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
High palate, Supernumerary nipple, Shortening of all distal phalanges of the fingers, Micrognathi... ORPHA:247262
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Cleft upper lip, Short distal phalanx of finger, Short toe, Cleft palate, Malar flattening, Abnor... 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
Double outlet right ventricle, Cleft upper lip, Cleft palate, Micrognathia, Hypospadias, Ventricu... OMIM:231060
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Renal hypoplasia/aplasia, Cleft palate, Abnormality of lower lip, Micrognathia, M... ORPHA:1166
Catel-Manzke Syndrome
High palate, Cleft upper lip, Cleft palate, Glossoptosis, Micrognathia, Coarctation of aorta, Ven... OMIM:616145
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, Atrial septal defect, Cryptorchidism, Pulmonic stenos... ORPHA:3304
8P23.1 Duplication Syndrome
Adrenal insufficiency, Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal ... ORPHA:251076
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Hypo... OMIM:601186
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft p... OMIM:220210
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Micrognathia, Hypoplasia of the thymus, Long philtrum, Ventricular se... OMIM:617022
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... OMIM:618845
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... OMIM:617912
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Overriding aorta, Ventricular septal defect, Patent ductu... OMIM:601927
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Narrow mouth, Carious teeth, Downturned corners of mouth, Hypoplasia ... ORPHA:1110
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Gingival overgrowth, Atrial septal defect, Malar flattening, Pulmo... OMIM:179613
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... ORPHA:294975
Mmep Syndrome
Oral cleft, Ventricular septal defect, Median cleft lip, Microphthalmia, Mandibular prognathia, C... ORPHA:3434
Diabetic Embryopathy
Aplasia/Hypoplasia affecting the eye, Renal hypoplasia/aplasia, Cleft palate, Micropenis, Microgn... ORPHA:1926
Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Cor pulmonale, Pierre-Robin sequence OMIM:261800
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Intestin... OMIM:616749
Johnson Neuroectodermal Syndrome
Cleft palate, Micropenis, Retrognathia, Hypogonadotropic hypogonadism, Carious teeth, Ventricular... OMIM:147770
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Hypoplasia of the ulna, Ventricular septal defect, Mesomelia, Renal cyst, Renal hyp... OMIM:228940
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Micrognathia, Tetralogy of Fallot, Ventricular septal defec... ORPHA:1727
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Long philtrum, Abnorm... ORPHA:477817
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Tetralogy of Fallot, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... OMIM:615542
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Aplasia/hypoplasia involving bones of the lower limbs, Atrioven... ORPHA:40366
Velocardiofacial Syndrome
Hypoparathyroidism, Velopharyngeal insufficiency, Cleft palate, Retrognathia, Double aortic arch,... OMIM:192430
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Gombo Syndrome
Microphthalmia, Delayed puberty, Abnormal heart morphology OMIM:233270
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Micropenis, Renal agenesis, Hypogonadotropic hypogon... ORPHA:2326
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Hypothyroidism, Goiter, Right aortic arch OMIM:617577
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect, Vascular ring, Abnormally large globe OMIM:603387
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... ORPHA:3384
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... OMIM:618719
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Hypoplastic left heart, Cleft pa... ORPHA:3426
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Malar flattening, Hypospadias, Tetralogy of Fallot, Unilateral ... ORPHA:1919
Thomas Syndrome
Cleft upper lip, Renal hypoplasia/aplasia, Hypoplastic left heart, Cleft palate, Multicystic kidn... ORPHA:3316
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... OMIM:618316
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy ORPHA:3033
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of the radius, Tetralogy of Fallot, Oral cleft, Hypoplasia o... ORPHA:3186
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Renal hypoplasia/aplasia, High, narrow palate, Cleft palate, Rena... ORPHA:2516
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Microphthalmia OMIM:248110
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Mic... OMIM:615524
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus, Short... OMIM:604381
Diamond-Blackfan Anemia 6
Cleft upper lip, Increased mean corpuscular volume, Atrial septal defect, Cleft palate, Retrognat... OMIM:612561
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Unilateral renal agenesis, Ventricular septal defec... OMIM:601355
Tetraploidy
Aplasia/Hypoplasia affecting the eye, Renal hypoplasia/aplasia, Cleft palate, Micrognathia, Short... ORPHA:3305
Fryns Syndrome
High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Tented upper lip vermi... ORPHA:2059
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Everted lower lip vermilion, Micrognathia, Long philtrum, Ventricular ... ORPHA:261120
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta, Short 5th metaca... ORPHA:228190
Tetraamelia Syndrome 2
Microretrognathia, Micropenis, Glossoptosis, Micrognathia, Ventricular septal defect, Hypoplastic... OMIM:618021
Cat Eye Syndrome
Tricuspid atresia, Cleft palate, Ventricular septal defect, Horseshoe kidney, Microphthalmia, Ana... OMIM:115470
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Cleft palate, Microphthalmia OMIM:616570
Maternal Phenylketonuria
Double outlet right ventricle, High palate, Hypoplastic left heart, Micrognathia, Long philtrum, ... ORPHA:2209
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
2p15-16.1 microdeletion syndrome
Optic disc hypoplasia, Hydronephrosis DECIPHER:70
RCAD (renal cysts and diabetes)
Multiple renal cysts, Diabetes mellitus DECIPHER:47
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Dextrocardia With Unusual Facies And Microphthalmia
Cleft palate, Micrognathia, Anophthalmia, Dextrocardia, Microphthalmia OMIM:221950
Faciothoracogenital Syndrome
Micrognathia, Glandular hypospadias, Long philtrum, Microphthalmia, Thin upper lip vermilion, Smo... OMIM:227320
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis, Hypoplasia of penis, Micrognathia, Hydroureter, Abnormality of the upper urina... ORPHA:2547
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency, Hypogonadism OMIM:615987
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Cryptorchidism, Micropenis, Micrognathia, Trismus, Microphallus, Abnormal heart morphology OMIM:218450
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Short h... OMIM:314390
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Tetralogy of Fall... ORPHA:1381
Trisomy 13
Atrial septal defect, High, narrow palate, Cleft palate, Malar flattening, Abnormality of the den... ORPHA:3378
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Bifid uvula, Hydronephrosis ORPHA:2669
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... OMIM:602418
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Atrial septal defect, Microphthalmia, Atrioventricular canal defect, Micrognathia, ... OMIM:600123
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:270100
Charge Syndrome
Cleft palate, Tracheoesophageal fistula, Hypoplasia of the ulna, Ventricular septal defect, Horse... OMIM:214800
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defec... OMIM:306955
Catel-Manzke Syndrome
Atrial septal defect, Malar flattening, Cleft palate, Glossoptosis, Micrognathia, Ventricular sep... ORPHA:1388
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Chordee, Atrial septal defect, Cleft palate, Micropenis, Hypospadias, Ventricular s... OMIM:309801
Holzgreve Syndrome
Cleft upper lip, Hypoplastic left heart, Cleft palate, Renal agenesis, Renal hypoplasia OMIM:236110
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Abnormality of the ureter, Hydronephrosis ORPHA:1450
Hadziselimovic Syndrome
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Tetralogy of Fallo... OMIM:612946
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Intestinal malrotation, Long philtrum, Short thumb, Pulmonary artery atresi... ORPHA:401935
Temtamy Syndrome
Short toe, Microphthalmia, Micrognathia, Aortic aneurysm, Abnormal palate morphology, Thick lower... ORPHA:1777
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Hypo... OMIM:615993
Fanconi Anemia, Complementation Group O
Anal atresia, Absent thumb, Hypoplasia of the radius, Renal cyst, Hydronephrosis, Stage 5 chronic... OMIM:613390
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten... OMIM:610205
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal def... ORPHA:210122
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Mckusick-Kaufman Syndrome
High palate, Ectopic anus, Anal atresia, Urogenital sinus anomaly, Atrial septal defect, Hypoplas... ORPHA:2473
Prune Belly Syndrome
Urogenital sinus anomaly, Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malr... ORPHA:2970
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal cardiac septum morphology, High, narrow palate, Cleft palate, Renal agenesis, Long philt... OMIM:618494
Nephrotic Syndrome, Type 11
High palate, Nephrotic syndrome, Renal tubular atrophy, Cleft palate, Diffuse mesangial sclerosis... OMIM:616730
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Intestinal obstruction, Abno... ORPHA:449400
Apert Syndrome
Ectopic anus, Dental malocclusion, Narrow palate, Cleft palate, Malar flattening, Delayed eruptio... OMIM:101200
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Situs inver... OMIM:605376
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Micrognathia, Hypospadias, Tetralogy of Fallot, Ventricular se... ORPHA:1913
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Increased size of the mandible, Pyloric stenosis, Increased mean platelet... OMIM:300048
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cryptorchidism, Cleft palate, Small hand, Micrognathia, Left ventricular hypertrophy... OMIM:611209
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Microphthalmia, Retrognathia, Hypogonadism ORPHA:2528
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Fetal Encasement Syndrome
Upper limb undergrowth, Tetralogy of Fallot, Horseshoe kidney, Lower limb undergrowth, Increased ... OMIM:613630
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Stroke, Nephropathy, Hematuria, Renal cyst, Dilatation of the cerebral artery, Vascular dilatatio... OMIM:611773
3C Syndrome
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Ventricular septal... ORPHA:7
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormality of the dentition, Hypospadias, Tetralogy of Fallot, Abnormality of... ORPHA:276422
Tetralogy Of Fallot
Thin vermilion border, Cryptorchidism, Tetralogy of Fallot ORPHA:3303
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Distal Tetrasomy 15Q
High palate, Hydrocele testis, Atrial septal defect, Retrognathia, Micrognathia, Abnormality of t... ORPHA:314588
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Tooth agenesis, Renal hypoplasia/aplasia, Cryptorchidism, Midshaft hyp... ORPHA:2863
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Vascular dil... OMIM:617056
Trisomy 17P
High palate, Wide mouth, Narrow mouth, Aortic valve stenosis, Hypoplastic left heart, Cleft palat... ORPHA:261290
Williams-Beuren Region Duplication Syndrome
High palate, Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Mi... OMIM:609757
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Hypodontia, Micropenis, Retrognathia, Pulmonic stenosis, Optic ner... OMIM:301056
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular septal defect, ... OMIM:249670
6P22 Microdeletion Syndrome
Abnormal palate morphology, Patent ductus arteriosus, Hydronephrosis ORPHA:251046
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Horseshoe kidney, Abnormal heart morphology, Anal atresia,... ORPHA:391641
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Micrognathia, Short philtrum, Ventricular septal defect, Widely-spaced maxi... OMIM:608227
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Hematuria, Cleft palate, Microphthalmia OMIM:120433
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Cleft palate, Urachus fistula, Cor triatriatum, Splenomegaly, Recurrent urinary trac... OMIM:612541
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Unilateral renal agenesis, Micrognathia, Recur... OMIM:613680
Digeorge Syndrome
High palate, Hydrocele testis, Cholelithiasis, Cleft palate, Ovarian cyst, Short philtrum, Thromb... OMIM:188400
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... ORPHA:1354
Trisomy 1Q
Anal atresia, Narrow mouth, Microretrognathia, Cleft palate, Congenital megaureter, Multicystic k... ORPHA:261344
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Fetal Minoxidil Syndrome
Ventricular septal defect, Micrognathia, Cryptorchidism ORPHA:1918
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide mouth, Abnormal cardiac septum morphology, Supernumerary nipple, Cleft palate, Micrognathia,... OMIM:618454
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Widely spaced teeth, Patent ductus arteriosus, Hydronephrosis, Cryptor... OMIM:619797
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Howell-J... OMIM:613759
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth, Atrial septal defect, Ventricular septal defect, Microphthalmia ORPHA:3469
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Tracheoesophageal fistula, H... ORPHA:861
Rubinstein-Taybi Syndrome 1
High palate, Cleft palate, Premature thelarche, Ventricular septal defect, Hypoplasia of the maxi... OMIM:180849
Isolated Dandy-Walker Malformation
Cleft palate, Tetralogy of Fallot ORPHA:217
Prune Belly Syndrome
Anal atresia, Hydroureter, Xerostomia, Urethral valve, Patent ductus arteriosus, Hydronephrosis, ... OMIM:100100
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydroureter, Hydronephrosis OMIM:264140
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Duodenal atresia, Median cleft palate, Hypoplastic left heart, Cle... OMIM:301043
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Tarp Syndrome
High palate, Short sternum, Cleft palate, Glossoptosis, Hypoplasia of the radius, Micrognathia, T... OMIM:311900
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Abnormality of the dentition, Micrognathia, Abnormality of the kidney OMIM:616901
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Malar flattening, Cleft palate, Short philtrum, Downturned corners of mouth, Ventri... ORPHA:94066
Cat-Eye Syndrome
Anal atresia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Micropht... ORPHA:195
Chromosome 22Q11.2 Deletion Syndrome, Distal
Malar flattening, Cleft palate, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum OMIM:611867
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Autosomal Recessive Amelia
Abnormal cardiac septum morphology, Hypoplasia of penis, Micrognathia, Acromelia of the lower lim... ORPHA:1027
Kleefstra Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Pyloric stenosis, Ventricular septal defec... ORPHA:261494
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Ventricular septal defect, Abnormal heart morphology, Nephrolithiasis, Recurrent u... ORPHA:353281
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Congenital Tracheomalacia
Atrial septal defect, Tracheoesophageal fistula, Double aortic arch, Esophageal atresia, Single v... ORPHA:95430
Meckel Syndrome, Type 4
Atrial septal defect, Cleft palate, Ventricular septal defect, Renal cyst, Meningocele, Microphth... OMIM:611134
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Cleft palate... ORPHA:2306
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Patent ductus arter... OMIM:618652
Microphthalmia, Syndromic 8
Cleft upper lip, Cryptorchidism, Cleft palate, Oral cleft, Microphthalmia, Mandibular prognathia,... OMIM:601349
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Atrial septal defect, Micropenis, Retrognathia, Micrognathia, Unilateral renal agene... OMIM:618142
Suleiman-El-Hattab Syndrome
High palate, Wide mouth, Microretrognathia, Atrial septal defect, Long philtrum, Downturned corne... OMIM:618950
Frontonasal Dysplasia 1
Median cleft palate, Tetralogy of Fallot, Hypoplastic frontal sinuses, Hypoplasia of the maxilla,... OMIM:136760
Li-Campeau Syndrome
Atrial septal defect, Cryptorchidism, Micropenis, Long philtrum, Ventricular septal defect, Hypot... OMIM:619189
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Atrial septal defect, Cleft palate, Intestinal malrotation, Downturned corners... ORPHA:457193
Verheij Syndrome
Abnormal cardiac septum morphology, Renal agenesis, Short 5th finger, Long philtrum, Renal cyst, ... OMIM:615583
Craniofacioskeletal Syndrome
Atrial septal defect, Cryptorchidism, Cleft palate, Small hand, Micrognathia, Short philtrum, Hyp... OMIM:300712
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cleft palate, Micrognathia, Hypoplasia of the thymus, Polycystic kidney dysplasia,... OMIM:214110
Intellectual Developmental Disorder, Autosomal Recessive 73
Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Widely spaced teeth, Patent ... OMIM:619717
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Intestinal malrotation, Situs i... ORPHA:244
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Alveolar ridge overgrowth, Cleft palate, Malar flattening, Splenomegaly, Pulmonary l... OMIM:235255
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Maternal diabetes, Mitral atresia,... ORPHA:2248
Williams Syndrome
Cholelithiasis, Wide mouth, Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery m... ORPHA:904
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Small hand, Multicystic ... OMIM:619980
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Say Syndrome
Short distal phalanx of finger, Cleft palate, Micrognathia, Proximal renal tubular acidosis, Cyst... OMIM:181180
Distal Monosomy 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Pallister-Hall Syndrome
Cleft palate, Decreased circulating cortisol level, Ventricular septal defect, Anteriorly placed ... OMIM:146510
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosis, Tooth malposition, Clef... ORPHA:2712
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, Situs inversus... OMIM:615415
Myopathy, Congenital, Progressive, With Scoliosis
High palate, Renal atrophy, Micrognathia, Hydronephrosis, Cryptorchidism OMIM:618578
Basel-Vanagaite-Smirin-Yosef Syndrome
Abnormal cardiac septum morphology, Cleft palate, Everted lower lip vermilion, Hypospadias, Short... OMIM:616449
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Microphthalmia ORPHA:2432
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Microgn... OMIM:608572
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Abnormality of the dentition, Multicystic kidney dysplasia, Carious t... ORPHA:3270
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Mosaic Trisomy 9
High palate, Atrial septal defect, Hypoplasia of penis, Cleft palate, Intestinal malrotation, Mic... ORPHA:99776
Kapur-Toriello Syndrome
Hypoplasia of penis, Intestinal malrotation, Tetralogy of Fallot, Oral cleft, Ventricular septal ... ORPHA:2328
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
3P25.3 Microdeletion Syndrome
Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic stenosis, Micrognathia, Short p... ORPHA:435638
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Hydronephrosis OMIM:607598
Adams-Oliver Syndrome 6
Splenomegaly, Ventricular septal defect, Renal hypoplasia, Esophageal varix, Foot oligodactyly, T... OMIM:616589
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Tracheoesophageal fistula, Hypospadias, Coarctation of aorta, V... ORPHA:1923
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Abnormality of the kidney, Renal cyst, Hypogonadism, Cryptorchidism OMIM:615982
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Subvalvula... OMIM:613001
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Renal tubular dysfunction, Atrial septal defect, P... OMIM:614886
Nanophthalmos 4
Microphthalmia OMIM:615972
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Ventricular sept... OMIM:616898
Emanuel Syndrome
High palate, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft palate, Micropenis,... OMIM:609029
Stankiewicz-Isidor Syndrome
Absent thumb, Micropenis, Retrognathia, Micrognathia, Hypospadias, Ureteral duplication, Short th... OMIM:617516
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
High palate, Short distal phalanx of finger, Gingival overgrowth, Increased urine alpha-ketogluta... OMIM:220500
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Colitis, Gastritis, Atrial septal defect, Bicuspid aortic v... ORPHA:84064
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia OMIM:251700
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... OMIM:173900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Alveolar ridge overgrowth, Splenomegaly, Abnormally large globe, Pulmonary lymphangi... ORPHA:1655
Craniofacial Microsomia
Wide mouth, Cleft palate, Maxillozygomatic hypoplasia, Ventricular septal defect, Hypoplasia of t... OMIM:164210
Congenital Rubella Syndrome
Atrial septal defect, Splenomegaly, Thrombocytopenia, Ventricular septal defect, Patent ductus ar... ORPHA:290
8P Inverted Duplication/Deletion Syndrome
Wide mouth, Precocious puberty, High, narrow palate, Everted lower lip vermilion, Retrognathia, M... ORPHA:96092
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Rectal prolapse, Horseshoe kidney, Pericard... OMIM:235510
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Coarctati... OMIM:615502
Carpenter Syndrome 1
High palate, Precocious puberty, Persistence of primary teeth, Atrial septal defect, Aplasia/Hypo... OMIM:201000
Feingold Syndrome 2
Intestinal atresia, Short middle phalanx of the 2nd finger, Ventricular septal defect, Short thum... OMIM:614326
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, High, narrow palate, Hypodontia, Supernumerary tooth... ORPHA:2919
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Hypoparathyroidism, Narrow palate, Atrial septal defect, Decreased... OMIM:618223
Galloway-Mowat Syndrome 7
High palate, Nephrotic syndrome, Renal tubular atrophy, Cleft palate, Diffuse mesangial sclerosis... OMIM:618348
22Q11.2 Deletion Syndrome
Tricuspid atresia, Cholelithiasis, Cleft palate, Abnormality of the dentition, Short philtrum, Ca... ORPHA:567
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Orofaciodigital Syndrome Xvii
High, narrow palate, Micropenis, Retrognathia, Short middle phalanx of the 2nd finger, Tetralogy ... OMIM:617926
Pseudotrisomy 13 Syndrome
Cleft upper lip, Anal atresia, Tricuspid atresia, Atrial septal defect, Micropenis, Renal agenesi... OMIM:264480
Pierpont Syndrome
Short toe, Prominent median palatal raphe, Long upper lip, Everted lower lip vermilion, Thin verm... OMIM:602342
Image Syndrome
Hypospadias, Micromelia, Adrenal hypoplasia, Hydronephrosis, Hypogonadism, Cryptorchidism ORPHA:85173
Noonan Syndrome 12
Lymphopenia, Decreased response to growth hormone stimulation test, 11 pairs of ribs, Tetralogy o... OMIM:618624
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Abnormal coronary artery morphology, Te... ORPHA:980
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Absent thumb, Hand oligodactyly, Intest... OMIM:156810
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Nodular goiter, Prema... ORPHA:371428
Zaki Syndrome
High palate, Wide mouth, Renal agenesis, Micrognathia, Short philtrum, Hypoplasia of the phalange... OMIM:619648
Mosaic Trisomy 1
Wide mouth, Microretrognathia, Renal cortical cysts, Cleft palate, Micropenis, Coarctation of aor... ORPHA:1692
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Conotruncal defect, Cleft palate OMIM:243440
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Lymphopenia, Enterocolitis, Intestinal atresia, Leukocytosis, Intestinal malrot... OMIM:243150
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Seckel Syndrome 2
Hypospadias, Micrognathia, Microdontia, Ectopic kidney, Microphthalmia, Microglossia OMIM:606744
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Tracheoesophageal fistula, Hypospadias, 11 pairs of ribs, Anophthalmia, Vent... ORPHA:77298
Acrorenal Syndrome
Renal hypoplasia/aplasia, Cleft palate, Micrognathia, Abnormal renal morphology, Aplasia/Hypoplas... ORPHA:971
Transketolase Deficiency
Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in urine, Ventri... ORPHA:488618
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Autoimmu... OMIM:613496
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect, Short middle phalanx of finger, Short thumb ORPHA:391646
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Carious teeth, Ventricular ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Carious teeth, Ventricular ... ORPHA:353277
Pentalogy Of Cantrell
Atrial septal defect, Cleft palate, Abnormal pericardium morphology, Renal agenesis, Hypospadias,... ORPHA:1335
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Short palm, Patent ductus arteriosus ORPHA:79094
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Cleft palate, Increased axial length of the globe, Micrognathia, Hyperplasia of the maxilla, Vent... ORPHA:513456
Robinow Syndrome
Tricuspid atresia, Dental crowding, Triangular mouth, Ventricular septal defect, Ankyloglossia, A... ORPHA:97360
Pallister-Hall-Like Syndrome
Cleft palate, Short ribs, Micropenis, Micrognathia, Micromelia, Anterior hypopituitarism, Renal d... OMIM:241800
Phace Association
Microphthalmia, Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Congenital... OMIM:606519
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Microretrognathia, Microphthalmia, Cleft palate, Short ribs, Bifid tongue, Lobulate... OMIM:616300
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia, Anemia, Ventricular septal defect, Abnormal tricuspid valve... ORPHA:3405
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Hydroureter, Urethral diverticulum,... OMIM:212093
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Short philtrum, Downturned corners of mouth, Ventricular septal defect, Rhizomelia,... ORPHA:93267
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Cryptorchidism, Open mouth OMIM:616816
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Micrognathia, Hydronephrosis, Vesicoureteral reflux, Cleft palate OMIM:618265
Chime Syndrome
Pulmonary valve atresia, Supernumerary tooth, Hypodontia, Cleft palate, Aplasia/Hypoplasia of the... ORPHA:3474
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Restrictive cardiomyopathy, Abnormality of the dentition, Long philtrum, Ureteral st... OMIM:615398
Down Syndrome
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Anal atr... OMIM:190685
Monosomy 18Q
High palate, Wide mouth, Absence of the pulmonary valve, Secundum atrial septal defect, Aortic va... ORPHA:1600
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Baraitser-Winter Syndrome 1
Cleft upper lip, Wide mouth, Bicuspid aortic valve, Aortic valve stenosis, Micropenis, Retrognath... OMIM:243310
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Ventricular septal defect, Microphthalmia, Leukemia, Smooth philtrum OMIM:602501
Pierpont Syndrome
Short toe, Long upper lip, Malar flattening, Everted lower lip vermilion, Thin vermilion border, ... ORPHA:487825
Thakker-Donnai Syndrome
Anal atresia, Narrow mouth, Tracheoesophageal fistula, Tetralogy of Fallot, Downturned corners of... ORPHA:1780
Timothy Syndrome
Microdontia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent ductus arteri... OMIM:601005
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Aplasia/Hypoplasia of the radius, Ventricular... ORPHA:2476
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Oral cleft OMIM:611638
X-Linked Intellectual Disability, Nascimento Type
Double outlet right ventricle, Wide mouth, Peripheral pulmonary artery stenosis, Mitral stenosis,... ORPHA:163956
Microphthalmia, Syndromic 2
Radiculomegaly, Delayed eruption of teeth, Ventricular septal defect, Microphthalmia, Double outl... OMIM:300166
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Tongue fasciculations, Atrial septal defect OMIM:253300
Distal Trisomy 6P
Aplasia/Hypoplasia affecting the eye, Narrow mouth, Thin vermilion border, Micrognathia, Abnormal... ORPHA:1745
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Micropenis, Multicystic kidn... OMIM:300209
Meckel Syndrome, Type 8
Cleft upper lip, Cleft palate, Hyperechogenic kidneys, Anophthalmia, Microphthalmia OMIM:613885
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Wide mouth, Peripheral pulmonary artery stenosis, Cleft palate, Short philtrum, Tetralogy of Fall... OMIM:280000
Congenital Disorder Of Glycosylation, Type It
Cleft palate, Micrognathia, Bifid uvula, Coarctation of aorta, Ventricular septal defect, Dilated... OMIM:614921
Fanconi Anemia, Complementation Group I
Neutropenia, Atrial septal defect, Decreased response to growth hormone stimulation test, Absent ... OMIM:609053
8Q12 Microduplication Syndrome
Narrow mouth, Atrial septal defect, Everted lower lip vermilion, Long philtrum, Ventricular septa... ORPHA:228399
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Intestinal malrotation, Micrognathia, Bifid tongue, Bilateral cleft lip a... ORPHA:2001
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Meckel Syndrome, Type 5
Cleft upper lip, Cleft palate, Renal cyst, Microphthalmia, Bile duct proliferation OMIM:611561
Braddock-Carey Syndrome 2
Wide mouth, Cleft palate, Retrognathia, Microphthalmia, Pierre-Robin sequence, Thrombocytopenia OMIM:619981
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Horses... OMIM:607323
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Cleft soft palate, Micrognathia, Microphthalmia, Esophageal atresia, Smooth... OMIM:614526
Coffin-Siris Syndrome 10
Ventricular septal defect, Wide mouth, Persistence of primary teeth OMIM:618506
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Velopharyngeal insufficiency, Atria... ORPHA:363444
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Short femur, Short ribs, Micrognathia, Micropenis, Hypospadias, Limb undergrowth, V... OMIM:616897
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Atrial septal defect, High, narrow palate, Cleft palate, Everted lower lip vermil... ORPHA:464738
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Recombinant 8 Syndrome
Cleft upper lip, Gingival overgrowth, Atrial septal defect, Cryptorchidism, Cleft palate, Abnorma... ORPHA:96167
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Autosomal Recessive Robinow Syndrome
Wide mouth, Abnormality of the dentition, Short philtrum, Ventricular septal defect, Tented upper... ORPHA:1507
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Short toe, Everted lower lip vermilion, Pulmonic stenosis, Long philtrum, Anterior o... OMIM:617877
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Opitz Gbbb Syndrome
High palate, Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Aortic root aneu... ORPHA:2745
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
High palate, Anal atresia, Short distal phalanx of finger, Hydrocele testis, Atrial septal defect... OMIM:614080
Kapur-Toriello Syndrome
Cleft upper lip, Atrial septal defect, Cleft palate, Micropenis, Intestinal malrotation, Abnormal... OMIM:244300
Aminopterin/Methotrexate Embryofetopathy
Cleft palate, Micrognathia, Micromelia, Tetralogy of Fallot, Pulmonary artery atresia, Ventricula... ORPHA:1908
Frank-Ter Haar Syndrome
Double outlet right ventricle, Wide mouth, Gingival overgrowth, Dental malocclusion, High palate,... OMIM:249420
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Cerebrocostomandibular Syndrome
High palate, Atrial septal defect, Malar flattening, Glossoptosis, Abnormality of the dentition, ... OMIM:117650
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the tibia, Cleft palate, Short femur, Micrognathi... ORPHA:1988
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Cleft palate, Micropenis, Hypospadias, Coarctation of aorta, Tetralogy of Fallot... OMIM:600460
Intellectual Disability, Buenos-Aires Type
High palate, Dental malocclusion, Abnormal cardiac septum morphology, Open bite, Hydronephrosis, ... ORPHA:3079
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Narrow palate, High, narrow palate, Cl... ORPHA:96169
1Q21.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Cryptorchidism, Long philtrum, Patent ductus art... ORPHA:250989
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Atrial septal defect, Micropenis, Hypogonadotropic hypogonadism, Bifid uvula, Co... OMIM:617159
Wolcott-Rallison Syndrome
Double outlet right ventricle, Chronic kidney disease, Atrial septal defect, Lymphocytosis, Iron ... ORPHA:1667
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Cleft palate, Micrognathia, Hypospadias, Multicystic kidney d... ORPHA:2075
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
2Q24 Microdeletion Syndrome
Abnormal oral frenulum morphology, Short philtrum, Cleft palate, Microphthalmia ORPHA:1617
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Narrow mouth, Abnormal localizatio... ORPHA:83473
German Syndrome
High palate, Abnormal cardiac septum morphology, Everted lower lip vermilion, Micrognathia, Tetra... ORPHA:2077
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Tracheoesophageal fistula, Horseshoe kidney, Microphthalmia, Perineal fistula, Ana... ORPHA:2538
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Multicystic kidney dysplasia ORPHA:2091
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Hydroureter, Neurogenic bladder, Thrombocytopenia, Hypo... OMIM:222300
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Inverted Duplicated Chromosome 15 Syndrome
High palate, Precocious puberty, Unilateral renal agenesis, Short philtrum, Tetralogy of Fallot, ... ORPHA:3306
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Cleft palate, Microdontia, Widely spaced teeth, Proteinuria, Microphthalmia... ORPHA:2728
Stevenson-Carey Syndrome
Narrow mouth, Atrial septal defect, Recurrent urinary tract infections, Left superior vena cava d... OMIM:611961
Marden-Walker Syndrome
Cleft palate, Abnormality of the upper urinary tract, Pyloric stenosis, Ventricular septal defect... ORPHA:2461
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phal... ORPHA:2256
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cleft palate, Intestinal malrotation, Micrognathia, Long philtrum, Bifid uvula, Downturned corner... ORPHA:404440
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Micrognathia, Ventricular septal defect, Abnormal vena cava ... ORPHA:166035
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect OMIM:614876
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Dilatation of the cerebral artery, Hepatic cysts OMIM:600666
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Malar flattening, Retrognathia, Micrognathia, Long philtrum, Pyloric stenos... OMIM:613177
Teebi-Shaltout Syndrome
Wide mouth, Narrow mouth, Aortic valve stenosis, High, narrow palate, Cleft palate, Oligodontia, ... OMIM:272950
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Cleft palate, Tetralogy of Fall... OMIM:612562
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Short distal phalanx of finger, Cleft palate, Short ribs, Short uvula, Hypospadias, ... OMIM:614091
Dysmyelination With Jaundice
Hydroureter, Cryptorchidism, Hypoplasia of penis, Hydronephrosis OMIM:224250
Heart And Brain Malformation Syndrome
High, narrow palate, Everted lower lip vermilion, Ventricular septal defect, Cleft lip, Microphth... OMIM:616920
Viss Syndrome
High palate, Tortuous cerebral arteries, Chronic gastritis, Aortic tortuosity, Pulmonary artery a... OMIM:619472
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Gingival overgrowth, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Micrognat... ORPHA:1834
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, Short 2nd finger, Atrial septal defect, Cleft palate, Secundum atrial septal def... OMIM:600987
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Mesomelia-Synostoses Syndrome
Narrow mouth, High, narrow palate, Malar flattening, Micrognathia, Aplasia/Hypoplasia of the uvul... ORPHA:2496
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Bifid tongue, Unilateral cryptorchidism, Bifid uvula, Lobu... OMIM:174300
Cofs Syndrome
Micrognathia, Hypogonadism, Microphthalmia, Everted lower lip vermilion ORPHA:1466
Diaphanospondylodysostosis
Myelomeningocele, Missing ribs, Cleft palate, Multiple renal cysts ORPHA:66637
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Micrognathia, Microphthalmia OMIM:616171
Johanson-Blizzard Syndrome
Anal atresia, Malabsorption, Abnormal cardiac septum morphology, Hypoplasia of penis, Abnormality... ORPHA:2315
Kabuki Syndrome
High palate, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Micr... ORPHA:2322
Mcdonough Syndrome
Dental malocclusion, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Micrognathia... OMIM:248950
Craniofacial Dyssynostosis With Short Stature
Malar flattening, Hypospadias, Pyloric stenosis, Ventricular septal defect, Patent ductus arterio... OMIM:218350
X-Linked Intellectual Disability, Schimke Type
High palate, Vesicoureteral reflux, Hydronephrosis ORPHA:85285
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Cryptorchidism, Atrioven... ORPHA:251071
Oculoauriculofrontonasal Syndrome
Narrow mouth, Cleft palate, Micrognathia, Ventricular septal defect, Cleft lip, Broad philtrum ORPHA:398156
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Aplasia/hypopla... ORPHA:3320
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Tarp Syndrome
Alveolar ridge overgrowth, Hypoplasia of proximal radius, Short sternum, Atrial septal defect, Cl... ORPHA:2886
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Everted lower lip vermilion, Long philtrum, Posterior pituitary hypoplasia,... ORPHA:75389
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Pursed lips, Malar flattening, Micrognathia, Aglossia, Patent ductus arteri... OMIM:241310
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
Bor Syndrome
Renal hypoplasia/aplasia, Cleft palate, Retrognathia, Multicystic kidney dysplasia, Ureteropelvic... ORPHA:107
Khan-Khan-Katsanis Syndrome
Triangular mouth, Buphthalmos, Micrognathia, Renal hypoplasia, Tented upper lip vermilion, Patent... OMIM:618460
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Fanconi Anemia, Complementation Group B
Duodenal atresia, Absent thumb, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fis... OMIM:300514
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy, High, narrow palate ORPHA:2515
Orofaciodigital Syndrome Xv
Hydronephrosis, Lobulated tongue OMIM:617127
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Wide mouth, Aplasia/Hypoplasia affecting the eye, Distal urethral duplication, Rena... ORPHA:2549
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Abnormally large globe, Ventricular septal defect, Increased overbite, Cryptorchidism OMIM:618504
Mycophenolate Mofetil Embryopathy
Tracheoesophageal fistula, Micrognathia, Coarctation of aorta, Oral cleft, Ventricular septal def... ORPHA:268249
Noonan Syndrome 9
Pulmonic stenosis, Hydroureter, Coarctation of aorta, Ventricular septal defect, Cryptorchidism OMIM:616559
Lambert Syndrome
Ventricular septal defect, Wide mouth, Hypospadias, Malar flattening ORPHA:1296
Fanconi Anemia, Complementation Group F
Pelvic kidney, Duodenal atresia, Atrial septal defect, Cryptorchidism, Absent thumb, Decreased re... OMIM:603467
Baller-Gerold Syndrome
High palate, Anal atresia, Malabsorption, Narrow mouth, Abnormal cardiac septum morphology, Cleft... ORPHA:1225
Toluene Embryopathy
Thin vermilion border, Micrognathia, Hypoplasia of the zygomatic bone, Abnormal localization of k... ORPHA:1920
Vacterl/Vater Association
Anal atresia, Abnormal cardiac septum morphology, Hypoplasia of penis, Cleft palate, Renal agenes... ORPHA:887
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Renal cyst, Atrial septal defect, Hepatic cysts OMIM:263630
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Bicuspid aortic valve, Unilateral microphthalmos, Horseshoe kidney, Bilateral micro... OMIM:619318
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Chromosome 14Q11-Q22 Deletion Syndrome
High palate, Narrow mouth, Micrognathia, Long philtrum, Ventricular septal defect, Patent ductus ... OMIM:613457
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Phaver Syndrome
Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect, Hypo... ORPHA:2876
Zellweger Syndrome
High palate, Abnormality of the tongue, Malabsorption, Micrognathia, Hypospadias, Multicystic kid... ORPHA:912
Joubert Syndrome 14
Malar flattening, Open mouth, Short philtrum, Renal cyst, Tented upper lip vermilion, Microphthalmia OMIM:614424
Serkal Syndrome
Pulmonic stenosis, Abnormal penis morphology, Malrotation of small bowel, Abnormality of the adre... ORPHA:139466
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Abnormality of bladder morphology, Bicuspid aortic valve, Atrial septal defect, Clef... ORPHA:453499
Czeizel-Losonci Syndrome
High palate, Myelomeningocele, Congenital megaureter, Tracheoesophageal fistula, Micrognathia, Ab... ORPHA:2437
Marden-Walker Syndrome
High palate, Narrow mouth, High, narrow palate, Cleft palate, Micropenis, Micrognathia, Hypospadi... OMIM:248700
Melnick-Needles Syndrome
Short distal phalanx of finger, Abnormal cardiac septum morphology, Short clavicles, Tooth malpos... ORPHA:2484
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Membranous subvalvular aortic stenosis, Micrognathia, Microdontia, Sub... ORPHA:3191
Coach Syndrome 1
Wide mouth, Nephronophthisis, Splenomegaly, Unilateral renal agenesis, Renal cyst, Vascular dilat... OMIM:216360
Perlman Syndrome
Long upper lip, Nephrogenic rest, Nephroblastomatosis, Micrognathia, Nephroblastoma, Distal ileal... OMIM:267000
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia, Cleft palate, Micrognathia, Microdontia, Non-midline cleft ... ORPHA:1915
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Noonan Syndrome 4
Wide mouth, Dental malocclusion, Atrial septal defect, Pulmonic stenosis, Ureteral duplication, T... OMIM:610733
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Cryptorchidism, Cleft palate, Micropenis, Hypospadias, Intracranial hemorrh... ORPHA:163979
Kury-Isidor Syndrome
High palate, Triangular mouth, Long philtrum, Ventricular septal defect, Widely spaced teeth, Ten... OMIM:619762
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Stroke, Atrial septal defect, Aminoaciduria, Ventricular septal defect, Sit... OMIM:249270
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, Micrognathia, Pulmonic stenosis, Renal hypoplasia, Patent foramen ovale, Microphtha... OMIM:618914
X-Linked Lissencephaly With Abnormal Genitalia
Malabsorption, Hypoplasia of penis, Micrognathia, Ventricular septal defect, Patent ductus arteri... ORPHA:452
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Short philtrum, Delayed eruption of teeth, Advanced eruption of teeth, Pyloric steno... OMIM:619148
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Long philtrum, Tetralogy of Fallot, Atrial septal defect OMIM:300887
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Hydroureter, Hydronephrosis, Diabetes me... OMIM:598500
Meckel Syndrome, Type 7
Aortic valve stenosis, Atrial septal defect, Right ventricular hypertrophy, Hepatosplenomegaly, M... OMIM:267010
Hydrolethalus
Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Micromelia, Bifid uvula, Anophthalmia, ... ORPHA:2189
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Chromosome 1P36 Deletion Syndrome, Proximal
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Microg... OMIM:619343
Takenouchi-Kosaki Syndrome
Dental malocclusion, Wide mouth, Abnormal cardiac septum morphology, Pulmonic stenosis, Unilatera... OMIM:616737
Char Syndrome
No permanent dentition, Persistence of primary teeth, Triangular mouth, Malar flattening, Everted... ORPHA:46627
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Microretrognathia, Cleft palate, Renal hypoplasia, Hypoplasia of the m... OMIM:246560
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
U-Shaped upper lip vermilion, Cryptorchidism, Macroglossia, Malar flattening, Reduced alpha/beta ... OMIM:301040
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cleft palate, Splenomegaly, Micrognathia, Hepatosplenomegaly, Renal cyst, Renal cortical microcys... OMIM:614866
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Retrognathia, Bifid uvula, Ventri... OMIM:612938
Eec Syndrome
Tooth agenesis, Taurodontia, Decreased response to growth hormone stimulation test, Cleft palate,... ORPHA:1896
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Emanuel Syndrome
High palate, Cleft palate, Delayed eruption of teeth, Ventricular septal defect, Submucous cleft ... ORPHA:96170
Transaldolase Deficiency
Wide mouth, Atrial septal defect, Splenomegaly, Thin vermilion border, Short philtrum, Hepatosple... OMIM:606003
Hypoglossia With Situs Inversus
High palate, Narrow mouth, Hypodontia, Micrognathia, Situs inversus totalis, Microglossia, Polysp... OMIM:612776
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Sideroblastic anemia, Patent ductus arteriosus, Thrombocytopenia OMIM:617021
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Atrial septal defect, Cleft palate, Microphthalmia ORPHA:261272
Koolen-De Vries Syndrome
High palate, Cleft upper lip, Bicuspid aortic valve, Narrow palate, Atrial septal defect, Cleft p... OMIM:610443
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Cleft palate, Long philtrum, Renal dysplasia, Downturned corners of mouth, Dee... OMIM:618571
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Glycosuria, Ventricular septal defect, Pancreatic hypoplasia, Microc... OMIM:600001
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Anal atresia, Atrial septal defect, Cleft palate, Small hand, Abnormality of the dentition, Long ... OMIM:300968
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon, Hydronephrosis OMIM:235760
Short Stature-Micrognathia Syndrome
High palate, Cleft palate, Micropenis, Retrognathia, Micrognathia, Hypospadias, Ventricular septa... OMIM:617164
Meckel Syndrome, Type 2
Cleft palate, Intestinal malrotation, Renal cyst, Meningocele, Microphthalmia, Bile duct prolifer... OMIM:603194
Nabais Sa-De Vries Syndrome, Type 2
High palate, Hypoplastic left heart, Thin vermilion border, Micrognathia, Multicystic kidney dysp... OMIM:618829
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Retrognathia, Recurrent urinary trac... ORPHA:93110
Cerebellar-Facial-Dental Syndrome
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... ORPHA:444072
Pelvis-Shoulder Dysplasia
Cleft palate, Aplasia/Hypoplasia of the clavicles, Micrognathia, Aplasia/Hypoplasia of the fibula... ORPHA:2839
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Diamond-Blackfan Anemia 10
Steroid-responsive anemia, Malar flattening, Cleft palate, Micrognathia, Renal duplication, Macro... OMIM:613309
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
Bresek Syndrome
Cleft palate, Optic nerve hypoplasia, Hypoplasia of the bladder, Renal dysplasia, Renal hypoplasi... ORPHA:85284
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Downturned corners of mouth, Patent ductus arter... OMIM:618974
Hardikar Syndrome
Hypoplasia of the bladder, Bladder exstrophy, Ventricular septal defect, Esophageal varix, Bile d... OMIM:301068
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Anal atresia, Atrial septal defect, Cryptorchidism, Intestinal malrotation, Hypospad... OMIM:617602
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Congenital Disorder Of Glycosylation, Type Il
Wide mouth, Abnormal cardiac septum morphology, Hepatosplenomegaly, Long philtrum, Polycystic kid... OMIM:608776
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
High palate, Wide mouth, Hydrocele testis, Proportionate shortening of all digits, Tented upper l... ORPHA:280633
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Micrognathia, Myxomatous mitral valve degeneration, Aor... OMIM:130090
Floating-Harbor Syndrome
Wide mouth, Celiac disease, Short philtrum, 11 pairs of ribs, Microdontia, Carious teeth, Hypopla... ORPHA:2044
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Duodenal atresia, Tooth agenesis, Short clavicles, Renal hypo... ORPHA:2092
Joubert Syndrome 37
High palate, Micropenis, Decreased testicular size, Microphthalmia, Hydronephrosis, Cryptorchidism OMIM:619185
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Otopalatodigital Syndrome Type 2
Myelomeningocele, Anodontia, Narrow mouth, Abnormal cardiac septum morphology, Cleft palate, Mala... ORPHA:90652
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis, Wide mouth, Decreased response to growth hormone stimulation test, Coarctation o... OMIM:617260
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Sandestig-Stefanova Syndrome
High palate, Muscular ventricular septal defect, Retrognathia, Oral cleft, Microphthalmia, Perime... OMIM:618804
Orofaciodigital Syndrome Type 1
High palate, Cleft palate, Abnormality of the dentition, Lobulated tongue, Tongue nodules, Protei... ORPHA:2750
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Steatorrhea, Villous atrophy, Renal cyst, Protein-losing enteropat... OMIM:602579
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Atrial septal defect, Splenomegaly, Intestinal malrotation, Pancreatic fib... OMIM:208540
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Biemond Syndrome Type 2
Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypogonadism ORPHA:141333
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Hydronephrosis, Abnormal tongue morphology, Cryptorchidism, Abnormal... ORPHA:531151
Filippi Syndrome
Hypodontia, Thin vermilion border, Short philtrum, Microdontia, Ventricular septal defect, Serrat... OMIM:272440
Acrocardiofacial Syndrome
Cleft upper lip, Anal atresia, Mitral stenosis, Atrial septal defect, Hypoplasia of penis, Cleft ... ORPHA:2008
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... OMIM:300400
Microphthalmia, Syndromic 11
Cleft upper lip, Agenesis of pineal gland, Cleft palate, Microphthalmia OMIM:614402
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial ... OMIM:108800
Orofaciodigital Syndrome I
High palate, Cleft palate, Ovarian cyst, Lobulated tongue, Carious teeth, Hepatic cysts, Tongue n... OMIM:311200
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth, High, narrow palate, Hypospadias, Malrotation of ... OMIM:601095
Hyperparathyroidism 2 With Jaw Tumors
Hurthle cell thyroid adenoma, Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephro... OMIM:145001
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent thumb, At... ORPHA:392
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Thin vermilion border, Micrognathia, Long philtrum, Microphthalmia, Aga... ORPHA:1438
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Tooth agenesis, Cleft palate, Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Alzahrani-Kuwahara Syndrome
Atrial septal defect, Hypodontia, Narrow philtrum, Micrognathia, Hypospadias, Pulmonary artery sl... OMIM:619268
Genitopatellar Syndrome
Atrial septal defect, Cryptorchidism, Micrognathia, Multicystic kidney dysplasia, Long philtrum, ... ORPHA:85201
Warburg Micro Syndrome 1