Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
phosphatidylinositol glycan anchor biosynthesis, class V
Synonyms:
D430024F16Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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.

Phenotype associated images not available

Human diseases caused by Pigv 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Supernumerary nipple, Short philtrum, Mandibular prognathia, High palate, ... ORPHA:247262
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Short philtrum, Abnormally large globe, Abnormal renal morphology, Mandibu... OMIM:239300

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Cleft upper lip,... OMIM:231060
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Right aortic ar... OMIM:613751
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Skraban-Deardorff Syndrome
Absent cupid's bow, Widely spaced teeth, Right aortic arch, Micrognathia, Cleft palate, Thick upp... OMIM:617616
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Abnormal lower lip morphology, Vesicoureteral reflux, Abnormal aortic m... ORPHA:1166
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
8P23.1 Duplication Syndrome
Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Thick vermilion border, Long philtrum, Ve... ORPHA:251076
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Pulmonic stenosis, Micrognathia, Tetralogy of Fallot, Patent ductus arteriosus, Pers... ORPHA:3304
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Congenitally corrected ... OMIM:618300
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Adrenal hypoplasia, Missing r... OMIM:220210
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... OMIM:618845
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle,... OMIM:617912
Pierre Robin Syndrome
Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Cor pulmonale OMIM:261800
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Gingival overgrowth, Abnormality of the dentition, Cryptorchidism, Pul... OMIM:179613
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Congenital malformation of the great arteries, Abnormal heart morphology, Upper l... ORPHA:294975
Microphthalmia, Syndromic 9
Multilobulated spleen, Right aortic arch with mirror image branching, Pulmonic stenosis, Renal ma... OMIM:601186
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Abnormal aortic arch morphology, Mandibular prognathia, Narrow mouth,... ORPHA:1110
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Aplasia/Hypoplasia of the thymus, M... ORPHA:1727
Diabetic Embryopathy
Ureteral duplication, Transposition of the great arteries, Renal hypoplasia/aplasia, Abnormal aor... ORPHA:1926
Mmep Syndrome
Orofacial cleft, Microphthalmia, Mandibular prognathia, Cryptorchidism, Ventricular septal defect... ORPHA:3434
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Long philtrum, Aortic aneurysm, Abnormal renal morphology, Patent foramen ... ORPHA:477817
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, High palate... ORPHA:40366
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Velocardiofacial Syndrome
Retrognathia, Right aortic arch with mirror image branching, Hypoparathyroidism, Interrupted aort... OMIM:192430
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Lethal Congenital Contracture Syndrome 10
Narrow palate, Long philtrum, High palate, Hypoplasia of the thymus, Micrognathia, Cardiomegaly, ... OMIM:617022
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Retrognathia, Decreased response to growth hormone stimulation test, Decreas... OMIM:300845
Gombo Syndrome
Delayed puberty, Microphthalmia, Abnormal heart morphology OMIM:233270
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Te... OMIM:617478
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Microphthalmia, Syndromic 12
Retrognathia, Microphthalmia, Anophthalmia, Hypoplastic left atrium, Cryptorchidism, Intestinal m... OMIM:615524
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Anomalous origin of left coronary artery from the pulmonary artery, Right aortic... ORPHA:2326
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Erythroid hyperplasia, Hematuria, Anemia, Increased mean corpuscular volume, Ventricular septal d... OMIM:617021
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Hypothyroidism, Goiter OMIM:617577
Thomas Syndrome
Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Multicystic kidney dysplasia, Hypoplasti... ORPHA:3316
Megabladder, Congenital
Atrial septal defect, Multiple glomerular cysts, Fetal megacystis, Left ventricular noncompaction... OMIM:618719
Double Outlet Right Ventricle
Hypoparathyroidism, Truncus arteriosus, Pulmonary artery atresia, Narrow mouth, Aplasia/Hypoplasi... ORPHA:3426
Meacham Syndrome
Bicuspid aortic valve, Enlarged kidney, Transposition of the great arteries, Partial anomalous pu... OMIM:608978
Truncus Arteriosus
Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposi... ORPHA:3384
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Hypospadias, Mandibular prognathia, Abnormal mitral valve morpholo... ORPHA:1919
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Cardiomegaly, Right aortic arch... OMIM:620642
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect, Abnormally large globe OMIM:603387
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Corpus cavernosum hypoplasia, Microphallus, Cryptorchidism, Te... OMIM:615542
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Renal hypoplasia/aplasia, Micr... ORPHA:3186
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Renal hypoplasia/aplasia, Truncus arteriosus, Abnormal aortic morphology, Re... ORPHA:2516
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Bicuspid aorti... OMIM:604381
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring, Cleft palate, Accessory oral frenulum OMIM:616954
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Renal hypoplasia, Hydronephrosis, Hypogonadism, Patent duc... OMIM:615996
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Long philtrum, High, narrow palate, Microphthalmia, Unilateral renal agenesis, Patent foramen ova... OMIM:618494
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short 5th metacarpal, Patent ductus arteri... ORPHA:228190
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Fryns Syndrome
Microphthalmia, Abnormal aortic arch morphology, Intestinal malrotation, Wide mouth, Long philtru... ORPHA:2059
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Renal insufficiency, Cardiomyopat... ORPHA:1909
Tetrasomy 15Q26
Hypoplastic aortic arch, High palate, Hydronephrosis, Microretrognathia, Patent ductus arteriosus... OMIM:614846
Diamond-Blackfan Anemia 6
Retrognathia, Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Pers... OMIM:612561
Cat Eye Syndrome
Microphthalmia, Meckel diverticulum, Pulmonic stenosis, Intestinal malrotation, Absent radius, Tr... OMIM:115470
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal ventriculoarterial connection, Maternal diabetes, Abnormal ao... ORPHA:860
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Tetraploidy
Renal hypoplasia/aplasia, Short philtrum, Aplasia/Hypoplasia affecting the eye, Micrognathia, Cle... ORPHA:3305
2p15-16.1 microdeletion syndrome
Hydronephrosis, Optic disc hypoplasia DECIPHER:70
14Q11.2 Microdeletion Syndrome
Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Micrognathia, Pa... ORPHA:261120
RCAD (renal cysts and diabetes)
Diabetes mellitus, Multiple renal cysts DECIPHER:47
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Partial anomalous pulmonary venous return, Solitary median maxillary centra... OMIM:619657
Nemaline Myopathy 9
Micrognathia, Ventricular septal defect, High palate, Cleft palate OMIM:615731
Maternal Phenylketonuria
Long philtrum, Esophageal atresia, Abnormal renal morphology, High palate, Coarctation of aorta, ... ORPHA:2209
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula, Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Verheij Syndrome
Retrognathia, Optic nerve hypoplasia, Truncus arteriosus, Renal cyst, Renal agenesis, Renal hypop... OMIM:615583
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the ... ORPHA:2547
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Absence of the sacrum, Right atr... OMIM:270100
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Truncus arteriosus, Cleft palate, Short distal phalanx of finger, Vent... OMIM:601355
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Right aortic arch, Vesicoureter... OMIM:301111
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long philtrum, Parachute mitral valve, Hypospadias, Short philtrum, Patent foramen ovale, Exagger... OMIM:618316
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Abnormal palate morphology, Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Ana... ORPHA:1381
Trisomy 13
High, narrow palate, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormality of... ORPHA:3378
Aortic Valve Disease 1
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Mitral stenosis, Tetral... OMIM:109730
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hypospadias, Histiocytoid cardiomyopathy, Anal atresia, Chordee, Cleft palate, Co... OMIM:309801
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Charge Syndrome
Delayed puberty, Microphthalmia, Absent tibia, Tracheoesophageal fistula, Pulmonic stenosis, Dysp... OMIM:214800
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Posteriorly placed anus, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly,... OMIM:306955
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Hydronephrosis, Abnormality of the ureter ORPHA:1450
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Cleft upper lip, Cleft palate, Hypoplastic left heart OMIM:236110
Bardet-Biedl Syndrome 10
Hypogonadism, Renal insufficiency, Renal cyst OMIM:615987
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Aganglionic megacolon, Patent ductus arteriosus, Glandular hypospadias,... ORPHA:2473
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Transient isc... ORPHA:1330
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Solitary median maxillary central incisor, High palate, Finger aplasia,... OMIM:602418
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Truncus arteriosus, Pulmonary artery atresia, Cryptorchidism, Intestinal malrotat... ORPHA:401935
Temtamy Syndrome
Abnormal palate morphology, Microphthalmia, Thick lower lip vermilion, Aortic aneurysm, Micrognat... ORPHA:1777
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Prune Belly Syndrome
Hydroureter, Intestinal atresia, Renal insufficiency, Abnormality of the bladder, Recurrent urina... ORPHA:2970
Fliedner-Zweier Syndrome
Long philtrum, Unilateral renal agenesis, Hypoplastic aortic arch, High palate, Tracheoesophageal... OMIM:620511
Catel-Manzke Syndrome
Dextrocardia, Glossoptosis, Short metacarpal, High palate, Narrow mouth, Cryptorchidism, Cleft up... OMIM:616145
Igg4-Related Aortitis
Intestinal obstruction, Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubu... ORPHA:449400
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Aganglionic megacolon, ... ORPHA:210122
Joubert Syndrome 18
Retrognathia, Renal cyst, Cleft palate, Lobulated tongue, Ventricular septal defect, Horseshoe ki... OMIM:614815
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal insufficiency, Renal cyst, Pulmonic stenosis, Renal hypo... OMIM:610205
Apert Syndrome
Narrow palate, Esophageal atresia, Delayed eruption of teeth, Mandibular prognathia, Ectopic anus... OMIM:101200
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Micrognathia, Cleft palate, Malar flattening, Atrial septal defect, ... ORPHA:1388
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Renal cyst, Anal atresia, Cryptorchidism, Hydronephrosis, Abnormal hear... OMIM:613390
Trisomy 17P
Orofacial cleft, Patent ductus arteriosus, Hypoplasia of penis, Polycystic kidney dysplasia, High... ORPHA:261290
Hadziselimovic Syndrome
Thick lower lip vermilion, Ventricular hypertrophy, Pulmonary artery atresia, High palate, Anal a... OMIM:612946
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Amelia, Glossoptosis, Absent nipple, Ankyloglossia, Micrognathia, Cl... OMIM:618021
Fetal Trimethadione Syndrome
Transposition of the great arteries, Hypospadias, High palate, Micrognathia, Tetralogy of Fallot,... ORPHA:1913
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Cleft palate, Microphthalmia OMIM:616570
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Increased size of the mandible, Congenital shortened small intesti... OMIM:300048
Meckel Syndrome, Type 8
Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Pericardial effusion,... OMIM:613885
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Dilatation of the cerebral artery OMIM:174050
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Retrognathia, Hypospadias, Duplicated collecting system, Hypodontia, Optic nerve hypoplasia, Vesi... OMIM:301056
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic... ORPHA:1457
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Microphthalmia, Narrow mouth, High palate, Hypogonadism ORPHA:2528
Distal Triplication 15Q
Abnormality of the kidney, Retrognathia, Hypoplastic aortic arch, Polycystic kidney dysplasia, Hi... ORPHA:314588
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ectopic kidney, Cryptorchidism, Ventricular septal defect, Cystic renal dysplasia OMIM:613730
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn... OMIM:616730
Tetralogy Of Fallot
Thin vermilion border, Cryptorchidism, Tetralogy of Fallot ORPHA:3303
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Dextr... OMIM:605376
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,... OMIM:212093
3C Syndrome
Hypoplasia of penis, Pulmonic stenosis, Abnormal mitral valve morphology, Aortic valve stenosis, ... ORPHA:7
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Abnormality of the philtrum, Abnormality of the dentition, Tetralogy of Fallot, Micr... ORPHA:276422
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Treacher-Collins Syndrome
Retrognathia, Microphthalmia, Hypoplasia of penis, Glossoptosis, Thyroid hypoplasia, Tracheoesoph... ORPHA:861
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Short philtrum,... OMIM:609757
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Short philtrum, Micrognathia, Atrial septal defect, Ventricular septal... OMIM:608227
Short Stature-Wormian Bones-Dextrocardia Syndrome
Renal hypoplasia/aplasia, Dextrocardia, Anterior hypopituitarism, Delayed eruption of teeth, Broa... ORPHA:2863
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Anemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disea... OMIM:617056
6P22 Microdeletion Syndrome
Abnormal palate morphology, Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Feingold Syndrome Type 1
Abnormal heart morphology, Abnormality of the kidney, Tricuspid atresia, Multiple muscular ventri... ORPHA:391641
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hydronephrosis, Patent... OMIM:619797
Mesoaxial Hexadactyly And Cardiac Malformation
Everted lower lip vermilion, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, V... OMIM:249670
Digeorge Syndrome
Right aortic arch with mirror image branching, Recurrent sinusitis, Bifid uvula, Ovarian cyst, Sp... OMIM:188400
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... OMIM:314390
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, Renal ... OMIM:615993
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Intestinal malrotation, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart... ORPHA:353281
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Secundum... OMIM:612541
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Upper limb undergrowth, Tetralogy of Fallot, ... OMIM:613630
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hypertrophic cardiomyopathy, Hyperechoge... OMIM:619902
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Trisomy 1Q
Congenital megaureter, Anophthalmia, Narrow mouth, Anal atresia, Cryptorchidism, Hydronephrosis, ... ORPHA:261344
Suleiman-El-Hattab Syndrome
Thick lower lip vermilion, Patent foramen ovale, High palate, Cryptorchidism, Downturned corners ... OMIM:618950
Yuan-Harel-Lupski Syndrome
Long philtrum, Aortic root aneurysm, High palate, Smooth philtrum, Bicuspid aortic valve, Ventric... OMIM:616652
Rubinstein-Taybi Syndrome 1
Retrognathia, Dental crowding, Premature thelarche, Mitral valve prolapse, Narrow palate, Perimem... OMIM:180849
Hypoplastic Left Heart Syndrome
Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atr... ORPHA:2248
Fetal Minoxidil Syndrome
Micrognathia, Ventricular septal defect, Cryptorchidism ORPHA:1918
Distal Deletion 15Q
Abnormal aortic arch morphology, Double outlet right ventricle with doubly committed ventricular ... ORPHA:1596
Cat-Eye Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Anal atresia, Hydronephrosis, Abnormal localization of ... ORPHA:195
Isolated Dandy-Walker Malformation
Cleft palate, Tetralogy of Fallot ORPHA:217
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se... OMIM:620570
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Cleft palate, Malar flattening, Smooth philtrum, Thin upper lip vermilion OMIM:611867
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Mandibular prognathia, Ectopic anus, Aplasia/Hypoplasia of the distal phalanges o... ORPHA:94066
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Microphthalmia, Cleft palate, Hematuria OMIM:120433
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydronephrosis, Hydroureter OMIM:264140
Kleefstra Syndrome
Hypoplasia of penis, Everted lower lip vermilion, Bicuspid aortic valve, Advanced eruption of tee... ORPHA:261494
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Duodenal atresia, Optic nerve hypoplasia, Patent foram... OMIM:301043
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Patent foramen ovale, Bilateral cryptorchidism, Downturned corners of mouth, Smoo... OMIM:618652
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve ... ORPHA:1354
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Esophageal atresia, Right aortic arch, Ventricular sep... ORPHA:95430
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Carious teeth, Micrognathia, Velop... OMIM:613680
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Coarctation of aorta, Cleft palate, Leukopenia, Splenomegaly,... OMIM:620210
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Autosomal Recessive Amelia
Orofacial cleft, Hypoplasia of penis, Non-midline cleft of the upper lip, Amelia involving the up... ORPHA:1027
Xk Aprosencephaly Syndrome
Microphthalmia, Narrow mouth, Anal atresia, Atrial septal defect, Ventricular septal defect ORPHA:3469
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Ab... ORPHA:2306
Li-Campeau Syndrome
Patellar hypoplasia, Patent foramen ovale, Cryptorchidism, Hypothyroidism, Patent ductus arterios... OMIM:619189
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Intestinal malrotation, Downturned corners of mouth, Hydronephrosis, Cleft palate... ORPHA:457193
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... ORPHA:244
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Microphthalmia, Syndromic 8
Orofacial cleft, Microphthalmia, Mandibular prognathia, Cleft upper lip, Cleft palate, Cryptorchi... OMIM:601349
Nanophthalmos 2
Microphthalmia OMIM:609549
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Long philtrum, Thick lower lip vermilion, Gingival overgrowth, High palate, Everted lower lip ver... OMIM:220500
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Retrognathia, Unilateral renal agenesis, High palate, Micrognathia, Crossed... OMIM:618142
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Anteriorly placed anus, Everted lower lip vermilion, Enamel hypopla... OMIM:619980
Craniofacioskeletal Syndrome
Hypospadias, Short philtrum, Interrupted aortic arch, Hypoplastic frontal sinuses, Cryptorchidism... OMIM:300712
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Alveolar ridge overgrowth, ... OMIM:235255
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Ventricular hypertrophy, Tetralogy of Fallot, Long philtrum, Atrial septal defect OMIM:300887
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Hypoplasia of the thymus, Micrognathia, Cleft palate, Abnormal heart... OMIM:214110
Williams Syndrome
Abnormal carotid artery morphology, Hypoplasia of penis, Everted lower lip vermilion, Tracheoesop... ORPHA:904
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Meckel diverticulum, Dilatation of the bladder, Tracheoesophageal fistula, Intestin... OMIM:265380
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst, Dilatation of the cerebral artery, Lacunar stroke, Re... OMIM:611773
Frontonasal Dysplasia 1
Microphthalmia, Median cleft palate, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Tetr... OMIM:136760
Mosaic Trisomy 9
Tessier cleft, Microphthalmia, Dextrocardia, Hypoplasia of penis, Abnormal heart valve morphology... ORPHA:99776
Say Syndrome
Micrognathia, Cleft palate, Proximal renal tubular acidosis, Short distal phalanx of finger, Cyst... OMIM:181180
Congenital Myopathy 19
High palate, Micrognathia, Hydronephrosis, Cryptorchidism, Renal atrophy OMIM:618578
Intellectual Developmental Disorder, Autosomal Recessive 73
Widely spaced teeth, Thick upper lip vermilion, Patent ductus arteriosus, Ventricular septal defe... OMIM:619717
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Meckel Syndrome, Type 4
Microphthalmia, Renal cyst, Bile duct proliferation, Cleft palate, Atrial septal defect, Ventricu... OMIM:611134
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormally large globe, Abnormal renal morphology, Pancreatic lymphan... ORPHA:1655
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Hypogonadism, Cryptorchidism OMIM:615982
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Abnormal palate morphology, Multicystic kidney dysplasia, Abnormality of the denti... ORPHA:3270
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Pr... OMIM:614886
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Microphthalmia OMIM:600251
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
3P25.3 Microdeletion Syndrome
High, narrow palate, Microphthalmia, Acromesomelia, Coronary artery atherosclerosis, Short philtr... ORPHA:435638
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricular connection,... ORPHA:216694
Kapur-Toriello Syndrome
Orofacial cleft, Microphthalmia, Hypoplasia of penis, Intestinal malrotation, Tetralogy of Fallot... ORPHA:2328
Pseudotrisomy 13 Syndrome
Microphthalmia, Tricuspid atresia, Dextrocardia, 11 pairs of ribs, Adrenal hypoplasia, Anal atres... OMIM:264480
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Hydronephrosis, Ventricular septal defect, Micrognathia OMIM:607598
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Microphthalmia, Solitary median maxillary central incisor, Delayed er... ORPHA:2712
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Craniofacial Microsomia 1
Microphthalmia, Ectopic kidney, Wide mouth, Maxillozygomatic hypoplasia, Cleft palate, Malar flat... OMIM:164210
Carpenter Syndrome 1
Transposition of the great arteries, Hydroureter, High palate, Persistence of primary teeth, Pulm... OMIM:201000
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Colonic diverticula, Mitral valve prolapse, Cerebral berry aneurysm,... OMIM:173900
Adams-Oliver Syndrome 6
Esophageal varix, Truncus arteriosus, Renal hypoplasia, Foot oligodactyly, Splenomegaly, Ventricu... OMIM:616589
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Burn-Mckeown Syndrome
Thin vermilion border, Unilateral renal agenesis, Short philtrum, Mandibular prognathia, Narrow m... OMIM:608572
Pierpont Syndrome
Short finger, Thin vermilion border, Widely spaced teeth, Microphthalmia, Long upper lip, Promine... OMIM:602342
Syndromic Diarrhea
Villous atrophy, Gastritis, Thrombocytosis, Polycystic kidney dysplasia, Lymphopenia, Hypoplasia ... ORPHA:84064
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Ectopic kidney, Narrow palate, Oligodontia, Cryptorchidism, Short palm, Malar flatt... OMIM:235510
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal subclavian artery morphology, Dental crowding, Pulmonic stenosis, Aortic valve stenosis,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal subclavian artery morphology, Dental crowding, Pulmonic stenosis, Aortic valve stenosis,... ORPHA:353277
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Cutis Laxa, Autosomal Recessive, Type Ic
Retrognathia, Rectal prolapse, Multiple bladder diverticula, Vascular dilatation, Accessory splee... OMIM:613177
Prune Belly Syndrome
Hydroureter, Anal atresia, Hydronephrosis, Congenital posterior urethral valve, Patent ductus art... OMIM:100100
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Incisor macrodontia, Narrow mouth, Coarctation of aorta, Cleft palate, Pat... OMIM:615502
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immune complex dep... OMIM:613496
8P Inverted Duplication/Deletion Syndrome
Retrognathia, High, narrow palate, Dextrocardia, Everted lower lip vermilion, Precocious puberty,... ORPHA:96092
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Premature thelarche, Coarctation of aorta, Nodular goiter, Type I diabetes... ORPHA:371428
Methimazole Embryofetopathy
Hypospadias, Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Hypothyro... ORPHA:1923
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:616622
Absence Of The Pulmonary Artery
Right aortic arch, Truncus arteriosus, Abnormal inferior vena cava morphology, Patent foramen ova... ORPHA:980
Orofaciodigital Syndrome Xvii
Retrognathia, High, narrow palate, Renal hypoplasia, Tetralogy of Fallot, Short middle phalanx of... OMIM:617926
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, 11 pairs of ribs, Tetralogy of Fallot, Thr... OMIM:618624
Zaki Syndrome
Short philtrum, Patent foramen ovale, High palate, Hypoplasia of the phalanges of the toes, Renal... OMIM:619648
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Conotruncal defect, Cleft palate OMIM:243440
22Q11.2 Deletion Syndrome
Microphthalmia, Abnormal aortic arch morphology, Intestinal malrotation, Multiple renal cysts, Sp... ORPHA:567
Congenital Rubella Syndrome
Microphthalmia, Anemia, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Thrombocytopeni... ORPHA:290
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Cryptorchidism, Hydronephrosis, Atrial sep... OMIM:613001
Pallister-Hall Syndrome
Microphthalmia, Ectopic kidney, Shortening of all distal phalanges of the fingers, Mesomelia, Dec... OMIM:146510
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Short philtrum, Everted lower lip vermilion, Cleft palate, Tented upper lip... OMIM:616898
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Gaucher Disease, Type Ii
Anemia, Double aortic arch, Thrombocytopenia, Splenomegaly, Trismus OMIM:230900
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Autoimmune hemolytic anemia, Impaired lymphocyte transform... OMIM:243150
Stankiewicz-Isidor Syndrome
Retrognathia, Ureteral duplication, Hypospadias, Truncus arteriosus, Cryptorchidism, Micrognathia... OMIM:617516
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Feingold Syndrome Type 2
Short middle phalanx of finger, Ventricular septal defect, Short thumb, Jejunal atresia ORPHA:391646
Tarp Syndrome
Hypoplasia of the radius, Meckel diverticulum, Subdural hemorrhage, Glossoptosis, High palate, Sh... OMIM:311900
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Mosaic Trisomy 1
Orofacial cleft, Microphthalmia, Thick lower lip vermilion, Renal cortical cysts, Pulmonary arter... ORPHA:1692
Feingold Syndrome 2
Intestinal atresia, Short middle phalanx of the 5th finger, Short thumb, Short middle phalanx of ... OMIM:614326
Robinow Syndrome
Mesomelic arm shortening, Broad alveolar ridges, Dental crowding, Pulmonic stenosis, Abnormal hea... ORPHA:97360
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Image Syndrome
Hypospadias, Adrenal hypoplasia, Micromelia, Hydronephrosis, Hypogonadism, Cryptorchidism ORPHA:85173
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Oligodontia, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defe... OMIM:618330
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Microphthalmia, Hypospadias, Short philtrum, High palate, Everted lower lip vermili... OMIM:616449
Acrorenal Syndrome
Renal hypoplasia/aplasia, Abnormal renal morphology, Micrognathia, Cleft palate, Aplasia/Hypoplas... ORPHA:971
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, 11 pairs of ribs, Hypospadias, Hypoplasia of penis, Esophageal atresia, Anophthal... ORPHA:77298
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn... OMIM:618348
Phace Association
Microphthalmia, Vascular dilatation, Aortic aneurysm, Optic nerve hypoplasia, Congenital hypothyr... OMIM:606519
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia, Short philtrum, Downturned corners of mouth, Micrognathia, Ventricula... ORPHA:93267
Grange Syndrome
Short palm, Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Pentalogy Of Cantrell
Orofacial cleft, Hypospadias, Non-midline cleft of the upper lip, Renal agenesis, Abnormal perica... ORPHA:1335
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Narrow palate, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Abnorma... OMIM:618223
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bilateral cleft palate, Abnormal aortic morphology, Intestinal malrotation, Micrognathia, Bifid t... ORPHA:2001
Chime Syndrome
Acute leukemia, Abnormality of the kidney, Pulmonary valve atresia, Transposition of the great ar... ORPHA:3474
Baraitser-Winter Syndrome 1
Retrognathia, Long philtrum, Orofacial cleft, Microphthalmia, Aortic valve stenosis, Cleft upper ... OMIM:243310
Joubert Syndrome 14
Microphthalmia, Short philtrum, Renal cyst, Cleft palate, Malar flattening, Intracranial hemorrha... OMIM:614424
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Anemia, Abnormal aortic morphology, Intestinal atresia, Vent... ORPHA:3405
Pierpont Syndrome
Short finger, Thin vermilion border, Widely spaced teeth, Microphthalmia, Long upper lip, Everted... ORPHA:487825
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Absent cupid's bow, Widely spaced teeth, Right aortic arch, Increase... ORPHA:513456
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Short ribs, Hypertrophic cardiomyopathy, Micrognathia, Hydronephrosis, Limb undergro... OMIM:616897
Monosomy 18Q
Short philtrum, Pulmonary valve defects, Aortic aneurysm, Dysplastic pulmonary valve, Mandibular ... ORPHA:1600
Transketolase Deficiency
Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal coronary artery co... ORPHA:488618
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Smooth philtrum, Nephroblastoma, Ventricular septal defect, Leukemia OMIM:602501
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Hypoplasia of penis, Ventricular sep... ORPHA:3097
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Decreased serum insulin-like growth factor 1, Coarctation of aorta, Hydronephros... OMIM:614921
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Orofacial cleft, Microphthalmia, Anophthalmia OMIM:611638
Down Syndrome
Aganglionic megacolon, Patent foramen ovale, Pulmonary artery stenosis, Short palm, Malar flatten... OMIM:190685
Microphthalmia, Syndromic 2
Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve prolapse, Lon... OMIM:300166
1Q21.1 Microdeletion Syndrome
Microphthalmia, Interrupted aortic arch, Vesicoureteral reflux, High palate, Ankyloglossia, Hydro... ORPHA:250989
X-Linked Intellectual Disability, Nascimento Type
Thin vermilion border, Hypospadias, Abnormal vena cava morphology, Vesicoureteral reflux, Patent ... ORPHA:163956
Distal Duplication 6P
Thin vermilion border, Narrow mouth, Aplasia/Hypoplasia affecting the eye, Renal hypoplasia, Micr... ORPHA:1745
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Left superior vena cava draining to coronary sinus, High, narrow palate, Microphtha... ORPHA:464738
Cerebrocostomandibular Syndrome
Ectopic kidney, Glossoptosis, Short humerus, Long philtrum, 10 pairs of ribs, Carious teeth, Clef... OMIM:117650
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Abnormally large globe, Increased overbite, Cryptorchidism, Ventricula... OMIM:618504
Thakker-Donnai Syndrome
Transposition of the great arteries, Rectovaginal fistula, Narrow mouth, Tracheoesophageal fistul... ORPHA:1780
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Braddock-Carey Syndrome 2
Retrognathia, Microphthalmia, Pierre-Robin sequence, Wide mouth, Cleft palate, Thrombocytopenia OMIM:619981
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Mesomelia, Wide mouth, Long philtrum, Short distal phalanx of finger, Abnorm... ORPHA:1507
Meckel Syndrome, Type 5
Microphthalmia, Renal cyst, Bile duct proliferation, Cleft upper lip, Cleft palate OMIM:611561
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Amelia, Tracheoesophageal fistula, Intestinal malrotati... ORPHA:2538
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Everted lower lip vermilion, Wide mouth, Transposition of the great arteries, Short philtrum, Pul... OMIM:280000
Duane-Radial Ray Syndrome
Microphthalmia, Short humerus, Absent thumb, Absent radius, Renal malrotation, Hypoplasia of the ... OMIM:607323
8Q12 Microduplication Syndrome
Vesicoureteral reflux, Narrow mouth, Everted lower lip vermilion, Long philtrum, Atrial septal de... ORPHA:228399
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Microphthalmia, Decreased response to growth hormone stimulation test, ... OMIM:609053
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Long philtrum, Thin vermilion border, Ureteral duplication, Anal stenosis, Vesicoureteral reflux,... OMIM:614080
15Q11.2 Microdeletion Syndrome
Abnormal palate morphology, Total anomalous pulmonary venous return, Coarctation of aorta, Abnorm... ORPHA:261183
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Fibular hypoplasia, Microphthalmia, Rhizomelia, Short ribs, Renal cyst, Anal atresia, Cryptorchid... OMIM:616300
Femoral-Facial Syndrome
Orofacial cleft, Renal hypoplasia/aplasia, Maternal diabetes, Long penis, Polycystic kidney dyspl... ORPHA:1988
Seckel Syndrome 2
Microphthalmia, Ectopic kidney, Hypospadias, Microdontia, Micrognathia, Microglossia OMIM:606744
Frank-Ter Haar Syndrome
Dental malocclusion, Abnormally large globe, Broad alveolar ridges, Patent foramen ovale, Gingiva... OMIM:249420
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Esophageal atresia, Cleft soft palate, Micrognathia, Smooth philtrum, Atrial sept... OMIM:614526
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Opitz Gbbb Syndrome
Tracheoesophageal fistula, Abnormal heart morphology, Long philtrum, Hypospadias, Patent foramen ... ORPHA:2745
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, ... OMIM:301108
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short philtrum, Patent foramen ovale, Vesicoureteral reflux, Renal cyst, Microphallus, Cryptorchi... OMIM:618454
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Microphthalmia, Delayed eruption of teeth, Periodont... ORPHA:2791
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Lymphocytosis, Central hypo... ORPHA:1667
German Syndrome
Orofacial cleft, High palate, Everted lower lip vermilion, Micrognathia, Tetralogy of Fallot, Ope... ORPHA:2077
Temtamy Syndrome
Microphthalmia, Aortic aneurysm, Dental crowding, Short 2nd toe, Hypoplasia of teeth, Micrognathi... OMIM:218340
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Microphthalmia, Ectopic kidney, Tracheoesophageal fistula, Short ... ORPHA:268249
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm,... OMIM:132900
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Truncus arteriosus, Hypertrophic cardiomyopathy, Aspleni... OMIM:615415
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Short 2nd finger, Cleft upper lip, Coarctation of aorta... OMIM:600987
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth, Abnormal localizatio... ORPHA:83473
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Ureteral duplication, Hypospadias, Hypodontia, Abnormal denta... ORPHA:96169
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Open bite, High palate, Abnormal dental morphology, Hydronephrosis, Dental... ORPHA:3079
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism, Abnormal oral frenulum morphology, Intestinal malrotation, Microg... ORPHA:404440
Kapur-Toriello Syndrome
Microphthalmia, Cryptorchidism, Intestinal malrotation, Cleft upper lip, Cleft palate, Short thum... OMIM:244300
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Perimembranous ventricular septal defect, Muscular ventricular septal ... ORPHA:363444
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Hydroureter, Hypercalciuria, Restrictive cardiomyopathy, High palate, Abn... OMIM:615398
Recombinant 8 Syndrome
Abnormality of the kidney, Gingival overgrowth, Abnormality of the anus, Abnormality of the denti... ORPHA:96167
Genitopalatocardiac Syndrome
Hypospadias, Non-midline cleft of the upper lip, Micrognathia, Cleft palate, Downturned corners o... ORPHA:2075
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Retrognathia, Vesicoureteral reflux, Micrognathia, Hydronephrosis, Cleft palate OMIM:618265
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Abnormal vena cava morphology, Short metacarpal, Renal cyst,... ORPHA:166035
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Orofacial cleft, Atrioventricular canal defect, Renal hypoplasia/aplasia, ... ORPHA:2549
Gabriele-De Vries Syndrome
Thick lower lip vermilion, Patent foramen ovale, High palate, Abnormality of the dentition, Micro... OMIM:617557
Stevenson-Carey Syndrome
Atrial septal defect, Microphthalmia, Recurrent urinary tract infections, Narrow mouth, Downturne... OMIM:611961
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Short philtrum, High palate, Cryptorchidism, Precocious puberty, Tetra... ORPHA:3306
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft of the upper lip, Ectopic anus, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Viss Syndrome
Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cer... OMIM:619472
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Neurogenic bladder, Megaloblastic anemia, Cardiomyopathy, Hypoth... OMIM:222300
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Marden-Walker Syndrome
Retrognathia, Renal hypoplasia/aplasia, Bifid uvula, Abnormality of the kidney, Hypospadias, Clef... ORPHA:2461
Nabais Sa-De Vries Syndrome, Type 2
Thin vermilion border, Bilateral cleft palate, High palate, Hypothyroidism, Micrognathia, Multicy... OMIM:618829
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts, Dilatation of the cerebral artery OMIM:600666
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Cryptorchidism, Cleft upper lip, Coarctation of aorta, Cleft palate, Tetralogy of Fa... OMIM:600460
Fraser Syndrome 2
Microphthalmia, Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Narr... OMIM:617666
2Q24 Microdeletion Syndrome
Abnormal oral frenulum morphology, Microphthalmia, Cleft palate, Short philtrum ORPHA:1617
Kury-Isidor Syndrome
Widely spaced teeth, Triangular mouth, High palate, Hydronephrosis, Tented upper lip vermilion, L... OMIM:619762
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Emanuel Syndrome
Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Intestinal malrotation, Recurrent sinu... OMIM:609029
Chondrodysplasia, Blomstrand Type
Short ribs, Micromelia, Preductal coarctation of the aorta, Micrognathia, Malar flattening OMIM:215045
Cofs Syndrome
Micrognathia, Microphthalmia, Everted lower lip vermilion, Hypogonadism ORPHA:1466
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Short uvula, Polycystic kidney dysplasia, Short lingual frenulum, Short ribs, High p... OMIM:614091
Kabuki Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Microdontia, Short 5th finger, Lip pit, Abnormal c... ORPHA:2322
Bor Syndrome
Retrognathia, Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic... ORPHA:107
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Esophagitis, Secundu... OMIM:612562
Orofaciodigital Syndrome Xv
Midline notch of upper alveolar ridge, Hydronephrosis, Lobulated tongue OMIM:617127
Teebi-Shaltout Syndrome
High, narrow palate, Microphthalmia, Oligodontia, Narrow mouth, Ureteral stenosis, Aortic valve s... OMIM:272950
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, High palate, Vesicoureteral reflux ORPHA:85285
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Gingival overgrowth, Abnormal intestine morphology, Renal cyst, Abnorma... ORPHA:1834
Congenital Disorder Of Glycosylation, Type Iig
Glossoptosis, Left ventricular hypertrophy, Long philtrum, Hemolytic-uremic syndrome, Hypospadias... OMIM:611209
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Vesicoureteral reflux, Cryptorchidism, Coarctation of aorta, Bifid uvula, Tetral... OMIM:617159
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, 11 pairs of ribs, ... OMIM:617877
Giant Cell Arteritis
Hematuria, Mediastinal lymphadenopathy, Diabetes insipidus, Glossitis, Vasculitis, Double outlet ... ORPHA:397
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Multiple bladder diverticula, Widely spaced teeth, Microdontia, Hypoplasia of tee... ORPHA:2728
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Anemia, Triangular mouth, Patent foramen ovale, Vesicoureteral reflux, Bila... OMIM:618460
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... OMIM:614954
Toluene Embryopathy
Thin vermilion border, Micrognathia, Hydronephrosis, Smooth philtrum, Abnormal localization of ki... ORPHA:1920
Mesomelia-Synostoses Syndrome
High, narrow palate, Aplasia/Hypoplasia of the uvula, Narrow mouth, Micromelia, Abnormal oral fre... ORPHA:2496
Diaphanospondylodysostosis
Cleft palate, Multiple renal cysts, Missing ribs ORPHA:66637
Trisomy X
Renal hypoplasia/aplasia, Precocious puberty, Atrial septal defect, Ventricular septal defect, Mu... ORPHA:3375
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Glossoptosis OMIM:614876
Orofaciodigital Syndrome V
Aganglionic megacolon, Hamartoma of tongue, High palate, Ankyloglossia, Unilateral cryptorchidism... OMIM:174300
Koolen-De Vries Syndrome
Narrow palate, Widely spaced teeth, Aortic root aneurysm, Recurrent urinary tract infections, Ves... OMIM:610443
8P23.1 Microdeletion Syndrome
Thin vermilion border, Transposition of the great arteries, Atrioventricular canal defect, Hyposp... ORPHA:251071
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Fibular aplasia, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of... ORPHA:3320
Heart And Brain Malformation Syndrome
High, narrow palate, Thick lower lip vermilion, Microphthalmia, Interrupted aortic arch, Everted ... OMIM:616920
Tarp Syndrome
Extramedullary hematopoiesis, Glossoptosis, Cryptorchidism, Short sternum, Micrognathia, Hydronep... ORPHA:2886
Johanson-Blizzard Syndrome
Anemia, Dextrocardia, Hypospadias, Hypoplasia of penis, Delayed eruption of teeth, Oligodontia, A... ORPHA:2315
Vacterl/Vater Association
Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal cardiac septum morphology, Non-midline... ORPHA:887
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Aplasia of the proximal phalanges of the hand, Crypt... ORPHA:2256
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Pyloric stenosis, Malar flattening, Patent ductus arteriosus, Ventri... OMIM:218350
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Ectopic kidney, Narrow mouth, Cleft upper lip, Micrognathia, Cleft palate, Abnorma... OMIM:239800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abnormal bladder morphology, Ves... ORPHA:453499
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the patella, Vesicoureteral reflux, High p... ORPHA:1225
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Atrial septal defect, Ventricular septal defect, Renal cyst OMIM:263630
Fanconi Anemia, Complementation Group F
Hypoplasia of the radius, Microphthalmia, Decreased response to growth hormone stimulation test, ... OMIM:603467
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Patent ductus arteriosus, Aglossia, At... OMIM:241310
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Aplasia/Hypoplasia of the thumb, Non-midline cleft of the upper lip, Mand... ORPHA:1908
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Coach Syndrome 1
Nephronophthisis, Vascular dilatation, Unilateral renal agenesis, Esophageal varix, Renal cyst, W... OMIM:216360
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Microphthalmia With Limb Anomalies
Retrognathia, Fibular hypoplasia, Microphthalmia, Anophthalmia, High palate, Finger aplasia, Unil... OMIM:206920
Fanconi Anemia, Complementation Group B
Aplastic anemia, Esophageal atresia, Optic disc hypoplasia, Tracheoesophageal fistula, Hypergonad... OMIM:300514
Fanconi Anemia, Complementation Group N
Aplastic anemia, Hypoplasia of the radius, Microphthalmia, Unilateral renal agenesis, Ectopic kid... OMIM:610832
Lymphedema-Distichiasis Syndrome
Microphthalmia, Cleft upper lip, Micrognathia, Cleft palate, Tetralogy of Fallot, Patent ductus a... OMIM:153400
Noonan Syndrome 9
Hydroureter, Cryptorchidism, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect OMIM:616559
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, High palate, Hypertrophic cardiomyopathy, Renal hypoplasia, Ketonuria OMIM:619053
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Hypoplasia of the maxilla, Renal hypoplasia, Cleft palate, Microretrog... OMIM:246560
Hydrolethalus
Retrognathia, Gingival cleft, Microphthalmia, Anophthalmia, Micromelia, Micrognathia, Bifid uvula... ORPHA:2189
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, Microphthalmia, Patent foramen ovale, Mandibular prognathia, Pulmonic stenosis, Ren... OMIM:618914
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Hypoglossia With Situs Inversus
Situs inversus totalis, Narrow mouth, High palate, Asplenia, Micrognathia, Microglossia, Hypodont... OMIM:612776
Fetal Alcohol Syndrome
Microphthalmia, Non-midline cleft of the upper lip, Microdontia, Micrognathia, Cleft palate, Smoo... ORPHA:1915
Melnick-Needles Syndrome
Craniofacial hyperostosis, Delayed eruption of teeth, Tooth malposition, Short clavicles, Vesicou... ORPHA:2484
Noonan Syndrome 4
Ureteral duplication, Dental malocclusion, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic ... OMIM:610733
Takenouchi-Kosaki Syndrome
Widely spaced teeth, Unilateral renal agenesis, Hypospadias, Short philtrum, Pulmonic stenosis, I... OMIM:616737
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm, Cryptorchidism, Micrognathia, Ureteropelvic junction obstructio... ORPHA:444072
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Membranous subvalvular aortic stenosis, Microdontia, Micrognathia, Type II diabet... ORPHA:3191
Fryns Microphthalmia Syndrome
Tessier cleft, Microphthalmia, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip OMIM:600776
Marden-Walker Syndrome
High, narrow palate, Microphthalmia, Dextrocardia, Hypospadias, High palate, Narrow mouth, Pylori... OMIM:248700
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Everted lower lip vermilion, Pulmonary artery stenosis, Re... ORPHA:75389
Lambert Syndrome
Ventricular septal defect, Wide mouth, Hypospadias, Malar flattening ORPHA:1296
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Hydronephrosis, Thro... OMIM:598500
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... OMIM:300400
Serkal Syndrome
Orofacial cleft, Abnormality of the adrenal glands, Hypospadias, Ventricular septal defect, Renal... ORPHA:139466
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, High palate, Tooth agenesis, Cleft palate, Hypogonadotropic hypogonadism ORPHA:1135
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Short philtrum, Interrupted aortic arch, Cryptorchidism, Hydronephrosis, Cle... ORPHA:163979
Posterior Urethral Valve
Retrognathia, Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infection... ORPHA:93110
Eec Syndrome
Orofacial cleft, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia,... ORPHA:1896
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Microcolon, Pulmonic stenosis, Intestinal malrotation, Perimembranous ventr... OMIM:600001
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus art... OMIM:616276
Aortic Arch Interruption
Bicuspid aortic valve, Transposition of the great arteries, Aortic valve atresia, Aortopulmonary ... ORPHA:2299
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia, Bicuspid aortic valve, Horsesh... OMIM:619318
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Bilateral microphthalmos, Aplasia/Hypoplasia of the scapulae, Th... ORPHA:2839
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Perimembranous ventricular septal defect, Thick lower lip vermilion, Widely-space... OMIM:301040
Czeizel-Losonci Syndrome
Dextrocardia, Congenital megaureter, Hypoplastic nipples, High palate, Tracheoesophageal fistula,... ORPHA:2437
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Cryptorchidism, Sideroblastic anemia, Diabetes me... OMIM:249270
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Sandestig-Stefanova Syndrome
Retrognathia, Perimembranous ventricular septal defect, Muscular ventricular septal defect, Orofa... OMIM:618804
Hardikar Syndrome
Bilateral cleft palate, Intestinal malrotation, Unilateral cleft lip, Splenomegaly, Hypersplenism... OMIM:301068
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis, Aganglionic megacolon, Anal atresia OMIM:235760
Meckel Syndrome, Type 7
Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Pancreatic cysts, Bile d... OMIM:267010
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Oculoauriculofrontonasal Syndrome
Narrow mouth, Micrognathia, Cleft palate, Broad philtrum, Cleft lip, Ventricular septal defect ORPHA:398156
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Microphthalmia, Downturned corners of mouth, Abnormal heart morphology, Cleft pala... OMIM:618571
17Q12 Microduplication Syndrome
Atrial septal defect, Cleft palate, Tracheoesophageal fistula, Microphthalmia ORPHA:261272
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Coronary sinus enlargement, Intestinal malrotation, Dysplastic tricu... OMIM:618280
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Pulmonic stenosis, Left ventricular hypertrophy, Penoscrotal transposition, Advan... OMIM:619148
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Wide mouth, Rectovestibular fistula, Unilateral renal dysplasia, Thin lower lip vermilion, Patent... ORPHA:280633
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Joubert Syndrome 37
Microphthalmia, High palate, Decreased testicular size, Hydronephrosis, Cryptorchidism, Micropenis OMIM:619185
Perlman Syndrome
Distal ileal atresia, Everted upper lip vermilion, Interrupted aortic arch, Nephroblastomatosis, ... OMIM:267000
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Persistent left superior vena cava, Pulmonary artery stenos... OMIM:615067
Orofaciodigital Syndrome Type 1
Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Lip pit, Abnormality of the denti... ORPHA:2750
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Long philtrum, Abnormality of thyroid physiology, Unilateral breast hypoplasia, Abnormality of th... OMIM:300968
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth,... OMIM:618506
Transaldolase Deficiency
Thin vermilion border, Anemia, Short philtrum, Pancytopenia, Patent foramen ovale, Coarctation of... OMIM:606003
Char Syndrome
Triangular mouth, Short philtrum, Short middle phalanx of the 5th finger, Everted lower lip vermi... ORPHA:46627
Emanuel Syndrome
Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Hypogonadism, Long philtr... ORPHA:96170
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Lymphangiectasis, Protein-losing enteropathy, Proximal tubulopathy, Renal cyst, Hype... OMIM:602579
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Tubular luminal dilatation, Hyperechogenic kidneys, Ventricular septal defec... OMIM:219730
Focal Dermal Hypoplasia
Microphthalmia, Renal hypoplasia/aplasia, Duodenal atresia, Abnormal dental enamel morphology, Sh... ORPHA:2092
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Downturned corners of mouth, Hydronephrosis, Abnormal heart morpholog... ORPHA:531151
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Renal cyst, Coarctation of aorta, Mitral s... OMIM:617260
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Hydronephrosis, Malar flat... ORPHA:364028
Zellweger Syndrome
Hypospadias, High palate, Cryptorchidism, Pyloric stenosis, Micrognathia, Hydronephrosis, Primary... ORPHA:912
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Amelia, Cleft upper lip, Foot oligodactyly, Short femur, V... OMIM:601357
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Hypoplasia of penis, Cryptorchidism, Micrognathia, Patent ductus arteriosu... ORPHA:452
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Vesicoureteral reflux, Hypoplasia ... ORPHA:85284
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Intestinal malrotation, Multicystic kidney dysplasia ORPHA:3032
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Unilateral renal dysplasia, Apl... OMIM:184705
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul... OMIM:604169
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
3Q29 Microdeletion Syndrome
Orofacial cleft, Microphthalmia, Horseshoe kidney, Hypospadias, Short philtrum, Dental crowding, ... ORPHA:65286
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Atrial septal defect, Hyperechogenic pancreas, Polycysti... OMIM:208540
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Hypospadias, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Coarctation of aorta, Short thumb, Ventricular... ORPHA:2876
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Parathyroid carcinoma, Polycystic kidney dysplasia, Nephrolithiasis, Papi... OMIM:145001
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve... OMIM:619343
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Retrognathia, Thin vermilion border, Hypertrophic cardiomyopathy, Protruding tongue, Cryptorchidi... OMIM:612938
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Adre... ORPHA:2166
Diamond-Blackfan Anemia 10
Anemia, Ectopic kidney, Macrocytic anemia, Reticulocytopenia, Micrognathia, Renal duplication, Cl... OMIM:613309
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level OMIM:274270
Li-Ghorbani-Weisz-Hubshman Syndrome
Downturned corners of mouth, Thick vermilion border, Patent ductus arteriosus, Atrial septal defe... OMIM:618974
Meckel Syndrome 13
Polycystic kidney dysplasia, Micrognathia OMIM:617562
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Nanophthalmos