Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Pcsk6 MGI:102897

Gene Summary

Name:

proprotein convertase subtilisin/kexin type 6

Synonyms:

SPC4, b2b2830Clo, PACE4

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
abnormal optic disk morphology	Pcsk6^em1(IMPC)J	HOM	Early adult	6.99×10^-05
irregularly shaped pupil	Pcsk6^em1(IMPC)J	HOM	Early adult	3.37×10^-05
cataract	Pcsk6^em1(IMPC)J	HOM	Early adult	5.36×10^-07
corneal opacity	Pcsk6^em1(IMPC)J	HOM	Early adult	3.51×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

Combined SHIRPA and Dysmorphology

Images

4 Images

View images

Eye Morphology

Images Ophthalmoscopy

6 Images

View images

Electroretinography 3

Fundus file

2 Images

View images

Electrocardiogram (ECG)

Waveform Image

15 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Human diseases caused by Pcsk6 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 Pcsk6 (0 diseases)
Human diseases predicted to be associated with Pcsk6 (1838 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pcsk6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy	Punctate corneal dystrophy	OMIM:183850
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Cataract 44	Developmental cataract	OMIM:616509
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Intestinal malrotation, Micrognathia, Broad nasal tip, C...	OMIM:615524
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Rod-cone dystrophy, Cataract	OMIM:300719
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero...	OMIM:217800
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Galactosialidosis	Cherry red spot of the macula, Corneal opacity	ORPHA:351
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Trichomegaly	Cataract	OMIM:190330
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Microphthalmia, Syndromic 9	Anophthalmia, Micrognathia, Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery...	OMIM:601186
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Retinitis Pigmentosa 42	Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu...	OMIM:612943
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Morquio Syndrome C	Corneal opacity	OMIM:252300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Cyclopia, Cryptorchidism, Hydrocephalus, ...	OMIM:264480
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Nathalie Syndrome	Cataract	ORPHA:2663
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Intestinal malrotation, Prominent nasal bridge, Hypertelorism, Cryptor...	ORPHA:401935
Corneal Dystrophy, Lattice Type I	Lattice corneal dystrophy, Recurrent corneal erosions	OMIM:122200
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Right Atrial Isomerism	Right atrial isomerism, Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Aortop...	OMIM:208530
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Galactosemia Iv	Cataract	OMIM:618881
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Hypertelorism, Short ...	OMIM:619879
Meacham Syndrome	Bicuspid aortic valve, Blind vagina, Scimitar anomaly, Atrial septal defect, Neonatal death, Cong...	OMIM:608978
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa...	ORPHA:185
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Cataract, Retinal dystrophy	OMIM:615995
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Cyclopia, Situs inversus totalis, Abs...	ORPHA:990
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Anteverted nares, Choanal atresia, Midnasal stenosis, C...	ORPHA:280200
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Short neck, Depressed nasal ridge, Hypotelorism, Deeply set ey...	ORPHA:2162
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Intestinal malrota...	ORPHA:2166
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Myopia 17, Autosomal Dominant	Retinal hole, Presenile cataracts	OMIM:608367
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Optic nerve dysplasia, Developmental cataract	OMIM:246000
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Gastric diverticulum, Schwannoma, Adenomatous colonic polyposis, Bladd...	ORPHA:157798
Verheij Syndrome	Branchial cyst, Ventricular septal defect, Anteverted nares, Optic nerve hypoplasia, Broad nasal ...	OMIM:615583
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Abnormal pupil morphology, Per...	ORPHA:101082
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec...	OMIM:306955
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma	OMIM:148200
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo...	OMIM:616749
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Ect...	ORPHA:1643
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Stankiewicz-Isidor Syndrome	Hypospadias, Truncus arteriosus, Ventricular septal defect, Micrognathia, Prominent nose, Cryptor...	OMIM:617516
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Dextrocardia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, ...	ORPHA:2863
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, High, narrow palate, Short ne...	ORPHA:2516
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Precocious puberty, Dilated cardiomyopathy, Wide nasal bridge, Po...	ORPHA:2229
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Emanuel Syndrome	Micrognathia, Deeply set eye, High palate, Atrial septal defect, Micropenis, Cryptorchidism, Pate...	OMIM:609029
Trisomy 18	Microretrognathia, Ventricular septal defect, Choanal atresia, Spina bifida, Hypertelorism, Cyclo...	ORPHA:3380
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu...	ORPHA:1330
Ritscher-Schinzel Syndrome 1	Hypospadias, Decreased response to growth hormone stimulation test, Ventricular septal defect, Mi...	OMIM:220210
Trisomy 13	Anophthalmia, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, High, narrow p...	ORPHA:3378
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Cataract 47	Microcornea, Cataract	OMIM:612018
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Galactosemia Ii	Cataract	OMIM:230200
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Cleft palate, Right aortic arch...	OMIM:231060
Fanconi Anemia, Complementation Group S	Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Hypertelorism, Dental malocc...	OMIM:617883
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery...	OMIM:619702
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Cyclopia, Cryptorchidism, Cl...	ORPHA:261236
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism,...	OMIM:179613
Monosomy 13Q34	Metrorrhagia, Epistaxis, Prominent nasal bridge, Prominent nose, Micrognathia, Broad nasal tip, H...	ORPHA:96168
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Chromosome 22Q11.2 Deletion Syndrome, Distal	Underdeveloped nasal alae, Cleft palate, Deeply set eye, Malar flattening, Truncus arteriosus	OMIM:611867
Emanuel Syndrome	Redundant neck skin, Micrognathia, Deeply set eye, High palate, Atrial septal defect, Micropenis,...	ORPHA:96170
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Distal Deletion 10P	Hypoplasia of penis, Micrognathia, Hypertelorism, Cryptorchidism, Short neck, Wide nasal bridge, ...	ORPHA:1580
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Decreased resp...	OMIM:147250
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Optic Atrophy 2	Optic atrophy	OMIM:311050
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Underdeveloped nasal alae, Cleft palate, Webbed neck, Hydranencephaly,...	OMIM:601355
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Depressed nasal bridge, Hy...	ORPHA:3426
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Prominent nose, Deeply set eye, Atrial septal defect, Pulmonary artery at...	OMIM:618316
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Facial Spasm	Anisocoria	OMIM:134300
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Optic atrophy	OMIM:165199
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Depres...	ORPHA:261344
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy...	ORPHA:2334
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal...	ORPHA:145
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Pericardial effusion, Depressed...	OMIM:613885
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Cyclopia, Alobar holopr...	OMIM:301043
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor...	OMIM:221900
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
Leber Congenital Amaurosis 4	Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Premature Ovarian Failure 8	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Werner Syndrome	Abnormal cerebral vascular morphology, Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarc...	ORPHA:902
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Mosaic Trisomy 9	Hypoplasia of penis, Micrognathia, Short neck, Abnormal lung lobation, Hypotelorism, High palate,...	ORPHA:99776
Winchester Syndrome	Corneal opacity	OMIM:277950
Proboscis Lateralis	Anophthalmia, External genital hypoplasia, Single naris, Abnormality of the maxillary sinus, High...	ORPHA:141099
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Ovarian Cancer	Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma	OMIM:167000
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Hypertelorism, Cryptorchidism, Wide nasal bridge, Atrial...	OMIM:618067
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Cryptorchidism, Hydroc...	ORPHA:77298
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter	OMIM:616534
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Fetal Minoxidil Syndrome	Depressed nasal bridge, Ventricular septal defect, Micrognathia, Cryptorchidism, Umbilical hernia	ORPHA:1918
Familial Colorectal Cancer Type X	Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla...	ORPHA:440437
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Hypertelorism, Left superior vena cava draining to coronary sinus, Promine...	OMIM:619143
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d...	OMIM:616188
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Micrognathia, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Wide nas...	ORPHA:3304
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal sperm motility, Male infertility, Abnormal atrial arrangement, R...	ORPHA:244
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Broad nasal tip, Hypertelorism, Short neck, Recurrent upper respiratory tr...	ORPHA:284180
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Holoprosencephaly 2	Aplasia of the nasal bone, Alobar holoprosencephaly, Hypotelorism, Holoprosencephaly, Chorioretin...	OMIM:157170
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Female infertility, Situs inversus totalis, Bronchiectasis, Right aortic arch, Chro...	OMIM:617577
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Arterioven...	ORPHA:137608
Heterotaxy, Visceral, 5, Autosomal	Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intesti...	OMIM:270100
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Nathalie Syndrome	Cataract	OMIM:255990
Breast-Ovarian Cancer, Familial, Susceptibility To, 2	Breast carcinoma, Ovarian neoplasm	OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1	Breast carcinoma, Ovarian neoplasm	OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3	Ovarian carcinoma, Breast carcinoma	OMIM:613399
Congenital Generalized Lipodystrophy	Mandibular prognathia, Overgrowth of external genitalia, Prominent superficial veins, Precocious ...	ORPHA:528
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Hydrolethalus	Anophthalmia, Micrognathia, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencepha...	ORPHA:2189
Acrocardiofacial Syndrome	Hypoplasia of penis, Hypospadias, Mitral stenosis, Ventricular septal defect, Hypertelorism, Cryp...	ORPHA:2008
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Lambert Syndrome	Malar flattening, Ventricular septal defect, Hypospadias, Branchial anomaly	ORPHA:1296
Conotruncal Heart Malformations	Hypertelorism, Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation...	OMIM:217095
Lynch Syndrome	Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma...	ORPHA:144
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Epispadias, Cryptorchidism, Atrial septal de...	OMIM:225500
Subependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N...	ORPHA:251639
Ependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N...	ORPHA:251636
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Torticollis, Brain neoplasm, Metrorrhagia, Precocious puberty, Spinal c...	ORPHA:370348
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Spina bi...	OMIM:109400
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus, Depressed nasal bridge	OMIM:268650
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Familial Partial Lipodystrophy, Dunnigan Type	Dysmenorrhea, Secondary amenorrhea, Polycystic ovaries, Advanced eruption of teeth, Hypertrophic ...	ORPHA:2348
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Macroglossia, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory sys...	ORPHA:2221
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Oculocerebrocutaneous Syndrome	Cleft ala nasi, Anophthalmia, Cryptorchidism, Orbital encephalocele, Cleft palate, Microphthalmia...	OMIM:164180
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Holoprosencephaly 14	Ventricular septal defect, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal sten...	OMIM:619895
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Plin1-Related Familial Partial Lipodystrophy	Infertility, Oligomenorrhea, Polycystic ovaries	ORPHA:280356
Marden-Walker Syndrome	Hypospadias, Dextrocardia, Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism, High, n...	OMIM:248700
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,...	ORPHA:95430
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Goiter, Fibroadenoma of the breast,...	OMIM:158350
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Dextrocardia	Meckel diverticulum, Dextrocardia, Intestinal malrotation, Abnormal reproductive system morpholog...	ORPHA:1666
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Depressed nasal bridge, Dextrocardia, Supernumerary nipple, Hypertelorism, Cryptorchidism, Coarct...	OMIM:618929
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Dextrocardia, Chronic bronchitis, Situs inversus totalis, Recur...	OMIM:615482
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Schöpf-Schulz-Passarge Syndrome	Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:50944
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Cleft palate, Polycystic ovaries, Gonadal dysgenesis, Short columella,...	ORPHA:1770
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Polycystic ovaries	ORPHA:2228
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Holoprosencephaly 1	Median cleft lip and palate, Cyclopia, Proboscis, Alobar holoprosencephaly, Hypotelorism, Aplasia...	OMIM:236100
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Secondary amenorrhea, Polycystic ovaries, Decreas...	ORPHA:3085
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	OMIM:251270
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Convex...	ORPHA:87
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Ileus, Ovarian neoplasm, Neoplasm of the central n...	ORPHA:83469
Pparg-Related Familial Partial Lipodystrophy	Dysmenorrhea, Prominent veins on trunk, Polycystic ovaries, Secondary amenorrhea, Primary amenorr...	ORPHA:79083
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormality of the sense of smell, Abnormal ...	OMIM:228300
Mmep Syndrome	Mandibular prognathia, Cryptorchidism, Microphthalmia, Ventricular septal defect	ORPHA:3434
Ciliary Dyskinesia, Primary, 38	Dextrocardia, Situs inversus totalis, Bronchiectasis, Rhinitis, Infertility, Chronic sinusitis	OMIM:618063
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
8P Inverted Duplication/Deletion Syndrome	Anteverted nares, Dextrocardia, Micrognathia, Precocious puberty, Cryptorchidism, High, narrow pa...	ORPHA:96092
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal cerebral vascular morphology, Hypertelorism, Cleft palate, Proptosis, Holoprosencephaly,...	ORPHA:2165
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Xk Aprosencephaly Syndrome	Ventricular septal defect, Abnormal external genitalia, Hypotelorism, Atrial septal defect, Abnor...	ORPHA:3469
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Nasal polyposis, Dextrocardia, Situs inversus totalis, Bronchie...	OMIM:615444
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs...	OMIM:616037
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia...	OMIM:611638
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Distal Duplication 5Q	Hypospadias, Ventricular septal defect, Dextrocardia, Micrognathia, Carious teeth, Cryptorchidism...	ORPHA:96097
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Recurrent respiratory infections, Ventricular septal defect, Choanal atresia, ...	ORPHA:261330
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Volvulus, Left ventricular hypertrophy, Microphthalmia, Micropenis, Dec...	ORPHA:335
Cataract 6, Multiple Types	Posterior polar cataract, Choroideremia, Developmental cataract	OMIM:116600
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Diabetic Embryopathy	Ventricular septal defect, Micrognathia, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Clef...	ORPHA:1926
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Carney Complex	Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, ...	ORPHA:1359
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Malabsorption, Underde...	ORPHA:2315
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Hepatic Adenomas, Familial	Polycystic ovaries	OMIM:142330
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Ciliary Dyskinesia, Primary, 2	Recurrent respiratory infections, Nasal polyposis, Sinusitis, Dextrocardia, Situs inversus totali...	OMIM:606763
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Polycystic ovaries, Coarct...	ORPHA:371428
Tetralogy Of Fallot	Abnormal nasal morphology, Cryptorchidism, Tetralogy of Fallot, Proptosis	ORPHA:3303
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Hypotelorism, Holoprosencephaly, Aplasia of the nose, Micro...	ORPHA:3186
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Cataract, Rhegmatog...	ORPHA:891
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral c...	OMIM:618652
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial agenesis of the corpus callosum, Partial anomalous pulmonary v...	OMIM:617478
Phenobarbital Embryopathy	Mandibular prognathia, Hypospadias, Hypertelorism, Abnormal nasal base norphology, Abnormal mitra...	ORPHA:1919
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy	OMIM:616171
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ...	ORPHA:276399
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Depressed nasal bridge, Micrognathia, Abnormal cardiac septum morphology, Stillbirth, Pulmonary h...	OMIM:308050
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Goiter, Fibroadenoma of the breast,...	OMIM:615109
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp...	OMIM:615542
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
22Q11.2 Deletion Syndrome	Micrognathia, Short neck, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of ...	ORPHA:567
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia, Hamartoma of tongu...	OMIM:311200
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Ventricular septal defect, Endometriosis, Micrognathia, Carious ...	OMIM:613680
Aniridia 3	Aniridia, Cataract	OMIM:617142
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe...	OMIM:618280
Ataxia-Telangiectasia	Recurrent respiratory infections, Neoplasm, Abnormal testis morphology, Polycystic ovaries	ORPHA:100
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Stillbirth, Aortic v...	OMIM:615415
Global Developmental Delay With Or Without Impaired Intellectual Development	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Bulbous nose, Hypotelorism, Lat...	OMIM:618330
Familial Partial Lipodystrophy, Köbberling Type	Coronary artery atherosclerosis, Polycystic ovaries	ORPHA:79084
Crouzon Syndrome	Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Proptosis, High p...	OMIM:123500
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal c...	ORPHA:314478
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Goiter, Breast carcinoma, Furrowed ...	OMIM:615108
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r...	OMIM:614679
Frasier Syndrome	Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma	OMIM:136680
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Microretrognathia, Hypospadias, Bicuspid aortic valve, Spina bifida, Micro...	ORPHA:508498
1Q21.1 Microduplication Syndrome	Hypospadias, Hypertelorism, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot	ORPHA:250994
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Male infertility	OMIM:618948
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Proteus-Like Syndrome	Mandibular prognathia, Communicating hydrocephalus, Thymus hyperplasia, Anteverted nares, Venous ...	ORPHA:2969
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Cleft palate, Hypotelor...	OMIM:142945
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Retinal dystrophy	OMIM:610156
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ...	OMIM:204000
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
X-Linked Mandibulofacial Dysostosis	Prominent nasal bridge, Micrognathia, Cryptorchidism, Branchial anomaly, Hypoplasia of the zygoma...	ORPHA:1131
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Hypospadias, Ventricular septal defect, Optic nerve hypoplasia, Hyperteloris...	OMIM:301056
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Multicystic kidney dysplasia, Anophthalmia, Intestinal malrotati...	ORPHA:2538
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Transposit...	OMIM:314390
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Prominence of the premaxilla, Prominent nose, Hydrocephalus, Patent ductus ...	OMIM:614886
Short Syndrome	Delayed eruption of teeth, Prominent superficial veins, Rieger anomaly, Micrognathia, Underdevelo...	OMIM:269880
Stickler Syndrome, Type V	Retinal detachment, Cataract, Vitreoretinopathy	OMIM:614284
Adams-Oliver Syndrome 6	Truncus arteriosus, Esophageal varix, Ventricular septal defect	OMIM:616589
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, External genital hypoplasia, Patent ductus arteriosus, Pu...	OMIM:249670
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Catel-Manzke Syndrome	Ventricular septal defect, Micrognathia, Hypertelorism, Cleft palate, Glossoptosis, Atrial septal...	ORPHA:1388
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Hypospadias, Ventricular septal defect, Dextrocardia, Abnormal heart v...	ORPHA:289
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy	OMIM:614706
8P23.1 Duplication Syndrome	Wide nose, Ventricular septal defect, Hypertelorism, Deeply set eye, Pulmonic stenosis, Tetralogy...	ORPHA:251076
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr...	OMIM:180295
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Morm Syndrome	Cataract, Retinal dystrophy, Retinal atrophy	ORPHA:75858
Luscan-Lumish Syndrome	Mandibular prognathia, Long nose, Irregular menstruation, Polycystic ovaries, Malar flattening	OMIM:616831
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguo...	ORPHA:1772
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Depressed nasal bridge, Micrognathia, Hypertelorism, Patent ductus art...	ORPHA:261120
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration	OMIM:204200
Ciliary Dyskinesia, Primary, 7	Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis	OMIM:611884
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Hypospadias, Endometriosis, Carious teeth, Dysplastic corpus cal...	ORPHA:363444
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Dysmenorrhea, Precocious atherosclerosis, Micrognathia, Narrow nasal...	ORPHA:280365
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Cataract, Sensory axonal neuropathy	ORPHA:329314
Lipodystrophy, Familial Partial, Type 3	Prominent superficial veins, Oligomenorrhea, Primary amenorrhea, Polycystic ovaries	OMIM:604367
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Muir-Torre Syndrome	Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ...	OMIM:158320
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Retinitis Pigmentosa 66	Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Cystic Echinococcosis	Multiple pulmonary cysts, Pulmonary cyst, Abnormality of the testis size, Renal cyst, Abnormal he...	ORPHA:400
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Bardet-Biedl Syndrome 17	Dextrocardia, Situs inversus totalis, Anosmia, Renal cyst, Hypogonadism, Hyposmia, Micropenis	OMIM:615994
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Broad nasal tip, Hypoplasia of the maxilla, Bifid ...	OMIM:136760
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Ovarian Fibromata	Ovarian fibroma	OMIM:166970
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Patent...	OMIM:619657
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp...	ORPHA:454840
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Azoospermia,...	OMIM:618300
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Lipodystrophy, Partial, Acquired, Susceptibility To	Polycystic ovaries	OMIM:608709
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Congenital Factor Vii Deficiency	Intracranial hemorrhage, Ovarian cyst, Menorrhagia, Epistaxis	ORPHA:327
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Intermediate Uveitis	Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate...	ORPHA:279914
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect, Broad nasal tip, Wide nasal bridge, Deeply set eye, Oligomenorrhea	OMIM:620393
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect, Micrognathia, Hypertelorism, Short neck, Wide nasal bridge, Ambiguous ...	ORPHA:93267
Autism Spectrum Disorder Due To Auts2 Deficiency	Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism, Wide nasal bridge, Abnormal heart ...	ORPHA:352490
Microphthalmia, Syndromic 2	Anophthalmia, Atrial septal defect, Bifid uvula, Iris coloboma, Hypospadias, Septate vagina, Pers...	OMIM:300166
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Harel-Yoon Syndrome	Peripheral axonal neuropathy, Optic atrophy, Corneal opacity, Developmental cataract	OMIM:617183
Adams-Oliver Syndrome 4	Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Micr...	OMIM:615297
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea	OMIM:184700
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ...	OMIM:601813
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Dextrocardia, Meningocele, Duodenal stenosis, Abnormal tricuspid valve mo...	ORPHA:1759
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
8p23.1 deletion syndrome	Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Fetal Trimethadione Syndrome	Atrial septal defect, Hypospadias, Ventricular septal defect, Depressed nasal bridge, Micrognathi...	ORPHA:1913
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk, Hypertelorism	OMIM:277740
Meckel Syndrome	Anophthalmia, Micrognathia, Depressed nasal ridge, Encephalocele, Multicystic kidney dysplasia, H...	ORPHA:564
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Proboscis, Hydrocephalus, Panhypopituitari...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Proboscis, Hydrocephalus, Panhypopituitari...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Proboscis, Hydrocephalus, Panhypopituitari...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Proboscis, Hydrocephalus, Panhypopituitari...	ORPHA:93924
Pellagra-Like Syndrome	Cataract	OMIM:260650
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Depressed nasal bridge,...	OMIM:618142
46,Xy Sex Reversal 6	Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy...	OMIM:613762
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Hypospadias, Anterior pituitary...	OMIM:206900
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries	OMIM:268020
Proteus Syndrome	Neoplasm of the thymus, Abnormal lung lobation, Renal cyst, Neoplasm of the central nervous syste...	ORPHA:744
Czeizel-Losonci Syndrome	Thickened nuchal skin fold, Dextrocardia, Spina bifida, Micrognathia, Myelomeningocele, Hydroceph...	ORPHA:2437
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Li-Campeau Syndrome	Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Atrial septal...	OMIM:619189
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating...	ORPHA:90793
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft palate, Abnormal aortic morphology...	ORPHA:1166
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal...	OMIM:600001
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left...	OMIM:605376
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial ...	OMIM:619534
Wildervanck Syndrome	Facial palsy, Lens subluxation, Pseudopapilledema	ORPHA:3456
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota...	ORPHA:99125
Megalencephaly	Atrial septal defect, Short neck, Long penis, Wide nasal bridge, Deeply set eye, Macroorchidism	ORPHA:2477
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes...	OMIM:615145
Prune Belly Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Intest...	ORPHA:2970
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Atypical Werner Syndrome	Abnormal cerebral vascular morphology, Micrognathia, Neoplasm of the breast, Premature arterioscl...	ORPHA:79474
Bangstad Syndrome	Abnormality of the parathyroid gland, Polycystic ovaries, Deeply set eye, Abnormal testis morphol...	ORPHA:1227
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Sonoda Syndrome	Depressed nasal bridge, Ventricular septal defect	OMIM:270460
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Developmental cataract	OMIM:618815
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Dextrocardia, Situs inversus totalis, Abdominal situs inversus, Chronic sinusitis	OMIM:619607
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Microphthalmia With Limb Anomalies	Anophthalmia, Unilateral cryptorchidism, Depressed nasal bridge, Flared nostrils, Cleft palate, I...	OMIM:206920
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Short neck, Dysplastic co...	ORPHA:2328
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Hydrocephalus, Leukemia, Microp...	OMIM:602501
Scheie Syndrome	Corneal opacity, Retinal degeneration	OMIM:607016
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
Cystinosis, Adult Nonnephropathic	Abnormal retinal morphology, Corneal crystals	OMIM:219750
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Bardet-Biedl Syndrome 19	Ventricular septal defect, External genital hypoplasia, Partial atrioventricular canal defect, Pa...	OMIM:615996
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Ventricular septal defect, Hypertelorism, Bicornu...	ORPHA:2143
Preeclampsia	Polycystic ovaries	ORPHA:275555
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Gillespie Syndrome	Hypoplasia of the iris, Truncus arteriosus, Aniridia	OMIM:206700
Teebi Hypertelorism Syndrome 1	Natal tooth, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, H...	OMIM:145420
Tricuspid Atresia	Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao...	ORPHA:1209
Neurotrophic Keratopathy	Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem...	ORPHA:137596
Filippi Syndrome	Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Low hanging columella, Wide...	OMIM:272440
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Short neck, Abnormal lung lobation, Deeply set eye, ...	ORPHA:508488
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Hyp...	OMIM:612946
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,...	OMIM:613686
Anophthalmia Plus Syndrome	Anophthalmia, Choanal atresia, Spina bifida, Hypertelorism, Abnormal nasal morphology, Cleft pala...	ORPHA:1104
3C Syndrome	Hypoplasia of penis, Micrognathia, Short neck, High, narrow palate, Abnormal tricuspid valve morp...	ORPHA:7
Meacham Syndrome	Hypoplasia of penis, Abnormal lung lobation, Conotruncal defect, Abnormal fallopian tube morpholo...	ORPHA:3097
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Kallmann Syndrome-Heart Disease Syndrome	Hypogonadotropic hypogonadism, Partial anosmia, Anomalous origin of left coronary artery from the...	ORPHA:2326
Cataract 16, Multiple Types	Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract	OMIM:613763
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Micrognathia, Hypertelorism, Cryptorch...	OMIM:616145
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Fraser Syndrome 1	Cleft ala nasi, Anophthalmia, Choanal stenosis, Micropenis, Abnormality of the anus, Encephalocel...	OMIM:219000
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Charge Syndrome	Anophthalmia, External genital hypoplasia, Decreased response to growth hormone stimulation test,...	OMIM:214800
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Cataract	ORPHA:2528
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu...	ORPHA:562
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy	ORPHA:496790
Abruzzo-Erickson Syndrome	Hypospadias, Cryptorchidism, Coronal hypospadias, Cleft palate, Coloboma, Chorioretinal coloboma,...	ORPHA:921
Lhermitte-Duclos Disease	Fibroadenoma of the breast, Hydrocephalus, Ovarian neoplasm, Trichilemmoma, Macroglossia, Neoplas...	ORPHA:65285
Spinal Muscular Atrophy, Type I	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect	OMIM:253300
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Dextrocardia, Micrognathia, Secundum atrial septal defect, Pneu...	ORPHA:2257
Optic Atrophy 6	Optic atrophy	OMIM:258500
Charge Syndrome	Bifid scrotum, Anophthalmia, Aqueductal stenosis, Holoprosencephaly, Chorioretinal coloboma, Micr...	ORPHA:138
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Eso...	ORPHA:3412
Lynch Syndrome 5	Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov...	OMIM:614350
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,...	ORPHA:314473
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Hypoplasi...	ORPHA:90322
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Nemaline Myopathy 9	High palate, Ventricular septal defect, Cleft palate, Micrognathia	OMIM:615731
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 41	Nuclear cataract	OMIM:116400
Cataract 18	Nuclear cataract	OMIM:610019
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Broad neck, Hypospadias, Mitral stenosis, Ventricular septal de...	ORPHA:163956
Cataract 48	Cataract	OMIM:618415
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Encephalocele, Ventricular septal defect, Micrognathia, Situs inversus tot...	ORPHA:1908
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Alexander Disease	Microcoria	OMIM:203450
Peutz-Jeghers Syndrome	Neoplasm of the nose, Pancreatic adenocarcinoma, Intestinal obstruction, Nasal polyposis, Stomach...	ORPHA:2869
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Hypertelori...	ORPHA:2256
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Abnormal nasal morphology, Hydr...	ORPHA:83473
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Nasal polyposis, Rectal prolapse, Multiple gastric polyps, Breast carci...	OMIM:175200
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Micrognathia, Hypertelorism, Pyloric stenosis, Cleft ...	ORPHA:261197
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Cryptorchidism, High, narrow palate, Bulbous nose, Increased nuchal tr...	OMIM:618494
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Hypertelorism, Short neck, Cryptorchidism, Cleft palate,...	OMIM:614294
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Wide nose, Ventricular septal defect, Micrognathia, Underdeve...	ORPHA:398156
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Bulbous nose	ORPHA:411986
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cryptorchidism, High palate, Chorioretinal coloboma, Microphthalmia, Agenesis of co...	ORPHA:139471
Lipe-Related Familial Partial Lipodystrophy	Increased adipose tissue around the neck, Abnormal labia majora morphology, Oligomenorrhea, Polyc...	ORPHA:435660
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu...	ORPHA:980
Maternal Phenylketonuria	Ventricular septal defect, Anteverted nares, Micrognathia, Esophageal atresia, Wide nasal bridge,...	ORPHA:2209
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Wide nose, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart mor...	ORPHA:477817
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Congenital Varicella Syndrome	Cataract	ORPHA:291
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Incr...	ORPHA:453499
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Dysmenorrhea, Esophageal varix, Irregular menstruation, Polycystic ovaries, Cardiomyopathy, Oligo...	ORPHA:264580
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Dextrocardia, Anteverted nares, Prominent nasal bridge, Hyd...	ORPHA:220493
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Hyperparathyroidism, Anteverted nares, Depressed nasal bridge, Paten...	OMIM:618188
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Lateral ventricle dilatation, Ventricular septal defect	OMIM:616816
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Hypoplasia of the thymus, High palate,...	OMIM:188400
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Dysplastic corpus callosum, Perimembranous ventricular...	OMIM:620135
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity	ORPHA:290
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Micrognathia, Epispadias, Abnormal fallopian tube morphology, Agenesis of corpus ca...	ORPHA:2556
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Duode...	ORPHA:2470
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal...	ORPHA:90795
Lynch Syndrome 4	Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm	OMIM:614337
Eales Disease	Anterior uveitis, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Optic...	ORPHA:40923
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Submucous cleft h...	ORPHA:2250
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Prominent nose, Short neck, Hypotelor...	OMIM:612474
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub...	ORPHA:414
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Short neck, Cryptorchidism, Patent ductus arte...	OMIM:244300
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Hypertelorism, Atrial septal defect, Microphthalmia, Short nose, Tetralo...	OMIM:300887
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Broad nasal tip, Precocious puberty, Cryptorchidism, Deeply set eye, G...	ORPHA:3306
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Intellectual Developmental Disorder, Autosomal Dominant 21	Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Atri...	OMIM:615502
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Hypospadias, Hypotelorism, Deeply set eye, Ambiguous genitalia, Tetralogy of F...	ORPHA:276422
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Seizures-Scoliosis-Macrocephaly Syndrome	Hypertelorism, Cryptorchidism, Bulbous nose, Atrial septal defect, Exostoses	ORPHA:466926
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Hypertelorism, Short neck, Cryptorchidism, Bulbous nose, Macroglossia, Co...	OMIM:616789
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Ectopic Aldosterone-Producing Tumor	Renal cortical adenoma, Adrenocortical adenoma, Epistaxis, Ovarian neoplasm	ORPHA:231632
Familial Adenomatous Polyposis 4	Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cys...	OMIM:617100
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Anencephaly 2	Bifid nose, Anophthalmia, Anencephaly, Median cleft palate	OMIM:619452
Opitz Gbbb Syndrome	Bifid scrotum, Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Agenesis of...	ORPHA:2745
Tetrasomy 9P	Micrognathia, Short neck, Deeply set eye, High palate, Micropenis, Patent foramen ovale, Bifid uv...	ORPHA:3310
Faciocardiomelic Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Common atrium, Hyper...	OMIM:612731
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Short ne...	ORPHA:369891
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Renal cyst, Polycystic ovaries, Stroke-li...	ORPHA:137675
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia, Hypertelorism, High palate, Abnormal nostril morphology	ORPHA:66625
Holoprosencephaly 9	Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:610829
Donohue Syndrome	Precocious puberty, Long penis, Ovarian cyst, Proptosis, Clitoral hypertrophy	OMIM:246200
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Akt2-Related Familial Partial Lipodystrophy	Oligomenorrhea, Polycystic ovaries	ORPHA:79085
Frontoocular Syndrome	Prominent nasal bridge, Micrognathia, Hypotelorism, Proptosis, High palate, Capillary hemangioma,...	OMIM:605321
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,...	ORPHA:77301
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi...	ORPHA:1354
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, External genital hypoplasia, Dilated cardiomyopathy, Hypogonadism, Atrial ...	OMIM:615981
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect, Cryptorchidism, Neonatal death, Microphthalmia, Cystic renal dysplasia	OMIM:613730
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E...	ORPHA:2788
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Familial Dysautonomia	Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop...	ORPHA:1764
Frank-Ter Haar Syndrome	Redundant neck skin, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Microgn...	OMIM:249420
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
Periventricular Nodular Heterotopia 7	Microretrognathia, Ventricular septal defect, Anteverted nares, Micrognathia, Hypertelorism, Cryp...	OMIM:617201
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Rod-cone dystrophy, Cataract, Retinal coloboma	OMIM:601794
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat...	OMIM:612674
Estrogen Resistance	Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries	OMIM:615363
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Broad neck, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Short neck, Bilat...	OMIM:300472
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Neuroendocrine Neoplasm Of Appendix	Mechanical ileus, Tricuspid stenosis, Midgut malrotation, Ovarian neoplasm, Adrenocorticotropic h...	ORPHA:100079
Down Syndrome	Redundant neck skin, Atrial septal defect, Atrioventricular canal defect, Patent foramen ovale, P...	OMIM:190685
Fibrous Dysplasia Of Bone	Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra...	ORPHA:249
Carpenter Syndrome 2	Short neck, Bilateral cryptorchidism, High, narrow palate, High palate, Atrial septal defect, Mic...	OMIM:614976
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Corneal opacity	ORPHA:93476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity	OMIM:613153
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract	ORPHA:3173
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect, Micrognathia	OMIM:608227
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Hypertelorism, Cryptorchidism, Hypoplastic left h...	ORPHA:2772
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Sialidosis Type 2	Corneal opacity, Abnormal macular morphology	ORPHA:87876
8P23.1 Microdeletion Syndrome	Hypospadias, Prominent nasal bridge, Micrognathia, Short neck, Cryptorchidism, Patent ductus arte...	ORPHA:251071
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,...	OMIM:231550
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Cidec-Related Familial Partial Lipodystrophy	Oligomenorrhea, Polycystic ovaries	ORPHA:435651
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Hypoplasia of the maxilla, Cryptorchidism, High, narrow pala...	ORPHA:1101
22Q11.2 Duplication Syndrome	Wide nose, Ventricular septal defect, Micrognathia, Hypertelorism, Depressed nasal ridge, Cleft p...	ORPHA:1727
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, High, narrow palate, Anteriorly placed anus, Abnormal ov...	ORPHA:95699
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Cl...	ORPHA:899
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, ...	ORPHA:2461
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Noonan Syndrome 8	Ventricular septal defect, Hypertelorism, Short neck, Cryptorchidism, Patent ductus arteriosus, P...	OMIM:615355
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa...	ORPHA:521308
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Anteverted nares, Prominent nasal bridge, Proboscis, Optic nerve hyp...	OMIM:605627
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Cleft ala nasi, Anophthalmia, Abnormal lung lobation, High pa...	ORPHA:2052
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Rod-cone dystrophy, Cataract, Retinal coloboma	ORPHA:363741
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Branchial cyst, Hypospadias, Cryptorchidism, Pulmonary artery stenosis, Sa...	ORPHA:435938
Suleiman-El-Hattab Syndrome	Microretrognathia, Recurrent respiratory infections, Ventricular septal defect, Hypertelorism, Cr...	OMIM:618950
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Anteverted nares, Prominent nasal ...	ORPHA:500159
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Hypertelorism, Cleft palate, Ectopic anus, Mala...	ORPHA:94066
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
German Syndrome	Depressed nasal bridge, Micrognathia, Short neck, Cryptorchidism, Wide nasal bridge, Abnormal car...	ORPHA:2077
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Abnormally large globe, Cryptorchidism, Deeply set eye, Micropenis	OMIM:618504
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cryptorchidism, Tetralogy of Fa...	ORPHA:1381
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Anteverted nares, Protruding tongue, Short neck, Cryptorchidism, Paten...	OMIM:612938
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Bicuspid aortic valve, Mitral stenosis, Micrognathia, ...	ORPHA:1596
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Retinal thinning, Asteroid hyalosis	OMIM:132450
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Congenital Hydrocephalus	Optic atrophy, Macular hypoplasia, Iris coloboma	ORPHA:2185
Poland Syndrome	Dextrocardia	OMIM:173800
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
King-Denborough Syndrome	Ventricular septal defect, Broad nasal tip, Bilateral cryptorchidism, Cryptorchidism, Hypertelori...	OMIM:619542
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy	ORPHA:3156
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Ectopia pupillae, Astigmatism, Optic atrophy, Cataract	OMIM:618727
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Pulm...	OMIM:280000
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Prim...	ORPHA:2975
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Decreased fertility in females, Labial hypertrophy, Decreased fertility, V...	OMIM:269700
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Cataract, Corneal opacity	ORPHA:309288
Neurooculorenal Syndrome	Ectopic posterior pituitary, Dextrocardia, Intestinal malrotation, Micrognathia, Aqueductal steno...	OMIM:620305
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Hypertelorism, Anteriorly placed a...	OMIM:248450
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypopl...	ORPHA:861
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Atrial septal defect, Malar flattening, Hemangioma	ORPHA:52056
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ...	OMIM:610125
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Cryptorch...	OMIM:134780
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Branchial fistula, Wide nose, Ventricular septal defect, Micrognathia, Hyp...	ORPHA:261337
Recombinant 8 Syndrome	Small scrotum, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia,...	ORPHA:96167
Fryns Syndrome	Micrognathia, Short neck, Abnormal aortic arch morphology, High palate, Agenesis of corpus callos...	ORPHA:2059
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Nasal...	OMIM:300991
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Abnormality of per...	ORPHA:585
Donnai-Barrow Syndrome	Ventricular septal defect, Intestinal malrotation, Depressed nasal bridge, Broad nasal tip, Hyper...	OMIM:222448
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Hypertelorism, Patent ductus ar...	OMIM:612561
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Cryptorchidism, Increase...	OMIM:617635
Feingold Syndrome Type 2	Jejunal atresia, Ventricular septal defect	ORPHA:391646
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopathy, Stroke, Atrial...	OMIM:249270
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, ...	OMIM:218350
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi...	ORPHA:280921
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Lissencephaly 5	Cataract, Optic atrophy	OMIM:615191
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Ventricular septal defect, Aganglionic megacolon, Micrognathia, Malabsorptio...	ORPHA:452
Autosomal Recessive Stickler Syndrome	Retinal detachment, Vitreoretinopathy, Cataract, Astigmatism	ORPHA:250984
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:248000
Jacobsen Syndrome	Micrognathia, Short neck, Clitoral hypoplasia, Holoprosencephaly, Chorioretinal coloboma, Atrial ...	OMIM:147791
Yuan-Harel-Lupski Syndrome	Wide nose, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, D...	OMIM:616652
Burn-Mckeown Syndrome	Mandibular prognathia, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Microg...	OMIM:608572
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Coloboma, Shallow orbi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Coloboma, Shallow orbi...	ORPHA:352665
Noonan Syndrome 11	Depressed nasal bridge, Hypertelorism, Bulbous nose, Pulmonic stenosis, Atrial septal defect, Hyp...	OMIM:618499
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge...	ORPHA:284169
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventricular septal defect, Prominent nasal bridge, Depressed nasal bridge, Patent ductus arterios...	OMIM:618974
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Anteriorly plac...	OMIM:618624
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye...	OMIM:311070
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Anteverted nares, Aplasia/Hypoplasia of the tongue, Patent duct...	ORPHA:1790
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Anteverted nares, Supernumerary nipple, Depressed nasal bridge, Broad ...	OMIM:612530
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Cockayne Syndrome Type 1	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Hypoplasi...	ORPHA:90321
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Redundant neck skin, Ventricular septal defect, Micrognathia, Broad nasal tip, Cryptorchidism, Pa...	ORPHA:1655
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Aganglionic megacolon, Prominent nasal bridge, Patent ductus arteriosu...	OMIM:613870
Denys-Drash Syndrome	True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g...	OMIM:194080
46,Xx Sex Reversal 5	Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Ambiguous genit...	OMIM:618901
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Micrognathia, Short neck, Renal cyst, Atrial septal defect, Micropenis, Agenesis o...	OMIM:257300
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Peripheral pulmonary artery stenosis, Astrocytoma, Ventricular septal defec...	OMIM:613001
Restrictive Dermopathy	Natal tooth, Aplasia/Hypoplasia involving the nose, Hypospadias, Dextrocardia, Choanal atresia, M...	ORPHA:1662
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Intestinal malrotation, Protruding tongue, Hypertelorism, Cryptorchidi...	OMIM:300963
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Micrognathia, Choanal stenosis, Atrial septal defect, Patent foramen ovale, Bifid...	OMIM:620186
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Delayed eruption of permanent teeth, Ventricular septal defect, Short nose	OMIM:618506
Tyshchenko Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, High, narrow palate, Narrow pala...	OMIM:615102
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovaries	ORPHA:90301
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Precocious puberty, Delayed eruption of permanent teeth, Atrial s...	OMIM:619356
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Hypospadias, Anteverted nares, Micrognathia, Choanal atresia, Cryptorc...	ORPHA:494344
Feingold Syndrome 2	Ventricular septal defect, Intestinal atresia	OMIM:614326
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Corneal opacity, Optic atrophy, Developmental cataract, Yellow...	ORPHA:93400
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus ar...	ORPHA:329224
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Ventricular septal defect	OMIM:614876
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Dysmenorrhea, Oligomenorrhea, Polycystic ovaries	ORPHA:79240
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Micrognathia, Prominent nose, Hypertelorism, Patent ductus arteriosus,...	OMIM:615668
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Wide nasal bridge, Atrial septa...	ORPHA:261295
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Patent duct...	OMIM:601927
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bron...	OMIM:620197
Genitopatellar Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Small scrotum, Wide nose, Prominent nasa...	ORPHA:85201
Lujan-Fryns Syndrome	Atrial septal defect, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, High palat...	ORPHA:776
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cataract	OMIM:619851
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor, Astigmatism	OMIM:619328
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Multicystic kidney dysplasia, Depressed nasal bridge, Micrognathia, Crypto...	OMIM:614527
Acquired Generalized Lipodystrophy	Cardiomyopathy, Astrocytoma, Lymphoma, Polycystic ovaries	ORPHA:79086
Cataract 24	Anterior polar cataract	OMIM:601202
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Aortic root aneur...	ORPHA:404443
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Anteverted nares, Hypertelorism, Short ne...	ORPHA:1780
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Ventricular septal defect, Intestinal malrotation, Narrow nose, Carious teeth, Crypt...	OMIM:617602
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Noonan Syndrome 9	Ventricular septal defect, Hypertelorism, Short neck, Cryptorchidism, Coarctation of aorta, Pulmo...	OMIM:616559
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Ventricular septal defect, Optic disc hypoplasia, Short neck, Eso...	OMIM:300514
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Iris coloboma, Hydrocephalus...	OMIM:309801
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Noonan Syndrome 5	Mandibular prognathia, Depressed nasal bridge, Hypertelorism, Short neck, Cryptorchidism, Pulmoni...	OMIM:611553
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Anteverted nares, Prominent nasal ...	OMIM:617751
Sialidosis Type 1	Cataract, Corneal opacity, Decreased nerve conduction velocity, Cherry red spot of the macula, Re...	ORPHA:812
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Multicystic kidney dysplasia, Ventricular septal defect	ORPHA:1909
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
Steinert Myotonic Dystrophy	Endometrial carcinoma, Brain neoplasm, Hypergonadotropic hypogonadism, Choroidal melanoma, Decrea...	ORPHA:273
Chromosome 9P Deletion Syndrome	Hypospadias, Ventricular septal defect, Anteverted nares, Micrognathia, Depressed nasal bridge, H...	OMIM:158170
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
X-Linked Intellectual Disability, Najm Type	Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Ogden Syndrome	Microretrognathia, Torticollis, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchid...	ORPHA:276432
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Dextrocardia, Situs inversus totalis, Multiple renal cysts, Polycystic kidney dysplasia, Hepatic ...	OMIM:613095
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Micrognathia, ...	ORPHA:904
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Decreased fertility in females, Labial hypertrophy, Polycystic ovaries, Ca...	OMIM:608594
Distal Triplication 15Q	Abnormal external genitalia, Micrognathia, Hypertelorism, Hydrocephalus, Patent ductus arteriosus...	ORPHA:314588
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Small scrotum, Anophthalmia, Anterior pituitary hypoplasia, Micrognathia, Un...	ORPHA:264200
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Abnormal lung lobation, Deeply set e...	OMIM:265380
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Dilated cardiomyopathy, Azoospermia, Cardiomyopathy, Infertility, ...	OMIM:602390
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Cat Eye Syndrome	Micrognathia, Chorioretinal coloboma, Atrial septal defect, Iris coloboma, Hypertelorism, Patent ...	OMIM:115470
Temple-Baraitser Syndrome	Wide nose, Depressed nasal bridge, Hypertelorism, Short columella, Pulmonic stenosis, Atrial sept...	OMIM:611816
Juvenile Sialidosis Type 2	Optic atrophy, Cherry red spot of the macula, Cataract, Corneal opacity	ORPHA:93399
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Narrow nasal bridge, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Precocious ...	OMIM:620073
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Breast carcinoma, Melanoma, Colon cance...	ORPHA:1333
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Supernumerary nipple, Micrognathia, Cryptorchidism, Patent foramen ova...	OMIM:613884
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Cl...	OMIM:611134
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Ventricular septal defect, Anteverted nares, Hypertelorism, Recurrent pneumonia, Cle...	OMIM:616449
Even-Plus Syndrome	Short neck, Bifid nasal tip, Dysplastic corpus callosum, Patent foramen ovale, Depressed nasal ri...	OMIM:616854
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, Wide nasal bridge, Hypotelorism, High palate, Convex nasal ridge	OMIM:314320
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ...	OMIM:619975
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Prominent nasal bridge, Hypertelorism, Hydrocephalus, M...	OMIM:614424
Cardiac Valvular Dysplasia 1	Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val...	OMIM:212093
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Wide nose, Hypertelorism, Patent foramen ovale, Wide nasal bridge, Atrial sept...	ORPHA:89844
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect, Wide nasal bridge, Hypotelorism, High palate, Convex nasal ridge	ORPHA:3369
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Intestinal malrotation, Anteverted nares, Micrognathia, Depressed nasa...	ORPHA:404440
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ventricular septal defect, Anteverted nares, Cardiomegaly, Micrognathia, Hypertelori...	OMIM:616897
Thanatophoric Dysplasia Type 2	Encephalocele, Depressed nasal bridge, Hydrocephalus, Patent ductus arteriosus, Increased nuchal ...	ORPHA:93274
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp...	ORPHA:480536
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double...	OMIM:618164
Lambotte Syndrome	Ventricular septal defect, Hypertelorism, Retrognathia, Convex nasal ridge, Semilobar holoprosenc...	OMIM:245552
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Abnormal cranial nerve morphology, Abnormality of macular pigmen...	ORPHA:97229
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Abnormal autonom...	OMIM:256800
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ch...	OMIM:267750
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Ventricular septal defect, Micrognathia, Hypoplastic pulmonary ...	OMIM:618021
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ...	ORPHA:860
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Bardet-Biedl Syndrome 8	Hypogonadism, Hypospadias, Situs inversus totalis	OMIM:615985
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thickened nuchal skin fold, Redundant neck skin, Ventricular septal defect, Micrognathia, Thyroid...	OMIM:235255
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Thoracoabdominal Syndrome	Hypospadias, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Cleft palate, Transposition of...	OMIM:313850
Alpha-Mannosidosis	Cataract, Corneal opacity	ORPHA:61
Char Syndrome	Ventricular septal defect, Depressed nasal bridge, Supernumerary nipple, Persistence of primary t...	ORPHA:46627
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Advanced eruption ...	ORPHA:261494
Joubert Syndrome 9	Cataract, Retinal dystrophy, Astigmatism	OMIM:612285
Lissencephaly 8	Cataract, Optic atrophy	OMIM:617255
Klippel-Trénaunay Syndrome	Peripheral arteriovenous fistula, Abnormality of the menstrual cycle, Venous insufficiency, Paten...	ORPHA:90308
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Carpenter Syndrome 1	Ventricular septal defect, External genital hypoplasia, Depressed nasal bridge, Micrognathia, Pre...	OMIM:201000
Mosaic Variegated Aneuploidy Syndrome	Micrognathia, Depressed nasal ridge, Abnormal lung lobation, Neoplasm, Holoprosencephaly, Atrial ...	ORPHA:1052
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Micrognathia, Hypert...	OMIM:605275
Sotos Syndrome	Mandibular prognathia, Atrial septal defect, Ventricular septal defect, Anteverted nares, Depress...	OMIM:117550
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Transaldolase Deficiency	Atrial septal defect, Abnormality of the clitoris, Biventricular hypertrophy, Coarctation of aorta	ORPHA:101028
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, Wide nasal bridge, Deeply s...	OMIM:619149
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Decreased sensory nerve conduction velocity, O...	OMIM:609033
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Micrognathia, Short neck, Anteriorly placed anus, Clitoral hypoplasia, P...	OMIM:616894
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Long nose, Wide na...	OMIM:619995
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Hypogonadotropic hypogonadism, Ventricular septal defect, Hypertelorism, Cr...	OMIM:617159
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Ventricular septal defect, Prominent nasal bridge, Short neck, Cryptorchidism, Wide nasal bridge,...	OMIM:617452
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Hypertelorism, Cryptorchidism, Cleft palate, Hypoteloris...	OMIM:619123
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Polysyndactyly With Cardiac Malformation	Anteverted nares, Ventricular septal defect, Hypertelorism, Renal cyst, Stillbirth, Atrial septal...	OMIM:263630
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Hypospadias, Anteverted nar...	OMIM:610253
Skraban-Deardorff Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft palate, ...	OMIM:617616
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Decreased response to growth hormone stimulation test, Prominent nose, Sho...	OMIM:601808
Müllerian Aplasia And Hyperandrogenism	Short neck, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Abnormal vagina morpholog...	ORPHA:247768
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Atelis Syndrome 1	Ventricular septal defect, Prominent nose, Carious teeth, Bronchiectasis, High palate, Atrial sep...	OMIM:620184
Potocki-Lupski Syndrome	Mandibular prognathia, Micrognathia, Hypertelorism, Dental malocclusion, High palate, Atrial sept...	OMIM:610883
Snijders Blok-Campeau Syndrome	Prominent nose, Hypertelorism, Wide nasal bridge, Taurodontia, Perimembranous ventricular septal ...	OMIM:618205
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe...	OMIM:616898
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Motor axonal neuropathy, Mydriasis	ORPHA:247815
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Atrial septal defect, Ventricular septal defect, Prominent nasal bridge, Mic...	OMIM:309520
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Dextrocardia, Patent ductus arteriosus, Tracheoesophageal fistula, High palate, Atrial septal def...	OMIM:277380
Bdv Syndrome	Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, Primary amenorrhea, Atrial septal de...	OMIM:619326
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Pigmented Nodular Adrenocortical Disease, Primary, 2	Ovarian cyst	OMIM:610475
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, Hypopl...	ORPHA:785
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Radio-Tartaglia Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Precocious pub...	OMIM:619312
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Anteriorly placed anus, Choanal stenosis, Micro...	OMIM:201750
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Velopha...	OMIM:192430
Joubert Syndrome 18	Occipital encephalocele, Ventricular septal defect, Renal cyst, Cleft palate, Lobulated tongue, R...	OMIM:614815
Zellweger Syndrome	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic atrophy, Po...	ORPHA:912
8P11.2 Deletion Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Depressed nasal bridge, Micrognathia, Hyperte...	ORPHA:251066
Iatrogenic Botulism	Orthostatic hypotension, Mydriasis	ORPHA:254509
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal...	OMIM:616276
Multifocal Atrial Tachycardia	Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	ORPHA:3282
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Dilation of Virchow-Robin spaces, Depressed nasal bridge, Prominent nasal bridge, Myelodysplasia,...	OMIM:619951
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Short neck, Patent ductus art...	ORPHA:52055
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Seckel Syndrome 9	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Micrognathia, ...	OMIM:616777
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Rabson-Mendenhall Syndrome	Mandibular prognathia, Atrial septal defect, Enlarged ovaries, Wide nose, Ventricular septal defe...	ORPHA:769
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal...	ORPHA:485405
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Ventricular septal defect, Micrognathia, Hypertelorism, Cryptorchidism...	ORPHA:2789
Fg Syndrome Type 1	Hypospadias, Choanal atresia, Abnormal large intestine morphology, Micrognathia, Malrotation of c...	ORPHA:93932
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Short neck, Patent foramen oval...	OMIM:612582
Hamel Cerebro-Palato-Cardiac Syndrome	Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Atrial septal defect, Malar flattening	ORPHA:93946
Intellectual Developmental Disorder, Autosomal Recessive 65	Hypospadias, Prominent nasal bridge, Supernumerary nipple, Secundum atrial septal defect, Cryptor...	OMIM:618109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia	OMIM:615181
Duane Retraction Syndrome	Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Hypoplastic...	ORPHA:233
Triple A Syndrome	Optic atrophy, Iris coloboma, Motor axonal neuropathy	ORPHA:869
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cataract, Optic atrophy	OMIM:617481
Intellectual Disability-Strabismus Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Narrow nasal ridge, Micrognat...	ORPHA:363528
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Cataract, Decreased number of large peripheral myelina...	OMIM:162400
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal venous morphology, Abnormal cerebral vascular morphology, Hydrocele testis, Multiple lip...	ORPHA:276280
Infantile Systemic Hyalinosis	Malabsorption, Short neck, Steatorrhea, Polycystic ovaries	ORPHA:2176
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc coloboma, Aglossia,...	OMIM:241310
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Cleft palat...	ORPHA:2345
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Optic atrophy, Retinal dysplasia	ORPHA:272
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy	OMIM:620221
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Conical incisor, Protein-losing enteropathy, Atrial septal defect, Spina bifida ...	OMIM:235510
Miller Fisher Syndrome	Anisocoria, Facial palsy, Mydriasis	ORPHA:98919
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Wide nose, Ventricular septal defect, Prominent nasal bridge, Short neck, Cryptorchidism, High pa...	ORPHA:505237
Noonan Syndrome 4	Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Short neck, Cryptorchidism, Den...	OMIM:610733
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Ventricular septal defect, Anteverted...	OMIM:609942
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Conotruncal defect, Hypoplasti...	ORPHA:40366
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:44
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Atri...	OMIM:614857
Microcephaly-Capillary Malformation Syndrome	Wide nose, Ventricular septal defect, Hypertelorism, Hypoplasia of the maxilla, Cleft palate, Atr...	OMIM:614261
Chromosome 10Q26 Deletion Syndrome	Small scrotum, Micrognathia, Prominent nose, Cryptorchidism, Patent ductus arteriosus, Flared nos...	OMIM:609625
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Anophthalmia, Anteverted nares, Lymphoma, Wide nasal bridge, Pleural effusion, Chyloth...	ORPHA:2526
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Micrognathia, High, narrow pa...	OMIM:619472
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Anteverted nares, Protruding tongue, Hypertelorism, Cryptorchidism, Tetralog...	ORPHA:96147
Orofaciodigital Syndrome V	Recurrent respiratory infections, Ventricular septal defect, Unilateral cryptorchidism, Hamartoma...	OMIM:174300
Ciliary Dyskinesia, Primary, 9	Male infertility, Pneumonia, Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Recurrent ...	OMIM:612444
Congenital Fibrosis Of Extraocular Muscles	Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia, Cataract	ORPHA:45358
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Hiatus hernia, Persistence of primary teeth, Patent ductus arteriosus,...	OMIM:619769
Short Stature-Micrognathia Syndrome	Small scrotum, Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft palate, Hypoteloris...	OMIM:617164
Pontocerebellar Hypoplasia, Type 16	Cataract, Optic atrophy	OMIM:619527
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata...	OMIM:175780
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Abnormal lung lobation...	OMIM:146510
Lateral Meningocele Syndrome	Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Hypertelorism, Cryptorchidism, Hy...	OMIM:130720
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Ventricular septal defect, Intestinal malrotation, Prominent nasal bridge, Bro...	ORPHA:457193
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Ciliary Dyskinesia, Primary, 24	Situs inversus totalis, Bronchiectasis, Infertility, Chronic rhinitis, Recurrent sinusitis	OMIM:615481
Neurocardiofaciodigital Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Lateral ventricle dilatation, Double inlet left ve...	OMIM:619869
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect, Anteverted nares, Partial agenesis of the corpus callosum, Decreased f...	OMIM:234050
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Absent gallbladder, Depressed nasal bridge, Hamartoma of tongue, Septate vagina, Mic...	OMIM:617925
Desbuquois Syndrome	Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Short neck, Proptosis	ORPHA:1425
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Hypospadias, Ventricular septal defect, Depressed nasal bridge, Cryptorchi...	OMIM:619103
Thanatophoric Dysplasia	Depressed nasal bridge, Hydrocephalus, Patent ductus arteriosus, Increased nuchal translucency, P...	ORPHA:2655
Nance-Horan Syndrome	Microcornea, Retinal detachment, Cataract	ORPHA:627
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef...	ORPHA:2476
Filippi Syndrome	Wide nose, Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Underdevelope...	ORPHA:3255
Costello Syndrome	Thickened nuchal skin fold, Ventricular septal defect, Abnormal dental enamel morphology, Depress...	ORPHA:3071
Fanconi Anemia	Micrognathia, Neoplasm, High palate, Abnormality of the uterus, Atrial septal defect, Hypospadias...	ORPHA:84
Agnathia-Otocephaly Complex	Wide nose, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft p...	OMIM:202650
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Buratti-Harel Syndrome	Dilation of Virchow-Robin spaces, Hypospadias, Hypertelorism, Cryptorchidism, Velopharyngeal insu...	OMIM:619314
Focal Dermal Hypoplasia	Cleft ala nasi, Anophthalmia, Anteriorly placed anus, Clitoral hypoplasia, Chorioretinal coloboma...	OMIM:305600
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Micrognathia, Renal cyst, Hypotelorism, Deeply set eye, Microphallus, Patent foram...	OMIM:618454
Leopard Syndrome 1	Mandibular prognathia, Hypospadias, Hypertelorism, Delayed menarche, Cryptorchidism, Complete atr...	OMIM:151100
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Hypospadias, Ventricular septal defect, Anteverted nares, Hypertelorism, Pre...	ORPHA:254346
Intestinal Botulism	Mydriasis	ORPHA:178481
Woods Syndrome	Ventricular septal defect, Wide nasal bridge, Supernumerary nipple, Low hanging columella	OMIM:615236
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma...	ORPHA:201
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Rhinitis, Infertility, ...	OMIM:615500
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op...	ORPHA:649
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Bronchiectasis, Infertility, Recurrent sinusitis, Recurrent bronchitis	OMIM:613193
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, P...	ORPHA:2473
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Depressed nasal bridge, Choanal atresia, Hydrocephalus, Hypoplastic labia majora, Proptosis, Choa...	OMIM:207410
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Noonan Syndrome 10	Ventricular septal defect, Hypertelorism, Short neck, Cryptorchidism, Patent ductus arteriosus, I...	OMIM:616564
Robinow Syndrome	Small scrotum, External genital hypoplasia, Micrognathia, Pulmonary valve atresia, Clitoral hypop...	ORPHA:97360
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Hereditary Leiomyomatosis And Renal Cell Cancer	Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar...	ORPHA:523
Infantile Refsum Disease	Rod-cone dystrophy, Cataract, Optic atrophy, Facial palsy	ORPHA:772
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Short neck, Renal cyst, Atrial septal defect, Agenesis ...	OMIM:229850
Alg9-Cdg	Villous atrophy, Micrognathia, Short neck, Abnormal lung lobation, Right ventricular dilatation, ...	ORPHA:79328
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micro...	ORPHA:435638
Poland Syndrome	Encephalocele, Hypospadias, Dextrocardia, Short neck, Retinal hamartoma, Cryptorchidism, Acute le...	ORPHA:2911
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh...	ORPHA:3411
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Wide nasal bridge	ORPHA:228399
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Carious teeth, Irregular menstruation, Enterocolitis, Ulcerative colitis, Polycystic o...	ORPHA:79259
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Anteverted nares,...	OMIM:619980
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect, Hypothalamic hamartoma	OMIM:619908
Neu-Laxova Syndrome 1	Micrognathia, Short neck, Depressed nasal ridge, Neonatal death, Patent foramen ovale, Agenesis o...	OMIM:256520
Knobloch Syndrome	Occipital encephalocele, Depressed nasal bridge, Dextrocardia, Pyloric stenosis, Patent ductus ar...	ORPHA:1571
Revesz Syndrome	Exudative retinopathy, Megalocornea, Leukocoria	OMIM:268130
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Hypertelorism, Long nose, Patent foramen ovale, Partial agenesis of th...	OMIM:620113
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Micrognathia, Carious teeth, Pericardial effusion, Multiple muscular ventricular septal defects, ...	OMIM:620070
Lcat Deficiency	Corneal opacity	ORPHA:650
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Ferguson-Bonni Neurodevelopmental Syndrome	Premature ovarian insufficiency, Coronary-pulmonary artery fistula, Micrognathia, Hypertelorism, ...	OMIM:619699
Stevenson-Carey Syndrome	Anteverted nares, Underdeveloped nasal alae, Coloboma, Left superior vena cava draining to corona...	OMIM:611961
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Scheie Syndrome	Abnormal nerve conduction velocity, Corneal opacity	ORPHA:93474
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Hypospadias, Decreased scrotal rugation, Hypertelorism, Promine...	ORPHA:261311
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma	OMIM:256540
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Micrognathia, Lens coloboma, Lateral ventricle dilatation, Umbilical herni...	OMIM:618914
Noonan Syndrome 13	Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism, Short neck, Wide nasal bridge, Mit...	OMIM:619087
Serkal Syndrome	Abnormal penis morphology, Ventricular septal defect, Hypospadias, Malrotation of small bowel, Se...	ORPHA:139466
Timothy Syndrome	Ventricular septal defect, Depressed nasal bridge, Bronchitis, Cardiomegaly, Pneumonia, Patent du...	OMIM:601005
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Pneumonia, Enlarged polycystic ovaries, Lymphoma, Hodgkin lymphoma, Polycystic ...	ORPHA:2298
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar...	OMIM:216900
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Coffin-Siris Syndrome	Delayed eruption of teeth, Atrial septal defect, Hypospadias, Ventricular septal defect, Thick na...	ORPHA:1465
Ciliary Dyskinesia, Primary, 14	Male infertility, Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, ...	OMIM:613807
Wiedemann-Steiner Syndrome	Wide nose, Micrognathia, Broad nasal tip, Cryptorchidism, Patent ductus arteriosus, Bulbous nose,...	OMIM:605130
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thickened nuchal skin fold, Ventricular septal defect, Anteverted nares, Hypertelorism, Patent du...	OMIM:220500
Transaldolase Deficiency	Ventricular septal defect, Depressed nasal bridge, Short neck, Patent ductus arteriosus, Coarctat...	OMIM:606003
Coffin-Siris Syndrome 6	Depressed nasal bridge, Micrognathia, Broad nasal tip, High, narrow palate, Cleft palate, Atrial ...	OMIM:617808
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Ventricular septal defect, Supernumerary nipple, Hypoplasia of the maxilla, Patent d...	OMIM:106260
Methimazole Embryofetopathy	Ventricular septal defect, Hypospadias, Choanal atresia, Esophageal atresia, Tracheoesophageal fi...	ORPHA:1923
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Recurrent respiratory infections, Hypospadias, Ventricular septal defect, Supernum...	ORPHA:217346
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Abnormal lung lobation, Anomalous ...	ORPHA:1120
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Ventricular sept...	ORPHA:1335
Congenital Myopathy 11	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619967
Short-Rib Thoracic Dysplasia 12	Natal tooth, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Hyperteloris...	OMIM:269860
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Recurrent pneumonia, B...	OMIM:613808
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor...	OMIM:243605
19P13.3 Microduplication Syndrome	Ventricular septal defect, Unilateral cryptorchidism, Micrognathia, Precocious puberty, Prominent...	ORPHA:447980
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Dextrotransposition of the gr...	OMIM:618619
Keutel Syndrome	Recurrent respiratory infections, Wide nose, Depressed nasal bridge, Ventricular septal defect, U...	ORPHA:85202
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Ventricular septal defect, Short neck, Hypertelorism, Low posteri...	ORPHA:85194
Apert Syndrome	Mandibular prognathia, Choanal stenosis, Shallow orbits, Agenesis of corpus callosum, Bifid uvula...	OMIM:101200
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Atrial septal ...	OMIM:610198
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Prominent nasal tip, Hypospadias, Ventricular septal defect, Anteverted na...	ORPHA:464738
Mosaic Trisomy 1	Microretrognathia, Ventricular septal defect, Depressed nasal bridge, Increased nuchal translucen...	ORPHA:1692
17Q12 Microduplication Syndrome	Tracheoesophageal fistula, Cleft palate, Deeply set eye, Atrial septal defect, Microphthalmia	ORPHA:261272
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Ventricular septal defect, Anterior encephalocele, Coloboma, Holoprosence...	OMIM:601357
Microphthalmia, Isolated 8	Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia	OMIM:615113
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Patent du...	OMIM:618870
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Ventricular septal defect, Micrognathia...	OMIM:613457
Branchiooculofacial Syndrome	Anophthalmia, Micrognathia, Short neck, Renal cyst, Iris coloboma, Hypospadias, Depressed nasal b...	OMIM:113620
Gray Platelet Syndrome	Epistaxis, Myelodysplasia, Abnormality of the menstrual cycle	ORPHA:721
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Infertility, Chronic rh...	OMIM:616481
Noonan Syndrome 7	Depressed nasal bridge, Hypertelorism, Short neck, Lentigo maligna melanoma, Low posterior hairli...	OMIM:613706
Insulin-Like Growth Factor I, Resistance To	Rieger anomaly, Ventricular septal defect, Micrognathia, Wide nasal bridge, Deeply set eye, High ...	OMIM:270450
Beta-Mercaptolactate Cysteine Disulfiduria	Anteverted nares, High palate, Atrial septal defect, Umbilical hernia, Convex nasal ridge	ORPHA:1035
Ciliary Dyskinesia, Primary, 18	Male infertility, Situs inversus totalis, Rhinitis, Immotile sperm, Recurrent sinusitis, Chronic ...	OMIM:614874
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Trichinellosis	Facial palsy, Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, A...	ORPHA:863
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hyper...	ORPHA:950
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Houge-Janssens Syndrome 3	Broad nasal tip, Hypertelorism, Muscular ventricular septal defect, Proptosis, High palate, Atria...	OMIM:618354
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Decreased response to growth hormone stimulation test, Depressed nasal...	OMIM:614114
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Micrognathia, Subdural hemorrhage, Hypo...	ORPHA:536545
Fibular Hemimelia	Anophthalmia, Spina bifida, Abnormal heart morphology	ORPHA:93323
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Burkitt Lymphoma	Intestinal obstruction, Abnormality of the ovary, Neoplasm of the oral cavity	ORPHA:543
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Redundant neck skin, Anteverted nares, Short neck, Patent ductu...	ORPHA:1842
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Hypospadias, Ventricular septal defect, Anteverted nares, Hypert...	OMIM:300000
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
Tatton-Brown-Rahman Syndrome	Anteverted nares, Ventricular septal defect, Optic nerve hypoplasia, Hypertelorism, Short columel...	OMIM:615879
Giant Cell Arteritis	Glossitis, Pericarditis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis...	ORPHA:397
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Micrognathia,...	OMIM:617022
Contractures-Developmental Delay-Pierre Robin Syndrome	Hypospadias, Micrognathia, Underdeveloped nasal alae, High, narrow palate, Cleft palate, Abnormal...	ORPHA:436003
Lipodystrophy, Familial Partial, Type 2	Prominent superficial veins, Labial pseudohypertrophy, Polycystic ovaries, Increased adipose tiss...	OMIM:151660
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:600460
Fetal Alcohol Syndrome	Anteverted nares, Micrognathia, Visceral angiomatosis, Cleft palate, Atrial septal defect, Microp...	ORPHA:1915
Brachydactyly, Type B1	Micropenis, Delayed eruption of permanent teeth, Ventricular septal defect	OMIM:113000
Muscle-Eye-Brain Disease	Cataract, Optic atrophy	ORPHA:588
Pituitary Gigantism	Mandibular prognathia, Elevated circulating growth hormone concentration, Amenorrhea, Pituitary p...	ORPHA:99725
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Pulmonary artery stenosis, A...	ORPHA:75389
Coffin-Siris Syndrome 7	Wide nose, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Depressed nasal br...	OMIM:618027
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Ventricular septal defect, Depressed nasal bridge, Micrognathia, Hypertelorism, Patent ductus art...	OMIM:617061
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Car...	OMIM:102200
Bohring-Opitz Syndrome	Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ...	OMIM:605039
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Deeply set eye, Atrial septal defect, Microp...	OMIM:614526
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Renal cyst,...	ORPHA:488618
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, M...	OMIM:164210
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Atrial septal defect, Microphth...	ORPHA:2728
Doors Syndrome	Thickened nuchal skin fold, Adrenal hyperplasia, Anteverted nares, Broad nasal tip, Hypertelorism...	ORPHA:79500
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Anterior open-bite malocclusion, Perimembranous ventricular septal defect, High...	OMIM:617877
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Oligomeganephronia	Branchial cyst, Pulmonary venous occlusion, Micrognathia, Secundum atrial septal defect, Optic di...	ORPHA:2260
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Anteverted nares,...	OMIM:619720
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Depressed nasal bridge, Ventricular septal defect, Proptosis, Pulmonary hypoplasia, Ambiguous gen...	OMIM:617895
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Cleft p...	OMIM:600987
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Depressed nasal bridge, Spina bifida, Choanal atresia, ...	ORPHA:2369
Floating-Harbor Syndrome	Hypospadias, Prominent nasal bridge, Prominent nose, Carious teeth, Cryptorchidism, Celiac diseas...	OMIM:136140
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Cleft palate, Secondar...	OMIM:615300
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Decreased response to growth hormone stimulation test, Micrognathia, Ascen...	OMIM:619503
Mosaic Trisomy 16	Meckel diverticulum, Hypospadias, Ventricular septal defect, Abnormality of the nose, Large place...	ORPHA:1708
Developmental And Epileptic Encephalopathy 93	Optic atrophy, Iris coloboma	OMIM:618012
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Micrognathia, Precocious puberty, Cryptorchidism, Labial hypertrophy, ...	ORPHA:96191
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Germ cell...	ORPHA:90797
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop...	OMIM:619260
Prader-Willi Syndrome Due To Translocation	External genital hypoplasia, Decreased response to growth hormone stimulation test, Micrognathia,...	ORPHA:177907
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology, Decreased nerve conduction velocity	ORPHA:90658
Tetrasomy 15Q26	Microretrognathia, Hypertelorism, Hydrocephalus, Hypoplastic aortic arch, Patent ductus arteriosu...	OMIM:614846
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Peripheral pulmonary artery stenosis, Wide nose, Bicuspid aortic valve, Depressed nasal bridge, S...	OMIM:300707
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Recurrent respiratory infections, Intestinal obstruction, Ventricular septal defect, Intestinal m...	OMIM:243150
Wagro Syndrome	Aniridia, Cataract, Corneal opacity	OMIM:612469
Zechi-Ceide Syndrome	Mandibular prognathia, Wide nose, Wide nasal bridge, Cleft palate, Abnormal heart morphology, Atr...	ORPHA:217017
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Optic nerve hyp...	OMIM:609053
Rubinstein-Taybi Syndrome 1	Premature thelarche, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, High, nar...	OMIM:180849
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:99949
Optic Atrophy 8	Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials	OMIM:616648
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Cataract, Persistent pupillary membrane	OMIM:257850
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Depressed nasal bridge, Ventricular septal defect, Hypertelorism, Micrognathia	OMIM:616901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane	OMIM:613150
Ciliary Dyskinesia, Primary, 19	Male infertility, Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bron...	OMIM:614935
C Syndrome	Ventricular septal defect, Anteverted nares, Micrognathia, Cryptorchidism, Patent ductus arterios...	OMIM:211750
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hype...	OMIM:615279
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Hypertelorism, Bifid nasal tip, Anteriorly placed anus, Microphthalmia	ORPHA:2717
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Ventricular septal defect, Prominent nasal bridge, Hypertelorism, Cryptorch...	ORPHA:1519
Floating-Harbor Syndrome	Short neck, Hypoplasia of the maxilla, Long nose, Renal cyst, Deeply set eye, Atrial septal defec...	ORPHA:2044
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Micrognathia, Hypertelorism, Cryptorchidism, Bulbous nose, Optic disc ...	ORPHA:251014
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Short neck, Cleft palate, Low posterior hairline, Limited neck range o...	OMIM:214300
Sweeney-Cox Syndrome	Broad neck, Choanal atresia, Micrognathia, Bilateral cryptorchidism, Broad nasal tip, Patent duct...	OMIM:617746
Wolcott-Rallison Syndrome	Atrial septal defect, Double outlet right ventricle	ORPHA:1667
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Micrognathia, Short neck, Abnormal tricuspid valve morphology, Atrial septal...	ORPHA:1507
15Q14 Microdeletion Syndrome	Ventricular septal defect, Prominent nasal bridge, Cleft palate, Deeply set eye, Atrial septal de...	ORPHA:261190
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Short neck, High palate, Atrial septal defect, Patent foramen ovale, Bifid uvula, Hypertelorism, ...	OMIM:617506
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Ventricular septal defect, Cleft palate, Coarctation of aorta	OMIM:620210
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials	OMIM:617523
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Hypertelorism, Single naris, Renal cyst, Pu...	OMIM:615636
Coffin-Siris Syndrome 5	Atrial septal defect, Wide nose, Thick nasal alae, Depressed nasal bridge	OMIM:616938
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri...	ORPHA:280234
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct...	ORPHA:2519
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Ventricular septal defect, External genital hypoplasia, Prominent nasal bridge, Microg...	ORPHA:251028
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Wide nose, Micrognathia, Recurrent pneumonia, Bronchiectasis, H...	OMIM:618282
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Situs inversus totalis, Re...	OMIM:608647
Chops Syndrome	Ventricular septal defect, Anteverted nares, Hypertelorism, Cryptorchidism, Patent ductus arterio...	OMIM:616368
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopigmentation	ORPHA:2719
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Abnormal cerebral vascular morphology, Prominent nose, Precocio...	ORPHA:2637
Kagami-Ogata Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of ...	OMIM:608149
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Al-Raqad Syndrome	Atrial septal defect, Deeply set eye, Short nose	OMIM:616459
Hajdu-Cheney Syndrome	Wide nose, Hypospadias, Ventricular septal defect, Intestinal malrotation, Micrognathia, Absent f...	OMIM:102500
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Recurrent respiratory infections, Anteverted nares, Hypertelorism, Wide nasa...	OMIM:619383
Ring Chromosome 12 Syndrome	Secundum atrial septal defect, Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterin...	ORPHA:1439
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Hypospadias, Ventricular septal defect, Anteverted nares, Protruding tongu...	OMIM:301040
Heart And Brain Malformation Syndrome	Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Hypertelorism, High, narrow ...	OMIM:616920
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Depressed nasal bridge, Micrognathia, Hypertelorism, Hydrocephalus, Cleft palate, Atrial septal d...	ORPHA:459061
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn...	ORPHA:2847
Pagod Syndrome	Encephalocele, Multicystic kidney dysplasia, Spina bifida, Situs inversus totalis, Meningocele, A...	ORPHA:991
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Wound Botulism	Mydriasis	ORPHA:178475
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Trisomy 8P	Abnormal atrioventricular connection, Short neck, Abnormal lung lobation, Aplasia/Hypoplasia of t...	ORPHA:264450
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Ventricular septal defect, Hypertelorism, Secundum atrial septal defect, Paten...	OMIM:619909
Van Esch-O'Driscoll Syndrome	Hypogonadotropic hypogonadism, Ventricular septal defect, Depressed nasal bridge, Esophageal atre...	OMIM:301030
Tangier Disease	Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination, Opacification of the cor...	OMIM:205400
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Cryptorchidism, Renal cyst, A...	ORPHA:166035
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Cr...	ORPHA:1106
Codas Syndrome	Delayed eruption of teeth, Anteverted nares, Ventricular septal defect, Abnormal dental enamel mo...	ORPHA:1458
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Cystinosis	Retinopathy, Corneal opacity	ORPHA:213
3Q29 Microduplication Syndrome	Aniridia, Cataract, Iris coloboma, Sclerocornea	ORPHA:251038
Vogt-Koyanagi-Harada Disease	Retinal detachment, Cataract	ORPHA:3437
Chromosome 6Q24-Q25 Deletion Syndrome	Anteverted nares, High, narrow palate, Hydrocephalus, Patent ductus arteriosus, Dysplastic tricus...	OMIM:612863
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Micrognathia, Bifid nasal tip...	OMIM:619343
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve	OMIM:617744
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Thyroid hypoplasia, Recurrent respiratory infections, Ventricular septal defe...	ORPHA:3047
Brachytelephalangic Chondrodysplasia Punctata	Recurrent respiratory infections, Ventricular septal defect, Optic disc hypoplasia, Optic nerve h...	ORPHA:79345
17Q23.1Q23.2 Microdeletion Syndrome	Depressed nasal bridge, Hypertelorism, Patent ductus arteriosus, Bulbous nose, Bifid nose, Shawl ...	ORPHA:261279
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Ventricular septal defect, Choanal atresia, Underdeveloped nasal...	ORPHA:163979
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Anteverted nares, Micrognathia, Hydrocephalus, Patent ductus arteriosus, A...	ORPHA:2306
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Hydrolethalus Syndrome 1	Broad neck, Hypospadias, Ventricular septal defect, Micrognathia, Bifid uterus, Complete atrioven...	OMIM:236680
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Multiple Sulfatase Deficiency	Corneal opacity, Peripheral demyelination, Retinal degeneration	OMIM:272200
Renpenning Syndrome 1	Mandibular prognathia, Hypospadias, Ventricular septal defect, Micrognathia, Phimosis, Situs inve...	OMIM:309500
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Ververi-Brady Syndrome	Wide nose, Broad nasal tip, Prominent nose, Hypertelorism, Bulbous nose, High palate, Transpositi...	OMIM:617982
Aase-Smith Syndrome I	Hydrocephalus, Ventricular septal defect, Congenital neuroblastoma, Cleft palate	OMIM:147800
Lymphatic Malformation 13	Depressed nasal bridge, Hypertelorism, Patent ductus arteriosus, Cavernous hemangioma, Hydrocele ...	OMIM:620244
Inhalational Botulism	Mydriasis	ORPHA:254504
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul...	OMIM:602782
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Cryptorchidism, Aortic root aneurysm, Ventricular septal defect	OMIM:301039
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Colpocephaly, Macular hypoplasia, Chori...	OMIM:615219
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone...	OMIM:610978
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Facial capillary hemangioma, Micrognathia, Short neck, Abnormal lung lobatio...	ORPHA:818
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Supernumerary ...	ORPHA:457279
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Ventricular septal defect, Anteverted nares, Micrognathia, Choanal atresia, Cryptorc...	OMIM:616975
White Forelock With Malformations	Atrial septal defect, Spina bifida occulta, Hypertelorism	ORPHA:2475
Focal Dermal Hypoplasia	Narrow nasal bridge, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal dental ena...	ORPHA:2092
7Q11.23 Microduplication Syndrome	Hypospadias, Ventricular septal defect, Micrognathia, Broad nasal tip, Cryptorchidism, Hydrocepha...	ORPHA:96121
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Microretrognathia, Dilation of Virchow-Robin spaces, Hypospadias, Ventricu...	OMIM:300998
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma	ORPHA:2791
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Anteverted nares, Depressed nasal bridge, Hypertelorism, Short n...	ORPHA:1340
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Micrognathia, Depressed nasal...	OMIM:610759
Autosomal Recessive Cutis Laxa Type 2A	Abnormal cornea morphology, Corneal opacity	ORPHA:357058
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Anteverted nares, Optic nerve hypoplasia, Micrognathia, Cryptorchidism...	ORPHA:261250
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Micrognathia, Hypertelorism, Hydrocephalus, Tracheoesophageal fistula,...	ORPHA:268249
Roifman Syndrome	Noncompaction cardiomyopathy, Anteverted nares, Ventricular septal defect, Underdeveloped nasal a...	OMIM:616651
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Abnormally large globe, Hydrocephalus, Vascular ring, Atrial septal de...	OMIM:603387
Delpire-Mcneill Syndrome	Ventricular septal defect, Agenesis of corpus callosum, Tracheoesophageal fistula	OMIM:619083
Fanconi Anemia, Complementation Group N	Ventricular septal defect, Hypertelorism, Short neck, Medulloblastoma, Neuroblastoma, Nephroblastoma	OMIM:610832
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Cataract, Corneal opacity	ORPHA:2399
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Patent duct...	OMIM:614080
Full Schwannomatosis	Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa...	ORPHA:93921
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Stroke, Ventricular septal defect	ORPHA:49827
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Hamartoma of tongue, Short neck, Hydrocephalus, Anencephaly, Cleft palate...	OMIM:616546
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu...	ORPHA:99050
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Micrognathia, Epispadias, Partial agenesis of the corpus callosum, Aplas...	OMIM:615948
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Developmental cataract	OMIM:616603
De Barsy Syndrome	Delayed eruption of teeth, Recurrent sinopulmonary infections, Ventricular septal defect, Hyperte...	ORPHA:2962
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Anterior chamber synechiae, Uveitis, Band keratopathy	ORPHA:85410
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Hypospadias, Ventricular septal defect, Anteverted nares, Micrognathia, Prot...	OMIM:214100
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Micrognathia, Hamartomatous polyposis, Intracranial hemorrhage, N...	ORPHA:109
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Branchiogenic-Deafness Syndrome	Branchial cyst, Trismus, Submucous cleft hard palate, Branchial fistula	OMIM:609166
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Partial atrioventricular canal defect, Reduced progressive sperm motility...	OMIM:619608
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary ...	ORPHA:2184
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
X Small Rings	Premature ovarian insufficiency, Ventricular septal defect, Bicuspid aortic valve, Anteverted nar...	ORPHA:96201
Cohen Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Micrognathia...	ORPHA:193
Kaufman Oculocerebrofacial Syndrome	Ventricular septal defect, Intestinal malrotation, Anteverted nares, Micrognathia, Carious teeth,...	OMIM:244450
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Situs inversus totalis	OMIM:619881
Noonan Syndrome 1	Micrognathia, Short neck, High, narrow palate, High palate, Atrial septal defect, Male infertilit...	OMIM:163950
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Webbed neck, Inflammation o...	ORPHA:99413
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Total anomalous pulmo...	ORPHA:261183
Mosaic Monosomy X	Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Webbed neck, Inflammation o...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Webbed neck, Inflammation o...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Webbed neck, Inflammation o...	ORPHA:881
Pelger-Huet Anomaly	Depressed nasal bridge, Ventricular septal defect, Hypertelorism, Umbilical hernia, Median cleft ...	OMIM:169400
Marshall-Smith Syndrome	Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, High palate, Choanal stenosis, As...	OMIM:602535
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect	OMIM:235750
Al Kaissi Syndrome	Torticollis, Depressed nasal bridge, Broad nasal tip, Hypertelorism, High, narrow palate, Wide na...	OMIM:617694
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect, Micrognathia, Recurrent upper respiratory tract infections, Lateral ve...	ORPHA:3078
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Micrognathia, Underdeveloped nasal alae, Hypertelorism, Mitral valve prolapse, Hypotelorism, High...	OMIM:300986
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Hydrocele testis, Patent foramen ovale	OMIM:618832
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Small scrotum, Short neck, Choanal stenosis, Shallow orbits, Atr...	OMIM:269150
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Intestinal malrotation, Cleft palate, Euthyroid goiter, High p...	OMIM:113650
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Male infertility, Nasal polyposis, Pneumonia, Absent frontal sinuses...	OMIM:244400
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Tarp Syndrome	Meckel diverticulum, Anteverted nares, Micrognathia, Hypertelorism, Subdural hemorrhage, Wide nas...	OMIM:311900
Cooper-Jabs Syndrome	Anteverted nares, Ventricular septal defect, Anteriorly placed anus, Umbilical hernia, Malar flat...	ORPHA:1488
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ...	ORPHA:1782
Alagille Syndrome 2	Long nose, Renal cyst, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral p...	OMIM:610205
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect, Wide nasal bridge, Hypertelorism	OMIM:611087
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Blue irides, Ocular albinism, Iri...	OMIM:614077
Magel2-Related Prader-Willi-Like Syndrome	Narrow nasal bridge, Recurrent respiratory infections, Small scrotum, External genital hypoplasia...	ORPHA:398069
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Bicuspid aortic valve, Micrognathia, High, narrow palate, A...	OMIM:612289
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Depressed nasal bridge, Hypertelorism, Lateral ventricle dilatation, Atrial septal defect, Patent...	OMIM:620075
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary ...	OMIM:100300
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Hamamy Syndrome	Hypoparathyroidism, Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism, Complete atrio...	OMIM:611174
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Coloboma, Neoplasm, Atrial septal defect, Hypospadias, Cryptorchidism, Pil...	ORPHA:353281
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypoplasia, Micrognath...	OMIM:620025
Distal Deletion 19P	Vaginal hernia, Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Tricuspid val...	ORPHA:96129
Congenital Disorder Of Glycosylation, Type Iil	Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Esophageal varix, Inflammatio...	OMIM:614576
Thanatophoric Dysplasia Type 1	Depressed nasal bridge, Hydrocephalus, Patent ductus arteriosus, Increased nuchal translucency, A...	ORPHA:1860
Pallister-Hall Syndrome	Small scrotum, Gonadotropin deficiency, Depressed nasal ridge, Abnormal lung lobation, Holoprosen...	ORPHA:672
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma	ORPHA:3301
Neurofibromatosis-Noonan Syndrome	Depressed nasal bridge, Hypertelorism, Secundum atrial septal defect, Cryptorchidism, Short neck,...	OMIM:601321
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Patent foramen ovale, Coarctati...	OMIM:618748
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Increased circulatin...	OMIM:110100
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the c...	OMIM:214110
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Retinal degeneration, Retinopathy, Hyperopic astigmatism	OMIM:252600
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Ventricular septal defect, Prominent nasal bridge, Hypertelorism, Bulbous no...	OMIM:617360
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Lowry-Maclean Syndrome	Developmental glaucoma, Megalocornea, Corneal opacity	ORPHA:2409
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Coloboma, High palate, Shallow orbits, Atrial septal defect, Midface ca...	OMIM:268300
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Alazami Syndrome	Atrial septal defect, Malar flattening, Wide nose, Deeply set eye	ORPHA:319671
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
Mandibulofacial Dysostosis-Microcephaly Syndrome	Micrognathia, Hypoplasia of the maxilla, Cleft palate, Atrial septal defect, Malar flattening, Sh...	ORPHA:79113
White-Sutton Syndrome	Mandibular prognathia, Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia, Broad nasal ...	OMIM:616364
Hypercholesterolemia, Familial, 3	Corneal arcus	OMIM:603776
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Toriello-Carey Syndrome	Aganglionic megacolon, Micrognathia, Short neck, Cryptorchidism, Patent ductus arteriosus, Partia...	ORPHA:3338
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Aniso...	ORPHA:79138
Kury-Isidor Syndrome	Anteverted nares, Ventricular septal defect, Short neck, Deeply set eye, High palate	OMIM:619762
Gm1 Gangliosidosis	Corneal opacity, Abnormal retinal vascular morphology, Optic atrophy, Retinopathy of prematurity,...	ORPHA:354
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Phaver Syndrome	Ventricular septal defect, Depressed nasal bridge, Myelomeningocele, Hypoplastic aortic arch, Coa...	ORPHA:2876
Meier-Gorlin Syndrome 7	Anal stenosis, Hypospadias, Ventricular septal defect, Choanal atresia, Cryptorchidism, Complete ...	OMIM:617063
Jacobsen Syndrome	Short neck, Agenesis of corpus callosum, Iris coloboma, Broad columella, Abnormality of the anus,...	ORPHA:2308
Hypercholesterolemia, Familial, 1	Corneal arcus	OMIM:143890
Codas Syndrome	Delayed eruption of teeth, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, C...	OMIM:600373
Koolen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Patent ...	OMIM:610443
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, C...	OMIM:610536
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy	OMIM:535000
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Partial agenesis of the corpus callosum, Lateral ventricle dilatation,...	ORPHA:79243
Trichothiodystrophy	Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Carious teeth, Cryptorchid...	ORPHA:33364
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Mowat-Wilson Syndrome	Bifid scrotum, Deeply set eye, Chorioretinal coloboma, Atrial septal defect, Agenesis of corpus c...	OMIM:235730
Shashi-Pena Syndrome	Dilation of Virchow-Robin spaces, Broad nasal tip, Hypertelorism, Patent ductus arteriosus, Propt...	OMIM:617190
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Prominent superficial veins, Anteverted nares, Broad nasal tip, Bilateral ...	OMIM:617402
Diamond-Blackfan Anemia 5	Ventricular septal defect, Hypospadias, Hypertelorism	OMIM:612528
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Decreased ferti...	ORPHA:3138
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, Bicuspid aortic valve, Depressed nasal bridge, Cardiomegaly, Micrognathia, Abn...	OMIM:245600
Omodysplasia 1	Ventricular septal defect, Depressed nasal bridge, Micrognathia, Short neck, Cryptorchidism, Pulm...	OMIM:258315
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Tarp Syndrome	Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism, Wide nasal bridge, Cleft palate, T...	ORPHA:2886
Solitary Fibrous Tumor	Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the n...	ORPHA:2126
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Anal stenosis, Aganglionic megacolon, Broad nasal tip, Hype...	OMIM:614749
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra...	OMIM:253800
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Botulism	Mydriasis	ORPHA:1267
Duane-Radial Ray Syndrome	Anal stenosis, Abnormal nasopharynx morphology, Ventricular septal defect, Aganglionic megacolon,...	OMIM:607323
Joubert Syndrome 3	Atrial septal defect, Lateral ventricle dilatation, Anteverted nares, Wide nasal bridge	OMIM:608629
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Hypospadias, Ovotestis, Pulmonary artery stenosis, Cleft palate, Sex r...	OMIM:611812
7Q31 Microdeletion Syndrome	Recurrent respiratory infections, Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of th...	ORPHA:251061
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect	OMIM:113301
Phace Syndrome	Optic nerve hypoplasia, Cerebral arteriovenous malformation, Visceral angiomatosis, Lens coloboma...	ORPHA:42775
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Bicuspid aortic valve, Hypoplastic left heart, Atrial septal defect, Low h...	OMIM:619721
Yunis-Varon Syndrome	Redundant neck skin, Micrognathia, Cardiomegaly, High, narrow palate, Glossoptosis, Atrial septal...	ORPHA:3472
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Hyp...	OMIM:613458
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Ventricular septal defect, Choanal atresia, Micrognathia, Crypto...	OMIM:300712
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Cleft palate, Varicose veins, ...	OMIM:153400
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Cornelia De Lange Syndrome 1	Micrognathia, Short neck, High, narrow palate, Renal cyst, High palate, Hypospadias, Depressed na...	OMIM:122470
Juvenile Polyposis Of Infancy	Depressed nasal bridge, Hypertelorism, High, narrow palate, Patent ductus arteriosus, Rectal prol...	ORPHA:79076
Blau Syndrome	Nongranulomatous uveitis, Cataract, Band keratopathy, Uveitis, Iritis, Cystoid macular edema, Abn...	OMIM:186580
Mogs-Cdg	Wide nose, Left ventricular hypertrophy, External genital hypoplasia, Cardiomegaly, Hydrocele tes...	ORPHA:79330
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Distal Deletion 10Q	Prominent nasal bridge, Micrognathia, Prominent nose, Patent ductus arteriosus, Wide nasal bridge...	ORPHA:96148
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Hypotelorism, High palate, Atrial septal defect, Abnormal dental pulp mo...	ORPHA:363700
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:2715
Short Stature And Facioauriculothoracic Malformations	High palate, Ventricular septal defect, Cleft palate, Short neck	OMIM:609654
Hypercholesterolemia, Familial, 2	Corneal arcus	OMIM:144010
Diamond-Blackfan Anemia	Acute myeloid leukemia, Radial artery aplasia, Hypospadias, Ventricular septal defect, Myelodyspl...	ORPHA:124
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Optic atrophy, Cataract, Opto-chiasmatic atrophy	OMIM:620089
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Orofaciodigital Syndrome Type 14	Microretrognathia, Ventricular septal defect, Hamartoma of tongue, Short neck, Bilateral cryptorc...	ORPHA:434179
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Anteverted nares	OMIM:617450
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Hypoplasia of penis, Short neck, High, narrow palate, Neoplasm, Atrial sep...	ORPHA:373
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Hypospadias, Aganglionic megacolon, Cryptorchidism, High, na...	OMIM:309800
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Wide nasal bridge, Buphthalmos, High palate, Atrial septal defect, Recu...	OMIM:618005
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Secundum atrial septal de...	OMIM:300855
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Patent foramen ovale	OMIM:620327
Bardet-Biedl Syndrome 1	Aganglionic megacolon, High, narrow palate, Abnormality of the ovary, Hypogonadism, Vaginal atres...	OMIM:209900
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteosclerosis, High palate, ...	OMIM:300373
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:609192
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Recurrent respiratory infections, Depressed nasal bridge, Choanal atresia, Prominent nose, Patent...	OMIM:300968
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Facial capillary hemangioma, Micrognathia, Partial agenesis of the ...	OMIM:270400
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Pneumonia, Respiratory tract infection, Atelectas...	ORPHA:51636
Cardiofaciocutaneous Syndrome 1	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Short neck, Hydrocephalus,...	OMIM:115150
Formiminoglutamic Aciduria	Atrial septal defect	ORPHA:51208
Cerebellofaciodental Syndrome	Ventricular septal defect, Short neck, Cryptorchidism, Dental malocclusion, Mitral valve prolapse...	OMIM:616202
Foodborne Botulism	Mydriasis	ORPHA:228371
Syndromic Diarrhea	Atrial septal defect, Villous atrophy, Bicuspid aortic valve, Ventricular septal defect, Gastriti...	ORPHA:84064
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Orthostatic hypotension	OMIM:615510
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Anteverted nares, Micrognathia, Short neck, Cryptorchidism, Dental mal...	ORPHA:444072
Genitopatellar Syndrome	Small scrotum, Micrognathia, Prominent nose, Anteriorly placed anus, Atrial septal defect, Microp...	OMIM:606170
Okamoto Syndrome	Redundant neck skin, Abnormally large globe, Primum atrial septal defect, Exaggerated median tong...	ORPHA:2729
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Recurrent respiratory infections, Hypospadias, Ventricula...	ORPHA:209905
Farber Disease	Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn...	ORPHA:333
Prolactinoma	Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Elevate...	ORPHA:2965
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Microphthalmia, Syndromic 6	Small scrotum, Female hypogonadism, Anophthalmia, Micrognathia, Cryptorchidism, Microglossia, Cle...	OMIM:607932
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val...	ORPHA:3405
Warburg Micro Syndrome 2	Microcornea, Cataract, Optic atrophy, Developmental cataract	OMIM:614225
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Hypospadias, Prominent nasal bridge, Long nose, Cleft palate, Atrial septal defect, Enamel hypopl...	OMIM:619184
Myopathy With Extrapyramidal Signs	Anteverted nares, Ventricular septal defect, Short neck, Hypertelorism	OMIM:615673
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Underdeveloped nasal alae, Hypoplasia of the maxilla, Hypertelorism, Wide na...	ORPHA:306542
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Ventricular septal defect, Micrognathia, Hypertelorism, Cryptorchidism, Renal cyst, ...	OMIM:614866
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Hypertelorism, Bilateral cryptorchidism, Bulbous nose, Pneumothorax, Wid...	OMIM:617403
Kabuki Syndrome 2	Natal tooth, Micrognathia, Broad nasal tip, Dental malocclusion, Cleft palate, Coarctation of aor...	OMIM:300867
Diets-Jongmans Syndrome	Hypospadias, Ventricular septal defect, Broad nasal tip, Cryptorchidism, Low hanging columella, H...	OMIM:618846
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Short neck, Iris coloboma, Hypospadias, Anteverted nares, H...	ORPHA:955
Phelan-Mcdermid Syndrome	Ventricular septal defect, Micrognathia, Hypertelorism, Patent ductus arteriosus, Bulbous nose, D...	OMIM:606232
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Patent ductus a...	OMIM:603467
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a...	OMIM:613795
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Congenital Tufting Enteropathy	Optic disc coloboma, Corneal erosion, Cataract, Punctate keratitis	ORPHA:92050
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Dilation of Virchow-Robin spaces, Narrow nasal ridge, Micrognathia, Aquedu...	OMIM:619512
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Intracranial hemorrha...	OMIM:613406
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Recurrent respiratory infections, Depressed nasal bridge, Broad nasal tip, Hypertelorism, Bulbous...	ORPHA:466950
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Narrow nasal bridge, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Su...	OMIM:300967
Loeys-Dietz Syndrome 5	Overhanging nasal tip, Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of...	OMIM:615582
Wolfram Syndrome 1	Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:222300
Incontinentia Pigmenti	Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Keratitis, Reti...	ORPHA:464
Myhre Syndrome	Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Hypertelorism, Hypoplas...	OMIM:139210
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Hurler-Scheie Syndrome	Corneal opacity	OMIM:607015
Infant Botulism	Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Ventricular septal defect, Prominent nasal bridge, Micrognathia...	OMIM:608670
Ring Chromosome 7 Syndrome	Mandibular prognathia, Hypospadias, Anteverted nares, Prominent nasal bridge, Situs inversus tota...	ORPHA:1449
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal...	ORPHA:2041
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Aganglionic megacolon, Prominent nasal bridge, Micrognathia, Aqueducta...	OMIM:154400
Contractural Arachnodactyly, Congenital	Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Short neck, Patent ductus arterio...	OMIM:121050
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypotelorism, Micropenis, Duod...	OMIM:617798
Esophageal Atresia	Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Abnormal external...	ORPHA:1199
Vici Syndrome	Recurrent respiratory infections, Wide nose, Left ventricular hypertrophy, Depressed nasal bridge...	OMIM:242840
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Micrognathia, Atrial septal defect, Iris coloboma, Ag...	ORPHA:536471
Developmental And Epileptic Encephalopathy 90	Atrial septal defect	OMIM:301058
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Hypospadias, Abnormal heart valve morphology, Micrognathia, Hyp...	ORPHA:280
Lissencephaly 9 With Complex Brainstem Malformation	Depressed nasal bridge, Ventricular septal defect, Hypertelorism	OMIM:618325
Mosaic Trisomy 20	Ventricular septal defect, Micrognathia, Cryptorchidism, Long neck, Dysplastic tricuspid valve, C...	ORPHA:1724
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Transient ischemic attack, Depressed nasal bridge, Supernumerar...	OMIM:600268
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus,...	OMIM:267010
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ...	ORPHA:2255
Waardenburg Syndrome Type 3	Atrial septal defect, Atelectasis, Narrow nasal bridge	ORPHA:896
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity	ORPHA:2323
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Anal stenosis, Anteverted nares, Hypertelorism, Short neck, Patent ductus arte...	ORPHA:280633
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Protruding tongue, Shor...	OMIM:212066
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vas...	ORPHA:2331
Oculodentodigital Dysplasia	Mandibular prognathia, Narrow nasal bridge, Ventricular septal defect, Abnormal dental enamel mor...	ORPHA:2710
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:610651
Fucosidosis	Corneal opacity	ORPHA:349
Warsaw Breakage Syndrome	High palate, Tetralogy of Fallot, Ventricular septal defect, Optic disc coloboma	OMIM:613398
Larsen Syndrome	Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Cryptorchidism, Cleft palate, S...	OMIM:150250
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Myelodysplasia, Micrognathia, Hypertelorism, Short...	OMIM:105650
Hand-Foot-Genital Syndrome	Ventricular septal defect, Bicornuate uterus, Hypospadias, Abnormality of the uterus	ORPHA:2438
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis	OMIM:619239
Nephrotic Syndrome, Type 11	Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Cleft palate, High palate	OMIM:616730
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Ramos-Arroyo Syndrome	Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Hypertelorism, Carious teeth, Pa...	ORPHA:1051
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Micrognathia, Coloboma, High palate, Atrial septal defect, Patent foramen ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Micrognathia, Coloboma, High palate, Atrial septal defect, Patent foramen ...	ORPHA:353277
Lymphatic Malformation 6	Micrognathia, Hydrocele testis, Varicose veins, Pleural effusion, Chylothorax, Webbed neck, Atria...	OMIM:616843
Diamond-Blackfan Anemia 7	Ventricular septal defect, Choanal atresia, Secundum atrial septal defect, Patent ductus arterios...	OMIM:612562
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Ventricular septal defect, Decreased response to growth hormone stimulatio...	ORPHA:488632
Branchiootic Syndrome 1	Branchial fistula, Retrognathia	OMIM:602588
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Micrognathia, Hypertelorism, Pyloric stenosis, Rectal prola...	OMIM:613177
Coffin-Siris Syndrome 4	Narrow nasal bridge, Wide nose, Ventricular septal defect, Mitral atresia, Anteverted nares, Depr...	OMIM:614609
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale, Anteverted nares	OMIM:614961
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Narrow nasal bridge, Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipp...	ORPHA:466791
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Abnormal mitral valve morphology, Prominent nose, Wide nasal bridge, Umbilical hernia, Atrial sep...	ORPHA:1292
Wolf-Hirschhorn Syndrome	Micrognathia, Atrial septal defect, Agenesis of corpus callosum, Iris coloboma, Hypospadias, Hype...	OMIM:194190
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect, Micrognathia	OMIM:607598
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Hypospadias, Submucous cleft hard palate, Deeply set eye, Aortic root aneurysm, Chordee, Atrial s...	OMIM:618891
Mucopolysaccharidosis Type 1	Retinopathy, Optic atrophy, Corneal opacity	ORPHA:579
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Hydrocephalus, Conotruncal defect, Micrognathia	OMIM:243440
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nose, Anteverted nares, Decreased response to growth hormone stimulation test, Supernumerary...	OMIM:213980
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity	OMIM:163200
Hurler Syndrome	Retinal degeneration, Corneal opacity, Opacification of the corneal stroma	OMIM:607014
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Renal-Hepatic-Pancreatic Dysplasia 1	Pancreatic fibrosis, Intestinal malrotation, Pancreatic cysts, Situs inversus totalis, Patent duc...	OMIM:208540
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar...	ORPHA:1018
Trichohepatoenteric Syndrome 1	Villous atrophy, Wide nose, Ventricular septal defect, Hypospadias, Anteverted nares, Hypertelori...	OMIM:222470
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Opacification of the corneal stroma	OMIM:253010
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti...	ORPHA:534
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Renal Agenesis	Absent vas deferens, Ventricular septal defect, Pulmonary hypoplasia, Anal atresia, Aplasia/hypop...	ORPHA:411709
Superficial Siderosis	Anisocoria, Abnormality of the brachial nerve plexus, Abnormality of the vestibulocochlear nerve	ORPHA:247245
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Hypertelorism, Patent ductus arteriosus, Hydrocephalus, High palate, Atrial se...	OMIM:618162
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo...	OMIM:620024
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Multiple pulmonary cysts, Ventricular septal defect, Depressed nasal bridge, W...	OMIM:619418
Coffin-Siris Syndrome 1	Partial agenesis of the corpus callosum, Hypotelorism, High palate, Atrial septal defect, Spina b...	OMIM:135900
Degcags Syndrome	Micrognathia, Prominent nose, Hypotelorism, High palate, Atrial septal defect, Patent foramen ova...	OMIM:619488
Costello Syndrome	Redundant neck skin, Micrognathia, Short neck, High palate, Atrial septal defect, Lymphangiectasi...	OMIM:218040
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intest...	OMIM:263520
Bor Syndrome	Branchial cyst, Multicystic kidney dysplasia, Retrognathia, Cleft palate	ORPHA:107
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, Hypertelorism, Short neck, Cryptorchidism, Hypertrophic cardiomyopathy...	OMIM:607721
Nmda Receptor Encephalitis	Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the...	ORPHA:217253
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Atrial...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Atrial...	ORPHA:363958
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Torticollis, Hypospadias, Micrognathia, Hypertelorism, Cryptorchidism, Short neck,...	OMIM:609945
Chime Syndrome	Ventricular septal defect, Hypertelorism, Supernumerary tooth, Pulmonary valve atresia, Depressed...	ORPHA:3474
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Aganglionic megacolon, Broad nasal tip, Hypertelorism, Wide nasal bridge, Cleft pa...	OMIM:614207
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Optic atrophy, Facial palsy, Mydriasis	OMIM:259720
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Pancreatic fibrosis, Depressed nasal bridge, Pulmonary hypoplasia, Amb...	OMIM:615503
Weill-Marchesani Syndrome 1	Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arter...	OMIM:277600
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
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventricular septal defect	OMIM:615630
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Cataract, Sclerocornea	OMIM:614230
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Wide nose, Short neck, Recurrent bronchopulmonary infections, P...	OMIM:617303
Tangier Disease	Facial diplegia, Peripheral axonal neuropathy, Corneal opacity	ORPHA:31150
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom...	OMIM:150800
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	ORPHA:1556
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Abnormal lung lobation, Renal cyst, Atrial septal defect, Hepatoblastoma, ...	OMIM:312870
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Depressed nasal bridge, Restrictive cardiomyopathy, Micrognathia, Precocious ...	ORPHA:369837
Serotonin Syndrome	Abnormality of the autonomic nervous system, Mydriasis	ORPHA:43116
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Ventricular septal defect, Anteverted nares, Spina bifida, Micrognathia, Pan...	OMIM:274000
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Micrognathia, Atrial septal defect, Patent foramen ovale, Right ventri...	OMIM:208085
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Lead Poisoning	Delayed eruption of teeth, Decreased female libido, Abnormality of the menstrual cycle, Oligozoos...	ORPHA:330015
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypospadias, Ventricular septal defect, Anteverted nares, Broad nasal tip, Carious teeth, Cryptor...	OMIM:619522
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Diamond-Blackfan Anemia 10	Ventricular septal defect, Choanal atresia, Micrognathia, Patent ductus arteriosus, Cleft palate,...	OMIM:613309
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Carious teeth, Lateral...	OMIM:619229
Galloway-Mowat Syndrome 7	Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Cleft palate, High palate	OMIM:618348
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect	ORPHA:500533
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, At...	OMIM:617660
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Micrognathia, Myelomeningo...	ORPHA:1393
Schimke Immuno-Osseous Dysplasia	Corneal opacity	ORPHA:1830
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Optic atrophy, Pigmentary retinopathy, Opacification of the corneal st...	ORPHA:581
Mgat2-Cdg	Ventricular septal defect, Hypertelorism, Patent ductus arteriosus, Abnormal heart morphology, Hy...	ORPHA:79329
Leprechaunism	Enlarged ovaries, Overgrowth of external genitalia, Wide nose, Hypertelorism, Labial hypertrophy,...	ORPHA:508
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Intracranial ...	ORPHA:369929
Restrictive Dermopathy 1	Natal tooth, Hypospadias, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Choanal atres...	OMIM:275210
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Deeply set eye, Micro...	ORPHA:268261
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the...	ORPHA:722
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Bronchiectasis, Uterine prolapse, Emphysema, Convex nasal ridge, Perip...	OMIM:123700
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Depressed nasal ridge, Abnormal lung lobation, Deeply set eye, High palate...	OMIM:607872
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micrognathia, Prominent nose, Short neck, Partial agenesis of the corpus callosum, Renal cyst, At...	OMIM:210710
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Macroglossia, High palate, A...	ORPHA:397709
Townes-Brocks Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Ventricular sept...	OMIM:107480
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormal pulmonary valve ...	ORPHA:857
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Atrial septal defect, Recurrent respiratory infections,...	OMIM:616268
Scalp-Ear-Nipple Syndrome	Anisocoria, Cataract, Iris coloboma, Developmental cataract	OMIM:181270
Teebi-Shaltout Syndrome	Ventricular septal defect, Broad nasal tip, Underdeveloped nasal alae, High, narrow palate, Hyper...	OMIM:272950
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Ctcf-Related Neurodevelopmental Disorder	Anteverted nares, Phimosis, Broad nasal tip, Cryptorchidism, Patent ductus arteriosus, Hypertelor...	ORPHA:363611
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Precocious...	OMIM:616682
Fanconi Anemia, Complementation Group C	Hypergonadotropic hypogonadism, Ventricular septal defect, Cryptorchidism, Microphthalmia, Leukemia	OMIM:227645
Alagille Syndrome 1	Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Long nose, Multiple small medul...	OMIM:118450
Craniotubular Dysplasia, Ikegawa Type	Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis	OMIM:619727
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Narrow nose, Underdeveloped nasal alae, Carious teeth, Cle...	OMIM:164200
Alzahrani-Kuwahara Syndrome	Hypospadias, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Ventricular septal...	OMIM:619268
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity, Hypermyelinated retinal nerve fibers	OMIM:601812
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
Interstitial Cystitis	Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ...	ORPHA:37202
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Patent ductus arteriosus, Overriding aorta, Ventricular septal defect	OMIM:617021
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Cleft palate	ORPHA:50815
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Astigmatism, Corneal opacity, Optic disc pallor	ORPHA:464311
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Renal corticomedullary cysts, Ventricular septal defect, Vascular dilatation	OMIM:219730
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Anterior pituitary hypoplasia, Ventricular septal defect, Narrow nasal tip, Prominen...	ORPHA:464306
Alpha-Mannosidosis, Infantile Form	Optic disc pallor, Astigmatism, Corneal opacity, Cataract	ORPHA:309282
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma	OMIM:601853
Tsh-Secreting Pituitary Adenoma	Male hypogonadism, Hypogonadotropic hypogonadism, Pericardial effusion, Decreased fertility in ma...	ORPHA:91347
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma	OMIM:251290
Wilson Disease	Kayser-Fleischer ring	ORPHA:905
Alström Syndrome	Abnormality of dental color, Decreased response to growth hormone stimulation test, Hypoplasia of...	ORPHA:64
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Cholelithiasis, Hypertrophic cardiomyopathy, Per...	OMIM:618775
21Q22.11Q22.12 Microdeletion Syndrome	Anteverted nares, Hypertelorism, Bulbous nose, Hypoplastic nipples, Atrial septal defect, Agenesi...	ORPHA:261323
Cornelia De Lange Syndrome	Hypoplasia of penis, Micrognathia, Short neck, High palate, Abnormality of the uterus, Atrial sep...	ORPHA:199
Penile Agenesis	Atrial septal defect, Ventricular septal defect, Depressed nasal bridge, Rectal fistula, Cryptorc...	ORPHA:49
Hurler Syndrome	Abnormal nerve conduction velocity, Retinopathy, Corneal opacity	ORPHA:93473
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Lethal Kniest-Like Dysplasia	Short neck, Abnormal cartilage morphology, Abnormal cartilage matrix, Cleft palate, Atrial septal...	ORPHA:2347
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Hypertelorism, Renal cyst, Mitral valve prolapse, Varicose veins, Macr...	OMIM:617107
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Delayed peripheral myelination	ORPHA:364577
Kabuki Syndrome 1	Anal stenosis, Ventricular septal defect, Intestinal malrotation, Premature thelarche, Micrognath...	OMIM:147920
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p...	ORPHA:220460
Moebius Syndrome	Corneal opacity, Facial palsy	ORPHA:570
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Optic atrophy	ORPHA:324
Cowden-Like syndrome	Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma	OMIM:612359
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Optic disc hypoplasia, Ventricular septal defect, Hypertelorism, Wide nasal bridge, Depressed nas...	OMIM:619306
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Micrognathia, Anteverted nares, E...	OMIM:164280
Weill-Marchesani Syndrome 2	Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arter...	OMIM:608328
Branchiootic Syndrome	Branchial fistula, Cleft palate, Micrognathia	ORPHA:52429
Bent Bone Dysplasia Syndrome 2	Thickened nuchal skin fold, Depressed nasal bridge, Short neck, Webbed neck, Shawl scrotum, Atria...	OMIM:620076
Peters-Plus Syndrome	Hypoplasia of the vagina, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Short ne...	OMIM:261540
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Redundant neck skin, External genital hypoplasia, Micrognathia, Hypoplasia...	ORPHA:96334
Constricting Bands, Congenital	Encephalocele, Ectopia cordis, Abnormal lung lobation, Cleft palate	OMIM:217100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Short neck, Patent ductus ...	OMIM:300868
Beck-Fahrner Syndrome	High palate, Ventricular septal defect, Cardiomegaly	OMIM:618798
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Ventricular septal defect, Pneumonia, Pericardial effusion, Dilated cardiomyopathy, Anteriorly pl...	ORPHA:26793
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Depressed nasal bridge, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Depressed nasal t...	OMIM:620005
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, Depressed nasal bridge, Hyperteloris...	OMIM:619575
Mucoepithelial Dysplasia, Hereditary	Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis	OMIM:158310
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Microretrognathia, Atrial septal defect, Hypospadias, Ventricular septal d...	ORPHA:459070
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Underdeveloped nasal alae, Micrognathia, Renal cyst, Broad columella	OMIM:250410
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Abnormal optic disc morphology, Decreased corneal thickness	ORPHA:293967
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Anteverted nares, Choanal atresia, Partial anomalous pulmonary venous ...	OMIM:301044
Arachnoid Cyst	Cranial nerve compression, Facial palsy, Mydriasis	ORPHA:2356
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Pheochromocytoma, Chorioretinal c...	ORPHA:636
3Mc Syndrome 1	Ventricular septal defect, Supernumerary nipple, Hypertelorism, Patent ductus arteriosus, Cleft p...	OMIM:257920
Zttk Syndrome	Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Depressed nasal bridge, ...	OMIM:617140
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Atrial septal defect, Retrognathia	ORPHA:457351
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Intestinal malrotation, Hiatus hernia, Hypertelorism, Cryptorchidism, Pneumoth...	OMIM:601776
Teratoma, Ovarian	Ovarian teratoma	OMIM:166950
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Cranioectodermal Dysplasia 2	Left ventricular hypertrophy, Depressed nasal bridge, Micrognathia, Hypertelorism, Short neck, Pa...	OMIM:613610
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, De...	ORPHA:580
Lymphatic Malformation 7	Pericardial effusion, Increased nuchal translucency, Varicose veins, Chylothorax, Atrial septal d...	OMIM:617300
Cardiac-Valvular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Bulbous nose, Mitral valve prolapse, Aortic root aneurysm, High ...	ORPHA:230851
Helsmoortel-Van Der Aa Syndrome	Atrial septal defect, Recurrent respiratory infections, Anteverted nares, Decreased response to g...	OMIM:615873
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Mucopolysaccharidosis, Type Vii	Corneal opacity	OMIM:253220
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op...	ORPHA:217085
Encephalocraniocutaneous Lipomatosis	Retinopathy, Corneal opacity, Iris coloboma	ORPHA:2396
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Hypertelorism, Abnormal right ventricle ...	ORPHA:500095
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Buphthalmos, Keratoconjunctivitis sicca	ORPHA:495875
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Ventricular septal defect, Prominent nasal bridge, Short neck, Hypoplasia ...	OMIM:609460
Diphallia	Bifid scrotum, Duplicated colon, Rectoperineal fistula, Hypospadias, Epispadias, Cryptorchidism, ...	ORPHA:227
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum...	ORPHA:1071
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Anteverted nares, Hypertelorism, Muscular ventricular septal defect, H...	OMIM:157800
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op...	ORPHA:217093
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria	OMIM:618653
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Spondyloocular Syndrome	Unilateral cryptorchidism, Duodenal ulcer, Mitral valve prolapse, Low posterior hairline, Webbed ...	OMIM:605822
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Ventricular septal defect, Mi...	ORPHA:444077
Keutel Syndrome	Sinusitis, Ventricular septal defect, Cartilaginous ossification of nose, Depressed nasal bridge,...	OMIM:245150
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri...	OMIM:612098
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Short neck, Hydrocephalus, Patent ductus arteriosus, Abnormal h...	ORPHA:505248
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Papilledema, ...	ORPHA:91500
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve...	ORPHA:1880
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Cataract, Optic atrophy, Opacification of the corneal stroma	OMIM:251300
Congenital Disorder Of Glycosylation, Type It	Ventricular septal defect, Cardiomegaly, Micrognathia, Dilated cardiomyopathy, Cleft palate, Coar...	OMIM:614921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi...	OMIM:253280
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h...	ORPHA:99880
Cerebrocostomandibular Syndrome	Anal stenosis, Ventricular septal defect, Cleft soft palate, Micrognathia, Carious teeth, Patent ...	OMIM:117650
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Hypospadias, Ventricular septal defect,...	OMIM:192350
Bardet-Biedl Syndrome 20	Retinal vascular tortuosity, Papilledema, Astigmatism, Rod-cone dystrophy	OMIM:619471
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype...	OMIM:615474
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h...	ORPHA:143
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect, Short neck, Cleft palate, Webbed neck, Long nasal bridge	OMIM:178110
Liver Disease, Severe Congenital	Chronic gastritis, Micrognathia, Biliary hyperplasia, Cardiomegaly, Protein-losing enteropathy, A...	OMIM:619991
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Mandibular prognathia, Bicuspid aortic valve, Cleft hard palate, Deeply set eye, W...	ORPHA:261552
Laubry-Pezzi Syndrome	Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se...	ORPHA:99094
Wiskott-Aldrich Syndrome	Recurrent respiratory infections, Sinusitis, Recurrent intrapulmonary hemorrhage, Epistaxis, Abno...	ORPHA:906
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Developmental cataract	OMIM:127000
Congenital Tracheal Stenosis	Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo...	ORPHA:141127
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Wide nasal bridge, Lateral ventricle dilatation, High palate, Atrial septa...	OMIM:300896
Trichohepatoneurodevelopmental Syndrome	Ventricular septal defect, Hypertelorism, Patent ductus arteriosus, Bulbous nose, Macroglossia, H...	OMIM:618268
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Bicuspid aortic valve, High, narrow palate, Coloboma, Deeply set eye, High palate,...	OMIM:619475
Pituitary Apoplexy	Mydriasis	ORPHA:95613
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity, Corneal ulceration, Corneal opacity	OMIM:615273
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Precocious puberty, Crypt...	ORPHA:438213
Malakoplakia	Abnormality of the menstrual cycle, Orchitis, Neoplasm of the rectum, Abnormality of the neck, Pr...	ORPHA:556
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect	OMIM:619115
Congenital Disorder Of Glycosylation, Type Iiw	Wide nose, Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Hypertelorism, Sup...	OMIM:619525
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert...	ORPHA:90794
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Increased axia...	ORPHA:513456
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cataract, Optic atrophy	ORPHA:314404
Johanson-Blizzard Syndrome	Colonic diverticula, Anal atresia, Hypospadias, Ventricular septal defect, Urethrovaginal fistula...	OMIM:243800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Prominent nasal tip, Small scrotum, Ventricular septal defect, Optic nerve...	OMIM:620330
Otopalatodigital Syndrome, Type Ii	Hypospadias, Depressed nasal bridge, Spina bifida, Micrognathia, Hypertelorism, Cryptorchidism, H...	OMIM:304120
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Cockayne Syndrome B	Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ...	OMIM:133540
Sotos Syndrome	Astrocytoma, No permanent dentition, Neoplasm, Atrial septal defect, Hypospadias, Cryptorchidism,...	ORPHA:821
Lathosterolosis	Microcornea, Cataract, Opacification of the corneal stroma	ORPHA:46059
Alternating Hemiplegia Of Childhood	Abnormal autonomic nervous system physiology, Mydriasis	ORPHA:2131
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity	ORPHA:79396
Limb-Mammary Syndrome	Absent nipple, Cleft hard palate, Cleft palate, Primary amenorrhea, Bilateral breast hypoplasia, ...	ORPHA:69085
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Hypertelorism, Dilated cardiomyop...	OMIM:619573
Schimke Immunoosseous Dysplasia	Astigmatism, Opacification of the corneal stroma	OMIM:242900
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Pallister-Killian Syndrome	Small scrotum, Micrognathia, Short neck, Renal cyst, Anteriorly placed anus, Atrial septal defect...	OMIM:601803
Hardikar Syndrome	Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac disease, Patent duct...	OMIM:301068
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Keratitis, Optic atrophy, Opacification of the corneal str...	ORPHA:910
Peters Plus Syndrome	Cataract, Corneal opacity, Optic atrophy, Microcornea, Peters anomaly, Iris coloboma, Anterior ch...	ORPHA:709
Mucopolysaccharidosis, Type Vi	Corneal opacity	OMIM:253200
Cockayne Syndrome A	Cataract, Retinal atrophy, Abnormal peripheral myelination, Abnormal auditory evoked potentials, ...	OMIM:216400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Depressed nasal bridge, ...	ORPHA:500150
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity	ORPHA:920
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Precocious puberty, Cleft pa...	ORPHA:1934
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Axenfeld anomaly	OMIM:266270
Turnpenny-Fry Syndrome	Mandibular prognathia, Prominent nasal tip, Recurrent respiratory infections, Torticollis, Patent...	OMIM:618371
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Hypotelorism, Atrial septal defect, Micropenis, Anteverte...	OMIM:194050
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Short neck, Cleft palate, Proptos...	OMIM:271640
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Hypoplasia of the thym...	ORPHA:436252
Proximal Spinal Muscular Atrophy	Atrial septal defect, Recurrent aspiration pneumonia, Recurrent infections due to aspiration	ORPHA:70
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Ventricular septal defect, Anterior pituitary hypopla...	OMIM:181450
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Corneal opacity	ORPHA:2072
Gaucher Disease	Retinopathy, Cherry red spot of the macula, Corneal opacity, Abnormal macular morphology	ORPHA:355
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Corneal opacity, Aganglionic megacolon, Keratitis, Corneal erosion, Uveitis, Astigmatism, Conjunc...	ORPHA:2273
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Depressed nasal bridge, Choanal atresia, Prominent nose, Cyst of the ductus choledochus, Patent d...	ORPHA:480880
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect, Macroglossia	ORPHA:93947
Kindler Epidermolysis Bullosa	Conjunctivitis, Corneal opacity	ORPHA:2908
Leigh Syndrome	Ventricular septal defect, Hypertrophic cardiomyopathy, Agenesis of corpus callosum	ORPHA:506
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, Ventricular hypertrophy, Mitral stenosis, Ventricular septal defect, T...	OMIM:143095
Autosomal Dominant Cutis Laxa	Corneal opacity, Developmental cataract	ORPHA:90348
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Wilson Disease	Decreased nerve conduction velocity, Kayser-Fleischer ring	OMIM:277900
Cocaine Intoxication	Mydriasis	ORPHA:90068
Yunis-Varon Syndrome	Absent nipple, Hypospadias, Ventricular septal defect, Anteverted nares, Micrognathia, Hypertelor...	OMIM:216340
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Stuve-Wiedemann Syndrome 1	Abnormal autonomic nervous system physiology, Opacification of the corneal stroma	OMIM:601559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma	OMIM:615287
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	High palate, Ventricular septal defect	OMIM:614653
Wiedemann-Rautenstrauch Syndrome	Cataract, Optic disc hypoplasia, Corneal opacity, Optic atrophy, Pigmentary retinopathy	ORPHA:3455
Lathosterolosis	Cataract, Opacification of the corneal stroma	OMIM:607330
Osteogenesis Imperfecta	Corneal opacity	ORPHA:666
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Cryptorchidism, Recurrent upper...	OMIM:308205
Eisenmenger Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho...	ORPHA:97214
Hypermobile Ehlers-Danlos Syndrome	Malabsorption, Venous insufficiency, Abnormality of the menstrual cycle, Cystocele, Decreased fer...	ORPHA:285
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary...	OMIM:263650
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy	ORPHA:397715
Scorpion Envenomation	Mydriasis	ORPHA:466677
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal pupil morphology	ORPHA:286
Pmm2-Cdg	Mandibular prognathia, Pericarditis, Hypogonadotropic hypogonadism, Prominent nasal bridge, Eleva...	ORPHA:79318
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Mucolipidosis Ii Alpha/Beta	Megalocornea, Opacification of the corneal stroma	OMIM:252500
Hutchinson-Gilford Progeria Syndrome	Corneal ulceration, Corneal opacity	ORPHA:740
African Trypanosomiasis	Pericarditis, Abnormality of the menstrual cycle, Myelopathy, Myocarditis, Abnormal prolactin lev...	ORPHA:3385
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Depressed nasal bridge, Short neck	OMIM:250220
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Ventricular septal defect	OMIM:259770
Plague	Conjunctival hyperemia, Mydriasis	ORPHA:707

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 Pcsk6

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 Pcsk6.

No publications found that use IMPC mice or data for Pcsk6.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Pcsk6^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Pcsk6^em1(IMPC)J	Exon Deletion	Mice

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

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Pcsk6 MGI:102897

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Combined SHIRPA and Dysmorphology

Eye Morphology

Electroretinography 3

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Pcsk6 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data