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Gene: Pcsk6 MGI:102897

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Gene Summary

Name:
proprotein convertase subtilisin/kexin type 6
Synonyms:
SPC4,  b2b2830Clo,  PACE4

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
corneal opacity Pcsk6em1(IMPC)J HOM   Early adult 3.06×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

6 Images

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Electroretinography 3

Fundus file

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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X-ray

XRay Images Forepaw

4 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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X-ray

XRay Images Skull Lateral Orientation

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

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Auditory Brain Stem Response

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

8 Images

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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation... OMIM:615524
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Morquio Syndrome C
Corneal opacity OMIM:252300
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Microphthalmia, Syndromic 9
Micrognathia, Cryptorchidism, Anophthalmia, Ventricular septal defect, Neonatal death, Atrial sep... OMIM:601186
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Abnormal heart morphology, Intestinal malrotation, Prominent nasal bridge, Cry... ORPHA:401935
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Pseudotrisomy 13 Syndrome
Cyclopia, Microphthalmia, Encephalocele, Cryptorchidism, Agenesis of corpus callosum, Ventricular... OMIM:264480
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Retrognathia, Anteverted nares, Increased nuchal tran... OMIM:619879
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Meacham Syndrome
Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Male pseudohermaphroditism, Atr... OMIM:608978
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Aplasia/Hypoplasia involving the nose, Situs inversus totalis, Agenesis of corpus c... ORPHA:990
Microform Holoprosencephaly
Choanal atresia, Cyclopia, Tetralogy of Fallot, Panhypopituitarism, Narrow nasal bridge, Antevert... ORPHA:280200
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Holoprosencephaly
Chorioretinal coloboma, Cryptorchidism, Encephalocele, Ventricular septal defect, Deeply set eye,... ORPHA:2162
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Hypoplasia of the premaxilla, Umbilical hernia, Cyclopia, Abnormal lung lobation, In... ORPHA:2166
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Verheij Syndrome
Wide nasal bridge, Broad nasal tip, Branchial cyst, Retrognathia, Anteverted nares, Truncus arter... OMIM:615583
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect... OMIM:306955
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Ectopic anus, Secondary a... ORPHA:1643
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Wide nasal bridge, Dilated cardiomyopathy, Polycystic ovaries, Hypergonadotro... ORPHA:2229
Galactosialidosis
Corneal opacity ORPHA:351
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Webbed neck, Underdeveloped nasal alae, Abnormal lung lobation, Micrognathia... ORPHA:2516
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Stankiewicz-Isidor Syndrome
Retrognathia, Prominent nose, Micrognathia, Cryptorchidism, Ventricular septal defect, Truncus ar... OMIM:617516
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Emanuel Syndrome
Aortic valve stenosis, Micrognathia, Cryptorchidism, Ventricular septal defect, Deeply set eye, D... OMIM:609029
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Wide nasal bridge, Delayed eruption of teeth, Depressed nasal tip, Microgna... ORPHA:2863
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Depressed nasal bridge, Decreased response to grow... OMIM:220210
Fanconi Anemia, Complementation Group S
Dental malocclusion, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Ovarian... OMIM:617883
Trisomy 18
Iris coloboma, Choanal atresia, Narrow palate, Webbed neck, Microretrognathia, Abnormal morpholog... ORPHA:3380
Genitopalatocardiac Syndrome
Micrognathia, Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the grea... OMIM:231060
Emanuel Syndrome
Aortic valve stenosis, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Ventricular sep... ORPHA:96170
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Trisomy 13
High, narrow palate, Capillary hemangioma, Abnormal morphology of female internal genitalia, Abno... ORPHA:3378
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Monosomy 13Q34
Epistaxis, Broad nasal tip, Prominent nose, Prominent nasal bridge, Micrognathia, Metrorrhagia, A... ORPHA:96168
Chromosome 22Q11.2 Deletion Syndrome, Distal
Underdeveloped nasal alae, Malar flattening, Deeply set eye, Truncus arteriosus, Cleft palate OMIM:611867
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Ventricular septal defect, Agenesis of ... ORPHA:261236
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Recombinant Chromosome 8 Syndrome
Depressed nasal bridge, Tetralogy of Fallot, Anteverted nares, Micrognathia, Cryptorchidism, Mala... OMIM:179613
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Decreased response to growth hormone stimulation test, Anophthalmia, Hy... OMIM:147250
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Underdeveloped nasal alae, Truncus arteriosus, Ventricular septal d... OMIM:601355
Werner Syndrome
Neoplasm of the oral cavity, Decreased fertility, Melanoma, Renal neoplasm, Sarcoma, Cutaneous me... ORPHA:902
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar... ORPHA:145
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Ventricular septal defect, Deeply set eye, Atrial septal defect, Hypertelorism, H... OMIM:618316
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Double Outlet Right Ventricle
Hypoplastic left heart, Depressed nasal bridge, Tetralogy of Fallot, Intestinal malrotation, Hete... ORPHA:3426
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Distal Deletion 10P
Wide nasal bridge, Webbed neck, Micrognathia, Cryptorchidism, Polycystic ovaries, Ectopic anus, A... ORPHA:1580
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Trisomy 1Q
Small scrotum, Depressed nasal bridge, Multicystic kidney dysplasia, Microretrognathia, Increased... ORPHA:261344
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
Meckel Syndrome, Type 8
Depressed nasal ridge, Occipital encephalocele, Encephalocele, Anophthalmia, Short neck, Ambiguou... OMIM:613885
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Semilobar holoprosencephaly, Alobar holoprosencephaly, Duodenal atresia, ... OMIM:301043
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:615723
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Proboscis Lateralis
Chorioretinal coloboma, Anophthalmia, Ventricular septal defect, Hypertelorism, Microphthalmia, H... ORPHA:141099
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Situs inversus totalis, Right aortic arch, Patent ... OMIM:620642
Ovarian Cancer
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma OMIM:167000
Thyroid Cancer, Nonmedullary, 4
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm OMIM:616534
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Pulmonary situs ambiguus, Male infertility, Abnormal sperm motility, Abno... ORPHA:244
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Developmental And Epileptic Encephalopathy 66
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Cryptorchidism, Ventricula... OMIM:618067
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Prominent nasal tip, Left superior vena cava draining to coronary ... OMIM:619143
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Duodenal atresia, Atrioventric... OMIM:270100
Mosaic Trisomy 9
Endocardial fibroelastosis, Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, ... ORPHA:99776
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Cryptorchidism, Anophthalmia, Agenesis of corpus callosum, Ventricular septal defe... ORPHA:77298
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Wide nasal bridge, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Persistent left superior ve... ORPHA:3304
Fetal Minoxidil Syndrome
Depressed nasal bridge, Umbilical hernia, Micrognathia, Cryptorchidism, Ventricular septal defect ORPHA:1918
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Visceral angiomatosis, Neoplasm of the thyroid gland, Venous insuffic... ORPHA:137608
Subependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251639
Ependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251636
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph... ORPHA:528
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter, Situs inversus totalis, Right aortic arch, Chronic rhinitis, Dextroca... OMIM:617577
Holoprosencephaly 2
Alobar holoprosencephaly, Chorioretinal coloboma, Agenesis of corpus callosum, Aplasia of the nas... OMIM:157170
Xp22.13P22.2 Duplication Syndrome
Flared nostrils, Recurrent upper respiratory tract infections, Broad nasal tip, Umbilical hernia,... ORPHA:284180
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Functioning Gonadotropic Adenoma
Impotence, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation ... ORPHA:91348
Acrocardiofacial Syndrome
Wide nasal bridge, Proptosis, Tetralogy of Fallot, Cryptorchidism, Mitral stenosis, Ventricular s... ORPHA:2008
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Lambert Syndrome
Branchial anomaly, Hypospadias, Malar flattening, Ventricular septal defect ORPHA:1296
Basal Cell Nevus Syndrome 1
Wide nasal bridge, Iris coloboma, Hamartomatous stomach polyps, Mandibular prognathia, Cardiac rh... OMIM:109400
Rudiger Syndrome
Micropenis, Depressed nasal bridge, Bicornuate uterus, Ovarian cyst OMIM:268650
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615482
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Marden-Walker Syndrome
High, narrow palate, Pyloric stenosis, Anteverted nares, Micrognathia, Microphthalmia, Cryptorchi... OMIM:248700
Cataract 47
Cataract, Microcornea OMIM:612018
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Proptosis, Neoplasm of the pancrea... ORPHA:370348
Familial Partial Lipodystrophy, Dunnigan Type
Atherosclerosis, Hypertrophic cardiomyopathy, Coronary artery atherosclerosis, Polycystic ovaries... ORPHA:2348
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ab... ORPHA:95430
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Neoplasm, Macroglossia, Glossitis, Ovarian neoplasm, Neoplasm... ORPHA:2221
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Holoprosencephaly 14
Alobar holoprosencephaly, Proboscis, Cyclopia, Anteverted nares, Ventricular septal defect, Doubl... OMIM:619895
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Polycystic ovaries ORPHA:280356
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Hydrolethalus
Bifid uvula, Retrognathia, Micrognathia, Cryptorchidism, Abnormality of the sense of smell, Agene... ORPHA:2189
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Ellis-Van Creveld Syndrome
Natal tooth, Delayed eruption of teeth, Cryptorchidism, Atrial septal defect, Common atrium, Hypo... OMIM:225500
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Secondary amenorrhea, Hypergonadot... ORPHA:3085
Oculocerebrocutaneous Syndrome
Cleft ala nasi, Anophthalmia, Cryptorchidism, Agenesis of corpus callosum, Orbital encephalocele,... OMIM:164180
Dextrocardia
Webbed neck, Abnormality of abdominal situs, Pancreatic hypoplasia, Meckel diverticulum, Abnormal... ORPHA:1666
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Umbilical hernia, Short columella, Ventricular septal defect, Polycystic ovar... ORPHA:1770
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm ORPHA:50944
Apert Syndrome
Choanal atresia, Depressed nasal bridge, Bifid uvula, Proptosis, Delayed eruption of teeth, Hypop... ORPHA:87
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Polycystic ovaries ORPHA:2228
Holoprosencephaly 1
Alobar holoprosencephaly, Proboscis, Microphthalmia, Median cleft palate, Hypotelorism, Agenesis ... OMIM:236100
Winchester Syndrome
Corneal opacity OMIM:277950
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... ORPHA:1359
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Abnormality of the... OMIM:228300
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Chronic sinusitis, Dextrocardia, Infertility, Rhinitis, Bronchiectasis OMIM:618063
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Depressed nasal bridge, Supernumerary nipple, Atrioventricular canal defect, Cryptorchidism, Agen... OMIM:618929
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Atherosclerosis, Hypertrophic cardiomyopathy, Coronary artery atheroscl... ORPHA:79083
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Nasal congestion, Situs inversus totalis, Chronic bronchitis, Ventricular septal... OMIM:616037
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Colonic diverticula, Hypoplasia of the maxilla, Subcutaneous lipoma,... OMIM:158350
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Dextr... OMIM:615444
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Holoprosencephaly-Caudal Dysgenesis Syndrome
Proptosis, Abnormal cerebral vascular morphology, Hypertelorism, Cyclopia, Holoprosencephaly, Cle... ORPHA:2165
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Choanal atresia, Branchial fistula, Underdeveloped nasal alae, Ankyloglossia... ORPHA:261330
Desmoplastic Small Round Cell Tumor
Ileus, Testicular neoplasm, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm of the ... ORPHA:83469
Xk Aprosencephaly Syndrome
Hypotelorism, Ventricular septal defect, Atrial septal defect, Microphthalmia, Abnormal nostril m... ORPHA:3469
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Holoprosencephaly... OMIM:611638
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Wide nasal bridge, High, narrow palate, Retrognathia, Abnormal heart morpholo... ORPHA:96092
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Prem... ORPHA:371428
Mmep Syndrome
Microphthalmia, Mandibular prognathia, Cryptorchidism, Ventricular septal defect ORPHA:3434
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia of the nose, Tetralogy of Fallot, Absent gallbladder, Hypotelorism, Overriding aorta, Mic... ORPHA:3186
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Phenobarbital Embryopathy
Mandibular prognathia, Tetralogy of Fallot, Malar flattening, Abnormal mitral valve morphology, H... ORPHA:1919
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Delayed eruption of teeth, Underdeveloped nasal alae, Anteriorly plac... ORPHA:2315
Distal Duplication 5Q
Carious teeth, Chorioretinal coloboma, Prominent nasal bridge, Micrognathia, Cryptorchidism, Vent... ORPHA:96097
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Webbed neck, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus,... OMIM:617478
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Situs inversus totalis, Dextrocardia, Sinusitis, Infertility, Recurrent respirat... OMIM:606763
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Orofaciodigital Syndrome I
Carious teeth, Ankyloglossia, Ovarian cyst, Agenesis of corpus callosum, Hypertelorism, High pala... OMIM:311200
Crouzon Syndrome
Hypoplasia of the maxilla, Proptosis, Shallow orbits, Hydrocephalus, Deviated nasal septum, Hyper... OMIM:123500
Fryns Microphthalmia Syndrome
Anophthalmia, Bilateral cleft palate, Microphthalmia, Unicornuate uterus, Neural tube defect OMIM:600776
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Prominent nasal bridge, Patent foramen ovale, Ventricular septal defect... OMIM:618652
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Depressed nasal bridge, Stillbirth, Umbilical hernia, Micrognathia, Abnormal cardiac septum morph... OMIM:308050
Tetralogy Of Fallot
Tetralogy of Fallot, Proptosis, Cryptorchidism, Abnormal nasal morphology ORPHA:3303
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Premature ovarian... OMIM:613680
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Pleural effusion, Diffuse leiomyomatosis, Metror... ORPHA:314478
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Microgn... ORPHA:1926
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali... OMIM:615415
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Bulbous nose, Hypotelorism, Ventricular septal defect, Atrial septa... OMIM:618330
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Familial Partial Lipodystrophy, Köbberling Type
Coronary artery atherosclerosis, Polycystic ovaries ORPHA:79084
Congenital Fibrinogen Deficiency
Volvulus, Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Micr... ORPHA:335
Holoprosencephaly 3
Depressed nasal bridge, Bifid uvula, Proptosis, Abnormality of the nose, Proboscis, Short columel... OMIM:142945
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Bronchogenic cyst,... ORPHA:2969
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysge... OMIM:615542
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Wide nasal bridge, Iris coloboma, Mandibular prognathia, Microretrognathia, Retinal coloboma, Tet... ORPHA:508498
Frasier Syndrome
Primary amenorrhea, Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Microgastria, Abnormal lung lobation, Intestinal malrotation, Esoph... ORPHA:2538
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal... ORPHA:567
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Aortic Arch Interruption
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:2299
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Chronic sinusitis, Chronic rhinitis, Dextrocardia, Recurrent respiratory ... OMIM:614679
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Male infertility OMIM:618948
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Cholelithiasis, Abnormality of the male genitalia, Prominent nose, Prominence ... OMIM:614886
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor... OMIM:158320
Adams-Oliver Syndrome 6
Truncus arteriosus, Esophageal varix, Ventricular septal defect OMIM:616589
Microphthalmia/Coloboma 10
Iris coloboma, Anophthalmia, Chorioretinal coloboma, Microphthalmia OMIM:616428
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Colonic diverticula, Hypoplasia of the maxilla, Subcutaneous lipoma,... OMIM:615109
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Micrognathia, Low posterior hairline, ... ORPHA:1772
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal... OMIM:180295
X-Linked Mandibulofacial Dysostosis
Webbed neck, Hypoplasia of the zygomatic bone, Prominent nasal bridge, Branchial anomaly, Cryptor... ORPHA:1131
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Retrognathia, Cryptorchidism, Redundant neck skin, Ventricular septal defect, Agenesi... OMIM:301056
Luscan-Lumish Syndrome
Irregular menstruation, Malar flattening, Polycystic ovaries, Long nose, Mandibular prognathia OMIM:616831
Mesoaxial Hexadactyly And Cardiac Malformation
External genital hypoplasia, Ventricular septal defect, Atrial septal defect, Torticollis, Patent... OMIM:249670
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Short Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Underdeveloped nasal alae, Rie... OMIM:269880
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Deeply set eye, Ventricular septal defect, Exostoses, Hypertelorism, Pulmoni... ORPHA:251076
Ataxia-Telangiectasia
Recurrent respiratory infections, Neoplasm, Abnormal testis morphology, Polycystic ovaries ORPHA:100
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Tracheoesophag... OMIM:314390
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Micrognathia, Deeply set eye, Ventricular septal defect, Hypertelorism, H... ORPHA:261120
Catel-Manzke Syndrome
Micrognathia, Malar flattening, Ventricular septal defect, Atrial septal defect, Hypertelorism, G... ORPHA:1388
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Retrognathia, Abnormal heart mo... ORPHA:363444
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Atherosclerosis, Hypertrophic cardiomyopathy, Micrognat... ORPHA:280365
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Oligomenorrhea, Prominent superficial veins, Polycystic ovaries OMIM:604367
Cowden Syndrome 5
Thyroid adenoma, Colonic diverticula, Hypoplasia of the maxilla, Subcutaneous lipoma, Goiter, Men... OMIM:615108
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Azoospermia, Congenitall... OMIM:618300
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, M... ORPHA:137605
Congenital Factor Vii Deficiency
Menorrhagia, Epistaxis, Intracranial hemorrhage, Ovarian cyst ORPHA:327
Fetal Trimethadione Syndrome
Depressed nasal bridge, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Ambiguous g... ORPHA:1913
Frontonasal Dysplasia 1
Wide nasal bridge, Cranium bifidum occultum, Bifid nasal tip, Broad nasal tip, Hypoplasia of the ... OMIM:136760
Bardet-Biedl Syndrome 17
Anosmia, Hypogonadism, Situs inversus totalis, Renal cyst, Dextrocardia, Micropenis, Hyposmia OMIM:615994
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Gorlin Syndrome
Wide nasal bridge, Mandibular prognathia, Carious teeth, Meningioma, Neoplasm, Medulloblastoma, C... ORPHA:377
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Left superior vena cava draining directly to the left a... OMIM:619657
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cryptorchidism, Anophthalmia, Agenesis of corpus callosum, Ventricular septa... OMIM:206900
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Ellis Van Creveld Syndrome
Acute leukemia, Delayed eruption of teeth, Abnormal morphology of female internal genitalia, Atri... ORPHA:289
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys... OMIM:613762
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Micrognathia, Ventricular septal defect, Agenesis of corpus callosum, Short ne... ORPHA:93267
Alobar Holoprosencephaly
Depressed nasal ridge, Bifid uvula, Single naris, Proboscis, Aspiration pneumonia, Decreased resp... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depressed nasal ridge, Bifid uvula, Single naris, Proboscis, Aspiration pneumonia, Decreased resp... ORPHA:93926
Lobar Holoprosencephaly
Depressed nasal ridge, Bifid uvula, Single naris, Proboscis, Aspiration pneumonia, Decreased resp... ORPHA:93924
Intellectual Developmental Disorder, Autosomal Recessive 79
Wide nasal bridge, Broad nasal tip, Deeply set eye, Ventricular septal defect, Oligomenorrhea OMIM:620393
Semilobar Holoprosencephaly
Depressed nasal ridge, Bifid uvula, Single naris, Proboscis, Aspiration pneumonia, Decreased resp... ORPHA:220386
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal carcinoma, Nasal polyposis, Abnormality of the nose, Pan... ORPHA:2869
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Adams-Oliver Syndrome 4
Umbilical hernia, Ventricular septal defect, Atrial septal defect, Microphthalmia, Patent ductus ... OMIM:615297
Prune Belly Syndrome
Multicystic kidney dysplasia, Volvulus, Abnormality of the uterus, Tetralogy of Fallot, Decreased... ORPHA:2970
Cystic Echinococcosis
Pulmonary cyst, Abnormality of the testis size, Abnormal heart morphology, Hepatic cysts, Ovarian... ORPHA:400
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Depressed nasal bridge, Retrognathia, Micrognathia, Ventricular septal defect, Agenesis of corpus... OMIM:618142
Atypical Werner Syndrome
Aortic valve stenosis, Neoplasm of the skin, Aortic valve calcification, Neoplasm of the oral cav... ORPHA:79474
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Chronic rhinitis, Dextrocardia, Bronchiectasis OMIM:611884
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Men... ORPHA:1759
Microphthalmia, Syndromic 2
Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Anophtha... OMIM:300166
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Elevated circulating luteinizing hormone level, Male hypogonadism, Precoc... ORPHA:90793
Autism Spectrum Disorder Due To Auts2 Deficiency
Wide nasal bridge, Proptosis, Retrognathia, Umbilical hernia, Abnormal heart morphology, Antevert... ORPHA:352490
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Decreased fertil... OMIM:615067
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Hypertelorism OMIM:277740
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Myelomeningocele, Micrognathia, Hypoplastic nipples, Tracheoesophagea... ORPHA:2437
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Abnormal facial skeleton morphology, Dental malocclus... ORPHA:562
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Colon perforation, Microcolon, Total absence of the pericardium, Hypopla... OMIM:600001
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Lateral ventricle dilatation, Neonatal death, Ventricul... OMIM:619534
Meckel Syndrome
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Encephalocele, Anophthalmia, Male pse... ORPHA:564
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Abdominal situs inversus, Situs inversus totalis, Chronic sinusitis, Dextrocardia, Male infertility OMIM:619607
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidism, A... ORPHA:2326
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... OMIM:605376
Sonoda Syndrome
Depressed nasal bridge, Ventricular septal defect OMIM:270460
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Meningioma, Microphthalmia, Nephroblastoma, Ventricular septal defect, Hy... OMIM:602501
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Cryptorchidism, Atrioventricular canal defect DECIPHER:39
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven... ORPHA:99125
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Micrognathia, Cryptorchidism, Abnormality of the pulmonary artery, Ventricul... ORPHA:1166
Kapur-Toriello Syndrome
Retinal coloboma, Tetralogy of Fallot, Bulbous nose, Intestinal malrotation, Ventricular septal d... ORPHA:2328
Proteus Syndrome
Rib exostoses, Pulmonary cyst, Arteriovenous malformation, Carious teeth, Chorioretinal coloboma,... ORPHA:744
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Broad neck, Anal stenosis, Aplasia of posterior communicating artery... OMIM:613686
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Hypogonadism, External genital hypoplasia, Partial atrioventricular canal... OMIM:615996
Cockayne Syndrome Type 2
Male hypogonadism, Hypoplasia of the primary teeth, Cryptorchidism, Anophthalmia, Delayed eruptio... ORPHA:90322
Gillespie Syndrome
Hypoplasia of the iris, Aniridia, Truncus arteriosus OMIM:206700
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Donnai-Barrow Syndrome
Depressed nasal bridge, Proptosis, Abnormality of the uterus, Umbilical hernia, Intestinal malrot... ORPHA:2143
Microphthalmia With Limb Anomalies
Flared nostrils, Depressed nasal bridge, Retrognathia, Anophthalmia, Interrupted inferior vena ca... OMIM:206920
Li-Campeau Syndrome
Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hypertelor... OMIM:619189
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Micrognathia, Pneumothorax, ... ORPHA:2257
Trisomy X
Precocious puberty, Multicystic kidney dysplasia, Ventricular septal defect, Atrial septal defect... ORPHA:3375
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Deeply set eye, Short nec... ORPHA:508488
Anophthalmia Plus Syndrome
Choanal atresia, Anophthalmia, Bilateral cleft palate, Abnormal nasal morphology, Spina bifida, H... ORPHA:1104
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Situs inversus totalis, Recurrent sinusiti... OMIM:620438
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Anteverted nares, Prominent nasal bridge, Hypotelor... OMIM:612946
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Renal cys... OMIM:617100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Cardiomyopathy, Dysmenorrhea, Polycystic ovaries, Oligomenorrhea, Hepatoc... ORPHA:264580
3C Syndrome
Aortic valve stenosis, Chorioretinal coloboma, Micrognathia, Abnormal mitral valve morphology, Ve... ORPHA:7
Megalencephaly
Wide nasal bridge, Long penis, Deeply set eye, Short neck, Atrial septal defect, Macroorchidism ORPHA:2477
Charge Syndrome
Unilateral microphthalmos, Micrognathia, Cryptorchidism, Anophthalmia, Ventricular septal defect,... OMIM:214800
Charge Syndrome
Chorioretinal coloboma, Cryptorchidism, Anophthalmia, Hypertelorism, Microphthalmia, Aqueductal s... ORPHA:138
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Bifid uvula, Failure of eruption of permanent teeth, Hyposmia, Hypogonadism, External ge... ORPHA:2250
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Pleural effusion, Ovarian fibroma, Odontogenic k... ORPHA:314473
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect OMIM:253300
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Bangstad Syndrome
Abnormality of the parathyroid gland, Deeply set eye, Polycystic ovaries, Convex nasal ridge, Abn... ORPHA:1227
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of... ORPHA:980
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
X-Linked Intellectual Disability, Nascimento Type
Depressed nasal bridge, Peripheral pulmonary artery stenosis, Broad neck, Underdeveloped nasal al... ORPHA:163956
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Catel-Manzke Syndrome
Bifid uvula, Proptosis, Umbilical hernia, Narrow naris, Narrow nose, Micrognathia, Cryptorchidism... OMIM:616145
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Hydrocephalus, Macroglo... ORPHA:65285
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Abnormal heart morphology, Micrognathia, Abnormal aortic valve morp... ORPHA:261197
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Depressed nasal bridge, Ventricular septal defect, Abnormal nasal morphology, Hydrocephalus, Abno... ORPHA:83473
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Natal tooth, Aortic root aneurysm, Anteverted nares, M... OMIM:145420
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Broad nasal tip, Bulbous nose, Anteverted nares, Prominent nasal bridge, Anophthalmia ORPHA:411986
Nemaline Myopathy 9
High palate, Micrognathia, Cleft palate, Ventricular septal defect OMIM:615731
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Broad nasal tip, Gonadal dysgenesis, Hypogonadism, Tetralogy of Fallot, Crypt... ORPHA:3306
Filippi Syndrome
Wide nasal bridge, Proptosis, Underdeveloped nasal alae, Serrated incisors, Cryptorchidism, Ventr... OMIM:272440
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Nasal polyposis, Intestinal bleeding, Intussuscepti... OMIM:175200
Aminopterin/Methotrexate Embryofetopathy
Wide nasal bridge, Mandibular prognathia, Spinal dysraphism, Proptosis, Tetralogy of Fallot, Micr... ORPHA:1908
Hyperparathyroidism, Transient Neonatal
Wide nasal bridge, Hyperparathyroidism, Depressed nasal bridge, Umbilical hernia, Anteverted nare... OMIM:618188
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Oligomenorrhea, Increased adipose tissue around the neck, Abnormal labia majo... ORPHA:435660
Fraser Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Encephalocele, Anophthalmia, Hypertelorism, Hypospadias, Wi... OMIM:219000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Irregular menstruation, Clitoral hypertrophy, Long penis, Ambiguous genitalia... ORPHA:90795
Meacham Syndrome
Aortic valve stenosis, Abnormal vagina morphology, Hydrometrocolpos, Cryptorchidism, Ventricular ... ORPHA:3097
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Underdeveloped nasal alae, Micrognathia, Encephalocele, Pericallosal lipoma, Ven... ORPHA:398156
Maternal Phenylketonuria
Hypoplastic left heart, Wide nasal bridge, Tetralogy of Fallot, Abnormal heart morphology, Anteve... ORPHA:2209
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Anteriorly placed anus, Abnormal heart morphology, Bulbous nose, Increased n... OMIM:618494
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Wide nasal bridge, Bifid uvula, Cystic hygroma, Underdeveloped nasal alae, Abnormal heart morphol... ORPHA:453499
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Joubert Syndrome With Ocular Defect
Retinal coloboma, Anteverted nares, Prominent nasal bridge, Encephalocele, Agenesis of corpus cal... ORPHA:220493
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Micrognathia, Deeply set eye, Bicuspid aortic valve, Short neck, Atrial septal defect, Hypertelor... OMIM:612474
Abruzzo-Erickson Syndrome
Iris coloboma, Chorioretinal coloboma, Cryptorchidism, Malar flattening, Coloboma, Atrial septal ... ORPHA:921
Microphthalmia With Linear Skin Defects Syndrome
Clitoral hypertrophy, Micrognathia, Anophthalmia, Mitral valve prolapse, Agenesis of corpus callo... ORPHA:2556
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Tetrasomy 9P
Micrognathia, Absent gallbladder, Cryptorchidism, Abnormal mitral valve morphology, Deeply set ey... ORPHA:3310
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Depressed nasal bridge, Webbed neck, Broad nasal tip, Decreased response to growth hormone stimul... OMIM:618223
Chromosome 15Q25 Deletion Syndrome
Webbed neck, Coronary artery fistula, Cryptorchidism, Ventricular septal defect, Short neck, Abno... OMIM:614294
Digeorge Syndrome
Micrognathia, Intervertebral disk degeneration, Ovarian cyst, Ventricular septal defect, Hypertel... OMIM:188400
Vacterl With Hydrocephalus
Retrognathia, Micrognathia, Cryptorchidism, Anophthalmia, Tracheoesophageal fistula, Abnormal fal... ORPHA:3412
Anencephaly 2
Bifid nose, Anencephaly, Anophthalmia, Median cleft palate OMIM:619452
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Anophthalmia, Cryptorchidism, Agenesis of corpus callosum, Microphthalmia... ORPHA:139471
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Micrognathia, Cryptorchidism, Ventricular septal defec... ORPHA:2256
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Hypogonadism, External genital hypoplasia, Bicuspid aortic valve, Atrial ... OMIM:615981
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Histiocytoid Cardiomyopathy
Stroke-like episode, Congenital aphakia, Agenesis of corpus callosum, Cardiomegaly, Ventricular s... ORPHA:137675
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Agenesis of corpus callosum, Atrial septal defect, ... OMIM:300887
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Bilateral microphthalmos, Umbilical hernia, Abnormal h... ORPHA:369891
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased testicular size, De... ORPHA:90796
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Dysplastic corpus callosum, Cardiomegaly, Perimembra... OMIM:620135
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... ORPHA:1354
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Cerebrooculonasal Syndrome
Anophthalmia, High palate, Abnormal nostril morphology, Hypoplasia of penis, Hypertelorism ORPHA:66625
Monosomy 9Q22.3
Delayed eruption of teeth, Umbilical hernia, Medulloblastoma, Cardiac fibroma, Nephroblastoma, Ov... ORPHA:77301
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries ORPHA:79085
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Tetralogy of Fallot, Hypotelorism, Deeply set eye, Ambiguous genitalia, Hyposp... ORPHA:276422
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Proptosis, Ovarian cyst OMIM:246200
Faciocardiomelic Syndrome
Depressed nasal bridge, Dental malocclusion, Hyperplasia of the maxilla, Anteverted nares, Microg... OMIM:612731
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Bulbous nose, Cryptorchidism, Patent foramen ovale, Short neck, Coloboma,... OMIM:616789
Frontoocular Syndrome
Proptosis, Capillary hemangioma, Prominent nasal bridge, Micrognathia, Hypotelorism, Atrial septa... OMIM:605321
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Opitz Gbbb Syndrome
Natal tooth, Aortic root aneurysm, Ankyloglossia, Micrognathia, Cryptorchidism, Agenesis of corpu... ORPHA:2745
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Cryptorchidism, Ventricular septal defect OMIM:616816
Frank-Ter Haar Syndrome
Depressed nasal bridge, Broad nasal tip, Secundum atrial septal defect, Proptosis, Abnormally lar... OMIM:249420
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Coarctation of aorta, Atrial septal defect, Hypertelorism, Incisor macrodontia, P... OMIM:615502
Estrogen Resistance
Breast aplasia, Primary amenorrhea, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Neuroendocrine Neoplasm Of Appendix
Adenocarcinoma of the colon, Adrenocorticotropic hormone excess, Mechanical ileus, Ileal adenocar... ORPHA:100079
Ectopic Aldosterone-Producing Tumor
Epistaxis, Ovarian neoplasm, Renal cortical adenoma ORPHA:231632
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Depressed nasal ridge, Interrupted aortic arch, Tetralogy of Fallot, Micr... ORPHA:1727
Seizures-Scoliosis-Macrocephaly Syndrome
Bulbous nose, Cryptorchidism, Atrial septal defect, Exostoses, Hypertelorism ORPHA:466926
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Cryptorchidism, Anophthalmia, Mic... ORPHA:2470
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Choanal atresia, Recurrent pneumonia, Bifid uvula, Broad neck, Retrognathia, Optic disc coloboma,... OMIM:300472
Periventricular Nodular Heterotopia 7
Microretrognathia, Proptosis, Anteverted nares, Micrognathia, Cryptorchidism, Deeply set eye, Ven... OMIM:617201
Down Syndrome
Protruding tongue, Acute megakaryocytic leukemia, Ventricular septal defect, Atrial septal defect... OMIM:190685
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Ocular Cystinosis
Corneal crystals ORPHA:411641
Femoral-Facial Syndrome
Underdeveloped nasal alae, Micrognathia, Encephalocele, Cryptorchidism, Agenesis of corpus callos... OMIM:134780
Carpenter Syndrome 2
Carious teeth, Supernumerary nipple, Narrow naris, Cryptorchidism, Short neck, Atrial septal defe... OMIM:614976
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Cryptorchidism, Anophthalmia, Bilateral c... OMIM:610829
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries ORPHA:435651
Kapur-Toriello Syndrome
Retinal coloboma, Intestinal malrotation, Bulbous nose, Cryptorchidism, Ventricular septal defect... OMIM:244300
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the maxilla, Umbilical hernia, Aniridia, Cryptorchidism, Anoph... ORPHA:1101
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Micrognathia, Atrial septal defect, Ventricular septal defect OMIM:608227
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ventricular septal defect, Neonatal death, Microphthalmia, Cystic renal dysplasia OMIM:613730
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Cerebrooculonasal Syndrome
Narrow palate, Hypoplastic male external genitalia, Proboscis, Anteverted nares, Prominent nasal ... OMIM:605627
Marden-Walker Syndrome
Abnormal penis morphology, Bifid uvula, Multicystic kidney dysplasia, Retrognathia, Micrognathia,... ORPHA:2461
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Wide nasal bridge, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atri... ORPHA:251071
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Aplasi... OMIM:277000
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Fibrous Dysplasia Of Bone
Precocious puberty in females, Abnormal facial skeleton morphology, Abnormal mandible morphology,... ORPHA:249
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Dys... ORPHA:3109
Walker-Warburg Syndrome
Bifid uvula, Cryptorchidism, Anophthalmia, Agenesis of corpus callosum, Submucous cleft hard pala... ORPHA:899
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
King-Denborough Syndrome
Webbed neck, Broad nasal tip, Bilateral cryptorchidism, Cryptorchidism, Ventricular septal defect... OMIM:619542
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Umbilical hernia, Abnormal heart morphology, Anteverted nares, Prominent nas... ORPHA:500159
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Umbilical hernia, Hypertrophic cardiomyopathy, Labial hypertrophy, Decrease... OMIM:269700
Noonan Syndrome 8
Webbed neck, Hypertrophic cardiomyopathy, Pleural effusion, Cryptorchidism, Ventricular septal de... OMIM:615355
Suleiman-El-Hattab Syndrome
Wide nasal bridge, Webbed neck, Microretrognathia, Cryptorchidism, Patent foramen ovale, Ventricu... OMIM:618950
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Malar flattening, Ventricular septal defect, Ectopic anus, Hypertelorism, Mandibular prognathia, ... ORPHA:94066
Bardet-Biedl Syndrome
Inflammation of the large intestine, Hydrometrocolpos, Cryptorchidism, Polycystic ovaries, Short ... ORPHA:110
Ciliary Dyskinesia, Primary, 36, X-Linked
Nasal congestion, Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, ... OMIM:300991
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
German Syndrome
Wide nasal bridge, Depressed nasal bridge, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Sho... ORPHA:2077
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Dysmenorrhea, Polycystic ovaries, Oligomenorrhea, Hepatocellular adenoma,... ORPHA:79240
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Multicystic kidney dysplasia, Broad nasa... ORPHA:1596
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Mandibular prognathia, Branchial cyst, Cryptorchidism, Pulmonary artery stenosis, Sacral lipoma, ... ORPHA:435938
Distal 22Q11.2 Microduplication Syndrome
Depressed nasal ridge, Webbed neck, Branchial fistula, Optic disc coloboma, Bulbous nose, Microgn... ORPHA:261337
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Poland Syndrome
Dextrocardia OMIM:173800
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Cryptorchidism, Ventricular septal defect, Ambiguous genitalia, Hypertelo... ORPHA:2772
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Manitoba Oculotrichoanal Syndrome
Bifid nasal tip, Anal stenosis, Broad nasal tip, Anteriorly placed anus, Anophthalmia, Microphtha... OMIM:248450
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Proptosis, Umbilical hernia, Hypoplasia of the iris, Int... OMIM:222448
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Retrognathia, Tetralogy of Fallot, Micrognathia, Mitral val... OMIM:612561
Cockayne Syndrome Type 1
Male hypogonadism, Hypoplasia of the primary teeth, Cryptorchidism, Anophthalmia, Delayed eruptio... ORPHA:90321
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellect