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Gene: Glyr1 MGI:1921272

Gene Summary

Name:

glyoxylate reductase 1 homolog (Arabidopsis)

Synonyms:

3930401K13Rik, 2810419J22Rik, NDF, Npac

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	Allele	Zyg	Life Stage	P Value
abnormal retina blood vessel morphology	Glyr1^em1(IMPC)Tcp	HET	Early adult	1.52×10^-05
enlarged lymph nodes	Glyr1^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased mean corpuscular hemoglobin concentration	Glyr1^em1(IMPC)Tcp	HET	Early adult	4.35×10^-05
abnormal iris morphology	Glyr1^em1(IMPC)Tcp	HOM	Early adult	3.74×10^-06
polycystic kidney	Glyr1^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal retina vasculature morphology	Glyr1^em1(IMPC)Tcp	HET	Early adult	2.00×10^-05
short tibia	Glyr1^em1(IMPC)Tcp	HOM	Early adult	1.80×10^-06
abnormal skin morphology	Glyr1^em1(IMPC)Tcp	HOM	Early adult	0.00
impaired pupillary reflex	Glyr1^em1(IMPC)Tcp	HOM	Early adult	2.92×10^-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 Slit Lamp

132 Images

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Eye Morphology

Images Ophthalmoscopy

152 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Gross Pathology and Tissue Collection

Images

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Glyr1 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 Glyr1 (0 diseases)
Human diseases predicted to be associated with Glyr1 (1040 diseases)

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

The table below shows human diseases predicted to be associated to Glyr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Bardet-Biedl Syndrome 10	Renal insufficiency, Retinal dystrophy, Renal cyst, Polydactyly, Rod-cone dystrophy	OMIM:615987
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Nephronophthisis 14	Retinal degeneration, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Flat acetabul...	OMIM:184260
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Femoral-Facial Syndrome	Short femur, Micrognathia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney,...	ORPHA:1988
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Meckel Syndrome 13	Retinopathy, Polycystic kidney dysplasia, Micrognathia	OMIM:617562
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ...	OMIM:615779
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Campomelia, Cumming Type	Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia, Polysplenia	OMIM:211890
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Rod...	OMIM:615993
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts, Retinal vascular tortuosity	ORPHA:73229
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short digit, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wideni...	OMIM:613091
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea...	ORPHA:2091
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Rod-cone dystrophy, Retinal degen...	OMIM:615982
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Micromeli...	OMIM:614091
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Micrognathia, Brushfield spots, Metatarsus adductus, Optic nerve dysplasia, Pigmentary ...	OMIM:214110
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Meckel Syndrome, Type 8	Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged k...	OMIM:613885
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Micrognathia, Postaxial polydactyly, Missing ribs, Ulnar bowing, Preax...	OMIM:617866
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Polycystic kidney dysplasia	OMIM:614859
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Splenom...	OMIM:263200
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Rhyns Syndrome	Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon...	ORPHA:140976
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula...	OMIM:607941
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Metaphyseal widening, Short long bone, Narrow greater ...	OMIM:263210
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
2Q24 Microdeletion Syndrome	Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ...	ORPHA:1617
Cardiomyopathy, Dilated, 2H	Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Congenital Disorder Of Glycosylation, Type Il	Hip dislocation, Polycystic kidney dysplasia, Hepatosplenomegaly	OMIM:608776
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Trisomy 17P	Hypoplasia of penis, Urethral valve, Cataract, Talipes, Micrognathia, Tapered finger, Urethral st...	ORPHA:261290
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Joubert Syndrome 20	Postaxial polydactyly, Retinopathy, 4-5 toe syndactyly, Renal cyst	OMIM:614970
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio...	OMIM:615994
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Joubert Syndrome 16	Retinal dystrophy, Polydactyly, Renal cyst, Nephronophthisis	OMIM:614465
Meckel Syndrome, Type 9	Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus	OMIM:614209
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Hypospadias, Micrognathia, Brushfield spots, Splenomegaly, Metatarsus adductus, Optic n...	OMIM:614866
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Renal agenesis, Hypoplastic scapulae, Micrognathia, Missi...	OMIM:200980
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Corneal dystrophy, Micrognathia, Dilatation of the ren...	ORPHA:314588
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Proximal renal tubular acidosis,...	OMIM:181180
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal renal morphology, Transient ne...	ORPHA:356961
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Hip dysplasia, Clinodactyly of th...	ORPHA:3375
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Ureteral duplication, Renal insufficiency, Cataract, Tapered toe, Long-chain dicarboxyl...	OMIM:608836
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Retinal detachment, Short femur, Rhizomelia, Hypospadias, Sandal gap, Hypoplasia o...	OMIM:607143
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Brachydactyly, Bowing of the long b...	ORPHA:3103
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Developmental cataract, Proxi...	OMIM:231680
Arima Syndrome	Proteinuria, Polyuria, Retinal dystrophy, Postaxial hand polydactyly, Optic atrophy, Stage 5 chro...	OMIM:243910
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx...	OMIM:601559
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia	OMIM:258865
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Fibular hypoplasia, Lateral humeral condyle aplasia, Opacification of ...	OMIM:164900
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Bardet-Biedl Syndrome 6	Syndactyly, Hypospadias, Postaxial polydactyly, Renal cyst, Pigmentary retinopathy, Rod-cone dyst...	OMIM:605231
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc...	OMIM:120330
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte...	OMIM:263520
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Joubert Syndrome 39	Postaxial polydactyly, Retinal dystrophy, Joint contracture of the 5th finger, Polycystic kidney ...	OMIM:619562
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Branchiootorenal Syndrome 1	Renal malrotation, Congenital hip dislocation, Unilateral renal agenesis, Renal steatosis, Polycy...	OMIM:113650
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Stage 5 chronic...	OMIM:613390
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Asplenia, Splenomegaly, Pancreatic cysts, Ureteral atresia, Stage 5 chronic ...	OMIM:208540
Joubert Syndrome 7	Retinal dystrophy, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney dise...	OMIM:611560
Peroxisome Biogenesis Disorder 6A (Zellweger)	Epiphyseal stippling, Renal cyst	OMIM:614870
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Renal agenesis, S...	OMIM:134780
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Abnormality of the kidney, Tibial torsion, Micrognathia, Absent radius, Aplasi...	ORPHA:3320
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna...	OMIM:619879
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bo...	OMIM:608940
Joubert Syndrome 18	Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Renal cyst, Horseshoe kidney, Ta...	OMIM:614815
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
15q26 overgrowth syndrome	Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Micrognathia, Tapered finger...	DECIPHER:81
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect	OMIM:615297
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Hajdu-Cheney Syndrome	Hypospadias, Micrognathia, Absent frontal sinuses, Renal cyst, Foot acroosteolysis, Osteolytic de...	OMIM:102500
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Splenomegaly, Developmental glaucoma, Renal cyst, Buphthalmos, Polycystic kidne...	OMIM:610199
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Bowing of the long bones, Syndactyly, Renal agenesis...	OMIM:249000
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney diseas...	OMIM:208500
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Mckusick-Kaufman Syndrome	Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand p...	OMIM:236700
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Micrognathia, 2-3 toe syndactyly, Large hands, Clinodactyly of the 5th...	OMIM:606232
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Renal cyst, Knee...	OMIM:210710
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Radioulnar synostosis, Multicystic kidney dysplasia	ORPHA:3270
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Postaxial polydactyly, Preaxial polydactyly, Retinal coloboma, Sho...	OMIM:616546
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Floating-Harbor Syndrome	Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Abnormal anterior chamber morphology, Dislo...	ORPHA:2044
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k...	ORPHA:26791
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agenesis, Cutaneous...	OMIM:236500
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow...	OMIM:300009
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Anisocoria, R...	OMIM:613550
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur, Glandular hypospadias	OMIM:620306
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst, Micrognathia	OMIM:231060
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Retinal hemorrhage, Renal cyst, Hematuria	OMIM:611773
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Epidermal Nevus Syndrome	Astigmatism, Polycystic kidney dysplasia	ORPHA:35125
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Retinal astrocytic hamartoma, Retinal hamartoma, ...	ORPHA:805
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Short mandibular rami, Sclerocornea, Morni...	OMIM:612109
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed ep...	OMIM:300554
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Acromelic Frontonasal Dysostosis	Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly...	OMIM:603671
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Distal Deletion 12Q	Broad hallux, Overlapping toe, Ectopic kidney, Micrognathia, 2-3 toe syndactyly, Large hands, Sho...	ORPHA:96149
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Renal hypoplasia/aplasia, Micrognathia, Abnormality of the spleen, Missi...	ORPHA:1834
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis...	ORPHA:3404
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Proteinuria, Pancreatic cysts, Ovarian cyst, Short 2nd toe, Polyda...	OMIM:311200
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect	OMIM:613759
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
22Q11.2 Deletion Syndrome	Cataract, Hypospadias, Abnormality of the tonsils, Arachnodactyly, Micrognathia, Retinal arteriol...	ORPHA:567
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Trisomy 13	Cataract, Abnormal retinal vascular morphology, Postaxial hand polydactyly, Abnormality of the ur...	ORPHA:3378
Tibial Hemimelia	Absent tibia	OMIM:275220
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Renal cyst	OMIM:611561
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Diaphanospondylodysostosis	Narrow pelvis bone, Multiple renal cysts, Missing ribs	ORPHA:66637
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart	OMIM:616276
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl...	ORPHA:1788
Coach Syndrome 1	Optic disc pallor, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts,...	OMIM:216360
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Micrognathia, Renal hypoplasia/aplasia, Multiple renal cysts, Abnormal hip bone morphology, Vesic...	ORPHA:1166
Polysyndactyly With Cardiac Malformation	Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Hepatic cysts	OMIM:263630
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Micrognathia, Metaphyseal chondrodysplasi...	OMIM:250410
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Accessory spleen, Syndactyly...	OMIM:268300
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Verheij Syndrome	Renal agenesis, Optic nerve hypoplasia, Hip dislocation, Renal hypoplasia, Renal cyst, Short 5th ...	OMIM:615583
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Rena...	OMIM:614175
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect	OMIM:619717
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Cataract, Septo-optic dysplasia, Micrognathia, Missing ribs, Optic ...	ORPHA:3301
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Hypersplenism, Splenomegal...	ORPHA:731
Mosaic Trisomy 1	Microretrognathia, Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Campt...	ORPHA:1692
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small p...	ORPHA:96334
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde...	OMIM:274000
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Cystic renal dysplasia, Postaxial foot polydactyly, Poly...	OMIM:615989
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor...	OMIM:221900
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Short lower limbs, Leukocoria, Bowing of the legs	OMIM:219250
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, Macular degeneration, Nephronop...	OMIM:266920
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Cataract, Renal agenesis, Optic atrophy, Short...	OMIM:220500
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Genu recurvatum, Lower limb asymmetry, Splenome...	ORPHA:2969
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Proteinuria, Hypoplasi...	OMIM:609049
Bardet-Biedl Syndrome 19	Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular...	OMIM:615996
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Caroli Disease	Splenomegaly, Conjunctival icterus, Polycystic kidney dysplasia	ORPHA:53035
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo...	OMIM:307800
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Pes planus, Short metacarpal, Micrognathia, Metaphyseal chondrodysplasia, Renal cy...	ORPHA:166035
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Cataract, Renal cyst, Opisthotonus, Nephrocalcinosis, Choreoathetosis, 3-Met...	ORPHA:445038
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Splenomegaly, Abnormality of the lower lim...	ORPHA:3035
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Rod-cone dystro...	OMIM:618161
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre...	ORPHA:464329
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
14Q11.2 Microdeletion Syndrome	Ventricular septal defect	ORPHA:261120
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Ectopic kidney, Mi...	ORPHA:233
Zellweger Syndrome	Multicystic kidney dysplasia, Cataract, Hypospadias, Abnormal chorioretinal morphology, Corneal o...	ORPHA:912
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Renal cyst, Chorioretinal coloboma	ORPHA:2031
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Woolly Hair Nevus	Brachydactyly, Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Myopathy, Tubular Aggregate, 1	Hyporeflexia of lower limbs, Abnormal pupil morphology, Areflexia of lower limbs	OMIM:160565
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:619189
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Grange Syndrome	Ventricular septal defect	ORPHA:79094
Ogden Syndrome	Microretrognathia, Global glomerulosclerosis, Torticollis, Congenital hip dislocation, Sandal gap...	OMIM:300855
Hadziselimovic Syndrome	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect	OMIM:612946
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Asplenia, Femoral bowing, Talipes equinovarus, Cystic renal dysplasia, Enlarged ki...	OMIM:615415
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Micrognathia,...	OMIM:618150
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Calf muscle pseudohypertrophy, Cataract, Optic nerve hypoplasia, Optic atroph...	ORPHA:370959
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Focal Dermal Hypoplasia	Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, Finger syndactyly, Multicystic kid...	ORPHA:2092
Syndromic Diarrhea	Splenomegaly, Hypoplasia of the thymus, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:84064
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Renal hypoplasia/a...	ORPHA:958
Caroli Syndrome	Hypersplenism, Conjunctival icterus, Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect	OMIM:618330
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Abnormal choriore...	ORPHA:564
Meckel Syndrome, Type 2	Bowing of the long bones, Polydactyly, Postaxial hand polydactyly, Renal cyst	OMIM:603194
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Multicystic kidney dysplasia, Polydactyly, Postaxial hand polydactyly	OMIM:607361
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Aplasia/Hypoplasia of the optic nerve, Hb...	ORPHA:423479
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Long foot, Abnormal thumb morphology, ...	ORPHA:500095
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Cornelia De Lange Syndrome 1	Micromelia, Ectopic kidney, Micrognathia, Proximal placement of thumb, Renal cyst, Microcornea, V...	OMIM:122470
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Pallister-Hall Syndrome	Renal dysplasia, Syndactyly, Hydroureter, Mesoaxial foot polydactyly, Toe syndactyly, Distal uret...	OMIM:146510
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Retinal cotton wool spot, Abnormal retinal vascular morphology, Macular edema,...	ORPHA:247691
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Pes planus, Short metacarpal, Cataract, Bowed humerus, Epiphyseal dysplasia, T...	OMIM:272460
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Fetal megacystis...	ORPHA:73246
Omodysplasia 2	Short humerus, Hypospadias, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomel...	OMIM:164745
Campomelia, Cumming Type	Multicystic kidney dysplasia, Bowing of the long bones, Micromelia, Pancreatic cysts, Clubbing of...	ORPHA:1318
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Micrognathia, Tapered finger, Hypoplasia of the iris, Astigmatism, Metatarsus valgu...	ORPHA:2479
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Harrod Syndrome	Multicystic kidney dysplasia, Cataract, Arachnodactyly, Hypospadias, Abnormal shoulder morphology...	ORPHA:2115
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephri...	ORPHA:91500
Chromosome 17Q12 Deletion Syndrome	Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect...	OMIM:614527
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Multicystic kidney dysplasia, Renal agenesis, Aplastic clavicl...	ORPHA:2538
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t...	OMIM:602450
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Cataract, Renal agenesis, Preaxial hand polydactyly, Microcornea, I...	ORPHA:1297
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:860
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Short ...	ORPHA:3163
Oculodentodigital Dysplasia	Finger syndactyly, Neurogenic bladder, Cataract, Toe syndactyly, Camptodactyly of finger, Short h...	ORPHA:2710
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Micrognathia,...	ORPHA:3015
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Flexion contracture of finger, Optic disc pallor, Hypospadias, Corneal opacit...	ORPHA:464311
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Pes planus, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Spherophakia, A...	OMIM:601552
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:618974
Nephronophthisis-Like Nephropathy 1	Kinetic tremor, Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidne...	OMIM:613159
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Postaxial hand polydactyly,...	ORPHA:110
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Down-sloping shoulders, Tapered finger, Renal cyst, Conjunctivitis, Clinodactyly	OMIM:615560
Joubert Syndrome 2	Renal insufficiency, Retinal dystrophy, Abnormal foot morphology, Postaxial hand polydactyly, Opt...	OMIM:608091
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ...	OMIM:612561
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis	OMIM:249270
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect	OMIM:618624
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Tapered finger, Micrognathia, Dystonia, Clinodactyly of the 5th finger	OMIM:618829
2Q37 Microdeletion Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Small hand, Sh...	ORPHA:1001
Joubert Syndrome With Hepatic Defect	Renal insufficiency, Multicystic kidney dysplasia, Tremor, Splenomegaly, Postaxial hand polydacty...	ORPHA:1454
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Small hand, Talipes equinovarus, Camptodactyly, Clinodactyly	OMIM:619980
Joubert Syndrome 1	Optic disc pallor, Retinal dystrophy, Postaxial hand polydactyly, Optic disc coloboma, Renal cyst...	OMIM:213300
Occipital Horn Syndrome	Pes planus, Recurrent urinary tract infections, Brachydactyly, Down-sloping shoulders, Aplastic c...	ORPHA:198
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Micrognathia, Hypoplasia of the iris, Anterior synechiae ...	ORPHA:96125
14Q24.1Q24.3 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:401935
Mosaic Trisomy 9	Hypoplasia of penis, Corneal opacity, Rocker bottom foot, Micromelia, Micrognathia, Asplenia, Cam...	ORPHA:99776
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Micrognathia, Hypoplastic ilia, Patellar aplasia, ...	ORPHA:85201
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Neuhauser Syndrome	Iridodonesis, Pes planus, Genu recurvatum, Arachnodactyly, Micrognathia, Genu valgum, Hypoplasia ...	OMIM:249310
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcino...	OMIM:615398
Alagille Syndrome	Keratoconus, Hypoplasia of the ulna, Corneal dystrophy, Renal hypoplasia/aplasia, Micrognathia, A...	ORPHA:52
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyl...	OMIM:236680
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:49827
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad...	OMIM:260660
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle...	OMIM:179613
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp...	ORPHA:2473
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Retinal detachment, Micrognathia...	ORPHA:1556
Meckel Syndrome, Type 6	Postaxial hand polydactyly, Renal cyst, Horseshoe kidney, Postaxial foot polydactyly, Aplasia of ...	OMIM:612284
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Postaxial polydactyly, Micrognathia, Renal hypoplasia, Renal cyst, Corneal ...	OMIM:618460
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Optic atrophy, Renal cyst, Epiphyseal stippling, Rod-cone dystrophy	OMIM:601539
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Lymphangiectasis, Renal cyst	OMIM:602579
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Diaphanospondylodysostosis	Nephrogenic rest, Micrognathia, Missing ribs, Nephroblastomatosis, Horseshoe kidney, Narrow pelvi...	OMIM:608022
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Splenomegaly, Short toe, Renal hypoplasia, Short foot, ...	OMIM:269860
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Cataract, Hypospadias, Tarsal synostosis, Short hallux, Ureteral obstru...	ORPHA:90652
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Purine Nucleoside Phosphorylase Deficiency	Tremor, Splenomegaly, Recurrent urinary tract infections, Lymph node hypoplasia	OMIM:613179
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Broad hallux, Sandal gap, Optic atrophy, Ectopia pupillae, Astigmatism, Clinodactyly, 3...	OMIM:618727
Phocomelia, Schinzel Type	Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Micrognathia, ...	ORPHA:2879
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Optic disc pallor, Toe syndactyly, Hypospadias, Corneal opacity, Unilateral renal ...	ORPHA:464306
Axial Osteomalacia	Renal cyst	OMIM:109130
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia	OMIM:614922
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Pes planus, Cataract, Hypospadias, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ect...	OMIM:615877
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of...	ORPHA:261344
Meckel Syndrome, Type 4	Bowing of the long bones, Postaxial hand polydactyly, Renal cyst	OMIM:611134
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol...	ORPHA:284169
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Retinal pigment epithelial mottling, Knee flexion contracture, Calf muscle...	OMIM:618733
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi...	OMIM:617052
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Meige Disease	Lymph node hypoplasia, Pedal edema, Absence of lymph node germinal center	ORPHA:90186
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney...	OMIM:267010
Joubert Syndrome 14	Postaxial polydactyly, Morning glory anomaly, Optic atrophy, Renal cyst	OMIM:614424
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Noonan Syndrome 8	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	OMIM:615355
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis...	ORPHA:887
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Pes planus, Long foot, Bowing of the legs, Long hallux, Renal cyst, Pedal edem...	OMIM:617107
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Familial Dysautonomia	Glomerulopathy, Renal insufficiency, Corneal opacity, Abnormality of the kidney, Abnormal pupil m...	ORPHA:1764
Transketolase Deficiency	Increased level of ribose in urine, Cataract, Uveitis, Renal cyst, Conjunctivitis	ORPHA:488618
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect	OMIM:126320
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Weill-Marchesani Syndrome 2	Iridodonesis, Short metacarpal, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Short...	OMIM:608328
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
Meacham Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial ano...	OMIM:608978
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Woods Syndrome	Ventricular septal defect	OMIM:615236
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Chorioretinal coloboma, Triphalangeal thumb, Limbal dermoid,...	ORPHA:857
Alagille Syndrome 1	Duplicated collecting system, Hypoplasia of the ulna, Posterior embryotoxon, Cataract, Band kerat...	OMIM:118450
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Hypoplastic right heart	OMIM:618142
Trisomy 20P	Finger syndactyly, Hypospadias, Abnormality of the kidney, Talipes, Micrognathia, Camptodactyly o...	ORPHA:261318
2P15P16.1 Microdeletion Syndrome	Pes planus, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Optic nerve hypopl...	ORPHA:261349
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Renal cyst	OMIM:614862
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent...	OMIM:618316
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, ...	OMIM:270400
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Ventricular septal defect	ORPHA:2516
Charcot-Marie-Tooth Disease Type 1E	Hyporeflexia of lower limbs, Peroneal muscle weakness, Equinovarus deformity, Peroneal muscle atr...	ORPHA:90658
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect	OMIM:620210
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect	OMIM:616589
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,...	ORPHA:210122
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:613870
Orofaciodigital Syndrome Type 1	Finger syndactyly, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Tarsal synosto...	ORPHA:2750
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:500159
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Cataract, Hypospadias, Nephroblastoma, Micrognathia, Renal cyst, Sh...	OMIM:257300
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Joubert Syndrome 21	Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Short ribs, Hyperechogenic kidneys, Retin...	OMIM:615636
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Developmental Delay With Or Without Dysmorphic Facies And Autism	Micrognathia, 2-3 toe cutaneous syndactyly, Optic disc coloboma, Renal hypoplasia, Renal cyst, Sh...	OMIM:618454
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:615668
Holt-Oram Syndrome	Ventricular septal defect, Anomalous pulmonary venous return, Hypoplastic left heart, Atrial sept...	ORPHA:392
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Sclerocornea, Micrognathia, Proximal placement of thumb, Talipes calcaneoval...	ORPHA:818
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Hypospadias, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, An...	OMIM:180500
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve...	OMIM:600987
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Abnormality iris morphology	ORPHA:250999
Congenital Rubella Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:290
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,...	ORPHA:7
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Micrognathia, Hypercalciuria, Renal cyst, Upper limb undergrowth, Nephrocalcinosis, Slender long ...	ORPHA:369837
Townes-Brocks Syndrome 1	Short metatarsal, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger ...	OMIM:107480
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Knobloch Syndrome 1	Duplicated collecting system, Attenuation of retinal blood vessels, Retinal detachment, Optic dis...	OMIM:267750
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Jacobsen Syndrome	Broad hallux phalanx, Multicystic kidney dysplasia, Cataract, Finger syndactyly, Pes planus, Toe ...	ORPHA:2308
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Fryns Syndrome	Microretrognathia, Ureteral duplication, Hypospadias, Renal agenesis, Proximal placement of thumb...	OMIM:229850
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	ORPHA:329224
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Micrognathia, Postaxial hand polydactyly, Brachydactyly	ORPHA:2075
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Periventricular Nodular Heterotopia 7	Ventricular septal defect	OMIM:617201
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh...	ORPHA:2714
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis	OMIM:616559
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Absent tonsils	ORPHA:276
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Cystic Echinococcosis	Renal cyst, Ovarian cyst, Membranous nephropathy, Splenic cyst, Hepatic cysts	ORPHA:400
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Abnormality of the lymphatic system, O...	ORPHA:538
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Talipes equinovarus, Vesicoure...	ORPHA:261494
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	OMIM:618494
Serkal Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Short metacarpal, Optic atrophy, Acetabular dysplasia, Broad thumb, Short distal ph...	OMIM:201180
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial septal defect, Overriding aorta, Ventricular septal defect	OMIM:601927
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:608572
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect	ORPHA:2256
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Micrognathia, Choreoathetosis, Hand polydactyly, Dystonia	ORPHA:261197
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Corneal opacity, Micrognathia, Clinodactyly of the 5th...	ORPHA:2059
Charge Syndrome	Hypoplasia of the ulna, Cataract, Renal agenesis, Down-sloping shoulders, Micrognathia, Absent ra...	OMIM:214800
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Clinodactyly of the 5th fi...	ORPHA:373
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Trisomy 9P	Clinodactyly of the 5th finger, Abnormal pupil morphology, Brachydactyly	ORPHA:236
Roifman Syndrome	Noncompaction cardiomyopathy, Ventricular septal defect	OMIM:616651
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of...	OMIM:218330
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Hajdu-Cheney Syndrome	Coarse metaphyseal trabecularization, Cataract, Hypospadias, Brachydactyly, Bowing of the long bo...	ORPHA:955
Acrocephalopolydactylous Dysplasia	Micromelia, Postaxial hand polydactyly, Polysplenia, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Isolated Klippel-Feil Syndrome	Ventricular septal defect	ORPHA:2345
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At...	ORPHA:477817
Facial Spasm	Anisocoria	OMIM:134300
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Congenital Disorder Of Glycosylation, Type Ia	Proteinuria, Tremor, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Rod-cone dystrophy, In...	OMIM:212065
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:369891
Mody	Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Retinopathy	ORPHA:552
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Partial...	OMIM:619343
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype...	OMIM:615474
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Cardiac Diverticulum	Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ...	ORPHA:1686
Scimitar Syndrome	Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur...	ORPHA:185
Proteus Syndrome	Central heterochromia, Neoplasm of the thymus, Abnormal finger morphology, Renal cyst, Chorioreti...	ORPHA:744
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul...	OMIM:619657
22Q11.2 Duplication Syndrome	Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea...	ORPHA:1727
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Donnai-Barrow Syndrome	Ventricular septal defect	ORPHA:2143
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	ORPHA:3426
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Retinal hamartoma, Renal cyst, Achromatic reti...	OMIM:613254
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Oculocerebrorenal Syndrome Of Lowe	Chorioretinal dysplasia, Micrognathia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalci...	ORPHA:534
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
King-Denborough Syndrome	Ventricular septal defect	OMIM:619542
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Heterotaxy, Visceral, 1, X-Linked	Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardiomegaly, M...	OMIM:306955
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:75389
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect	ORPHA:79243
1P36 Deletion Syndrome	11 pairs of ribs, Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the kidney, Camptoda...	ORPHA:1606
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Ventricular septal defect	OMIM:619909
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Pancreatic cysts, Renal cyst, Pedal edema, Abnormal spleen morph...	ORPHA:284
Tuberous Sclerosis 1	Renal cyst, Achromatic retinal patches, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary lym...	OMIM:191100
Peters Plus Syndrome	Ureteral duplication, Micromelia, Micrognathia, Microcornea, Clinodactyly of the 5th finger, Iris...	ORPHA:709
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Broad hallux phalanx, Toe s...	ORPHA:1507
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Microphthalmia, Syndromic 9	Atrial septal defect, Ventricular septal defect, Hypoplastic left atrium, Pulmonic stenosis, Neon...	OMIM:601186
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Cataract, Urethrovaginal fistula, Micromelia, Micrognathia, Preaxial hand po...	ORPHA:93271
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial septal defect, Aortic va...	OMIM:609029
D-Bifunctional Protein Deficiency	Micrognathia, Splenomegaly, Split hand, Renal cyst, Hammertoe, Talipes equinovarus	OMIM:261515
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Chromosome 6Pter-P24 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale	OMIM:612582
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618870
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Ventricular septal defect	OMIM:301039
Neurooculorenal Syndrome	Hypoplasia of the bladder, Iris atrophy, Unilateral renal agenesis, Micrognathia, Short hallux, S...	OMIM:620305
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Abnormal hemoglobin, Anemia	ORPHA:847
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect	OMIM:218350
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Ventricular septal defect	OMIM:617452
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal...	ORPHA:3097
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Hypospadias, Micrognathia, Optic atrophy, Renal cyst, Hip dysplasia, Clinodactyly of ...	OMIM:616975
Methimazole Embryofetopathy	Ventricular septal defect	ORPHA:1923
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:603387
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Diabetic Embryopathy	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	ORPHA:1926
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:208085
Cranioectodermal Dysplasia 2	Syndactyly, Renal insufficiency, Rhizomelia, Micrognathia, Splenomegaly, Postaxial hand polydacty...	OMIM:613610
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Ventricular septal defect	OMIM:619769
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Metaphyseal widening, Tibial bowing, Retinal calcification, Exudative ret...	OMIM:259770
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopath...	OMIM:300373
Transaldolase Deficiency	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:606003
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:505237
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Histiocytoid Cardiomyopathy	Corneal opacity, Optic atrophy, Renal cyst, Polycystic ovaries, Megalocornea, Congenital aphakia	ORPHA:137675
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:609053
Schinzel-Giedion Syndrome	Hypospadias, Overlapping toe, Micrognathia, Abnormality of the ureter, Nephrolithiasis, Renal cys...	ORPHA:798
Multiple System Atrophy 1, Susceptibility To	Urinary urgency, Iris atrophy, Tremor, Urinary incontinence	OMIM:146500
Keutel Syndrome	Ventricular septal defect	ORPHA:85202
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ...	ORPHA:892
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:617516
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Micrognathia, 2-3 toe cutaneous syndactyly, Small hand...	ORPHA:1596
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Corneal dystrophy, Corneal opacity, Micrognathia, Optic nerve hypoplasia, Renal cyst...	ORPHA:495875
19P13.3 Microduplication Syndrome	Ventricular septal defect	ORPHA:447980
Cerebrocostomandibular Syndrome	11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Calcaneal epiphyse...	OMIM:117650
Pearson Syndrome	Renal insufficiency, Cataract, Proteinuria, Splenomegaly, Lacticaciduria, Renal cyst, Corneal str...	ORPHA:699
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial septal defect, Aortic va...	ORPHA:96170
Noonan Syndrome 4	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:610733
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia	OMIM:619774
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Pelger-Huet Anomaly	Ventricular septal defect	OMIM:169400
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect	OMIM:617021
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do...	ORPHA:371428
Congenital Disorder Of Glycosylation, Type Iil	Atrial septal defect, Ventricular septal defect	OMIM:614576
Myopathy With Extrapyramidal Signs	Ventricular septal defect	OMIM:615673
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Talipes equinovarus, Pes planus, Renal dysplasia, Renal cyst	OMIM:617260
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Cooper-Jabs Syndrome	Ventricular septal defect	ORPHA:1488
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:457279
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc...	OMIM:617478
Orofaciodigital Syndrome Type 4	Finger syndactyly, Renal agenesis, Camptodactyly of finger, Micromelia, Micrognathia, Renal hypop...	ORPHA:2753
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Ventricular septal defect	OMIM:617061
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1908
3P25.3 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	ORPHA:435638
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Hypospadias, Short greater sciatic notch, F...	OMIM:312870
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Costello Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse	ORPHA:3071
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, Recurrent urinary tract infections, Conjunctivitis	OMIM:300755
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect	ORPHA:3078
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
X-Linked Lissencephaly With Abnormal Genitalia	Ventricular septal defect	ORPHA:452
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect	OMIM:613680
Kagami-Ogata Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:608149
Carpenter Syndrome 1	Ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis, Atrial septal ...	OMIM:201000
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis	OMIM:301056
19P13.12 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:254346
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Atrial septal defect, Aortic valve ste...	OMIM:601808
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa...	ORPHA:26793
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve	OMIM:616652
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst, Retinal capillary ...	OMIM:193300
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Kapur-Toriello Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Char Syndrome	Ventricular septal defect	ORPHA:46627
Williams Syndrome	Hypoplasia of penis, Micrognathia, Tremor, Abnormal tubulointerstitial morphology, Nephrocalcinos...	ORPHA:904
Contractural Arachnodactyly, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse	OMIM:121050
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial sept...	OMIM:616564
Kinsship Syndrome	Pes planus, Micrognathia, Coxa valga, Hip dislocation, Renal hypoplasia, Horseshoe kidney, Fibula...	OMIM:619297
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:618775
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Multicystic kidney dysplasia, Optic nerve dysplasia, Retinal dysplasia, Opacifi...	OMIM:615287
Trisomy 10P	Thumb contracture, Abnormality of the kidney, Micrognathia, Abnormal foot morphology, Short toe, ...	ORPHA:171929
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de...	OMIM:264480
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:619123
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary veno...	OMIM:270100
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Microcornea, Clinodac...	ORPHA:199
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Robinow Syndrome	Syndactyly, Multicystic kidney dysplasia, Brachydactyly, Micrognathia, Bifid distal phalanx of th...	ORPHA:97360
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect	ORPHA:369929
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr...	ORPHA:2299
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Neonatal Marfan Syndrome	Long toe, Iridodonesis, Arachnodactyly, Micrognathia, Ectopia lentis, Long fingers, Talipes calca...	ORPHA:284979
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:2519
Cat Eye Syndrome	Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo...	OMIM:115470
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Total absence of t...	OMIM:600001
Diamond-Blackfan Anemia 7	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:612562
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:457193
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic...	OMIM:605275
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect	OMIM:617360
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:617159
Chromosome 9P Deletion Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:158170
Sotos Syndrome	Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect	OMIM:117550
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:145420
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium	ORPHA:220460
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis	OMIM:613001
Pentalogy Of Cantrell	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal pericardium morpho...	ORPHA:1335
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Tetrasomy 9P	Renal dysplasia, Aplasia/Hypoplasia of the clavicles, Recurrent urinary tract infections, Hypopla...	ORPHA:3310
Heart And Brain Malformation Syndrome	Ventricular septal defect	OMIM:616920
Gm1 Gangliosidosis	Cardiomyopathy, Ventricular septal defect, Abnormal heart morphology	ORPHA:354
Short Stature-Micrognathia Syndrome	Ventricular septal defect	OMIM:617164
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616449
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Atrial septal defect, Truncus arteriosus, Tetralogy o...	ORPHA:2008
Phaver Syndrome	Ventricular septal defect	ORPHA:2876
Ogden Syndrome	Ventricular septal defect	ORPHA:276432
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developm...	OMIM:175780
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri...	OMIM:618280
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Atrial septal defect, Ventricular septal defect, Coronary artery fistula	OMIM:620024
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Cataract, Corneal opacity, Micrognathia, Clinodactyly of the 5th fi...	ORPHA:1052
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Asplenia, Abnormal pupil morphology, Calcaneovalgus deformity, Microcornea,...	ORPHA:261552
Seckel Syndrome 9	Atrial septal defect, Ventricular septal defect	OMIM:616777
19Q13.11 Microdeletion Syndrome	Ventricular septal defect	ORPHA:217346
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect	ORPHA:52055
Noonan Syndrome 3	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At...	OMIM:609942
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ventricular septal defect	OMIM:309520
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op...	ORPHA:649
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect	OMIM:219730
Pagod Syndrome	Abnormality of the spleen, Multicystic kidney dysplasia, Optic atrophy, Renal hypoplasia/aplasia	ORPHA:991
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Kapur-Toriello Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:244300
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent foramen ovale	OMIM:620113
Branchiooculofacial Syndrome	Cataract, Renal agenesis, Hypospadias, Proximal placement of thumb, Micrognathia, Short thumb, Pr...	OMIM:113620
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect	ORPHA:77298
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Ventricular septal defect	OMIM:300998
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect	OMIM:612530
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right...	ORPHA:2209
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Micrognathia, Patellar...	OMIM:606170
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia	OMIM:614294
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis	OMIM:614114
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	ORPHA:1780
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Ventricular septal defect	OMIM:300963
Koolen-De Vries Syndrome	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis	OMIM:610443
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Pes planus, Arachnodactyly, Abnormality iris morphology	ORPHA:91387
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:617602
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Bohring-Opitz Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:605039
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect	OMIM:106260
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:453499
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis	OMIM:610759
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, P...	OMIM:265380
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Atrial septal defect, Pericardial effusion, Pericardial lymphangiectasia, Ventricular septal defect	OMIM:235510
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Brain-Lung-Thyroid Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram...	ORPHA:209905
Beckwith-Wiedemann Syndrome	Ureteral duplication, Splenomegaly, Choroideremia, Nephrolithiasis, Hypercalciuria, Congenital me...	ORPHA:116
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalous pulmonary ve...	OMIM:190685
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Asplenia, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Mi...	ORPHA:261537
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Recombinant 8 Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	ORPHA:96167
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261236
C Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Talipes, Micromelia, Micrognathia, Renal hypoplasia...	ORPHA:1308
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ...	ORPHA:2255
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart	OMIM:142900
Donnai-Barrow Syndrome	Ventricular septal defect	OMIM:222448
Congenital Disorder Of Glycosylation, Type It	Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect	OMIM:300472
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cataract, Hypospadias, Micrognathia, Small hand, Horseshoe kidney, Fibular hypoplasia, Hypoplasia...	ORPHA:444077
Chops Syndrome	Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary venous return	OMIM:616368
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition of the gr...	ORPHA:99050
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:130720
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Fanconi Anemia, Complementation Group B	Ventricular septal defect	OMIM:300514
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Mowat-Wilson Syndrome	Urinary incontinence, Asplenia, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Mi...	ORPHA:2152
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Den Hoed-De Boer-Voisin Syndrome	Ventricular septal defect	OMIM:619229
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve	ORPHA:96201
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect	OMIM:235255
C Syndrome	Ventricular septal defect	OMIM:211750
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:277600
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Ventricular septal defect	ORPHA:79345
3Q29 Microduplication Syndrome	Ventricular septal defect	ORPHA:251038
Loeys-Dietz Syndrome 5	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:615582
Leigh Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect	ORPHA:506
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Cohen Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Micrognathia	ORPHA:1393
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pulmonic stenosis	OMIM:617506
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ventricular septal defect	OMIM:243150
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:464738
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Keratitis, ...	OMIM:308205
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613457
Alg9-Cdg	Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Right ventricular dil...	ORPHA:79328
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Pulmonic stenosis, Atrial septal ...	OMIM:602782
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic stenosis, Atri...	OMIM:100300
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale	OMIM:618748
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular ...	ORPHA:508498
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ventricular septal defect	OMIM:214100
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect	OMIM:178110
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect	OMIM:615503
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:244450
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P...	ORPHA:163956
Mgat2-Cdg	Ventricular septal defect, Abnormal heart morphology	ORPHA:79329
Duane-Radial Ray Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:607323
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:251014
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect	OMIM:611812
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:488632
Robinow Syndrome, Autosomal Dominant 3	Patent foramen ovale, Ventricular septal defect, Hypoplastic right heart	OMIM:616894
Rabson-Mendenhall Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:769
Diamond-Blackfan Anemia 10	Ventricular septal defect	OMIM:613309
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect	ORPHA:1655
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect	ORPHA:261330
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:607721
Opitz Gbbb Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:2745
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy	OMIM:309801
7Q11.23 Microduplication Syndrome	Atrial septal defect, Aortic valve stenosis, Ventricular septal defect	ORPHA:96121
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Trichothiodystrophy	Cardiomyopathy, Ventricular septal defect	ORPHA:33364
Renal Agenesis	Ventricular septal defect	ORPHA:411709
Trisomy 18	Atrial septal defect, Ventricular septal defect	ORPHA:3380
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect	OMIM:619306
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Trichohepatoneurodevelopmental Syndrome	Ventricular septal defect	OMIM:618268
Meier-Gorlin Syndrome 7	Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:617063
Trichohepatoenteric Syndrome 1	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:222470
De Barsy Syndrome	Ventricular septal defect	ORPHA:2962
Coffin-Siris Syndrome 4	Atrial septal defect, Ventricular septal defect, Mitral atresia, Pulmonic stenosis	OMIM:614609
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:444072
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Marshall-Smith Syndrome	Atrial septal defect, Ventricular septal defect, Dysplastic aortic valve	OMIM:602535
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Micrognathia, Renal cyst, Camptodactyly ...	OMIM:601803
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ...	OMIM:301043
Goldberg-Shprintzen Syndrome	Ventricular septal defect	OMIM:609460
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:192430
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Transposition of the great arteries, Subvalvular aortic stenosis, Doub...	OMIM:280000
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect	OMIM:614653
Mosaic Trisomy 16	Atrial septal defect, Ventricular septal defect, Abnormal heart morphology	ORPHA:1708
Craniofacioskeletal Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:300712
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:352665
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Su...	ORPHA:99125
Holoprosencephaly	Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary valve morphology	ORPHA:2162
Fraser Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Toe syndactyly...	ORPHA:2052
Coffin-Siris Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology	ORPHA:1465
Ulnar-Mammary Syndrome	Ventricular septal defect	ORPHA:3138
Jacobsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:147791
Phace Association	Ventricular septal defect	OMIM:606519
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm...	ORPHA:363958
3Mc Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:257920
Mycophenolate Mofetil Embryopathy	Ventricular septal defect	ORPHA:268249
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Fanconi Anemia, Complementation Group C	Ventricular septal defect	OMIM:227645
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Ebstein anomaly of the tricuspid v...	ORPHA:466791
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Tetralogy of Fallot, Ventricular septal defect	OMIM:600460
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:163979
Larsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:150250
Arboleda-Tham Syndrome	Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:616268
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect	OMIM:619575
Myhre Syndrome	Atrial septal defect, Ventricular septal defect, Pericardial effusion, Aortic valve stenosis	OMIM:139210
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect	OMIM:123700
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Atrial...	OMIM:157800
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic...	OMIM:143095
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve	OMIM:271640
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Mitral valve prolapse, Perimembranous ventricular septal defect, Hypop...	OMIM:180849
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
Alzahrani-Kuwahara Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement	OMIM:619268
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:613458
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Ventricular septal defect	OMIM:619418
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A...	ORPHA:363700
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h...	ORPHA:268261
Feingold Syndrome 1	Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis	OMIM:164280
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect	ORPHA:1199
Neu-Laxova Syndrome 1	Ventricular septal defect, Stillbirth, Transposition of the great arteries, Neonatal death, Paten...	OMIM:256520
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Secundum atrial...	OMIM:619534
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valve prolapse, Pu...	OMIM:300166
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly	ORPHA:96191
Degcags Syndrome	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Patent foramen ovale, Dysplas...	OMIM:619488
Acrofacial Dysostosis 1, Nager Type	Tetralogy of Fallot, Ventricular septal defect	OMIM:154400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventricular septal defect, Bicuspid aortic valve	OMIM:619475
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Abnormal heart morphology, Tru...	ORPHA:508488
Microphthalmia, Syndromic 3	Ventricular septal defect	OMIM:206900
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert...	OMIM:218040
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	ORPHA:3047
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:353281
Hardikar Syndrome	Atrial septal defect, Ventricular septal defect, Partial anomalous pulmonary venous return, Paten...	OMIM:301068
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Limb Body Wall Complex	Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology	ORPHA:2369
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect	OMIM:301044
Zttk Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:617140
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia	OMIM:616145
Distal 22Q11.2 Microduplication Syndrome	Ventricular septal defect, Tricuspid valve prolapse	ORPHA:261337
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Micrognathia, Limbal dermoid, Parti...	OMIM:164210
Renpenning Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis	OMIM:309500
Eisenmenger Syndrome	Ventricular septal defect, Aortopulmonary window, Abnormal heart morphology, Bacterial endocardit...	ORPHA:97214
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Dilatation of the ventricular cavity, Ventricular septal defect	ORPHA:459070
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo...	OMIM:607872
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect	ORPHA:436252
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:438213
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot	ORPHA:3472
Liver Disease, Severe Congenital	Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c...	OMIM:619991
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary window	OMIM:620025
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:353277
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Muscular ventricular septal defect, Hypoplastic left h...	OMIM:619503
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Diets-Jongmans Syndrome	Ventricular septal defect	OMIM:618846
Noonan Syndrome 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:163950
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Congenital Tracheal Stenosis	Ventricular septal defect, Hypoplastic left heart	ORPHA:141127
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Ventricular septal defect	OMIM:619525
Coffin-Siris Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:135900
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Myxomatous mitral valve ...	OMIM:194050
Wolf-Hirschhorn Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:194190
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect	ORPHA:513456
Viss Syndrome	Ventricular septal defect, Coronary sinus enlargement, Mitral valve prolapse, Right ventricular d...	OMIM:619472
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect	OMIM:616682
Keutel Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Vascular Ehlers-Danlos Syndrome	Keratoconus, Congenital hip dislocation, Hypospadias, Abnormal pupil morphology, Cystocele, Renov...	ORPHA:286
Orofaciodigital Syndrome Xiv	Atrial septal defect, Ventricular septal defect	OMIM:615948
Mowat-Wilson Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Abnormal heart morphology	OMIM:235730
Vater/Vacterl Association	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	OMIM:192350
Proboscis Lateralis	Ventricular septal defect	ORPHA:141099
Pmm2-Cdg	Pes planus, Cataract, Proteinuria, Long fingers, Nephrotic syndrome, Multiple renal cysts, Photor...	ORPHA:79318
Pallister-Hall Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	ORPHA:672
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:147920
Orofaciodigital Syndrome Type 14	Ventricular septal defect	ORPHA:434179
Digeorge Syndrome	Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:188400
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect	OMIM:620330
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Ventricular septal defect	OMIM:619522
Ulnar-Mammary Syndrome	Ventricular septal defect	OMIM:181450
Peters-Plus Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:261540
Sotos Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal heart morphology	ORPHA:821
Johanson-Blizzard Syndrome	Atrial septal defect, Dilated cardiomyopathy, Ventricular septal defect, Situs inversus totalis	OMIM:243800
Yunis-Varon Syndrome	Cardiomyopathy, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale	OMIM:216340

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 Glyr1

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 Glyr1.

No publications found that use IMPC mice or data for Glyr1.

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

MGI Allele	Allele Type	Produced
Glyr1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Glyr1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Glyr1^em1(IMPC)Tcp	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

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Gene: Glyr1 MGI:1921272

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

MicroCT E18.5

X-ray

X-ray

X-ray

Gross Pathology and Tissue Collection

X-ray

Human diseases caused by Glyr1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data