineural hearing impair...	ORPHA:560
Xk Aprosencephaly Syndrome	Microphthalmia, Hypotelorism	ORPHA:3469
Cockayne Syndrome	Lentiglobus, Retinal arteriolar constriction, Gliosis, Retinal degeneration, Retinal atrophy, Abn...	ORPHA:191
Werner Syndrome	Abnormality of retinal pigmentation, Cataract, Telangiectasia of the skin, Myocardial infarction,...	ORPHA:902
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Melanocytic nevus, Multiple cafe-au-lait spots, Generalized ...	ORPHA:1969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Synophrys, Optic atrophy, Atrioventricular block, Central nervous syst...	ORPHA:581
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy...	ORPHA:99901
Avian Influenza	Pneumonia, Congestive heart failure, Hepatitis, Conjunctivitis, Infectious encephalitis, Myelitis	ORPHA:454836
Wyburn-Mason Syndrome	Retinal vascular malformation, Proptosis, Tinnitus, Hearing impairment	ORPHA:53719
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Abnormal pericardium morphology, Congestive heart failure, Acute colitis	ORPHA:67
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating p...	ORPHA:79277
Juvenile Nasopharyngeal Angiofibroma	Proptosis	ORPHA:289596
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Epicanthus, Telecanthus, Congestive heart failure, Patent d...	ORPHA:505248
Atelosteogenesis Type I	Telecanthus, Hypertelorism, Proptosis, Retinal dysplasia, Low-set ears	ORPHA:1190
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary ...	ORPHA:70591
Revesz Syndrome	Exudative retinopathy, Megalocornea, Fine, reticulate skin pigmentation, Leukocoria	OMIM:268130
Pparg-Related Familial Partial Lipodystrophy	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Pancreatitis	ORPHA:79083
Adult-Onset Still Disease	Pericarditis, Skin rash, Myocarditis, Hepatitis, Arthritis	ORPHA:829
Oculotrichoanal Syndrome	Anophthalmia, Hypertelorism, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia...	ORPHA:2717
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimosis, Iris coloboma	ORPHA:3374
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu...	ORPHA:99050
De Barsy Syndrome	Epicanthus, Cataract, Corneal opacity, Patent ductus arteriosus, Downslanted palpebral fissures, ...	ORPHA:2962
2Q31.1 Microdeletion Syndrome	Epicanthus, Hypertelorism, Synophrys, Optic disc coloboma, Proptosis, Low-set ears, Microphthalmi...	ORPHA:251014
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st...	OMIM:177850
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Epicanthus, Posteriorly rotated ears, Cerebral atrophy, Hypsarrhythmia, Deeply set eye, Low-set e...	OMIM:618494
Hypomandibular Faciocranial Dysostosis	Optic disc coloboma, Upslanted palpebral fissure, Proptosis, Low-set ears, Downslanted palpebral ...	ORPHA:1790
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Left ven...	ORPHA:746
Mucopolysaccharidosis, Type Ii	Abnormal heart valve morphology, Congestive heart failure, Recurrent pneumonia, Recurrent otitis ...	OMIM:309900
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Thickened helices, Hypertelorism, Tremor, Synophrys, Nasolacrimal duct obstru...	OMIM:300966
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Telecanthus, Hypertelorism, Upslanted palpebral fissure, Low-set ears, Microphthalmia	ORPHA:228390
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Pericarditis, Myositis, Skin rash, Gastritis, Myocarditis, Arthritis...	ORPHA:809
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Distichiasis	OMIM:600462
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Proptosis, Hearing impairment	OMIM:274300
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Trisomy 18	Abnormality of retinal pigmentation, Epicanthus, Cataract, Microcornea, Blepharophimosis, Cyclopi...	ORPHA:3380
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Epicanthus, Cataract, Brushfield spots, Patent ductus arteriosus, Upslanted pa...	OMIM:214100
Focal Dermal Hypoplasia	Corneal opacity, Telangiectasia of the skin, Ectopia lentis, Patent ductus arteriosus, Hypoplasia...	ORPHA:2092
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Telecanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Bilateral microphthalmos, Eyelid c...	OMIM:607597
Maternal Uniparental Disomy Of Chromosome 2	Retinal degeneration	ORPHA:96179
Short Tarsus With Absence Of Lower Eyelashes	Absent lower eyelashes, Hypoplasia of the lower eyelids	OMIM:600269
Joubert Syndrome 22	Microphthalmia, Retinal dysplasia, Temporal cortical atrophy	OMIM:615665
Martsolf Syndrome 1	Epicanthus, Cardiac arrest, Congestive heart failure, Cardiomyopathy, Downslanted palpebral fissures	OMIM:212720
Neuromuscular Oculoauditory Syndrome	Epicanthus, Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelia...	OMIM:618733
Cerebrooculofacioskeletal Syndrome 4	Posteriorly rotated ears, Abnormal retinal morphology, Bilateral microphthalmos, EEG abnormality,...	OMIM:610758
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction, Myocarditis, Uveitis,...	ORPHA:3452
Microphthalmia, Syndromic 8	Blepharophimosis, Microphthalmia, Short palpebral fissure	OMIM:601349
Fanconi Anemia, Complementation Group S	Epicanthus, Hypertelorism, Upslanted palpebral fissure, Long eyelashes, Blepharophimosis, Microph...	OMIM:617883
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia	ORPHA:90033
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arthritis, Arrhythmi...	ORPHA:465508
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy	OMIM:609015
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ptosis, Epicanthus, Hypertelorism, Bilateral microphthalmos, Multifocal epileptiform discharges, ...	ORPHA:369891
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:248340
Gm1-Gangliosidosis, Type I	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart val...	OMIM:230500
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Hypermelanotic macule, Entropi...	ORPHA:910
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Autosomal Recessive Cutis Laxa Type 2A	Downslanted palpebral fissures, Abnormal cornea morphology, Corneal opacity	ORPHA:357058
Generalized Pustular Psoriasis	Pustule, Congestive heart failure, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythr...	ORPHA:247353
Alstrom Syndrome	Cone/cone-rod dystrophy, Congestive heart failure, Dilated cardiomyopathy, Pigmentary retinopathy...	OMIM:203800
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Sparse eyebrow, Synophrys, Buphthalmo...	ORPHA:495875
Capillary Malformation-Arteriovenous Malformation	Epistaxis, High-output congestive heart failure, Congestive heart failure, Telangiectasia, Abnorm...	ORPHA:137667
Brittle Cornea Syndrome 1	Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, R...	OMIM:229200
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Hyperpigmentation of the skin, Optic atrophy, Blepharospasm, Pigmentary retinopat...	OMIM:234200
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, De...	ORPHA:580
Marshall-Smith Syndrome	Conductive hearing impairment, Proptosis, Optic atrophy, Hypertelorism	ORPHA:561
Congenital Enterovirus Infection	Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Cardiomyopathy, Hypotension, Infectious ...	ORPHA:292
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Epicanthus, Hypertelorism, Long palpebral fissure, Microphthalmia, Hypopigmen...	ORPHA:163649
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency	OMIM:166210
Bainbridge-Ropers Syndrome	Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Hypertelorism, Synophrys, Upslanted ...	OMIM:615485
Mmep Syndrome	Microphthalmia	ORPHA:3434
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, Cardiomegaly	OMIM:619259
Renal Coloboma Syndrome	Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia	ORPHA:1475
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Optic atrophy, Low-set ears, Hypertelorism	OMIM:612379
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Abnormal vestibular function, Cerebellar atrophy, Degener...	ORPHA:276244
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Lissencephaly 8	Microphthalmia, Optic atrophy	OMIM:617255
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Cataract, Hypermelanotic macule, Optic atrophy, Uveitis, Pig...	ORPHA:90321
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Abnormal heart valve morphology,...	ORPHA:781
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Tangier Disease	Myocardial infarction, Cicatricial ectropion, Facial diplegia, Opacification of the corneal strom...	OMIM:205400
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Atrophy of the spinal cord, Frontal cortical atrophy, Cerebral cortical ...	ORPHA:2822
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormal eyelid morphology, Patent ductus arteriosus, Upper eyelid coloboma, Astigm...	ORPHA:2095
Listeriosis	Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Congestive heart failure, Peritonit...	ORPHA:533
Apolipoprotein A-I Deficiency	Xanthelasma, Opacification of the corneal stroma	ORPHA:425
Erdheim-Chester Disease	Osteomyelitis, Skin rash, Abnormal pericardium morphology, Congestive heart failure, Xanthelasma,...	ORPHA:35687
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Hyperkalemic Periodic Paralysis	Congestive heart failure, Arrhythmia	ORPHA:682
Moebius Syndrome	Epicanthus, Abnormal pinna morphology, Hypertelorism, Congenital fibrosis of extraocular muscles,...	OMIM:157900
Aminopterin/Methotrexate Embryofetopathy	Low-set, posteriorly rotated ears, Epicanthus, Proptosis, Hypertelorism	ORPHA:1908
Cardiofaciocutaneous Syndrome 1	Ptosis, Absent eyebrow, Epicanthus, Posteriorly rotated ears, Hypertelorism, Absent eyelashes, Op...	OMIM:115150
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity, Hypermyelinated retinal nerve fibers, Shallow orbits	OMIM:601812
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure	ORPHA:75564
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Aortic regurgitation, Epicanthus, Cataract, Tricuspid regurgitation, Palpebra...	OMIM:614866
Carney Complex, Type 1	Congestive heart failure, Cardiac myxoma	OMIM:160980
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys, Deeply set eye	ORPHA:261272
Chromosome 1Q41-Q42 Deletion Syndrome	Hypertelorism, Sparse eyebrow, Hypotelorism, Upslanted palpebral fissure, Deeply set eye, Microti...	OMIM:612530
Thanatophoric Dysplasia Type 2	Proptosis, Hearing impairment	ORPHA:93274
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Congestive heart failure, Upslanted palpebral fissure, Perimembran...	OMIM:608779
Scheie Syndrome	Abnormal nerve conduction velocity, Corneal opacity, Aortic regurgitation	ORPHA:93474
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Scedosporiosis	Pericarditis, Sinusitis, Osteomyelitis, Pneumonia, Arthralgia/arthritis, Endocarditis, Septic art...	ORPHA:449280
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Deeply set eye, Hearing impairment	OMIM:610756
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Nail bed telangiectasia, Glomerulonephrit...	ORPHA:90291
Congenital Generalized Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:528
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Pericarditis, Fasciitis, Skin rash, Orchitis, Peritonitis, Vasculitis, Uveitis, Arthrit...	ORPHA:32960
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Otospondylomegaepiphyseal Dysplasia	Retinal detachment, Posteriorly rotated ears, Sensorineural hearing impairment, Proptosis, Degene...	ORPHA:1427
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy	OMIM:616881
Apert Syndrome	Hypertelorism, Sensorineural hearing impairment, Optic atrophy, Abnormal semicircular canal morph...	ORPHA:87
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Optic atrophy, Keratoconjunctivitis sicca, Microphthalmia, Macrotia...	OMIM:234050
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Epicanthus, Telecanthus, Abnormal auditory evoked potentials, Hearing impairm...	OMIM:193700
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,...	OMIM:231550
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Houge-Janssens Syndrome 3	Epicanthus, Proptosis, Hypertelorism	OMIM:618354
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Ani...	ORPHA:29072
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy, Ptosis	ORPHA:436271
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Proptosis, Downslanted palpebral fissures, Hypertelorism	ORPHA:83
Prolidase Deficiency	Abnormality of retinal pigmentation, Hypertelorism, Proptosis, Abnormality of the middle ear, Hea...	ORPHA:742
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Optic disc pallor	OMIM:613730
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Microphthalmia, Optic nerve hypoplasia, EEG abnormality	OMIM:614833
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma	ORPHA:251038
Carpenter Syndrome 1	Epicanthus, Telecanthus, Patent ductus arteriosus, Optic atrophy, Cerebral atrophy, Microcornea, ...	OMIM:201000
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Protruding ear, Low-set ears, Microphthalmia, Hear...	ORPHA:85284
Chops Syndrome	Hypertelorism, Synophrys, Optic atrophy, Proptosis, Long eyelashes, Thickened helices, Thick eyeb...	OMIM:616368
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Sensorineural hearing impairment, Proptosis, Hypertelorism	OMIM:602482
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Pulmonary embolism, Atrophy of the spinal cord, Dilated cardiomyopathy, Optic a...	ORPHA:79282
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Arthritis, Cerebral ischemia, Arrhythm...	ORPHA:397
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hearing abnormality, Cupped ear, Ocular albinism, Upslanted palpebral fissure, Microtia, Blepharo...	ORPHA:1352
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, EEG with focal spike waves, Tremor, EEG with irregular general...	ORPHA:1942
Vascular Malformation, Primary Intraosseous	Proptosis	OMIM:606893
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Telecanthus, Proptosis	ORPHA:2774
Machado-Joseph Disease Type 1	Cerebellar atrophy, Abnormal vestibular function, Proptosis, Degeneration of the striatum, Dystonia	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Abnormal vestibular function, Proptosis, Degeneration of the striatum, Dystonia	ORPHA:276241
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Pfeiffer Syndrome Type 1	Hypertelorism, Proptosis, Low-set ears, Hearing impairment	ORPHA:93258
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Lowry-Maclean Syndrome	Developmental glaucoma, Megalocornea, Corneal opacity, Downslanted palpebral fissures	ORPHA:2409
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Optic...	ORPHA:909
Kniest Dysplasia	Conductive hearing impairment, Retinal detachment, Proptosis, Recurrent otitis media	OMIM:156550
Senior-Loken Syndrome 8	Rod-cone dystrophy, Retinal dystrophy, Macular atrophy	OMIM:616307
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Synovitis, Arthritis, Rhinitis, Chron...	ORPHA:47612
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o...	ORPHA:117
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op...	ORPHA:217085
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid regurgitation, Abnormal size of the palpebral fissures, Corneal dystrophy, Abnormal vit...	ORPHA:1101
Knobloch Syndrome 2	Retinal detachment, Anterior cortical cataract, Vitreous floaters, Patent ductus arteriosus, Vitr...	OMIM:618458
Trichinellosis	Facial palsy, Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, A...	ORPHA:863
Congenital Fibrosis Of Extraocular Muscles	Cataract, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Anisocoria, Congenital fi...	ORPHA:45358
Congenital Myopathy 22A, Classic	Bilateral ptosis, Synophrys, Deeply set eye, Proptosis, Downslanted palpebral fissures, Ptosis	OMIM:620351
Geleophysic Dysplasia 1	Tricuspid stenosis, Congestive heart failure, Upslanted palpebral fissure, Aortic valve stenosis,...	OMIM:231050
Trichothiodystrophy 3, Photosensitive	Hearing impairment, Hypotelorism, Low-set ears, Microphthalmia, Ectropion	OMIM:616395
Cockayne Syndrome A	Cerebellar atrophy, Cataract, Retinal atrophy, Abnormal auditory evoked potentials, Decreased ner...	OMIM:216400
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Optic disc pallor, Aortic regurgitation, Cataract, Corneal opacity, Highly ar...	ORPHA:309282
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia, Low-set ears	OMIM:613885
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Band keratopathy, Uveitis, Hypertension, Iritis...	OMIM:186580
Xeroderma Pigmentosum, Complementation Group D	Entropion, Sensorineural hearing impairment, Choreoathetosis, Keratoconjunctivitis sicca, Conjunc...	OMIM:278730
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Telangiectasia of the skin, Patent ductus arteriosus, Leukocoria, Multiple ca...	ORPHA:1556
Robinow Syndrome, Autosomal Recessive 2	Posteriorly rotated ears, Hypertelorism, Proptosis, Long eyelashes, Low-set ears	OMIM:618529
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Ptosis, Blepharophimosis, Microtia, Recurrent otitis media, Microphthalmia, Abnormality of the ou...	ORPHA:2728
Cutis Laxa, Autosomal Recessive, Type Iid	Atrial septal defect, Entropion, Hypoplastic right heart, Congestive heart failure, Right bundle ...	OMIM:617403
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op...	ORPHA:217093
Vici Syndrome	Epicanthus, Congestive heart failure, Dilated cardiomyopathy, Chronic mucocutaneous candidiasis, ...	OMIM:242840
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Corneal opacity, Hypopigmentation of the skin	OMIM:163200
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia, Cryptophthalmos, Ankyloblepharon	OMIM:123570
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Congestive heart failure	OMIM:619355
Heart And Brain Malformation Syndrome	Attached earlobe, Posteriorly rotated ears, Hypertelorism, Cerebral atrophy, Brain atrophy, Low-s...	OMIM:616920
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Cerebellar atrophy, Congestive heart failure, Abnormal fundus morphology...	ORPHA:94147
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Microphthalmia, Epicanthus	ORPHA:3191
Dural Sinus Malformation	Papilledema, Pulsatile tinnitus, Ear pain, Proptosis, Chemosis	ORPHA:97339
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physio...	ORPHA:247234
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Optic disc pallor, Cerebellar atrophy, Optic nerve hypoplasia,...	ORPHA:468631
Bohring-Opitz Syndrome	Epicanthus, Posteriorly rotated ears, Hypertelorism, Upslanted palpebral fissure, Proptosis, Abno...	OMIM:605039
Lcat Deficiency	Corneal opacity	ORPHA:650
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypertelorism	ORPHA:1135
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failure, Hypertens...	ORPHA:1830
Abetalipoproteinemia	Abnormality of retinal pigmentation, Congestive heart failure, Keratoconjunctivitis sicca, Cornea...	ORPHA:14
Fibrochondrogenesis	Hypertelorism, Hearing abnormality, Proptosis, Low-set ears, Downslanted palpebral fissures	ORPHA:2021
Scalp-Ear-Nipple Syndrome	Epicanthus, Telecanthus, Palpebral edema, Blepharophimosis, Congestive heart failure, Cardiac myx...	OMIM:181270
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Epicanthus, Cataract, Optic atrophy, Cerebral atrophy, Hypoplasia of the iris...	OMIM:251300
Neurotrophic Keratopathy	Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem...	ORPHA:137596
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Hypertelorism, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryp...	OMIM:248450
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Posteriorly rotated ears, Hypertelorism, Proptosis, Low-set ears, Ptosis	OMIM:613385
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Sensorineural hearing impairment, Proptosis	ORPHA:440354
Woolly Hair Nevus	Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy, Ptosis	OMIM:220110
Multiple Pterygium-Malignant Hyperthermia Syndrome	Posteriorly rotated ears, Hypotelorism, Proptosis, Conductive hearing impairment, Downslanted pal...	ORPHA:2215
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Chemosis, Nephritis, Infectious enceph...	ORPHA:73263
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Mucolipidosis Iii Gamma	Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma	OMIM:252605
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C...	ORPHA:466768
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Low-set ears, Blepharophimo...	ORPHA:404440
Neu-Laxova Syndrome 2	Ablepharon, Proptosis, Low-set ears, Hypertelorism	OMIM:616038
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Patent ductus arteriosus, Co...	OMIM:206900
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Cupped ear, Blepharophimosis, Microphthalmia, Epicanthus inve...	OMIM:110100
Hurler-Scheie Syndrome	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity	OMIM:607015
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral...	OMIM:123700
Autosomal Recessive Cutis Laxa Type 1	Abnormal cardiac ventricular function, Congestive heart failure, Dermatochalasis, Recurrent pneum...	ORPHA:90349
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Optic nerve hypoplasia, Proptosis, Low-set ears, Shallow orbits, Intention tremor	OMIM:620029
X-Linked Dominant Chondrodysplasia Punctata	Abnormal pinna morphology, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Sensorineural hearing...	ORPHA:35173
Caffey Disease	Proptosis	ORPHA:1310
Microphthalmia With Limb Anomalies	Anophthalmia, Posteriorly rotated ears, Abnormal eyelash morphology, Low-set ears, Blepharophimos...	OMIM:206920
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Posteriorly rotated ears, Microphthalmia, Congenital sensorineural hearing impairment, Shallow or...	OMIM:617306
Hennekam-Beemer Syndrome	Optic atrophy, Upslanted palpebral fissure, Microtia, Proptosis, Conductive hearing impairment, H...	ORPHA:2135
Robinow Syndrome, Autosomal Dominant 2	Mixed hearing impairment, Hypertelorism, Sensorineural hearing impairment, Upslanted palpebral fi...	OMIM:616331
Oculodentodigital Dysplasia, Autosomal Recessive	Epicanthus, Telecanthus, Sparse eyelashes, Large earlobe, Deeply set eye, Low-set ears, Microphth...	OMIM:257850
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Telecanthus, Anterior chamber synechiae	OMIM:601499
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Epicanthus, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior ch...	ORPHA:2479
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Posteriorly rotated ears, Hypertelorism, Sparse eyebrow, Upslanted palpebral ...	OMIM:617011
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Microtia	ORPHA:2547
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Microphthalmia, Ptosis	ORPHA:1915
Craniotubular Dysplasia, Ikegawa Type	Epicanthus, Optic neuropathy, Hypertelorism, Phthisis bulbi, Optic atrophy, Proptosis, Optic nerv...	OMIM:619727
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Myocarditis, Lymphadenitis...	ORPHA:2552
7Q31 Microdeletion Syndrome	Torticollis, Epicanthus, Telecanthus, Short palpebral fissure, Hypertelorism, Hypoplasia of the c...	ORPHA:251061
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Abnormal eyelid morphology, Myoc...	ORPHA:221
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle...	ORPHA:3240
Gaucher Disease, Type I	Macular atrophy, Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, ...	OMIM:230800
Sclerosteosis 1	Papilledema, Facial palsy, Hypertelorism, Optic atrophy, Proptosis, Hearing impairment	OMIM:269500
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Abnormal autonom...	OMIM:256800
Shprintzen-Goldberg Craniosynostosis Syndrome	Telecanthus, Abnormal pinna morphology, Posteriorly rotated ears, Hypertelorism, Proptosis, Low-s...	OMIM:182212
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Uplifted earlobe, Hypertelorism, Cerebral atrophy, Low-set ears, Microphthalmia, Down...	OMIM:616449
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Sensorineural hearing impairment, Proptosis	OMIM:615381
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Corneal opacity, Developmental cataract	OMIM:616603
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Proptosis, Low-set ears	OMIM:617895
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Corpus callosum atrophy, Bilateral microphthalmos, Atrophy/Degeneration...	ORPHA:77299
Stevenson-Carey Syndrome	Downslanted palpebral fissures, Microphthalmia, Posteriorly rotated ears, Low-set ears	OMIM:611961
Shigellosis	Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Hypovolemic shock, C...	ORPHA:810
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation o...	ORPHA:29207
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Hyperpigmented streaks, Ventricular tachyca...	OMIM:300952
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Upslanted palpebral fissure, Low-se...	OMIM:613451
Beare-Stevenson Cutis Gyrata Syndrome	Posteriorly rotated ears, Hypertelorism, Optic atrophy, Proptosis, Atresia of the external audito...	OMIM:123790
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Iris coloboma, Sclerocornea	ORPHA:77298
Seckel Syndrome 10	Ventricular hypertrophy, Hypertension, Acute pancreatitis, Congestive heart failure	OMIM:617253
Pontocerebellar Hypoplasia, Type 10	Highly arched eyebrow, Synophrys, Proptosis, Long eyelashes, Long palpebral fissure, Cerebral cor...	OMIM:615803
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Cataract, Retinal pigment epithelial mottling, Dilated cardiomyopathy, Mitral regurgitation, Atro...	OMIM:607459
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Hypertelorism	ORPHA:1553
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Hypertelorism, Chorioretinal coloboma, Microphthalmia, Downslanted palpebr...	OMIM:619135
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Posteriorly rotated ears, Hypertelorism, Eyelid coloboma, Proptosis, Low-set ears, Downslanted pa...	ORPHA:2211
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Abnormal...	ORPHA:99027
Neuhauser Syndrome	Iridodonesis, Epicanthus, Hypoplasia of the iris, Megalocornea, Downslanted palpebral fissures, C...	OMIM:249310
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Deeply set eye, Low-set ears, Microphthalmia	ORPHA:2189
Ohdo Syndrome, X-Linked	Ptosis, Epicanthus, Posteriorly rotated ears, Hypertelorism, Sparse eyebrow, Microtia, Low-set ea...	OMIM:300895
Alagille Syndrome 1	Cataract, Band keratopathy, Abnormal anterior chamber morphology, Chorioretinal atrophy, Microcor...	OMIM:118450
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Upslanted palpebral fissure, Progressive hearing impairment, Proptosis	OMIM:619234
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Lo...	ORPHA:308552
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Optic disc pallor, Corneal opacity, Patent ductus arteriosus, Astigmatism, ...	ORPHA:464306
Oculofaciocardiodental Syndrome	Retinal detachment, Ptosis, Highly arched eyebrow, Sensorineural hearing impairment, Microphthalm...	ORPHA:2712
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Marden-Walker Syndrome	Epicanthus, Hypertelorism, Low-set ears, Blepharophimosis, Microphthalmia, Ptosis	OMIM:248700
Chitayat Syndrome	Proptosis, Hypertelorism	OMIM:617180
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Lagophthalmos, Bilateral ptosis, ...	ORPHA:404454
Prolidase Deficiency	Ptosis, Proptosis, Hypertelorism	OMIM:170100
Neu-Laxova Syndrome	Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Hypertelorism, Abnormal eyel...	ORPHA:2671
Moebius Syndrome	Epicanthus, Corneal opacity, Facial palsy, Multiple cafe-au-lait spots, Blepharitis, Ptosis	ORPHA:570
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Warburg Micro Syndrome 2	Asymmetry of the ears, Optic atrophy, Deeply set eye, Microphthalmia, Macrotia, Global brain atrophy	OMIM:614225
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Cafe-au-lait spot, Short palpebral fissure	ORPHA:364577
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu...	ORPHA:31826
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Angina pectoris, Low-output congestive heart failure, Cardi...	ORPHA:565612
Frontorhiny	Low-set, posteriorly rotated ears, Epicanthus, Hypertelorism, Microphthalmia, Congenital conducti...	ORPHA:391474
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Jacobsen Syndrome	Epicanthus, Telecanthus, Hypertelorism, Abnormal eyelash morphology, Optic atrophy, Nasolacrimal ...	OMIM:147791
Trisomy 10P	Epicanthus, Posteriorly rotated ears, Abnormal auditory evoked potentials, Hypertelorism, EEG wit...	ORPHA:171929
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid	OMIM:613001
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype...	ORPHA:280365
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Optic atrophy, Unilateral microphthalmos	OMIM:615085
Mycophenolate Mofetil Embryopathy	Hypertelorism, Eyelid coloboma, Anotia, Microtia, Atresia of the external auditory canal, Chorior...	ORPHA:268249
Oculodentodigital Dysplasia	Epicanthus, Cataract, Optic atrophy, Abnormality iris morphology, Microcornea, Upslanted palpebra...	ORPHA:2710
Shprintzen-Goldberg Syndrome	Telecanthus, Posteriorly rotated ears, Hypertelorism, Protruding ear, Proptosis, Low-set ears, Co...	ORPHA:2462
Late-Infantile/Juvenile Krabbe Disease	Tremor, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG ...	ORPHA:206443
Cole-Carpenter Syndrome 2	Proptosis, Downslanted palpebral fissures, Hypertelorism	OMIM:616294
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal...	ORPHA:529808
Acute Bilirubin Encephalopathy	Conjunctival icterus, Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal...	ORPHA:529799
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Abnormal pupil morphology, Aganglionic megacolon, Arrhythmia	ORPHA:2151
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati...	OMIM:608328
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Downslanted palpebral fissures, Deeply set eye	OMIM:614526
Spondylodysplastic Ehlers-Danlos Syndrome	Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Optic disc coloboma, Aor...	ORPHA:536471
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Proptosis, Ptosis	ORPHA:1323
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Epicanthus, Palpebral edema, Cardiomegaly, Sparse eyebrow, Congestive heart...	OMIM:252500
Leigh Syndrome	Ventricular septal defect, Eczema, Congestive heart failure, Hypertrophic cardiomyopathy, Ptosis	ORPHA:506
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Transient ischemic attack, Cholangitis, Supraventricular ar...	ORPHA:3260
Craniosynostosis 4	Proptosis, Optic nerve hypoplasia, Hypertelorism	OMIM:600775
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Proptosis, Downslanted palpebral fissures, Low-set ears, Hypertelorism	OMIM:235255
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif...	ORPHA:99827
Donohue Syndrome	Macrotia, Proptosis, Low-set ears	OMIM:246200
Scorpion Envenomation	Bundle branch block, Tachycardia, Acute pancreatitis, Cardiac conduction abnormality, Congestive ...	ORPHA:466677
X-Linked Intellectual Disability, Snyder Type	Unilateral ptosis, Asymmetry of the ears, Hypertelorism, Sparse eyebrow, Synophrys, Cupped ear, U...	ORPHA:3063
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage	ORPHA:33226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Deeply set e...	OMIM:614643
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Proptosis, Posteriorly rotated ears, Low-set ears	ORPHA:1865
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Holoprosencephaly	Epicanthus, Anophthalmia, Highly arched eyebrow, Hypertelorism, External ear malformation, Synoph...	ORPHA:2162
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hypertelorism, Abnormally large globe, Microtia, Proptosis, Downslanted palpebral fissures, Low-s...	OMIM:245600
Kosaki Overgrowth Syndrome	Xanthelasma, Proptosis, Downslanted palpebral fissures, Ptosis	OMIM:616592
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Recurrent otitis media, Congestive heart failure, Pulmonary arterial hypertension	OMIM:616482
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Pannicul...	ORPHA:508542
Mucopolysaccharidosis, Type Vii	Epicanthus, Corneal opacity, Cardiomyopathy, Neurodegeneration, Thick eyebrow	OMIM:253220
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Epicanthus, Congestive heart failure, Recurrent pneumonia, Arterial ...	OMIM:225400
Steinfeld Syndrome	Retinal coloboma, Iris coloboma	OMIM:184705
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Highly arched eyebrow, Congestive heart failure, Patent ductus arterio...	ORPHA:444077
Wolf-Hirschhorn Syndrome	Epicanthus, Sclerocornea, Highly arched eyebrow, Optic atrophy, Downslanted palpebral fissures, M...	ORPHA:280
Warburg Micro Syndrome 3	Optic atrophy, Blepharophimosis, Microphthalmia, Macrotia, Cerebral cortical atrophy	OMIM:614222
Robinow Syndrome, Autosomal Dominant 3	Epicanthus, Telecanthus, Hypertelorism, Upslanted palpebral fissure, Proptosis, Long eyelashes, L...	OMIM:616894
Congenital Myopathy 17	Telecanthus, Proptosis, Low-set ears, Downslanted palpebral fissures, Ptosis	OMIM:618975
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczema, Congestive heart failure, Patent foramen ovale, Bro...	ORPHA:391487
Baller-Gerold Syndrome	Epicanthus, Hypertelorism, Hypotelorism, Proptosis, Conductive hearing impairment	ORPHA:1225
Chédiak-Higashi Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Epistaxis, Dec...	ORPHA:167
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Epicanthus, Retinal pigment epithelial mottling, Progressive vitilig...	OMIM:251260
Isolated Ectopia Lentis	Hypertension, Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a...	OMIM:259770
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Lujo Hemorrhagic Fever	Shock, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatitis, Subconjunctival hemo...	ORPHA:319213
Arboleda-Tham Syndrome	Anteverted ears, Deeply set eye, Conjunctivitis, Chronic otitis media, Small earlobe, Sparse medi...	OMIM:616268
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Jackson-Weiss Syndrome	Proptosis	OMIM:123150
Melnick-Needles Syndrome	Hypertelorism, Proptosis, Hearing impairment	ORPHA:2484
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
1Q41Q42 Microdeletion Syndrome	Upslanted palpebral fissure, Abnormality iris morphology	ORPHA:250999
Cornelia De Lange Syndrome 1	Curly eyelashes, Abnormal incisura morphology, Highly arched eyebrow, Sensorineural hearing impai...	OMIM:122470
Cousin Syndrome	Posteriorly rotated ears, Hypertelorism, Deeply set eye, Narrow palpebral fissure, Low-set ears, ...	OMIM:260660
Tbck-Related Intellectual Disability Syndrome	Epicanthus, Thick eyebrow, Corneal opacity, Synophrys, Upslanted palpebral fissure, Pulmonic sten...	ORPHA:488632
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Immunodeficiency 22	Chronic oral candidiasis, Pericarditis, Panniculitis, Capillary leak	OMIM:615758
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Pachygyria, Atrioventricular block	ORPHA:93317
Raine Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Posteriorly rotated ears, Highly arched eyeb...	OMIM:259775
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure, Recurrent pneumonia	OMIM:616271
Familial Mediterranean Fever	Pericarditis, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Vasculitis, Peritonitis...	ORPHA:342
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma	OMIM:253010
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Aicardi-Goutieres Syndrome 9	Pericarditis, Acute pancreatitis, Chilblains, Portal hypertension, Pericardial effusion, Hyperten...	OMIM:619487
Momo Syndrome	Epicanthus, Underfolded helix, Hypertelorism, Bilateral microphthalmos, Eyelid coloboma, Choriore...	ORPHA:2563
3P25.3 Microdeletion Syndrome	Epicanthus, Sensorineural hearing impairment, Downslanted palpebral fissures, Blepharophimosis, M...	ORPHA:435638
Meckel Syndrome	Cataract, Abnormal chorioretinal morphology, Sclerocornea, Optic atrophy, Microcornea, Aplasia/Hy...	ORPHA:564
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment, Proptosis, Sensorineural hearing impairment	OMIM:215150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma	OMIM:615287
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, White eyelashes, Aganglionic megacolon, White e...	OMIM:609136
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens...	ORPHA:892
Acrocardiofacial Syndrome	Hypertelorism, Proptosis, Long eyelashes, Low-set ears, Cerebral cortical atrophy	ORPHA:2008
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Thanatophoric Dysplasia Type 1	Proptosis, Hearing impairment	ORPHA:1860
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Cataract	OMIM:272460
Nocardiosis	Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Keratitis, Dacryocystiti...	ORPHA:31204
Pfeiffer Syndrome Type 3	Hypertelorism, Proptosis, Low-set ears, Stenosis of the external auditory canal, Hearing impairment	ORPHA:93260
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hypertension, Tubulointerstitial nephritis, Congestive heart failure	ORPHA:85450
Cockayne Syndrome B	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Cerebral...	OMIM:133540
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pulmonary insufficiency, Retinal degeneration	OMIM:208500
Cat Eye Syndrome	Epicanthus, Hypertelorism, Low-set ears, Chorioretinal coloboma, Microphthalmia, Stenosis of the ...	OMIM:115470
Metaphyseal Chondrodysplasia, Jansen Type	Hypertelorism, Proptosis, Hearing impairment	OMIM:156400
Mandibuloacral Dysplasia With Type A Lipodystrophy	Absent eyelashes, Abnormal eyebrow morphology, Proptosis, Hearing impairment	ORPHA:90153
Noonan Syndrome	Low-set, posteriorly rotated ears, Hypertelorism, Aplasia of the semicircular canal, Sensorineura...	ORPHA:648
Gaucher Disease	Corneal opacity, Abnormality of skin pigmentation, Pulmonary arterial hypertension, Cherry red sp...	ORPHA:355
Marbach-Rustad Progeroid Syndrome	Shallow orbits, Proptosis, Intention tremor	OMIM:619322
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Eczema, Hypotension	ORPHA:428
Microphthalmia, Lenz Type	Low-set, posteriorly rotated ears, External ear malformation, Optic disc coloboma, Ankyloblepharo...	ORPHA:568
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Recurrent intrapulmon...	ORPHA:900
Hallermann-Streiff Syndrome	Telecanthus, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Uveitis	ORPHA:2108
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct...	ORPHA:206436
Galloway-Mowat Syndrome 3	Cerebellar atrophy, Epicanthus, Hypertelorism, Cerebral atrophy, Deeply set eye, Low-set ears, Mi...	OMIM:617729
Gomez-Lopez-Hernandez Syndrome	Downslanted palpebral fissures, Opacification of the corneal stroma	OMIM:601853
Pfeiffer Syndrome Type 2	Proptosis, Atresia of the external auditory canal, Low-set ears, Hypertelorism	ORPHA:93259
Acro-Renal-Ocular Syndrome	Epicanthus, Optic disc hypoplasia, Aganglionic megacolon, Hypertelorism, Sensorineural hearing im...	ORPHA:959
Frank-Ter Haar Syndrome	Abnormally large globe, Hypertelorism, Protruding ear, Buphthalmos, Proptosis, Low-set ears, Down...	OMIM:249420
Cole-Carpenter Syndrome 1	Proptosis, Orbital craniosynostosis, Shallow orbits	OMIM:112240
Loeys-Dietz Syndrome 5	Hypertelorism, Proptosis, Long palpebral fissure, Overfolded helix, Downslanted palpebral fissure...	OMIM:615582
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Low-set, posteriorly rotated ears, Hypertelorism, Sparse eyebrow, Upslanted palpebral fissure, Pr...	ORPHA:457359
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Posteriorly rotated ears, Uplifted earlobe, Hypertelorism, Synophrys, Upslanted palpe...	OMIM:616734
Ophthalmoplegia, Familial Static	Anisocoria, Ptosis	OMIM:165000
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity	ORPHA:2323
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Congestive heart failure, Recurrent pneumonia, Arterial rupture, Mitral valve prolapse	ORPHA:1900
Duane-Radial Ray Syndrome	Epicanthus, Aganglionic megacolon, Optic disc hypoplasia, Facial palsy, Hypertelorism, Sensorineu...	OMIM:607323
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Synophrys, Protruding ear, Deeply set eye, Otitis media, Chorioretinal coloboma, Intention tremor...	OMIM:619475
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Sparse eyelashes, Hypertelorism, Sparse eyebrow, E...	ORPHA:306542
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia	OMIM:610125
Fucosidosis	Corneal opacity	ORPHA:349
Mend Syndrome	Telecanthus, Abnormal auditory evoked potentials, Hypertelorism, Upslanted palpebral fissure, Low...	ORPHA:401973
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Isolated Arrhinia	Microphthalmia, Eyelid coloboma, Microtia, Hypertelorism	ORPHA:1134
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Ventricular tachycardia, Cardiomyocyte mitochondrial prolif...	ORPHA:423
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Epicanthus, Posteriorly rotated ears, Abnormal pinna morphology, Hypertelorism, Sensorineural hea...	OMIM:616975
Frontofacionasal Dysplasia	Telecanthus, Hypertelorism, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Absent...	OMIM:229400
Brucellosis	Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Glomerulonep...	ORPHA:1304
Saul-Wilson Syndrome	Sensorineural hearing impairment, Proptosis, Hearing impairment	OMIM:618150
Branchioskeletogenital Syndrome	Attached earlobe, Mixed hearing impairment, Telecanthus, Highly arched eyebrow, Hypertelorism, Sy...	ORPHA:1299
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Telangiectasia of the skin, Congestive heart failure, Patchy...	ORPHA:79474
Monosomy 13Q14	Epicanthus, Hypertelorism, Protruding ear, Low-set ears, Thickened helices, Microphthalmia, Retin...	ORPHA:1587
Congenital Myopathy 22B, Severe Fetal	Synophrys, Deeply set eye, Proptosis, Low-set ears, Downslanted palpebral fissures	OMIM:620369
Peters Plus Syndrome	Cataract, Corneal opacity, Patent ductus arteriosus, Optic atrophy, Microcornea, Upslanted palpeb...	ORPHA:709
Autosomal Dominant Robinow Syndrome	Ptosis, Epicanthus, Posteriorly rotated ears, Curly eyelashes, Hypertelorism, Upslanted palpebral...	ORPHA:3107
Autoimmune Polyendocrinopathy Type 1	Cataract, Hypopigmented skin patches, Opacification of the corneal stroma	ORPHA:3453
Monosomy 9P	Epicanthus, Highly arched eyebrow, Hypertelorism, Synophrys, Upslanted palpebral fissure, Abnorma...	ORPHA:261112
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Long eyelas...	ORPHA:79330
Teebi-Shaltout Syndrome	Telecanthus, Highly arched eyebrow, Hypertelorism, Low-set ears, Microphthalmia, Small earlobe, H...	OMIM:272950
Alagille Syndrome	Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Abnormal pupil morphology, Hypertensi...	ORPHA:52
Autosomal Recessive Robinow Syndrome	Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Hypertelorism, Upslanted palpebral fissure...	ORPHA:1507
Bartsocas-Papas Syndrome 1	Absent eyebrow, Ablepharon, Hypertelorism, Cicatricial lagophthalmos, Absent eyelashes, Cupped ea...	OMIM:263650
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Epicanthus, Cataract, Retinal dystrophy, Fair hair, Upslanted palpebral fissure, Macular degenera...	OMIM:266920
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Low-set, posteriorly rotated ears, Proptosis, Ptosis	ORPHA:228426
Say-Barber-Miller Syndrome	Highly arched eyebrow, Sparse eyebrow, Optic atrophy, Upslanted palpebral fissure, Macular degene...	ORPHA:3132
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Corneal opacity, Absent eyelashes, Corneal erosion, Abnormality of sk...	ORPHA:920
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive...	OMIM:187300
Mosaic Trisomy 9	Upslanted palpebral fissure, Patent ductus arteriosus, Corneal opacity	ORPHA:99776
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Abnormal lacrimal d...	ORPHA:79078
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Protruding ear, Vitreous hemorrhage, Low-set...	OMIM:620185
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Cerebellar atrophy, Optic atrophy, Anisocoria, Abnorma...	ORPHA:99949
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hypertelorism, Proptosis, Shallow orbits	ORPHA:73230
Campomelic Dysplasia	Hypertelorism, Proptosis, Low-set ears, Hearing impairment	ORPHA:140
Solitary Median Maxillary Central Incisor	Microphthalmia, Cyclopia, Anophthalmia, Hypotelorism	OMIM:147250
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Spontaneous, recurrent epistaxis, Corneal opacity, Pulmonary arterial hypertension, ...	ORPHA:2072
Marfanoid-Progeroid-Lipodystrophy Syndrome	Deeply set eye, Keratoconjunctivitis sicca, Proptosis, Downslanted palpebral fissures	OMIM:616914
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Low-set ears	OMIM:300863
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge...	OMIM:601992
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia, Microphthalmia	OMIM:253800
Pseudotrisomy 13 Syndrome	Posteriorly rotated ears, Hypotelorism, Upslanted palpebral fissure, Low-set ears, Microphthalmia...	OMIM:264480
Fanconi Anemia	Ptosis, Epicanthus, Aganglionic megacolon, Hypertelorism, External ear malformation, Hearing abno...	ORPHA:84
Desbuquois Dysplasia 1	Proptosis	OMIM:251450
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Proptosis, Downslanted palpebral fissures	ORPHA:85184
Marshall-Smith Syndrome	Thick eyebrow, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Cerebral atrophy, Propto...	OMIM:602535
Bohring-Opitz Syndrome	Retinal atrophy, Synophrys, Optic atrophy, Coloboma, Bradycardia	ORPHA:97297
Triosephosphate Isomerase Deficiency	Congestive heart failure, Cholecystitis	OMIM:615512
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Epicanthus, Hypertelorism, Abnormality of the ear, Proptosis, Low-set ears	ORPHA:457395
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Stenosis of the external auditory canal, Proptosis, Abnormal pinna morphology	OMIM:207410
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Posteriorly rotated ears, Deeply set eye, Low-set ears	OMIM:241410
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Telecanthus, Hypertelorism, Large earlobe, Hypoplasia of the ear cartilage, Microphthalmia	ORPHA:1236
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Restrictive Dermopathy 2	Proptosis	OMIM:619793
Aymé-Gripp Syndrome	Pericarditis, Pericardial effusion, Bilateral ptosis, Patent ductus arteriosus, Upslanted palpebr...	ORPHA:1272
Diamond-Blackfan Anemia 1	Epicanthus, Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Atrial septa...	OMIM:105650
Camurati-Engelmann Disease	Cranial nerve compression, Optic nerve compression, Proptosis, Hearing impairment	OMIM:131300
Congenital Disorder Of Glycosylation, Type Ia	Almond-shaped palpebral fissure, Cardiomyopathy, Pericarditis, Pericardial effusion	OMIM:212065
Fibrochondrogenesis 1	Proptosis, Abnormal pinna morphology, Low-set ears	OMIM:228520
Mosaic Trisomy 8	Hypopigmentation of the skin, Corneal opacity, Hypopigmented skin patches	ORPHA:96061
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Abnormality of skin pigmentation, Mu...	ORPHA:1052
Alg9-Cdg	Low-set, posteriorly rotated ears, Cerebellar atrophy, Torticollis, Telecanthus, Hypertelorism, C...	ORPHA:79328
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Cataract, Aganglionic megacolon, Epicanthus, Sclerocornea, Abnormal eye...	ORPHA:818
Dubowitz Syndrome	Epicanthus, Telecanthus, Protruding ear, Hypoplasia of the iris, Low-set ears, Otitis media, Blep...	OMIM:223370
Joubert Syndrome 2	Retinal dystrophy, Hypertelorism, Optic disc coloboma, Chorioretinal coloboma, Low-set ears, Micr...	OMIM:608091
Chromosome 13Q33-Q34 Deletion Syndrome	Epicanthus, Posteriorly rotated ears, Hypertelorism, Deeply set eye, Microphthalmia, Hearing impa...	OMIM:619148
Cole-Carpenter Syndrome	Proptosis, Downslanted palpebral fissures	ORPHA:2050
H Syndrome	Abnormal eyebrow morphology, Upper eyelid edema, Proptosis, Hearing impairment	ORPHA:168569
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Cupped ear	OMIM:618914
Peripheral Primitive Neuroectodermal Tumor	Vertigo, Torticollis, Proptosis	ORPHA:370348
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Short Stature With Microcephaly And Distinctive Facies	Sparse eyebrow, Telecanthus, Proptosis	OMIM:615789
Desbuquois Dysplasia 2	Epicanthus, Synophrys, Proptosis	OMIM:615777
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Highly arched eyebrow, Lagophth...	OMIM:619539
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Specc1L-Related Hypertelorism Syndrome	Highly arched eyebrow, Hypertelorism, Proptosis, Abnormal helix morphology, Low-set ears, Downsla...	ORPHA:1519
Marfan Syndrome	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, P...	OMIM:154700
Leptospirosis	Pericarditis, Skin rash, First degree atrioventricular block, Conjunctival hyperemia, Retinal hem...	ORPHA:509
Prader-Willi Syndrome Due To Translocation	Hypertelorism, Almond-shaped palpebral fissure, Hypotelorism, Upslanted palpebral fissure, Deeply...	ORPHA:177907
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Corneal opacity, Aganglionic megacolon, Abnormal nasolacrimal system morphology, ...	ORPHA:2273
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Upsla...	ORPHA:534
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Tangier Disease	Facial diplegia, Corneal opacity, Ectropion	ORPHA:31150
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Epicanthus, Underfolded helix, Sparse eyelashes, Hypertelorism, Absent eyelashes,...	OMIM:268400
Trisomy 9P	Abnormal pupil morphology, Downslanted palpebral fissures	ORPHA:236
Lathosterolosis	Epicanthus, Cataract, Microcornea, Opacification of the corneal stroma, Cerebellar cortical atrop...	ORPHA:46059
Apert Syndrome	Hypertelorism, Proptosis, Shallow orbits, Chronic otitis media, Downslanted palpebral fissures, H...	OMIM:101200
Cystinosis, Nephropathic	Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Cere...	OMIM:219800
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Hypertelorism, Sparse eyebrow, Cerebral atrophy, Low-set ears, Microphthalmia, Downsl...	ORPHA:464738
Elsahy-Waters Syndrome	Posteriorly rotated ears, Hypertelorism, Synophrys, Phthisis bulbi, Proptosis, Increased cup-to-d...	OMIM:211380
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Optic atr...	ORPHA:550
Primary Sclerosing Cholangitis	Portal hypertension, Spider hemangioma, Congestive heart failure, Hepatitis, Uveitis, Ulcerative ...	ORPHA:171
Kapur-Toriello Syndrome	Conductive hearing impairment, Microphthalmia, Retinal coloboma, Low-set ears	OMIM:244300
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Optic atrophy, Cerebral atrophy, Proptosis	OMIM:259720
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Pseudoaminopterin Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Highly arched eyebrow, Hypertelorism, Blepharophim...	ORPHA:221120
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha...	OMIM:606519
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta...	ORPHA:90348
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Abnormal pinna morphology, Sparse eyebrow, Microphthalmia, Downslanted palpebra...	OMIM:302960
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypotelorism	OMIM:619053
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Wiedemann-Rautenstrauch Syndrome	Absent eyebrow, Entropion, Posteriorly rotated ears, Ectropion, Sparse eyelashes, Hypertelorism, ...	OMIM:264090
Pseudo-Torch Syndrome 1	Patent ductus arteriosus, Cataract, Opacification of the corneal stroma	OMIM:251290
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Posteriorly rotated ears, Bilateral ptosis, Upslanted palpebral fissure, Microtia, Proptosis, Dow...	ORPHA:163979
Neutral Lipid Storage Myopathy	Cardiomyopathy, Congestive heart failure, Cholecystitis, Chronic pancreatitis	ORPHA:98908
Xylt1-Cdg	Synophrys, Proptosis	ORPHA:370930
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Wilson Disease	Kayser-Fleischer ring	ORPHA:905
Ogden Syndrome	Torticollis, Epicanthus, Hypertelorism, Sparse eyebrow, Bilateral ptosis, Abnormal eyelid morphol...	OMIM:300855
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyelashes, Absent eyebrow, Proptosis, Hearing impairment	ORPHA:85199
Fanconi Anemia, Complementation Group I	Conductive hearing impairment, Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Vasculitis, Vas...	ORPHA:228123
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity, Hypermelanotic macule	OMIM:259600
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Cataract, Generalized hyperpigmentati...	ORPHA:744
Fryns Syndrome	Aganglionic megacolon, Corneal opacity, Cerebral cortical atrophy	ORPHA:2059
Beta-Thalassemia Major	Upslanted palpebral fissure, High-output congestive heart failure, Arrhythmia, Dilated cardiomyop...	ORPHA:231214
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Bosma Arhinia Microphthalmia Syndrome	Abnormal pinna morphology, Absent tragus, Hypertelorism, Synophrys, Lacrimal duct atresia, Atresi...	OMIM:603457
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Low-set ears	ORPHA:163966
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Epicanthus, Aganglionic megacolon, Heart block, Sparse eyebr...	ORPHA:175
Chromosome 13Q14 Deletion Syndrome	Epicanthus, Anteverted ears, Hypotelorism, Low-set ears, Chorioretinal coloboma, Microphthalmia, ...	OMIM:613884
Pearson Syndrome	Cataract, Cardiac conduction abnormality, Corneal stromal edema, Pigmentary retinopathy, Cardiomy...	ORPHA:699
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Congenital Disorder Of Deglycosylation 1	Corneal opacity, Corneal ulceration, Gliosis, Decreased sensory nerve conduction velocity, Ptosis	OMIM:615273
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Cardiomegaly, Erythema nodosum, Congestive heart failure, Epididymitis, Panniculiti...	OMIM:256040
Pycnodysostosis	Mild conductive hearing impairment, Proptosis	ORPHA:763
Mullegama-Klein-Martinez Syndrome	Facial palsy, Curly eyelashes, Sensorineural hearing impairment, Absent stapes, Microtia, Proptos...	OMIM:301022
Trichohepatoenteric Syndrome 1	Hypertelorism, Microtia, Proptosis, Low-set ears, Downslanted palpebral fissures	OMIM:222470
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Osteoglophonic Dysplasia	Telecanthus, Hypertelorism, Proptosis, Low-set ears, Shallow orbits, Downslanted palpebral fissures	OMIM:166250
Treacher-Collins Syndrome	Hypertelorism, Absent eyelashes, Blepharospasm, Eyelid coloboma, Microtia, Conductive hearing imp...	ORPHA:861
Mucoepithelial Dysplasia, Hereditary	Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari...	OMIM:158310
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Torticollis, Mixed hearing impairment, Posteriorly rotated ears, Proptosis, Peripapillary atrophy...	ORPHA:536467
Xq21 Microdeletion Syndrome	Stapes ankylosis, Abnormal chorioretinal morphology, Dilatated internal auditory canal, Chorioret...	ORPHA:1435
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Orthostatic hypotension, Neurodegeneration, Abnormal autonomic nervous system physi...	OMIM:146500
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Cafe-au-lait spot, Short palpebral fissure	OMIM:608670
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Microtia, Optic atrophy	ORPHA:3301
Kikuchi-Fujimoto Disease	Palpebral edema, Skin rash, Pustule, Myocarditis, Vasculitis, Vasculitis in the skin, Malar rash	ORPHA:50918
Meier-Gorlin Syndrome 7	Sensorineural hearing impairment, Microtia, Proptosis, Low-set ears, Thin eyebrow, Hearing impair...	OMIM:617063
Ayme-Gripp Syndrome	Pericarditis, Upslanted palpebral fissure, Downslanted palpebral fissures, Broad eyebrow, Ptosis	OMIM:601088
Keppen-Lubinsky Syndrome	Shallow orbits, Proptosis, Opisthotonus, Abnormally large globe	OMIM:614098
Dysostosis, Stanescu Type	Proptosis, Hypertelorism	ORPHA:1798
Mitochondrial Dna-Associated Leigh Syndrome	Cardiac conduction abnormality, Dilated cardiomyopathy, Optic atrophy, Pigmentary retinopathy, Hy...	ORPHA:255210
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pigmentat...	ORPHA:79396
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Pancreatitis, Hyp...	ORPHA:99826
Schinzel-Giedion Syndrome	Abnormality of the stapes, Aganglionic megacolon, Hypertelorism, Hypsarrhythmia, Shallow orbits, ...	ORPHA:798
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Pulmonary arteria...	OMIM:253200
Cutis Laxa, Autosomal Recessive, Type Ib	Abnormal pinna morphology, Hypertelorism, Narrow palpebral fissure, Proptosis, Low-set ears, Down...	OMIM:614437
Schimke Immunoosseous Dysplasia	Transient ischemic attack, Hypermelanotic macule, Hypertension, Astigmatism, Cerebral ischemia, O...	OMIM:242900
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Cerebral cortical atrophy	OMIM:277400
African Trypanosomiasis	Abnormal EKG, Pericarditis, Keratitis, Myocarditis, Congestive heart failure, Second degree atrio...	ORPHA:3385
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Charge Syndrome	Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Anophthalmia, Facial palsy, Hearing impair...	ORPHA:138
Fetal Akinesia Deformation Sequence 1	Telecanthus, Posteriorly rotated ears, Hypertelorism, Proptosis, Low-set ears, Blepharophimosis, ...	OMIM:208150
Pelvis-Shoulder Dysplasia	Abnormal pinna morphology, Bilateral microphthalmos, Microtia, Retinal coloboma, Short palpebral ...	ORPHA:2839
Degcags Syndrome	Ptosis, Abnormal eyebrow morphology, Posteriorly rotated ears, Hearing impairment, Hypertelorism,...	OMIM:619488
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Epicanthus, Facial palsy, Progressive sensorineural hearing impairment,...	OMIM:620186
Familial Mediterranean Fever	Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas	OMIM:249100
Robinow Syndrome, Autosomal Recessive 1	Posteriorly rotated ears, Hypertelorism, Proptosis, Long eyelashes, Low-set ears, Long palpebral ...	OMIM:268310
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Bilateral microphthalmos, Upper eyelid coloboma, ...	OMIM:154500
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Monosomy 9Q22.3	Epicanthus, Downslanted palpebral fissures, Low-set ears, Microphthalmia, Thickened ears, Retinop...	ORPHA:77301
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Pulmonary...	ORPHA:2785
Rubinstein-Taybi Syndrome 1	Ptosis, Broad eyebrow, Epicanthus, Hearing impairment, Hypertelorism, Highly arched eyebrow, Naso...	OMIM:180849
Hallermann-Streiff Syndrome	Sparse eyelashes, Sparse eyebrow, Optic disc coloboma, Choreoathetosis, Low-set ears, Chorioretin...	OMIM:234100
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Marfan Syndrome	Mitral valve calcification, Arthralgia/arthritis, Congestive heart failure, Mitral valve prolapse...	ORPHA:558
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Low-set ears	ORPHA:2470
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Posteriorly rotated ears, Underfolded helix, Protruding ear, Abnormal antitragus morphology, Prop...	ORPHA:93315
Blomstrand Lethal Chondrodysplasia	Telecanthus, Proptosis, Low-set ears	ORPHA:50945
Roberts Syndrome	Hypertelorism, External ear malformation, Proptosis, Microphthalmia, Absent earlobe	ORPHA:3103
Osteopetrosis, Autosomal Recessive 7	Optic nerve compression, Optic atrophy, Proptosis	OMIM:612301
3Q29 Microdeletion Syndrome	Microphthalmia, Macrotia, Downslanted palpebral fissures, Low-set ears	ORPHA:65286
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Dacryocystitis, Lymphadenitis, Urinary bladde...	ORPHA:449395
Yunis-Varon Syndrome	Abnormal pinna morphology, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Bilateral microphthal...	ORPHA:3472
Histiocytosis-Lymphadenopathy Plus Syndrome	Sensorineural hearing impairment, Proptosis, Downslanted palpebral fissures, Hearing impairment	OMIM:602782
Neu-Laxova Syndrome 1	Ablepharon, Hypertelorism, Absent eyelashes, Proptosis, Brain atrophy, Low-set ears, Microphthalm...	OMIM:256520
Keppen-Lubinsky Syndrome	Shallow orbits, Proptosis, Opisthotonus, Abnormally large globe	ORPHA:435628
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ...	ORPHA:90340
Familial Gestational Hyperthyroidism	Proptosis, Hand tremor	ORPHA:99819
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Microphthalmia, Syndromic 6	Retinal dystrophy, Sclerocornea, Orbital cyst, Microcornea, Coloboma, Cerebral cortical atrophy	OMIM:607932
Tetrasomy 9P	Pericarditis, Epicanthus, Myositis, Dextrocardia, Raynaud phenomenon, Patent foramen ovale, Arthr...	ORPHA:3310
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Stickler Syndrome	Retinal detachment, Epicanthus, Telecanthus, Hypertelorism, Sensorineural hearing impairment, Abn...	ORPHA:828
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure	OMIM:617156
1Q21.1 Microdeletion Syndrome	Epicanthus, Microphthalmia, Sensorineural hearing impairment, Deeply set eye	ORPHA:250989
Catel-Manzke Syndrome	Hypertelorism, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Proptosis, Low-set ear...	OMIM:616145
Microcephaly-Micromelia Syndrome	Microphthalmia, Short palpebral fissure, Low-set ears	OMIM:251230
Kindler Epidermolysis Bullosa	Abnormality of skin pigmentation, Ectropion, Conjunctivitis, Corneal opacity	ORPHA:2908
Atelosteogenesis, Type I	Proptosis, Low-set ears, Hypertelorism	OMIM:108720
Fontaine Progeroid Syndrome	Posteriorly rotated ears, Hypertelorism, Synophrys, Proptosis, Downslanted palpebral fissures, Lo...	OMIM:612289
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Proptosis, Hand tremor	ORPHA:424
Beta-Thalassemia Intermedia	High-output congestive heart failure, Pulmonary arterial hypertension	ORPHA:231222
Fanconi Anemia, Complementation Group L	Hypertelorism, Upslanted palpebral fissure, Anotia, Microtia, Low-set ears, Microphthalmia	OMIM:614083
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Cerebellar atrophy, Proptosis, Optic atrophy, Chorioretinal coloboma	OMIM:210730
Okamoto Syndrome	Hypertelorism, Abnormally large globe, Proptosis, Abnormal helix morphology, Low-set ears, Long p...	ORPHA:2729
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Cataract, Developmental cataract, Pigmentary retinopathy, Hypertension, ...	OMIM:606721
Orofaciodigital Syndrome Type 4	Microtia, third degree, Posteriorly rotated ears, Hypertelorism, Abnormality of the ear, Subcorti...	ORPHA:2753
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Deeply set eye, Proptosis, Opisthotonus	ORPHA:508533
Mandibuloacral Dysplasia With Type B Lipodystrophy	Proptosis	OMIM:608612
Miller Fisher Syndrome	Anisocoria, Ptosis, Facial palsy, Mydriasis	ORPHA:98919
Wiedemann-Rautenstrauch Syndrome	Cataract, Optic disc hypoplasia, Corneal opacity, Entropion, Lagophthalmos, Synophrys, Optic atro...	ORPHA:3455
Williams Syndrome	Myocardial infarction, Megalocornea, Sudden cardiac death, Patent ductus arteriosus, Blue irides,...	ORPHA:904
Mosaic Trisomy 1	Abnormal pinna morphology, Congenital bilateral ptosis, Low-set ears, Microphthalmia, Downslanted...	ORPHA:1692
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Absent eyebrow, Corneal opacity, Hypermelanotic macule, Mitral stenosis, An...	ORPHA:740
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Isolated Exencephaly	Proptosis, Low-set ears	ORPHA:563612
Vacterl With Hydrocephalus	Anophthalmia, Microtia, third degree, Anotia, Abnormal optic nerve morphology, Microphthalmia, Ab...	ORPHA:3412
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Ptosis, Torticollis, Epicanthus, Hypertelorism, Cupped ear, Antecubital pterygium, Popliteal pter...	OMIM:609945
Wolf-Hirschhorn Syndrome	Rieger anomaly, Epicanthus, Abnormal pinna morphology, Highly arched eyebrow, Hypertelorism, Sens...	OMIM:194190
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Patent ductus arteriosu...	ORPHA:91387
Nance-Horan Syndrome	Microphthalmia, Macrotia	OMIM:302350
Localized Scleroderma	Deeply set eye, Proptosis	ORPHA:90289
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Keratoconjunctivitis sicca, Macrotia, Protruding ear	OMIM:601675
Robinow Syndrome, Autosomal Dominant 1	Epicanthus, Posteriorly rotated ears, Hypertelorism, Upslanted palpebral fissure, Proptosis, Long...	OMIM:180700
Congenital Fibrinogen Deficiency	Microphthalmia, Opisthotonus	ORPHA:335
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Pneumonia, Myocarditis, Hypertension, Septic arthritis, Pancreatitis, Acute ...	ORPHA:544482
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia	OMIM:601374
Nestor-Guillermo Progeria Syndrome	Sparse eyebrow, Proptosis, Sparse eyelashes	OMIM:614008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Retinal dystrophy	OMIM:616538
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Arrhythmia, Focal lissencephaly	OMIM:250220
Juvenile Xanthogranuloma	Proptosis, Blepharitis	ORPHA:158000
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Proptosis	OMIM:615349
Holoprosencephaly 3	Cyclopia, Proptosis, Hypotelorism	OMIM:142945
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Thrombocytopenia-Absent Radius Syndrome	Patent ductus arteriosus, Cataract, Corneal opacity, Ptosis	OMIM:274000
Fanconi Anemia, Complementation Group D2	Hypertelorism, Hypotelorism, Low-set ears, Blepharophimosis, Microphthalmia, Hearing impairment	OMIM:227646
Mowat-Wilson Syndrome	Cataract, Aganglionic megacolon, Patent ductus arteriosus, Microcornea, Ectopia pupillae, Chorior...	OMIM:235730
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Larsen Syndrome	Corneal opacity, Shallow orbits	OMIM:150250
Meckel Syndrome 14	Microphthalmia, Low-set ears, Hypertelorism	OMIM:619879
Craniosynostosis And Dental Anomalies	Papilledema, Stapes ankylosis, Absent malleus, Hypertelorism, Proptosis, Conductive hearing impai...	OMIM:614188
Holoprosencephaly 7	Hypertelorism, Synophrys, Bilateral microphthalmos, Hypotelorism, Upslanted palpebral fissure, Sh...	OMIM:610828
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypotelorism, Atresia of the external auditory canal, Microphthalmia, Cyclopia, Abnormality of th...	ORPHA:3186
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Facial palsy, Optic nerve hypoplasia, Almond-shaped palpebral fissure, Abnorma...	ORPHA:508498
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Retinal vascular proliferation, Optic atrophy, Retin...	OMIM:308300
Fraser Syndrome 1	Absent eyebrow, Corneal opacity, Absent eyelashes, Upper eyelid coloboma, Lacrimal duct aplasia, ...	OMIM:219000
Lymphedema-Distichiasis Syndrome	Ptosis, Conjunctivitis, Microphthalmia, Distichiasis, Ectropion	OMIM:153400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Sparse eyebrow, Microphthalmia, Macrotia, Hypertelorism	OMIM:616300
Oculodentodigital Dysplasia	Epicanthus, Abnormal pinna morphology, Blepharophimosis, Conductive hearing impairment, Microphth...	OMIM:164200
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Hypopigmented skin patches, Keratoconjunctivitis, Opacification of th...	ORPHA:2907
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Posteriorly rotated ears, Remnants of the hyaloid vascular syst...	OMIM:300166
Neonatal Marfan Syndrome	Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Heart murmur, Mitral regurgitation, Megalo...	ORPHA:284979
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Epicanthus, Highly arched eyebrow, Hypertelorism, Tremor, Sensorineural hearing impairment, Synop...	OMIM:612474
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Proptosis, Absent earlobe, Low-set ears, Hypertelorism	OMIM:130070
22Q11.2 Deletion Syndrome	Ptosis, Telecanthus, Epicanthus, Aganglionic megacolon, Hypertelorism, Retinal arteriolar tortuos...	ORPHA:567
Melnick-Needles Syndrome	Recurrent otitis media, Macrotia, Proptosis, Hypertelorism	OMIM:309350
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ...	ORPHA:79280
Lathosterolosis	Epicanthus, Cataract, Cerebral atrophy, Opacification of the corneal stroma, Downslanted palpebra...	OMIM:607330
Myhre Syndrome	Hypertelorism, Deeply set eye, Narrow palpebral fissure, Microtia, Low-set ears, Blepharophimosis...	OMIM:139210
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Hypotelorism, Prominent antihelix, Microphthalmia, Macrotia...	OMIM:610829
Camurati-Engelmann Disease	Facial palsy, Optic atrophy, Proptosis, Optic nerve compression, Hearing impairment	ORPHA:1328
Branchiooculofacial Syndrome	Ptosis, Telecanthus, Anophthalmia, Posteriorly rotated ears, Facial palsy, Hypertelorism, Sensori...	OMIM:113620
Meningioma	Papilledema, Facial palsy, Ear pain, Proptosis, Tinnitus	ORPHA:2495
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Posteriorly rotated ears, Loss of eyelashes, Abnormal tragus morphology, Proptosis, Thin eyebrow,...	ORPHA:2636
Tay-Sachs Disease	Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia	ORPHA:845
Fraser Syndrome 2	Microphthalmia, Cryptophthalmos, Atresia of the external auditory canal, Low-set ears	OMIM:617666
Facial Spasm	Anisocoria	OMIM:134300
Robinow Syndrome	Mixed hearing impairment, Posteriorly rotated ears, Hypertelorism, Proptosis, Low-set ears	ORPHA:97360
Linear Nevus Sebaceus Syndrome	Microphthalmia, Telecanthus, EEG abnormality	ORPHA:2612
Van Den Ende-Gupta Syndrome	Blepharophimosis, Abnormal eyebrow morphology, Sclerocornea	OMIM:600920
Mandibuloacral Dysplasia With Type B Lipodystrophy	Proptosis	ORPHA:90154
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Microphthalmia With Limb Anomalies	Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Optic atrophy, Large earlobe, Ble...	ORPHA:1106
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Hypotelorism, Proptosis, Chorioretinal coloboma, Microph...	OMIM:157170
Adams-Oliver Syndrome	Microphthalmia, EEG abnormality	ORPHA:974
Aicardi Syndrome	Retinal detachment, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Microphthalmia, Sp...	OMIM:304050
Stuve-Wiedemann Syndrome 1	Blotching pigmentation of the skin, Abnormal autonomic nervous system physiology, Opacification o...	OMIM:601559
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Fanconi Anemia, Complementation Group F	Conductive hearing impairment, Microphthalmia, Microtia	OMIM:603467
Fanconi Anemia, Complementation Group C	Microphthalmia, Epicanthus, Hearing impairment	OMIM:227645
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Microphthalmia, Papilledema	OMIM:127000
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Microphthalmia, Cyclopia, Hypotelorism	ORPHA:2166
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Gaucher Disease, Type Iiic	Mitral stenosis, Opacification of the corneal stroma	OMIM:231005
Renpenning Syndrome 1	Epicanthus, Telecanthus, Cupped ear, Cerebral atrophy, Protruding ear, Upslanted palpebral fissur...	OMIM:309500
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Hardikar Syndrome	Lacrimal duct stenosis, Portal hypertension, Hematemesis, Patent ductus arteriosus, Pigmentary re...	OMIM:301068
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology, Decreased nerve conduction velocity	ORPHA:90658
17Q11 Microdeletion Syndrome	Hypertelorism, Retinal vascular proliferation, Deeply set eye, Proptosis, Abnormal choroid morpho...	ORPHA:97685
Carney Complex	Cardiac myxoma, Congestive heart failure, Hypertension, Abnormal sperm motility, Nodular changes ...	ORPHA:1359
Hyperthyroidism, Nonautoimmune	Proptosis	OMIM:609152
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Fryns Syndrome	Aganglionic megacolon, Hypertelorism, Narrow palpebral fissure, Abnormal helix morphology, Low-se...	OMIM:229850
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Abnormal pinna morphology, Hypertelorism, Microtia, Low-set ears, Microphthalmia	OMIM:617925
Meester-Loeys Syndrome	Proptosis, Downslanted palpebral fissures, Hypertelorism	OMIM:300989
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Patent ductus arteriosus, Coloboma, Eyelid coloboma, Opacification of ...	OMIM:268300
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Fraser Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Hypertelorism, External ear malformation, Lacrim...	ORPHA:2052
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Mandibuloacral Dysplasia With Type A Lipodystrophy	Proptosis	OMIM:248370
Parkes Weber Syndrome	Bounding pulse, High-output congestive heart failure, Subarachnoid hemorrhage	ORPHA:90307
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Sparse eyelashes, Unilateral microphthalmos	OMIM:618874
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Bilateral microphthalmos, Hypertelorism	ORPHA:93325
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Osteogenesis Imperfecta, Type Viii	Proptosis	OMIM:610915
Beckwith-Wiedemann Syndrome	Otosclerosis, Abnormal earlobe morphology, Anterior creases of earlobe, Proptosis, Choroideremia,...	ORPHA:116
Fanconi Anemia, Complementation Group E	Microphthalmia, Hearing impairment	OMIM:600901
Secondary Intestinal Lymphangiectasia	Constrictive pericarditis, Intestinal bleeding, Right ventricular failure	ORPHA:90363
Viss Syndrome	Exostosis of the external auditory canal, Retinal detachment, Ectropion, Posteriorly rotated ears...	OMIM:619472
Microphthalmia, Syndromic 9	Blepharophimosis, Anophthalmia, Bilateral microphthalmos, Low-set ears	OMIM:601186
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse eyelashes, Sparse eyebrow, Microtia, Proptosis, Low-set ears	OMIM:210710
Charge Syndrome	Mixed hearing impairment, Anophthalmia, Facial palsy, Hypertelorism, Aplasia of the semicircular ...	OMIM:214800
Fanconi Anemia, Complementation Group A	Microphthalmia, Hearing impairment	OMIM:227650
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Basal Cell Nevus Syndrome 1	Microphthalmia, Orbital cyst, Hypertelorism	OMIM:109400
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Wilson Disease	Decreased nerve conduction velocity, Kayser-Fleischer ring	OMIM:277900
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse eyebrow, Proptosis, Shallow orbits	OMIM:619127
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Epicanthus, Glue ear, Uplifted earlobe, Hypertelorism, Sensorineur...	OMIM:613406
Meckel Syndrome, Type 1	Hypertelorism, Hypotelorism, Low-set ears, Microphthalmia, Epicanthus inversus, Ptosis	OMIM:249000
Pallister-Hall Syndrome	Microphthalmia, Microtia, Posteriorly rotated ears, Atresia of the external auditory canal	OMIM:146510
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Blepharophimosis, Microphthalmia, Microtia, Low-set ears	OMIM:620005
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Telecanthus, Cataract, Aganglionic megacolon, Epicanthus, Highly arched eyebrow, Ab...	ORPHA:261552
Osteogenesis Imperfecta	Aortic regurgitation, Corneal opacity, Cerebral hemorrhage	ORPHA:666
Curry-Jones Syndrome	Blepharophimosis, Microphthalmia	OMIM:601707
Vascular Ehlers-Danlos Syndrome	Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Hypertelorism, Abnormal eyelash morphology, V...	ORPHA:286
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Proptosis	OMIM:271640
8Q24.3 Microdeletion Syndrome	Thick eyebrow, Epicanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Asymmetry of the ear...	ORPHA:508488
Beckwith-Wiedemann Syndrome	Posterior helix pit, Proptosis	OMIM:130650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Yunis-Varon Syndrome	Epicanthus, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Sensorineural hearing impairment, Cu...	OMIM:216340
Liver Disease, Severe Congenital	Recurrent otitis media, Epicanthus, Proptosis, Cholesteatoma	OMIM:619991
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Aganglionic megacolon, Keratitis, Absent eyelashes, Hypertension, Opacification o...	OMIM:308205
Osteogenesis Imperfecta, Type Vii	Hearing abnormality, Proptosis	OMIM:610682
Digeorge Syndrome	Sclerocornea, Patent ductus arteriosus, Blepharophimosis, Posterior embryotoxon, Short palpebral ...	OMIM:188400
Loeys-Dietz Syndrome 1	Proptosis, Hypertelorism	OMIM:609192
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypertelorism, Proptosis, Low-set ears, Conductive hearing impairment, Simple ear	OMIM:201750
Craniofacial Microsomia 1	Ptosis, Anophthalmia, Blepharophimosis, Limbal dermoid, Sensorineural hearing impairment, Upper e...	OMIM:164210
Pallister-Killian Syndrome	Ptosis, Telecanthus, Epicanthus, Posteriorly rotated ears, Sparse eyelashes, Hypertelorism, Spars...	OMIM:601803
Townes-Brocks Syndrome	Blepharophimosis, External ear malformation, Abnormal tragus morphology, Microtia, Chorioretinal ...	ORPHA:857
Focal Dermal Hypoplasia	Mixed hearing impairment, Anophthalmia, Optic atrophy, Low-set ears, Chorioretinal coloboma, Anir...	OMIM:305600
Neurooculorenal Syndrome	Iris atrophy, Highly arched eyebrow	OMIM:620305
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Proptosis, Hypertelorism	OMIM:271665
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Loeys-Dietz Syndrome 2	Proptosis, Hypertelorism	OMIM:610168
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Pallister-Hall Syndrome	Low-set, posteriorly rotated ears, Auricular tag, Hypertelorism, Microtia, Atresia of the externa...	ORPHA:672
Tetraamelia Syndrome 1	Microphthalmia, Low-set ears	OMIM:273395
Mowat-Wilson Syndrome	Telecanthus, Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Hypertelorism, Se...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Telecanthus, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Hypertelorism, Se...	ORPHA:261537
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Microphthalmia, Syndromic 1	Ptosis, Anophthalmia, Abnormal pinna morphology, Aganglionic megacolon, Optic disc coloboma, Low-...	OMIM:309800
Pmm2-Cdg	Pericarditis, Epicanthus, Angina pectoris, Pericardial effusion, Intracranial hemorrhage, Upslant...	ORPHA:79318
Holoprosencephaly 1	Microphthalmia, Cyclopia, Hypotelorism	OMIM:236100
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Cataract, Retinal pigment epithelial atrophy, Retinal...	ORPHA:64
Loeys-Dietz Syndrome 3	Proptosis, Hypertelorism	OMIM:613795
Hydrolethalus Syndrome 1	Microphthalmia, Abnormal pinna morphology, Low-set ears	OMIM:236680
Tropical Endomyocardial Fibrosis	Proptosis	ORPHA:75565
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Dystonia	ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
46,Xy Partial Gonadal Dysgenesis	Osteoporosis	ORPHA:251510
46,Xy Complete Gonadal Dysgenesis		ORPHA:242
46,Xy Sex Reversal 6		OMIM:613762

Histopathology

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

There is no histopathology data for Map3k1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Map3k1.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Activation of MAP3K DLK and LZK in Purkinje cells causes rapid and slow degeneration depending on signaling strength.	eLife (January 2021)	Map3k13^{tm1a(KOMP)Wtsi}	PMC7870138
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Map3k1^{tm1a(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Map3k1^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Map3k1^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Map3k1^{tm1a(KOMP)Wtsi}	PMC5827107
Leucine Zipper-bearing Kinase promotes axon growth in mammalian central nervous system neurons.	Scientific reports (August 2016)	Map3k13^{tm1a(KOMP)Wtsi}	PMC4980599

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

MGI Allele	Allele Type	Produced
Map3k1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Map3k1^{Gt(YTC001)Byg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Map3k1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

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: Map3k1 MGI:1346872

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Histopathology

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X-ray

Legacy Phenotype Associated Images

Human diseases caused by Map3k1 mutations

Histopathology

IMPC related publications

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