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Gene: Pigv MGI:2442480

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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
Bifid uvula, Downturned corners of mouth, Anteriorly placed anus, Supernumerary nipple, Micrognat... ORPHA:247262
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Abnormally large globe, Downturned corners of mouth, Cleft upper ... 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
Cleft upper lip, Micrognathia, Right aortic arch, Ventricular septal defect, Renal cyst, Transpos... OMIM:231060
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, M... OMIM:617616
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Micrognathia, Vesicoureteral reflux, Abnormal aortic morphol... ORPHA:1166
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
8P23.1 Duplication Syndrome
Long philtrum, Tetralogy of Fallot, Adrenal insufficiency, Ventricular septal defect, Hydronephro... ORPHA:251076
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Micrognathia, Cryptorchidism, Thin upper lip vermilion, Persistent left supe... ORPHA:3304
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... OMIM:220210
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ... OMIM:618845
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Thin upper lip vermilion, Overriding aorta, Atrial septal defect, Hydr... OMIM:601927
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Pierre Robin Syndrome
Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Downturned corners of mouth, Thick lower lip vermilion, Tetralogy o... OMIM:179613
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac septum morphol... ORPHA:294975
Microphthalmia, Syndromic 9
Micrognathia, Anophthalmia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Sing... OMIM:601186
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of... ORPHA:1110
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Aplasia/Hypoplasia of the thymus, Tetralogy of F... ORPHA:1727
Diabetic Embryopathy
Tetralogy of Fallot, Micrognathia, Abnormal aortic morphology, Abnormality of the pulmonary arter... ORPHA:1926
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Microphthalmi... ORPHA:3434
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Thin u... ORPHA:477817
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Micrognathia, Conotruncal defect, Median cleft palate, Aplasia/hyp... ORPHA:40366
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Lethal Congenital Contracture Syndrome 10
Narrow palate, Long philtrum, Micrognathia, Ventricular septal defect, Cardiomegaly, Hypoplasia o... OMIM:617022
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Retrognathia, Long... OMIM:300845
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Renal insufficiency, Truncus art... OMIM:617478
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Gombo Syndrome
Abnormal heart morphology, Delayed puberty, Microphthalmia OMIM:233270
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Retrognathia, Intestinal malrotation, Micrognathia, Anophthalmia, Crypto... OMIM:615524
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Renal agenesis, Bilateral cryptorchidism, An... ORPHA:2326
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Ciliary Dyskinesia, Primary, 37
Goiter, Situs inversus totalis, Right aortic arch, Hypothyroidism, Dextrocardia OMIM:617577
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Cleft upper lip, Renal hypoplasia/aplasia, ... ORPHA:3316
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Intestinal malrota... ORPHA:3426
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Horseshoe kidney, Scimitar anomaly... OMIM:608978
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Mandibular prognathia, Unilateral cleft lip, Tetralogy of Fallot, ... ORPHA:1919
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Ciliary Dyskinesia, Primary, 53
Polysplenia, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Chronic sinusitis, ... OMIM:620642
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts ORPHA:3033
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Abnormality of thyroid physiolog... OMIM:615542
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Absent gallbladder, Renal hypoplasia/aplasia, Median cleft upper lip, Aplasi... ORPHA:3186
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Renal agenesis, Micrognathia, Abnormal aorti... ORPHA:2516
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va... OMIM:604381
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Hypogonadism, Partial atrioventricular canal defect, Re... OMIM:615996
You-Hoover-Fong Syndrome
Vascular ring, Coarctation of aorta, Double aortic arch, Cleft palate, Accessory oral frenulum OMIM:616954
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Long philtrum, Anteriorly place... OMIM:618494
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short 5th metacarpal, Patent ductus arteri... ORPHA:228190
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Fryns Syndrome
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Microphthalmia, Anal atresia, High pa... ORPHA:2059
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Tetrasomy 15Q26
Microretrognathia, Horseshoe kidney, Hydronephrosis, Atrial septal defect, High palate, Hypoplast... OMIM:614846
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Increased mean corpuscular volume, Short thumb, Cleft upper... OMIM:612561
Cat Eye Syndrome
Micrognathia, Ventricular septal defect, Atrial septal defect, Rectal atresia, Microphthalmia, Ab... OMIM:115470
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Tetraploidy
Aplasia/Hypoplasia of the thymus, Micrognathia, Renal hypoplasia/aplasia, Hydronephrosis, Short p... ORPHA:3305
2p15-16.1 microdeletion syndrome
Hydronephrosis, Optic disc hypoplasia DECIPHER:70
14Q11.2 Microdeletion Syndrome
Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's bow, Ventricular septal defect, De... ORPHA:261120
RCAD (renal cysts and diabetes)
Multiple renal cysts, Diabetes mellitus DECIPHER:47
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Intestinal malrotation, Dextrotransposition of the grea... OMIM:619657
Nemaline Myopathy 9
High palate, Micrognathia, Cleft palate, Ventricular septal defect OMIM:615731
Maternal Phenylketonuria
Hypoplastic left heart, Long philtrum, Tetralogy of Fallot, Abnormal heart morphology, Micrognath... ORPHA:2209
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Bifid uvula, Abnormality of the urinary system ORPHA:2669
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Renal agenesis, Long philtrum, Retrognathia, Truncus arterios... OMIM:615583
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Double inlet lef... OMIM:270100
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Duodenal stenosis, Micrognathia, Abnormality of the upper urinary tract, Microphthal... ORPHA:2547
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Short distal phalanx of finger, Truncus arteriosus, Ventricular septal... OMIM:601355
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Volvulus, Abnormal hear... OMIM:301111
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Long philtrum, Tetralogy of Fallot, Intestinal malrotation, Cryptorchidis... OMIM:618316
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Cryptorchidism, Abnormal palate morphology, Anal atresia, Aplasia/Hypoplasia... ORPHA:1381
Trisomy 13
High, narrow palate, Abnormality of the dentition, Long philtrum, Abnormality of the ureter, Anop... ORPHA:3378
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Linear Skin Defects With Multiple Congenital Anomalies 1
Colonic atresia, Anteriorly placed anus, Histiocytoid cardiomyopathy, Ventricular septal defect, ... OMIM:309801
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Charge Syndrome
Lymphopenia, Unilateral microphthalmos, Micrognathia, Anophthalmia, Cryptorchidism, Ventricular s... OMIM:214800
Holzgreve Syndrome
Hypoplastic left heart, Renal hypoplasia, Renal agenesis, Cleft upper lip, Cleft palate OMIM:236110
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter, Abnormal palate morphology ORPHA:1450
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Renal insufficiency OMIM:615987
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Tetralogy of Fallot, Glandular hypospadias,... ORPHA:2473
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Weyers Ulnar Ray/Oligodactyly Syndrome
Mesomelia, Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Hydronephrosis, Solitary ... OMIM:602418
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Cryptorchidism, Tr... ORPHA:401935
Temtamy Syndrome
Short toe, Thick lower lip vermilion, Micrognathia, Abnormal palate morphology, Aortic aneurysm, ... ORPHA:1777
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Volvulus, Recurrent urinary tract infections, Tetralog... ORPHA:2970
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Ventricular septal defect... OMIM:620511
Catel-Manzke Syndrome
Bifid uvula, Short femur, Short toe, Cleft upper lip, Micrognathia, Narrow mouth, Cryptorchidism,... OMIM:616145
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... ORPHA:449400
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Tet... ORPHA:210122
Joubert Syndrome 18
Retrognathia, Horseshoe kidney, Ventricular septal defect, Renal cyst, Cleft palate, Lobulated to... OMIM:614815
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... OMIM:610205
Apert Syndrome
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Rhizomelic arm shortening, Malar fla... OMIM:101200
Catel-Manzke Syndrome
Oral synechia, Micrognathia, Malar flattening, Ventricular septal defect, Atrial septal defect, G... ORPHA:1388
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Abnormal heart morphology, Stage 5 chronic kidney disease, Cryptorchid... OMIM:613390
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Wide mouth, Narrow mouth, Thick vermilion border, ... ORPHA:261290
Hadziselimovic Syndrome
Ventricular hypertrophy, Renal hypoplasia, Thick lower lip vermilion, Tetralogy of Fallot, Ventri... OMIM:612946
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ankyloglossia, Micrognathia, Amelia, Ventricular septal defect,... OMIM:618021
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Transposition of the great arteries... ORPHA:1913
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Incr... OMIM:300048
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Cleft palate, Microphthalmia OMIM:616570
Meckel Syndrome, Type 8
Cleft upper lip, Hyperechogenic kidneys, Anophthalmia, Microphthalmia, Pericardial effusion, Poly... OMIM:613885
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dilatation of the cerebral artery, Renal cyst OMIM:174050
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Retrognathia, Leukopenia, Vesicoureteral reflux, Cryptorchidism, Ventricular septal d... OMIM:301056
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... ORPHA:1457
Distal Triplication 15Q
Dilatation of the renal pelvis, Retrognathia, Abnormal heart morphology, Horseshoe kidney, Microg... ORPHA:314588
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Hypogonadism, Narrow mouth, Microphthalmia, High palate ORPHA:2528
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ventricular septal defect, Microphthalmia, Ectopic kidney, Cystic renal dysplasia OMIM:613730
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl... OMIM:616730
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Polysplenia, Atrioventricular canal defect, ... OMIM:605376
Tetralogy Of Fallot
Tetralogy of Fallot, Cryptorchidism, Thin vermilion border ORPHA:3303
3C Syndrome
Aortic valve stenosis, Micrognathia, Abnormal mitral valve morphology, Ventricular septal defect,... ORPHA:7
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the dentition, Microretrognathia, Tetralogy of Fallot, Abnormality of the philtrum... ORPHA:276422
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Microphthalmia, High palate, Rectovaginal ... ORPHA:861
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Diastema, Decreased response to growth hormone stimulation test, Micro... OMIM:609757
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Atrial septal defect, Short p... OMIM:608227
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Broad alveolar ridges, Delayed eruption of teeth, Tooth agenesis, Anterior ... ORPHA:2863
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst, Vascular dil... OMIM:617056
Feingold Syndrome Type 1
Multiple muscular ventricular septal defects, Micrognathia, Abnormality of the kidney, Anal atres... ORPHA:391641
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus, Abnormal palate morphology ORPHA:251046
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Cryptorchidism, Hydron... OMIM:619797
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Everted lower lip vermilion, Atrial septal defect, Patent ductus arter... OMIM:249670
Digeorge Syndrome
Micrognathia, Ovarian cyst, Ventricular septal defect, High palate, Renal dysplasia, Patent ductu... OMIM:188400
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Recurre... ORPHA:730
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Absent radius, Short humerus, Hydronephrosis, Persistent left supe... OMIM:314390
Bardet-Biedl Syndrome 16
Renal agenesis, Hypogonadism, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Re... OMIM:615993
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed... OMIM:619902
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Carious teeth, Natal tooth, Cryptorchidism, Ventricular septal defect, Bic... ORPHA:353281
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Neutropenia, High palate, Patent duc... OMIM:612541
Fetal Encasement Syndrome
Upper limb undergrowth, Tetralogy of Fallot, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydr... OMIM:613630
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Trisomy 1Q
Multicystic kidney dysplasia, Microretrognathia, Narrow mouth, Anophthalmia, Cryptorchidism, Vent... ORPHA:261344
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Suleiman-El-Hattab Syndrome
Microretrognathia, Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Cryptor... OMIM:618950
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Long philtrum, Ventricular septal defect, Thin upper lip vermilion, Bicuspi... OMIM:616652
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Maternal diabetes,... ORPHA:2248
Rubinstein-Taybi Syndrome 1
Micrognathia, Narrow mouth, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Atr... OMIM:180849
Fetal Minoxidil Syndrome
Micrognathia, Cryptorchidism, Ventricular septal defect ORPHA:1918
Distal Deletion 15Q
Multicystic kidney dysplasia, Small hand, Micrognathia, Cryptorchidism, Bicuspid aortic valve, Mi... ORPHA:1596
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Anal atresia, Microphthalmia, Abnormal localization of ... ORPHA:195
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Sonoda Syndrome
Narrow mouth, Ventricular septal defect OMIM:270460
Chromosome 22Q11.2 Deletion Syndrome, Distal
Malar flattening, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate OMIM:611867
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Malar flattening, Ventricular septal defect, Ectopic anus, Aplasia/H... ORPHA:94066
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cleft palate, Cleft upper lip, Microphthalmia OMIM:120433
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter, Pulmonic stenosis OMIM:264140
Kleefstra Syndrome
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Everted l... ORPHA:261494
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Duodenal atresia, Micrognathia, Median cleft palate, Patent foramen ovale... OMIM:301043
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormality of the pul... ORPHA:1354
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal d... OMIM:618652
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti... ORPHA:95430
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Recu... OMIM:613680
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def... OMIM:620210
Autosomal Recessive Amelia
Micrognathia, Amelia, Acromelia of the lower limbs, Cryptorchidism, Orofacial cleft, Abnormal car... ORPHA:1027
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Xk Aprosencephaly Syndrome
Narrow mouth, Ventricular septal defect, Atrial septal defect, Microphthalmia, Anal atresia ORPHA:3469
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Li-Campeau Syndrome
Long philtrum, Patellar hypoplasia, Cryptorchidism, Patent foramen ovale, Ventricular septal defe... OMIM:619189
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Downturned corners of mouth, Intestinal malrotation, Cryptorchidism, Ventricul... ORPHA:457193
Primary Ciliary Dyskinesia
Polysplenia, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abno... ORPHA:244
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Retrognathia, Crossed fused renal ectopia, Micrognathia, Ventricular s... OMIM:618142
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Short 5th finger, Short distal phalanx of fing... OMIM:220500
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Orofacial cleft, Microphthalmia, Widely-s... OMIM:601349
Isolated Polycystic Liver Disease
Multiple renal cysts, Vascular dilatation ORPHA:2924
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Small hand, Anteriorly placed anus, Aortic valve prolapse, Ventricu... OMIM:619980
Craniofacioskeletal Syndrome
Interrupted aortic arch, Small hand, Micrognathia, Hypoplastic frontal sinuses, Cryptorchidism, A... OMIM:300712
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Howell-Jolly bodies, Left superior vena cava draining directly to the l... OMIM:613759
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, Micrognathia, Malar flattening, Cryptorc... OMIM:235255
Williams Syndrome
Carious teeth, Open bite, Micrognathia, Type II diabetes mellitus, Cryptorchidism, Mitral valve p... ORPHA:904
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Dilatation of the renal pelvis, Micrognathia, Dilatation of... OMIM:265380
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Abnormal heart morphology, Micrognathia, Cryptorchidism, Hypoplasia of the thymus,... OMIM:214110
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Long philtrum, Tetralogy of Fallot, Atrial septal defect, Microphthalmia OMIM:300887
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Renal insufficiency, Hematuria,... OMIM:611773
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Tetralogy of Fallot, Median cleft palate, Median cleft upper lip, Micr... OMIM:136760
Mosaic Trisomy 9
Tessier cleft, Micromelia, Renal dysplasia, Abnormal heart valve morphology, Horseshoe kidney, In... ORPHA:99776
Say Syndrome
Short distal phalanx of finger, Micrognathia, Cystic renal dysplasia, Proximal renal tubular acid... OMIM:181180
Congenital Myopathy 19
Micrognathia, Renal atrophy, Cryptorchidism, Hydronephrosis, High palate OMIM:618578
Intellectual Developmental Disorder, Autosomal Recessive 73
Widely spaced teeth, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Patent ... OMIM:619717
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Microphthalmia ORPHA:2432
Meckel Syndrome, Type 4
Ventricular septal defect, Renal cyst, Atrial septal defect, Microphthalmia, Bile duct proliferat... OMIM:611134
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormally large globe, Pancreatic lymphangiectasis, Hepatosplenomega... ORPHA:1655
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormality of the dentition, Multicystic kidney dysplasia, Carious teeth, Abnormal palate morpho... ORPHA:3270
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Hypogonadism, Cryptorchidism, Renal cyst, Abnormality of the kidney OMIM:615982
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate OMIM:119540
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Renal tubular dysfunction, Prominence of the premaxilla, Double outlet right vent... OMIM:614886
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip, Microphthalmia OMIM:600251
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
3P25.3 Microdeletion Syndrome
High, narrow palate, Acromesomelia, Mandibular prognathia, Downturned corners of mouth, Micrognat... ORPHA:435638
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Kapur-Toriello Syndrome
Tetralogy of Fallot, Intestinal malrotation, Ventricular septal defect, Orofacial cleft, Micropht... ORPHA:2328
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Cleft upper lip, 11 pairs of ribs, Median cleft palate, Complet... OMIM:264480
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Dilated cardiomyopathy, Micrognathia, Ventricular septal defect OMIM:607598
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Oculofaciocardiodental Syndrome
Tooth malposition, Peripheral pulmonary artery stenosis, Abnormality of the dentition, Delayed er... ORPHA:2712
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Micrognathia, Anophthalmia, Ventricular septal defect, Microphthalm... OMIM:164210
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Hepatic cysts, Cerebral berry aneurysm, Mitral valve pr... OMIM:173900
Carpenter Syndrome 1
Precocious puberty, Hypoplasia of the maxilla, Hydroureter, Polysplenia, Tetralogy of Fallot, Age... OMIM:201000
Adams-Oliver Syndrome 6
Renal hypoplasia, Foot oligodactyly, Splenomegaly, Truncus arteriosus, Ventricular septal defect,... OMIM:616589
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Cleft upper lip, Micrognathia, Narrow m... OMIM:608572
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of F... ORPHA:84064
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Small hand, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Pulmon... OMIM:235510
Pierpont Syndrome
Short toe, Widely spaced teeth, Short finger, Prominent median palatal raphe, Malar flattening, C... OMIM:602342
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ventricular sept... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ventricular sept... ORPHA:353277
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Retrognathi... OMIM:613177
Prune Belly Syndrome
Xerostomia, Hydroureter, Cryptorchidism, Hydronephrosis, Anal atresia, Patent ductus arteriosus, ... OMIM:100100
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Thin ver... OMIM:615502
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Precocious puberty, Abnormality of the urinary system, Retrognathia, Long ph... ORPHA:96092
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, B... ORPHA:371428
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Abnormal aortic morphology, Ventricular septal defect, Coarctat... ORPHA:1923
Immunodeficiency 42
Hypoplasia of the thymus, Recurrent aphthous stomatitis, Splenomegaly OMIM:616622
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Abnormal inf... ORPHA:980
Orofaciodigital Syndrome Xvii
High, narrow palate, Renal hypoplasia, Retrognathia, Tetralogy of Fallot, Short middle phalanx of... OMIM:617926
Noonan Syndrome 12
Anteriorly placed anus, Tetralogy of Fallot, Lymphopenia, 11 pairs of ribs, Decreased response to... OMIM:618624
Zaki Syndrome
Renal agenesis, Median pseudocleft lip, Micrognathia, Hypoplasia of the phalanges of the toes, Pa... OMIM:619648
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial sept... ORPHA:567
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Conotruncal defect, Cleft palate OMIM:243440
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Hypoplasia of the iris, Cryptorchidism, Ventricular septal ... OMIM:613001
Congenital Rubella Syndrome
Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Abnormality of the pulmonary artery, Ve... ORPHA:290
Pallister-Hall Syndrome
Natal tooth, Distal shortening of limbs, Cryptorchidism, Ventricular septal defect, Microphthalmi... OMIM:146510
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia OMIM:251700
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Atrial septal defect, Everted l... OMIM:616898
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Trismus, Anemia, Double aortic arch OMIM:230900
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Thrombocytosis, Leukocytosis... OMIM:243150
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Tetralogy of Fallot, Absent cupid's bow, Crossed fused renal ec... ORPHA:2919
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Retrognathia, Micrognathia, Cryptorchidism, Truncus arteriosus, Ventri... OMIM:617516
Feingold Syndrome Type 2
Short middle phalanx of finger, Short thumb, Jejunal atresia, Ventricular septal defect ORPHA:391646
Tarp Syndrome
Meckel diverticulum, Subdural hemorrhage, Tetralogy of Fallot, Horseshoe kidney, Micrognathia, Hy... OMIM:311900
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis, Situs inversus totalis OMIM:614844
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Mosaic Trisomy 1
Microretrognathia, Thick lower lip vermilion, Renal cortical cysts, Microphthalmia, Penile hyposp... ORPHA:1692
Feingold Syndrome 2
Short thumb, Short middle phalanx of the 2nd finger, Ventricular septal defect, Intestinal atresi... OMIM:614326
Robinow Syndrome
Tooth malposition, Multicystic kidney dysplasia, Ankyloglossia, Marked delay in eruption of perma... ORPHA:97360
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Image Syndrome
Micromelia, Hypogonadism, Cryptorchidism, Hydronephrosis, Adrenal hypoplasia, Hypospadias ORPHA:85173
Global Developmental Delay With Or Without Impaired Intellectual Development
Oligodontia, Ventricular septal defect, Thin upper lip vermilion, Atrial septal defect, Hypospadi... OMIM:618330
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Furrowed tongue, Tented upper lip vermilion, Ventricular septal defect, Hydronephro... OMIM:616449
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Micrognathia, Renal insufficiency, Renal hypoplasia/aplasia, Ab... ORPHA:971
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Cryptorchidism, Ventricular septal defect, Tracheoesophageal fist... ORPHA:77298
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl... OMIM:618348
Phace Association
Arterial stenosis, Congenital hypothyroidism, Ventricular septal defect, Lingual thyroid, Coarcta... OMIM:606519
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Short palm, Ventricular septal defect ORPHA:79094
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Downturned corners of mouth, Micrognathia, Ventricular septal defect, Microphthalmia,... ORPHA:93267
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Renal agenesis, Non-midline cleft of the upper lip, Polysplenia... ORPHA:1335
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Cleft lip, Decreased response to growth hormone stimulation test, Has... OMIM:618223
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Intestinal malrotation, Micrognathia, Abnormal aortic morphology, Bilater... ORPHA:2001
Chime Syndrome
Abnormality of the dentition, Aplasia/Hypoplasia of the phalanges of the toes, Aplastic clavicle,... ORPHA:3474
Joubert Syndrome 14
Open mouth, Intracranial hemorrhage, Tented upper lip vermilion, Ventricular septal defect, Malar... OMIM:614424
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Retrognathia, Long philtrum, Cleft upper lip, Cryptorchidism, Thin upper l... OMIM:243310
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes... ORPHA:3405
Pierpont Syndrome
Short toe, Widely spaced teeth, Short finger, Malar flattening, Cryptorchidism, Thin upper lip ve... ORPHA:487825
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Increased axial length of the globe, Everted upper lip vermilion, Hyperplasia of the maxilla, Wid... ORPHA:513456
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Unilateral cleft lip, Hypertrophic cardiomyopathy, Micrognathia, Ventricular septal defect, Hydro... OMIM:616897
Monosomy 18Q
Aortic valve stenosis, Secondary growth hormone deficiency, Mandibular prognathia, Secundum atria... ORPHA:1600
Transketolase Deficiency
Increased level of ribose in urine, Type I diabetes mellitus, Abnormal heart morphology, Patent f... ORPHA:488618
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Ventricular septal defect, Smooth philtrum, Microphthalmia, Leukemia OMIM:602501
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Crossed fus... ORPHA:3097
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Dilated cardiomyopathy, Micrognathia, Ventricular septal defect, Cardiomegaly, Hydro... OMIM:614921
Microphthalmia/Coloboma 5
Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Down Syndrome
Protruding tongue, Acute megakaryocytic leukemia, Ventricular septal defect, Atrial septal defect... OMIM:190685
Microphthalmia, Syndromic 2
Aortic valve stenosis, Anophthalmia, Mitral valve prolapse, Ventricular septal defect, Cryptorchi... OMIM:300166
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Long philtrum, Ankyloglossia, Vesicoureteral reflux, Cryptorchidism, Hyd... ORPHA:250989
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Downturned corners of mouth, Tetralogy of Fallot, Wide mout... ORPHA:163956
Distal Duplication 6P
Renal hypoplasia, Abnormality of the urinary system, Micrognathia, Narrow mouth, Hydronephrosis, ... ORPHA:1745
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Mandibular prognathia, Cholelithiasis, Retrognathia, Male urethral meatus st... ORPHA:464738
Cerebrocostomandibular Syndrome
Carious teeth, Cleft soft palate, Micrognathia, Ventricular septal defect, Short hard palate, Atr... OMIM:117650
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Abnormally large globe, Cryptorchidism, Increased overbite, Ventricula... OMIM:618504
Thakker-Donnai Syndrome
Downturned corners of mouth, Tetralogy of Fallot, Narrow mouth, Ventricular septal defect, Hydron... ORPHA:1780
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Braddock-Carey Syndrome 2
Retrognathia, Thrombocytopenia, Microphthalmia, Wide mouth, Cleft palate, Pierre-Robin sequence OMIM:619981
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Open bite, Ankyloglossia, Micrognathia, Cryptorchidism, Ventricular... ORPHA:1507
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Abnormality of the spleen, Esophagitis, Amelia, Anophthalmia, Perin... ORPHA:2538
Meckel Syndrome, Type 5
Cleft upper lip, Renal cyst, Microphthalmia, Bile duct proliferation, Cleft palate OMIM:611561
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Absent radius, Micr... OMIM:607323
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Open mouth, Ventricular septal defect, Everted lower lip vermilion, Duplicated collecting system,... OMIM:280000
8Q12 Microduplication Syndrome
Long philtrum, Narrow mouth, Vesicoureteral reflux, Ventricular septal defect, Atrial septal defe... ORPHA:228399
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, H... OMIM:609053
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Short distal phalanx of finger, Anal stenosis, Renal dysplasia, Long philtrum, Micrognathia, Vesi... OMIM:614080
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Abnormal... ORPHA:261183
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Renal hypoplasia, Cleft lip, Natal tooth, Short tibia, Rhizomelia, Micr... OMIM:616300
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Long penis, Long philtrum, Micrognathia, Cryptorchidism, Renal h... ORPHA:1988
Seckel Syndrome 2
Microglossia, Micrognathia, Microdontia, Ectopic kidney, Microphthalmia, Hypospadias OMIM:606744
Frank-Ter Haar Syndrome
Abnormally large globe, Secundum atrial septal defect, Dental malocclusion, Gingival overgrowth, ... OMIM:249420
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Smooth philtrum, Esophageal atresia, Atrial septal defect, Micro... OMIM:614526
Opitz Gbbb Syndrome
Aortic root aneurysm, Natal tooth, Ankyloglossia, Micrognathia, Cryptorchidism, Ventricular septa... ORPHA:2745
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Hypoplasia of the maxilla, Micro... OMIM:301108
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Cleft lip, Microphallus, Supernumerary nipple, Micrognathia, Vesicoureteral ref... OMIM:618454
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Wolcott-Rallison Syndrome
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Ren... ORPHA:1667
German Syndrome
Tetralogy of Fallot, Micrognathia, Open mouth, Cryptorchidism, Orofacial cleft, Everted lower lip... ORPHA:2077
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Temtamy Syndrome
Dental crowding, Long philtrum, Micrognathia, Aortic aneurysm, Microphthalmia, Short 2nd toe, Hyp... OMIM:218340
Mycophenolate Mofetil Embryopathy
Tessier cleft, Micrognathia, Ventricular septal defect, Orofacial cleft, Coarctation of aorta, Tr... ORPHA:268249
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Hepatic cysts, Truncu... OMIM:615415
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Secundum atrial septal defect, Cleft upper lip, Tented upper lip vermilion, Ven... OMIM:600987
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal localization of kidney, Narrow mouth, Abnormal cardiac septum morphology, Ventricular se... ORPHA:83473
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Open bite, Abnormal dental morphology, Hydronephrosis, Abnormal cardiac sept... ORPHA:3079
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Koolen-De Vries Syndrome
High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Vesicourete... ORPHA:96169
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Downturned corners of mouth, Long philtrum, Abnormal heart morphology, Intestinal ma... ORPHA:404440
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Abnormality of the dentition, Carious teeth, Dental malocclusion, Velo... ORPHA:363444
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Abnormality of the dentition, Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Downturn... OMIM:615398
Kapur-Toriello Syndrome
Abnormality of the urinary system, Short thumb, Cleft upper lip, Intestinal malrotation, Cryptorc... OMIM:244300
Recombinant 8 Syndrome
Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Tetralogy of Fallot, ... ORPHA:96167
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Downturned corners of mouth, Micrognathia, Cryptorchidism, Abnormal... ORPHA:2075
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Retrognathia, Micrognathia, Vesicoureteral reflux, Hydronephrosis, Cleft palate OMIM:618265
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Micrognathia, Cryptorchidism, Abnormality of the endocrine system, Ventricular ... ORPHA:166035
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect, Distal urethral duplication, Vesicoureteral reflux, Renal hypoplas... ORPHA:2549
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Abnormality of the dentition, Thick lower lip vermilion, Micr... OMIM:617557
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Unilateral renal agenesis, Tetralogy of Fallot, Hypogonadism, Cryptorchidism,... ORPHA:3306
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... ORPHA:2476
Stevenson-Carey Syndrome
Downturned corners of mouth, Recurrent urinary tract infections, Narrow mouth, Atrial septal defe... OMIM:611961
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Micro... OMIM:619472
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Wolfram Syndrome 1
Hydroureter, Cardiomyopathy, Sideroblastic anemia, Stroke-like episode, Hydronephrosis, Neurogeni... OMIM:222300
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Nabais Sa-De Vries Syndrome, Type 2
Hypoplastic left heart, Multicystic kidney dysplasia, Micrognathia, Bilateral cleft palate, Bilat... OMIM:618829
Marden-Walker Syndrome
Multicystic kidney dysplasia, Micrognathia, Narrow mouth, Ventricular septal defect, Renal hypopl... ORPHA:2461
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Ventricular septal... OMIM:600460
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Kury-Isidor Syndrome
Long philtrum, Widely spaced teeth, Tented upper lip vermilion, Ventricular septal defect, Hydron... OMIM:619762
2Q24 Microdeletion Syndrome
Short philtrum, Abnormal oral frenulum morphology, Cleft palate, Microphthalmia ORPHA:1617
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Emanuel Syndrome
Aortic valve stenosis, Micrognathia, Cryptorchidism, Ventricular septal defect, Delayed eruption ... OMIM:609029
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Malar flattening, Short ribs, Preductal coarctation of the aorta OMIM:215045
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Mesomelia, Short distal phalanx of finger, Renal hypoplasia, Hypoplastic scapulae, Short uvula, M... OMIM:614091
Cofs Syndrome
Hypogonadism, Micrognathia, Everted lower lip vermilion, Microphthalmia ORPHA:1466
Kabuki Syndrome
Small hand, Cryptorchidism, Renal hypoplasia/aplasia, Duplicated collecting system, High palate, ... ORPHA:2322
Bor Syndrome
Multicystic kidney dysplasia, Retrognathia, Vesicoureteral reflux, Renal insufficiency, Ureterope... ORPHA:107
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Short thumb, Increased mean corpuscular volume, Tetralogy of Fallo... OMIM:612562
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Giant platelets, Micrognathia, Narrow mouth, Cryptorchidism, High palate, Short foot,... OMIM:611209
Orofaciodigital Syndrome Xv
Hydronephrosis, Midline notch of upper alveolar ridge, Lobulated tongue OMIM:617127
Teebi-Shaltout Syndrome
Aortic valve stenosis, High, narrow palate, Ureteral stenosis, Horseshoe kidney, Prominent palati... OMIM:272950
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, High palate, Vesicoureteral reflux ORPHA:85285
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Abnormality of the spleen, Gingival... ORPHA:1834
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Renal insufficiency, Vesicoureteral ref... OMIM:617159
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Short toe, Long philtrum, Short 5th metacarpal, 11 pairs of ribs, Anterior open-... OMIM:617877
Giant Cell Arteritis
Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal... ORPHA:397
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Widely spaced teeth, Cryptorchidism, Microdontia, Proteinuria, Atri... ORPHA:2728
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Lymphopenia, Micrognathia, Vesicoureteral reflux, Tented upper lip vermilion, P... OMIM:618460
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... OMIM:614954
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Toluene Embryopathy
Hypoplasia of the zygomatic bone, Micrognathia, Cryptorchidism, Hydronephrosis, Smooth philtrum, ... ORPHA:1920
Mesomelia-Synostoses Syndrome
High, narrow palate, Micromelia, Long philtrum, Aplasia/Hypoplasia of the uvula, Micrognathia, Na... ORPHA:2496
Diaphanospondylodysostosis
Missing ribs, Multiple renal cysts, Cleft palate ORPHA:66637
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect OMIM:614876
Trisomy X
Precocious puberty, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ventricular septal de... ORPHA:3375
Orofaciodigital Syndrome V
Bifid uvula, Tetralogy of Fallot, Ankyloglossia, Horseshoe kidney, Hamartoma of tongue, Ventricul... OMIM:174300
Koolen-De Vries Syndrome
Narrow palate, Aortic root aneurysm, Cleft upper lip, Recurrent urinary tract infections, Widely ... OMIM:610443
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Horseshoe kidney, Fibular aplasia, Micrognathia, Absent radius, Aplasia/hypo... ORPHA:3320
Heart And Brain Malformation Syndrome
Interrupted aortic arch, High, narrow palate, Cleft lip, Thick lower lip vermilion, Ventricular s... OMIM:616920
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Oligodontia, Hyd... ORPHA:2315
Tarp Syndrome
Extramedullary hematopoiesis, Hypoplasia of proximal radius, Tetralogy of Fallot, Horseshoe kidne... ORPHA:2886
Vacterl/Vater Association
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the urethra, Renal... ORPHA:887
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Aplasia of the proximal phalanges of the hand, Micrognathia, Cryptorchidism, Ve... ORPHA:2256
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Malar flattening, Cryptorchidism, Ventricular septal defect, Hypospadias, Paten... OMIM:218350
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Short 5th finger, Cleft upper lip, Abnormal heart morphology, Micrognathia, Narrow... OMIM:239800
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Anteriorly placed anus, Abnormality of the uret... ORPHA:1225
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Downturned corners of mouth, Abnormal heart morphology, Atrioventricular canal defec... ORPHA:453499
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst, Atrial septal defect, Ventricular septal defect OMIM:263630
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar flattening, Atrial septal d... OMIM:241310
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr... OMIM:236730
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Duodenal ... OMIM:603467
Aminopterin/Methotrexate Embryofetopathy
Mesomelia, Micromelia, Tetralogy of Fallot, Micrognathia, Situs inversus totalis, Ventricular sep... ORPHA:1908
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Absent thumb, Renal agenesis, Duodenal atresia, Optic disc hypoplasia, ... OMIM:300514
Microphthalmia With Limb Anomalies
Finger aplasia, Retrognathia, Cleft upper lip, Foot oligodactyly, Anophthalmia, Fibular hypoplasi... OMIM:206920
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Absent thumb, Short thumb, Aplastic anemia, Horseshoe kidney, Nephrobl... OMIM:610832
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Varicose veins, Mi... OMIM:153400
Noonan Syndrome 9
Hydroureter, Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Pulmonic stenosis OMIM:616559
Split-Hand/Foot Malformation 3
Renal hypoplasia, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, High palate, Cleft ... OMIM:246560
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy, Microphthalmia, High palate OMIM:619053
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micromelia, Micrognathia, Anopht... ORPHA:2189
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Retrognathia, Micrognathia, Patent foramen ovale, Microphthalmia, Lens coloboma... OMIM:618914
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Micrognathia, Situs inversus totalis, Narrow mouth, Hypodontia, Asplen... OMIM:612776
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Dental malocclusion, Downturned corners of mouth, Long philtrum, Widel... OMIM:616737
Melnick-Needles Syndrome
Tooth malposition, Craniofacial hyperostosis, Short distal phalanx of finger, Delayed eruption of... ORPHA:2484
Fetal Alcohol Syndrome
Micrognathia, Microdontia, Thin upper lip vermilion, Smooth philtrum, Atrial septal defect, Micro... ORPHA:1915
Noonan Syndrome 4
Dental malocclusion, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Hydr... OMIM:610733
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Long philtrum, Micrognat... ORPHA:444072
Subaortic Stenosis-Short Stature Syndrome
Micrognathia, Type II diabetes mellitus, Microdontia, Subvalvular aortic stenosis, Microphthalmia... ORPHA:3191
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Long philtrum, Ventricular septal defect, Pulmonary artery stenosis, Abnormalit... ORPHA:75389
Marden-Walker Syndrome
High, narrow palate, Renal hypoplasia, Long philtrum, Micrognathia, Narrow mouth, Cryptorchidism,... OMIM:248700
Fryns Microphthalmia Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia OMIM:600776
Lambert Syndrome
Wide mouth, Hypospadias, Malar flattening, Ventricular septal defect ORPHA:1296
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Thrombocytopenia, Neutro... OMIM:598500
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Renal agenesis,... ORPHA:139466
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal... OMIM:616276
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Hypogonadotropic hypogonadism, Microphthalmia, High palate, Cleft palate ORPHA:1135
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Short 5th finger, Absent gallbladder, Cryptorchidism, Ventricular septal... ORPHA:163979
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Eec Syndrome
Carious teeth, Xerostomia, Tooth agenesis, Abnormal dental enamel morphology, Decreased response ... ORPHA:1896
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Ventricular septal defect, Atrial septal de... OMIM:600001
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
Pelvis-Shoulder Dysplasia
Microglossia, Bilateral microphthalmos, Micrognathia, Mesomelic/rhizomelic limb shortening, Thick... ORPHA:2839
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Renal agenesis, Widely-spaced maxillary central incisors, Diastema, Thick ... OMIM:301040
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthalmos, Bicuspid aortic valve, Ana... OMIM:619318
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Ureteral agenesis, Micrognathia, Hydronephrosis, Hypoplastic n... ORPHA:2437
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchidism, Thia... OMIM:249270
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Hardikar Syndrome
Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Ventricular septal defect, Bilateral cleft ... OMIM:301068
Sandestig-Stefanova Syndrome
Retrognathia, Muscular ventricular septal defect, Perimembranous ventricular septal defect, Orofa... OMIM:618804
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis, Aganglionic megacolon, Anal atresia OMIM:235760
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney d... OMIM:267010
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Small hand, Aortic root aneurysm, Narrow mouth, Urinary bladder wall hypertrophy, Atrial septal d... ORPHA:280633
Oculoauriculofrontonasal Syndrome
Cleft lip, Micrognathia, Narrow mouth, Ventricular septal defect, Broad philtrum, Cleft palate ORPHA:398156
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cleft lip, Microretrognathia, Downturned corners of mouth, Long philtrum, Abnormal heart morpholo... OMIM:618571
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Atrial septal defect, Cleft palate, Microphthalmia ORPHA:261272
Chromosome 13Q33-Q34 Deletion Syndrome
Micrognathia, Open mouth, Irregular dentition, Cryptorchidism, Microphthalmia, Anal atresia, High... OMIM:619148
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Perlman Syndrome
Interrupted aortic arch, Distal ileal atresia, Renal hamartoma, Everted upper lip vermilion, Neph... OMIM:267000
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Hydronephrosis, Microphthalmia, Micropenis, High palate OMIM:619185
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Open bite, Micrognathia, High palate, Accessory oral frenulum, Shor... ORPHA:2750
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Abnormality of the dentition, Small hand, Renal dysplasia, Long philtrum, Abnormalit... OMIM:300968
Transaldolase Deficiency
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent foramen ovale, Ventricular septal defect, ... OMIM:606003
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septal defect, Thick ve... OMIM:618506
Char Syndrome
Supernumerary nipple, Agenesis of permanent teeth, Persistence of primary teeth, Malar flattening... ORPHA:46627
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Micrognathia, Cryptorchidism, Ventricular septal defect... ORPHA:96170
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal corticomedullary cy... OMIM:219730
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Abnormal heart morphology, Cryptorchidis... ORPHA:531151
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Decreased response to growth hormone stimulation test, Mitral stenosis, Renal cy... OMIM:617260
Focal Dermal Hypoplasia
Abnormality of the dentition, Multicystic kidney dysplasia, Duodenal atresia, Tooth agenesis, Hor... ORPHA:2092
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Proximal tubulopathy, Villous atrophy, Renal cyst, Hyperinsulinemic h... OMIM:602579
Zellweger Syndrome
Multicystic kidney dysplasia, Micrognathia, Primary adrenal insufficiency, Cryptorchidism, Ventri... ORPHA:912
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m... ORPHA:364028
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
X-Linked Lissencephaly With Abnormal Genitalia
Micrognathia, Cryptorchidism, Ventricular septal defect, Aganglionic megacolon, Hypoplasia of pen... ORPHA:452
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Amelia, Bilateral cleft palate, Ventricular se... OMIM:601357
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Decreased testicular size, Vesicoureteral reflux, Cr... ORPHA:85284
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Steinfeld Syndrome
Bifid uvula, Unilateral renal dysplasia, Abnormal heart morphology, Median cleft palate, Absent g... OMIM:184705
3Q29 Microdeletion Syndrome
Abnormality of the dentition, Dental crowding, Horseshoe kidney, Short philtrum, Orofacial cleft,... ORPHA:65286
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Renal dysplasia, Polysplenia, Intestinal malrotation, Stage 5 chronic kidn... OMIM:208540
Phaver Syndrome
Short thumb, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresia, Hypoplast... ORPHA:2876
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia, Hypospadias ORPHA:141333
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Pancreatic adenocarcino... OMIM:145001
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Cleft lip, Biventricular hypertrophy, Coronary artery fistula, Micrognath... OMIM:619343
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Retrognathia, Hypertrophic cardiomyopathy, Protruding tongue, Cryptorchidism, Ventri... OMIM:612938
Diamond-Blackfan Anemia 10
Micrognathia, Malar flattening, Renal duplication, Ventricular septal defect, Macrocytic anemia, ... OMIM:613309
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Li-Ghorbani-Weisz-Hubshman Syndrome
Downturned corners of mouth, Ventricular septal defect, Atrial septal defect, Thick vermilion bor... OMIM:618974
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Abnormality of the hypothalamus-pituitary axis, Intestinal malrotat... ORPHA:2166
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Elevated urinary dihydrothymine level, Microphthalmia OMIM:274270
Meckel Syndrome 13
Micrognathia, Polycystic kidney dysplasia OMIM:617562
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Nanophthalmos
Microphthalmia ORPHA:35612
Ring Chromosome 10 Syndrome
Long philtrum, Micrognathia, Renal hypoplasia/aplasia, Aganglionic megacolon, Microphthalmia, Thi... ORPHA:1438
Congenital Toxoplasmosis
Cardiomegaly, Lymphadenopathy, Thrombocytopenia, Microphthalmia, Anemia ORPHA:858
Meckel Syndrome, Type 2
Intestinal malrotation, Renal cyst, Microphthalmia, Bile duct proliferation, Cleft palate OMIM:603194
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Patent foramen ovale, Hydronephrosis, Atrial septal defect, Patent ductus arteriosus OMIM:620327
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Micrognathia, Microphthalmia OMIM:616171
Warburg Micro Syndrome 1
Micrognathia, Narrow mouth, Cryptorchidism, Microphthalmia, Thin vermilion border OMIM:600118
Genitopatellar Syndrome
Multicystic kidney dysplasia, Delayed eruption of teeth, Long philtrum, Micrognathia, Patellar ap... ORPHA:85201
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia, Bilateral cleft palate ORPHA:1473
Baraitser-Winter Syndrome 2
Retrognathia, Long philtrum, Thin upper lip vermilion, Orofacial cleft, Microphthalmia, Wide mouth OMIM:614583
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Finger aplasia, Velopharyngeal insufficiency, Hypoplasia of the zygomatic bone, Micrognathia, Ves... OMIM:620663
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Micrognathia, Atrial septal defect, Hypoparathyroidism, Renal dysplas... ORPHA:369837
Otopalatodigital Syndrome Type 2
Short thumb, Abnormal heart valve morphology, Ureteral obstruction, Fibular aplasia, Micrognathia... ORPHA:90652
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Narrow mouth, Malar flattening, Atrial septal defect, Cleft palate ORPHA:93946
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Smooth philtrum, Short hallux, Ventricular septal defect OMIM:620393
46,Xy Sex Reversal 4
Long philtrum, Micrognathia, Ureteropelvic junction obstruction, Hydronephrosis, Hypergonadotropi... OMIM:154230
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Limb undergrowth OMIM:614209
Acrocardiofacial Syndrome
Cleft upper lip, Tetralogy of Fallot, Mitral stenosis, Cryptorchidism, Truncus arteriosus, Ventri... ORPHA:2008
Floating-Harbor Syndrome
Carious teeth, Dilatation of the renal pelvis, Cryptorchidism, Atrial septal defect, Celiac disea... ORPHA:2044
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Abnormal mitr... ORPHA:3310
Stromme Syndrome
Accessory spleen, Bilateral renal hypoplasia, Intestinal malrotation, Micrognathia, Jejunal atres... OMIM:243605
Cornelia De Lange Syndrome 1
Micrognathia, Cryptorchidism, Ventricular septal defect, High palate, Ectopic kidney, Hypospadias... OMIM:122470
Fryns Syndrome
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Microphthalmia, Anal atresia, Hy... OMIM:229850
Immunodeficiency 9
Lymphopenia, Recurrent aphthous stomatitis, Hypoplasia of the thymus, Amelogenesis imperfecta, Ab... OMIM:612782
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Downturned corners of mouth, Dental crowding, Intestinal mal... OMIM:617602
Orofaciodigital Syndrome I
Carious teeth, Ankyloglossia, Ovarian cyst, High palate, Polycystic kidney dysplasia, Abnormal he... OMIM:311200
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Smooth philtrum, Atrial ... ORPHA:261311
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Leukemia, Long philtrum, Micrognathia, Malar flattening, Nephroblas... OMIM:257300
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Cleft palate, Cleft upper lip, Microphthalmia OMIM:614402
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Atelis Syndrome 1
Carious teeth, Long philtrum, Leukopenia, Ventricular septal defect, Hypothyroidism, Atrial septa... OMIM:620184
Trisomy 8P
Short fifth metatarsal, Bifid uvula, Peripheral pulmonary artery stenosis, Nephrocalcinosis, Malr... ORPHA:264450
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Ankyloglossia, Unilateral microphthalmos, Malar flattening, Mitral valve prolapse, Bilateral clef... OMIM:618874
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Hydroureter, Dental crowding, Micrognathia, Delayed eruption of primar... OMIM:616367
Alg3-Cdg
Cardiomyopathy, Abnormality of the endocrine system, Coarctation of the descending aortic arch, M... ORPHA:79321
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Filippi Syndrome
Serrated incisors, Abnormal dental morphology, Cryptorchidism, Ventricular septal defect, Microdo... OMIM:272440
Micro Syndrome
Micrognathia, Cryptorchidism, Hydronephrosis, Short philtrum, Delayed puberty, High palate, Micro... ORPHA:2510
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Thin upper li... OMIM:601005
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Bartsocas-Papas Syndrome 2
Small hand, Micrognathia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Accessory ... OMIM:619339
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Upper lip pit, Renal agenesis, Tooth agenesis, Microdontia, Hydrone... ORPHA:1297
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Ventricular septal defect, Everte... OMIM:608670
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Persistence of primary teeth, Conotruncal defect, Protruding ... OMIM:610253
Doors Syndrome
Short lingual frenulum, Open mouth, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of t... ORPHA:79500
Holt-Oram Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Absent thumb, Atrioventricular canal de... ORPHA:392
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Narrow mouth, Micrognathia, Proteinuria, Hiatus hernia, Coarctati... OMIM:617729
ERI1-related disease
Velopharyngeal insufficiency, Abnormal heart morphology, Micrognathia, Vesicoureteral reflux, Ven... OMIM:608739
Chromosome 9P Deletion Syndrome
High, narrow palate, Narrow palate, Retrognathia, Long philtrum, Micrognathia, Narrow mouth, Mala... OMIM:158170
Congenital Fibrinogen Deficiency
Gingival bleeding, Volvulus, Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricula... ORPHA:335
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Dental crowding, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary ... OMIM:617168
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Unilateral cleft lip, Recurrent urinary tract infections, Horseshoe kidney... OMIM:619103
Hoxha-Aliu Syndrome
Short fifth metatarsal, Short distal phalanx of finger, Short 4th toe, Foot oligodactyly, Short 5... OMIM:620662
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Carey-Fineman-Ziter Syndrome
Long philtrum, Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Micrognathia, Hydronephro... ORPHA:1358
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Abnormal heart morphology, Renal insufficiency... ORPHA:2237
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, High, narrow palate, Micrognathia, Protruding tongue, Malar flattening, Ventricula... OMIM:214100
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Cleft lip, Functional abnormality of the bladder, Microretrognathia, ... ORPHA:2953
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Microphthalmia, Hypospadias, Shor... ORPHA:508498
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Polysplenia, Coronary artery fistula, Tented upper lip vermilion, Cryptorchidism... OMIM:614294
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Ureteral triplication, Mitral valve prolapse, Hydronephrosis, High palate, Patent ... OMIM:104350
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Abnormal heart morphology, Micrognathia, Smooth philtrum, Polycystic kidney dysplasia OMIM:263210
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Small hand, Long philtrum, Decreased response to growth hormone stimulation test, Mi... OMIM:241410
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Open mouth, Cryptorchidism, Patent foramen ovale, Transposition of the great arteries, Everted lo... OMIM:616789
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Retrognathia, Micrognathia, Narrow mouth, Protruding tongue, Splen... OMIM:608779
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Teebi Hypertelorism Syndrome 1
Small hand, Natal tooth, Aortic root aneurysm, Long philtrum, Dental crowding, Micrognathia, Vent... OMIM:145420
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Absent cupid's bow, Ventricular septal defect... ORPHA:284169
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Ovarian cyst, High palate, Short foot... OMIM:614527
Chromosome 5Q12 Deletion Syndrome
Long philtrum, Micrognathia, Patent foramen ovale, Ventricular septal defect, Atrial septal defec... OMIM:615668
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Abnormality of the urinary system, Patent ductus arteriosus, Anomalous pulmo... ORPHA:2184
Cardiac Diverticulum
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... ORPHA:1686
Monosomy 18P
Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Hypodontia, Hypothyr... ORPHA:1598
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Micrognathia, Crypto... OMIM:619135
Bardet-Biedl Syndrome 17
Hypogonadism, Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextr... OMIM:615994
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, Widely spaced teeth, Supernumerary nipple, Tented upper lip vermilion, Cryptorch... OMIM:612530
Trisomy 20P
Abnormality of the dentition, Downturned corners of mouth, Abnormality of the ureter, Micrognathi... ORPHA:261318
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Persistence of hemoglobin F, Persistence of primary teeth, Ventricular septal de... OMIM:619769
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Acromesomelia, Abnormal heart morphology, Open mouth, Cryptorchidism, Patent fo... ORPHA:500159
Vater/Vacterl Association
Hypospadias, Renal agenesis, Renal dysplasia, Short thumb, Tetralogy of Fallot, Vesicoureteral re... OMIM:192350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,... ORPHA:352665
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Small hand, Downturned corners of mouth, Supernumerary nipple, Abno... ORPHA:1001
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Dark urine, Ventricular... OMIM:619534
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Cardiomyopathy, Microphthalmia OMIM:613155
Distal Deletion 12Q
Micrognathia, Ectopic kidney, Duodenal atresia, Polycystic kidney dysplasia, Patent ductus arteri... ORPHA:96149
Mosaic Trisomy 16
Craniofacial asymmetry, Short forearm, Meckel diverticulum, Short thumb, Anteriorly placed anus, ... ORPHA:1708
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Horseshoe kidney, Micrognathia, Ventricular septal defect, Renal ... OMIM:250410
Fanconi Anemia, Complementation Group A
Absent thumb, Renal agenesis, Short thumb, Leukemia, Abnormal heart morphology, Horseshoe kidney,... OMIM:227650
Microphthalmia, Lenz Type
Abnormality of the dentition, Hydroureter, Delayed eruption of teeth, Abnormal dental morphology,... ORPHA:568
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Widely spaced teeth, Micrognathia, Microdontia OMIM:619694
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Micrognathia, Narrow mouth, Cryptorchidism, Missing ribs, Orofacial... ORPHA:3301
Periventricular Nodular Heterotopia 7
Microretrognathia, Dental crowding, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septa... OMIM:617201
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Hypoplastic scapulae, Cleft upper lip, Aplasia of the distal phalanx o... OMIM:308050
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Cleft lip, Renal agenesis, Adrenal gland agenesis, Ventricular septal ... OMIM:611812
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Downturned corners of mouth, Diastema, Cryptorchidism, Patent foramen ovale, Ventricular septal d... ORPHA:329224
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Downturned corners of mouth, Bilateral microphthalmos, Widely spaced teeth... ORPHA:369891
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Downturned corners of mouth, Tetralogy of Fallot, Conotruncal defect, Rena... ORPHA:96147
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Open mouth, Ventricular septal defect, ... OMIM:309520
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Hypoplastic scapulae, Natal tooth, Short toe, Short finger, Hamartoma of tongue... OMIM:269860
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Lymphadenitis, Urethritis, Hematuria, Abnormality of the anter... ORPHA:449395
Thoracoabdominal Syndrome
Renal agenesis, Cleft upper lip, Transposition of the great arteries, Ectopia cordis, Hypospadias... OMIM:313850
Wiskott-Aldrich Syndrome
Nephropathy, Vasculitis, Gingival bleeding, Inflammation of the large intestine, Abnormal eosinop... ORPHA:906
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
3Mc Syndrome 1
Short 5th finger, Cleft lip, Dental crowding, Cleft upper lip, Supernumerary nipple, Ventricular ... OMIM:257920
Webb-Dattani Syndrome
Retrognathia, Decreased response to growth hormone stimulation test, Vesicoureteral reflux, Crypt... OMIM:615926
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Micrognathia, Splenomeg... OMIM:617913
Fanconi Anemia, Complementation Group E
Absent thumb, Renal agenesis, Short thumb, Leukemia, Abnormal heart morphology, Horseshoe kidney,... OMIM:600901
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Micrognathia, Vesicoureteral reflux, Cryptorchidism, Ventricular septa... ORPHA:494344
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Stomach cancer, Intestinal polyposis, Abnormal aortic morphology, N... ORPHA:1052
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Retrognathi... OMIM:614576
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Arteriovenous malformation, Aplasia/Hypoplasia of the uvula, Micro... ORPHA:84
Robinow Syndrome, Autosomal Recessive 1
Small hand, Micrognathia, Cryptorchidism, Hypospadias, Mesomelic arm shortening, Downturned corne... OMIM:268310
Chromosome 2P16.1-P15 Deletion Syndrome
High, narrow palate, Retrognathia, Long philtrum, Hypogonadism, Decreased testicular size, Crypto... OMIM:612513
Au-Kline Syndrome
Chronic kidney disease, Bifid uvula, Dilatation of the renal pelvis, Aortic root aneurysm, Downtu... OMIM:616580
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Neonatal insulin-depen... ORPHA:2255
Pelger-Huet Anomaly
Abnormality of the dentition, Short 3rd metacarpal, Giant platelets, Upper limb undergrowth, Shor... OMIM:169400
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Increased serum... OMIM:618901
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Enuresis, Dental malocclusion, Retrognathia, Di... ORPHA:96121
Nanophthalmos 4
Microphthalmia OMIM:615972
Alg9-Cdg
Micrognathia, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Villous... ORPHA:79328
Tyshchenko Syndrome
High, narrow palate, Narrow palate, Supernumerary nipple, Cryptorchidism, Ventricular septal defe... OMIM:615102
Renpenning Syndrome 1
Renal hypoplasia, Mandibular prognathia, Tetralogy of Fallot, Macrodontia, Decreased testicular s... OMIM:309500
Frontometaphyseal Dysplasia 1
Cor pulmonale, Hydroureter, Dental malocclusion, Delayed eruption of teeth, Selective tooth agene... OMIM:305620
Holoprosencephaly 14
Cleft lip, Ventricular septal defect, Median cleft upper lip, Double outlet right ventricle, Aort... OMIM:619895
15Q Overgrowth Syndrome
High, narrow palate, Bifid uvula, Microretrognathia, Dental crowding, Ureterovesical stenosis, Re... ORPHA:314585
Fanconi Anemia, Complementation Group D2
Pancytopenia, Cryptorchidism, Neutropenia, Absent radius, Leukemia, Microphthalmia, Duplicated co... OMIM:227646
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Cryptorchidism, Ventricular septal defect OMIM:616816
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Stroke, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia, ... ORPHA:49827
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Non-midline cleft of the upper lip, Cleft palate, Microphthalmia ORPHA:2117
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Insulin-Like Growth Factor I, Resistance To
Small hand, Retrognathia, Long philtrum, Short finger, Rieger anomaly, Narrow mouth, Micrognathia... OMIM:270450
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Abnormal heart morphology, Micrognathia, Abnormal aortic valve morp... ORPHA:261197
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Aortic root aneurysm, Lymphopenia, Pancytopenia, Micrognathia, Open mout... OMIM:620654
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Ventricular septal defect, Renal hypo... ORPHA:818
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Total anomalous pulmonary venous return, Dental malocclusion, Downturn... ORPHA:487796
Moebius Syndrome
Bifid uvula, Abnormality of the dentition, Decreased testicular size, Aplasia/Hypoplasia involvin... OMIM:157900
Feingold Syndrome 1
Interrupted aortic arch, Accessory spleen, Annular pancreas, Short toe, Duodenal atresia, Short t... OMIM:164280
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Cleft soft palate, Micrognathia, Mitral valve prolapse, Vent... OMIM:142900
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Long philtrum, Widely sp... OMIM:617506
Hajdu-Cheney Syndrome
Dental malocclusion, Long philtrum, Intestinal malrotation, Micrognathia, Narrow mouth, Malar fla... OMIM:102500
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Hemiatrophy of upper limb, Oligosacchariduria, Long philtrum, Downturned corners of mouth, Microg... ORPHA:163649
Trisomy 18
Narrow palate, Microretrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Hydron... ORPHA:3380
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Cleft lip, Annular pancreas, Duodenal atresia, Furrowed tongue, Micrognath... OMIM:616975
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Cleft palate, Microphthalmia OMIM:164180
C Syndrome
Micromelia, Renal cortical cysts, Micrognathia, Cryptorchidism, Thick anterior alveolar ridges, V... OMIM:211750
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Clef... ORPHA:2521
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Arteriovenous malformation, Arterial stenosis, Micrognathia, Displa... ORPHA:1556
Phace Syndrome
Ectopic thyroid, Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal c... ORPHA:42775
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Open mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect... OMIM:301039
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Nephronophthisis, Splenomegaly, Short ribs, Ventricular septal defect, Or... OMIM:615630
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Renal... OMIM:613095
Triploidy
Intestinal malrotation, Wide mouth, Narrow mouth, Micrognathia, Cryptorchidism, Aplasia/Hypoplasi... ORPHA:3376
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anteriorly placed anus, Absent radius, Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia ... ORPHA:1352
Robinow Syndrome, Autosomal Dominant 3
Mesomelia, Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly... OMIM:616894
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Aganglionic megacolon, Atrial septal defect, Micropenis, Patent ductus... OMIM:613870
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Short tibia, Tetralogy of Fallot, Hamartoma of tongue, Micrognathia, Abse... OMIM:617925
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Bifid uvula, Renal malrotation, Abnormal renal collecting system morph... OMIM:113650
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Hypoplasia of the bladder, Valvular pulmonary stenosis, Hyd... OMIM:300707
Campomelia, Cumming Type
Multicystic kidney dysplasia, Micromelia, Abnormal intestine morphology, Aplasia/Hypoplasia affec... ORPHA:1318
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Polycystic ovaries, Renal hypoplasia/aplasia, Ventricular septal defec... ORPHA:1770
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Femoral-Facial Syndrome
Micrognathia, Cryptorchidism, Ventricular septal defect, Aplasia/hypoplasia of the femur, Polycys... OMIM:134780
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Villous atrophy, Wide mouth, Splenomegaly, Atrial septal defect, Pericardial effus... OMIM:608776
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Cleft soft palate, Narrow mouth, Micrognathia, Cryptorchidism, Ventricular se... OMIM:619503
Meckel Syndrome, Type 1
Natal tooth, Abnormality of the ureter, Micrognathia, Cryptorchidism, Microphthalmia, Anal atresi... OMIM:249000
Congenital Myopathy 17
Renal hypoplasia, Dental malocclusion, Long philtrum, Ureteropelvic junction obstruction, Tented ... OMIM:618975
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Pulmonic stenosis OMIM:620141
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Dilated cardiomyopathy, Renal insufficiency, Cardiomegaly, Hydronephrosis, Long-ch... OMIM:608836
Fanconi Anemia, Complementation Group G
Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis, Patent ductus arteriosus after premature birth, Ventri... OMIM:620454
Isolated Klippel-Feil Syndrome
Renal hypoplasia/aplasia, Ventricular septal defect, Ectopic anus, Anal atresia, Cleft palate ORPHA:2345
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Malar prominence, Hypogonadotropic hypogonadism, Micrognathia, Microphthalmia ORPHA:48431
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Micrognathia, Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, C... ORPHA:49
Spondylo-Ocular Syndrome
Long philtrum, Ventricular septal defect, Aplasia/Hypoplasia of the lens, Microphthalmia, Thin ve... ORPHA:85194
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Natal tooth, Fibular aplasia, Micrognathia, Ventricular septal defe... OMIM:300373
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dysplasti... OMIM:601808
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u... ORPHA:2973
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Duodenal stenosis, Horseshoe kidney, Vesicoureteral reflux, A... ORPHA:2470
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the z... ORPHA:193
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... ORPHA:2260
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Absent thumb, Renal agenesis, Short thumb, Leukemia, Horseshoe kidne... OMIM:227645
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Microretrognathia, Ureteral agenesis, Renal cyst, Renal dysplasia OMIM:236500
Chromosome 6Pter-P24 Deletion Syndrome
Dental crowding, Cleft upper lip, Tetralogy of Fallot, Abnormal dental morphology, Narrow mouth, ... OMIM:612582
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Absent thumb, Agenesis of permanent teeth, Microphthalmia, Anemia, A... OMIM:617244
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Splenomegaly, Ventricular s... OMIM:608149
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Bone marrow hypocell... ORPHA:2308
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Mic... OMIM:208085
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Micromelia, Cryptorchidism, Ventricular septal defect, Hypoplasia of penis ORPHA:2772
Kawasaki Disease
Vasculitis, Strawberry tongue, Sterile pyuria, Double outlet right ventricle with subpulmonary ve... ORPHA:2331
Thauvin-Robinet-Faivre Syndrome
Bifid ureter, Thick vermilion border, Transient neutropenia, Nephroblastoma, Mitral valve prolaps... OMIM:617107
Ververi-Brady Syndrome
Thin upper lip vermilion, Smooth philtrum, Transposition of the great arteries, Everted lower lip... OMIM:617982
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulm... ORPHA:3427
Cockayne Syndrome Type 3
Vascular calcification, Unilateral renal agenesis, Renal hypoplasia, Carious teeth, Aortic root a... ORPHA:90324
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Long philtrum, Micrognathia, Patent foramen ovale, Ventricular septal... OMIM:619268
Hyperphosphatasia-Intellectual Disability Syndrome
Bifid uvula, Downturned corners of mouth, Anteriorly placed anus, Supernumerary nipple, Micrognat... ORPHA:247262
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Ureteral stenosis, Patellar ... ORPHA:2257
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Intestinal malrotation, Aortic ar... OMIM:613834
Cranioectodermal Dysplasia 2
Micrognathia, Atrial septal defect, Everted lower lip vermilion, High palate, Bile duct prolifera... OMIM:613610
Hajdu-Cheney Syndrome
Aortic valve stenosis, Periodontitis, Open bite, Micrognathia, Narrow mouth, Ventricular septal d... ORPHA:955
Atelis Syndrome 2
Downturned corners of mouth, Diastema, Thick lower lip vermilion, Elevated circulating thyroid-st... OMIM:620185
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... ORPHA:137888
Warsaw Breakage Syndrome
Tetralogy of Fallot, High palate, Wide mouth, Ventricular septal defect OMIM:613398
Meckel Syndrome, Type 10
Bifid uvula, Renal cyst, Micropenis, Hypospadias, Cleft palate OMIM:614175
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Micropenis, Wi... OMIM:617798
Lateral Meningocele Syndrome
Dental crowding, Long philtrum, Micrognathia, Malar flattening, Cryptorchidism, Ventricular septa... OMIM:130720
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... OMIM:614105
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Cleft upper lip, Ventricular septal defect OMIM:214300
3Q29 Microduplication Syndrome
Abnormality of the dentition, Aniridia, Ventricular septal defect, Ectopic anus, Deep philtrum, M... ORPHA:251038
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Aplasia/Hypoplasia of the radius, Optic disc hypoplasia, Short... ORPHA:959
Roifman Syndrome
Downturned corners of mouth, Long philtrum, Short toe, Splenomegaly, Ventricular septal defect, N... OMIM:616651
Phelan-Mcdermid Syndrome
Dental malocclusion, Long philtrum, Widely spaced teeth, Micrognathia, Vesicoureteral reflux, Mal... OMIM:606232
Radio-Renal Syndrome
High, narrow palate, Multicystic kidney dysplasia, Renal agenesis, Downturned corners of mouth, R... ORPHA:3015
Distal Duplication 5Q
Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, Cryptorchidism, Ventricul... ORPHA:96097
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Hydroureter, Abnormal heart morphology, Hydronephrosis, Fetal megacystis OMIM:619362
Adams-Oliver Syndrome
Short distal phalanx of finger, Arteriovenous malformation, Tetralogy of Fallot, Absent hand, Leu... ORPHA:974
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Short 5th finger, Small hand, Hydroureter, Downturned corners of mouth, Long philtrum, Micrognath... OMIM:610759
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Vesicoureteral reflux, Patent foramen ... OMIM:614261
Microphthalmia With Limb Anomalies
Finger aplasia, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Short tibia, Long philtr... ORPHA:1106
Congenital Varicella Syndrome
Micromelia, Microphthalmia ORPHA:291
Floating-Harbor Syndrome
Carious teeth, Cryptorchidism, Atrial septal defect, Celiac disease, Hypospadias, Short 1st metac... OMIM:136140
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Gingival overgrowth, Protruding tongue, Patent foramen ovale, Hydronephrosis OMIM:619179
Proboscis Lateralis
Unilateral renal agenesis, Abnormality of the maxillary sinus, Abnormal facial skeleton morpholog... ORPHA:141099
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Micrognathia, Ventricular septal defect, Hematuria, Proteinuria, Tubulointerstitial ... OMIM:616901
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Anteriorly placed anus, Supernumerary nipple, Vesicoureteral reflux, Cryptorchid... OMIM:618653
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Open bite, Splenomegaly, Polycystic ova... ORPHA:2969
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Retrognathia, Long philtrum, Micrognathia, Ventricular septal defect, Thin upper... OMIM:617061
Smith-Lemli-Opitz Syndrome
Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Duplicated collect... OMIM:270400
Tuberous Sclerosis 1
Dental enamel pits, Precocious puberty, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Rena... OMIM:191100
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Nephrocalcinosis, Infection associated neutropenia, Cardiomyopathy, ... ORPHA:445038
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morphology, Abno... ORPHA:464329
Charge Syndrome
Narrow mouth, Anophthalmia, Cryptorchidism, Microphthalmia, Patent ductus arteriosus, Tetralogy o... ORPHA:138
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Dilatation of the renal pelvis, Fibular aplasia, Micrognathia, Hepatosplenomegaly,... OMIM:274000
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Retrognathia, Ventricular septal defect, High palate, Patent ductus arteriosus, Cleft palate ORPHA:52055
Microform Holoprosencephaly
Renal agenesis, Tetralogy of Fallot, Panhypopituitarism, Tented upper lip vermilion, Short philtr... ORPHA:280200
Kabuki Syndrome 1
Anoperineal fistula, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defec... OMIM:147920
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Hypospadias, Unilateral renal agenesis, Short toe, Duodenal atresia, Crypt... ORPHA:464311
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Ventricular septal defect... OMIM:312870
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Microphthalmia ORPHA:324416
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral hypoplasia, Anophthalmia, Cryptorchidism, Ventricular septal defec... OMIM:206900
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal cerebral vascular morphology, Long philtrum, Dilatation of the ce... ORPHA:363705
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Crypto... ORPHA:3472
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft palate, Cleft upper lip, Ventricular septal defect OMIM:609654
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microphthalmia OMIM:300915
Martsolf Syndrome 1
Tooth malposition, Hypoplasia of the maxilla, Short toe, Cardiomyopathy, Long philtrum, Micrognat... OMIM:212720
Raine Syndrome
Mandibular prognathia, Natal tooth, Hydroureter, Micromelia, Gingival overgrowth, Narrow mouth, P... OMIM:259775
Short Stature-Micrognathia Syndrome
Rhizomelia, Retrognathia, Micrognathia, Cryptorchidism, Ventricular septal defect, Penoscrotal hy... OMIM:617164
Trigonocephaly With Short Stature And Developmental Delay
High palate, Broad alveolar ridges, Ventricular septal defect OMIM:314320
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis, Micrognathia, Cryptorchidism ORPHA:2083
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Ventricular septal defect, Short hallux, Abnormality of the kidney, ... ORPHA:508488
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Hiatus ... OMIM:618164
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Atrioventricular canal defect, Micrognathia, Cryptorchidism, Ventricular septal defect... OMIM:619123
Holoprosencephaly
Abnormality of the spleen, Anophthalmia, Cryptorchidism, Ventricular septal defect, Microphthalmi... ORPHA:2162
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Nance-Horan Syndrome
Abnormality of the dentition, Microphthalmia, Supernumerary tooth, Mandibular prognathia, Short m... ORPHA:627
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, At... ORPHA:373
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Micrognathia, Ventricular septal defect, Atrial septal defect, Neutr... OMIM:105650
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Abnormally large globe, Downturned corners of mouth, Cleft upper ... OMIM:239300
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Mandibular prognathia, Microretrognathia, Dilation of Virchow-Robin spaces, Dental crowding, Long... OMIM:300998
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Large vessel vasculitis, Unilateral renal hypoplasia, Ren... ORPHA:49041
Ellis Van Creveld Syndrome
Acute leukemia, Abnormality of the ureter, Cryptorchidism, Ventricular septal defect, Renal hypop... ORPHA:289
Cerebrooculofacioskeletal Syndrome 1
Carious teeth, Delayed eruption of teeth, Long philtrum, Micrognathia, Cryptorchidism, Microphtha... OMIM:214150
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Retrognathia, Intestinal pseudo-obstruction, Long philtrum, Cryptor... ORPHA:73246
Peters Plus Syndrome
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Renal hypoplasia/aplasia, Anal atresi... ORPHA:709
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, High palate, Ventricular septal defect ORPHA:3369
Birt-Hogg-Dube Syndrome 1
Renal cyst, Large intestinal polyposis, Renal cell carcinoma, Renal neoplasm, Colon cancer OMIM:135150
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle... OMIM:604292
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract, Intestinal polyposis, Intestinal obstruction ORPHA:873
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Ventricula... OMIM:616277
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Dental malocclusion, Hypertrophic cardiomyopathy, Open bite, Microg... OMIM:115150
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Retrognathia, Long philtrum, Supernumerary nipple, Hypogonadism, De... ORPHA:261349
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Renal hypoplasia, Small hand, Severe B lymphocytopenia, Lymphopenia, 11 pairs o... OMIM:620005
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal ... OMIM:614922
Alagille Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormality of the ureter, ... ORPHA:52
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, High palate, Ventricular septal defect OMIM:619995
Pfeiffer Syndrome Type 3
Small hand, Horseshoe kidney, Intestinal malrotation, Vesicoureteral reflux, Hydronephrosis, Shor... ORPHA:93260
Okamoto Syndrome
Aortic valve stenosis, Anal stenosis, Abnormally large globe, Exaggerated median tongue furrow, D... ORPHA:2729
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614262
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Retrognathia, Long philtrum, Transient ischemic attack, Micrognathia, Hydronephrosis... ORPHA:2995
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Micrognathia... ORPHA:124
Meckel Syndrome
Accessory spleen, Asplenia, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furro... ORPHA:564
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Re... ORPHA:79403
Brachydactyly, Type B1
Hypoplastic sacrum, Ventricular septal defect, Micropenis, Aplasia/Hypoplasia of the distal phala... OMIM:113000
Down Syndrome
Narrow mouth, Open mouth, Protruding tongue, Renal hypoplasia/aplasia, Ventricular septal defect,... ORPHA:870
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Nephronophthisis, Delayed eruption of teeth, Long philtrum, Micromelia... OMIM:184260
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Exaggerated cupid's bow, Ventricular septal defect, Bi... OMIM:618619
Joubert Syndrome 20
Renal cyst OMIM:614970
Fanconi Anemia, Complementation Group S
Dental malocclusion, Thick upper lip vermilion, Macrodontia, Ovarian carcinoma, Microphthalmia, A... OMIM:617883
Meckel Syndrome 14
Microretrognathia, Retrognathia, Micrognathia, Single ventricle, Microphthalmia, Polycystic kidne... OMIM:619879
Combined Immunodeficiency-Enteropathy Spectrum
Type I diabetes mellitus, Jejunoileal ulceration, Intestinal malrotation, Autoimmune hemolytic an... ORPHA:436252
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... OMIM:614823
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Short thumb, Microphthalmia OMIM:609054
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Pulmonary artery hypoplasia, Intestinal malrotation, Protruding t... OMIM:300963
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Abnormality of the dentition, Long philtrum, Ventricular septal defect, Smooth philtrum, Atrial s... ORPHA:261190
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Vesicoureteral reflux, Exaggerated cupid's bow, Ventricular septal d... OMIM:615879
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Hypospadias, Unilateral renal agenesis, Acromesomelia, Duodenal atresia, B... ORPHA:464306
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Cleft upper lip, Supernumerary nipple, Tetralogy o... OMIM:100300
Hydrolethalus Syndrome 1
Accessory spleen, Upper limb undergrowth, Micrognathia, Complete atrioventricular canal defect, V... OMIM:236680
Histiocytoid Cardiomyopathy
Stroke-like episode, Congenital aphakia, Polycystic ovaries, Cardiomegaly, Renal cyst, Ventricula... ORPHA:137675
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal de... OMIM:619909
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Micrognathia, Cryptorchidism, Splenomegaly, Ventricular septal defect, Renal ... OMIM:614866
Holoprosencephaly 3
Bifid uvula, Cleft lip, Malar flattening, Hydronephrosis, Solitary median maxillary central incis... OMIM:142945
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Tessier cleft, Cleft upper lip, Bilateral microphthalmos, Short foot, Cleft ... OMIM:607597
Cousin Syndrome
Mesomelia, Hypoplastic scapulae, Microglossia, Rhizomelia, Fibular aplasia, Micrognathia, Alveola... OMIM:260660
Multiple Benign Circumferential Skin Creases On Limbs
Long philtrum, Micrognathia, Cryptorchidism, Microphthalmia, Hypospadias, Cleft palate ORPHA:2505
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Congenital hypothyroidism, Cryptorchidism, Short ribs, Ventricular septal d... ORPHA:2519
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis, High palate, Cleft palate ORPHA:488613
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Vesicoureteral reflux, Short middle phalanx of the 2... OMIM:619217
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Acrofacial Dysostosis 1, Nager Type
Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Aplasia/Hypoplasia of the ... OMIM:154400
Robinow Syndrome, Autosomal Dominant 1
Small hand, Micrognathia, Short lingual frenulum, Cryptorchidism, Short hard palate, High palate,... OMIM:180700
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Micrognathia, Ventricular septal defect, Short hard palate, Glossop... ORPHA:1393
De Barsy Syndrome
Delayed eruption of teeth, Prominent veins on trunk, Narrow mouth, Cryptorchidism, Ventricular se... ORPHA:2962
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Microphthalmia, Short philtrum, Short foot, Wide mouth, Short palm ORPHA:163966
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Microphthalmia, Micropenis, Cleft pala... OMIM:610125
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Dilated cardiomyopathy, Microphthalmia OMIM:618805
Osteopetrosis With Renal Tubular Acidosis
Tooth malposition, Pancytopenia, Micrognathia, Narrow mouth, Elliptocytosis, Proximal renal tubul... ORPHA:2785
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Micrognathia, Missing ribs, Cleft palate... OMIM:608022
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Small hand, Hypoplasia of the maxilla, Dental... OMIM:257850
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Short distal phalanx of finger, Delayed eruption of teet... OMIM:309350
Lambotte Syndrome
Narrow mouth, Retrognathia, Ventricular septal defect OMIM:245552
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conical tooth, Cleft lip, Hypoplasia of the maxilla, Selective tooth agenesis, Cleft upper lip, W... OMIM:106260
Opitz Gbbb Syndrome
Unilateral cleft lip, Cleft upper lip, Rectourethral fistula, Vesicoureteral reflux, Cryptorchidi... OMIM:300000
Refsum Disease
Cardiomyopathy, Renal insufficiency, Splenomegaly, Microphthalmia, Short metacarpal ORPHA:773
Harrod Syndrome
Multicystic kidney dysplasia, Dental malocclusion, Narrow mouth, Cryptorchidism, High palate, Hyp... ORPHA:2115
Coffin-Siris Syndrome 1
Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Atrial septal defec... OMIM:135900
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... OMIM:603554
Lymphatic Malformation 5
Cleft palate, Hypoplasia of lymphatic vessels OMIM:153200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic hypoplasia, Long philtrum, Elevated circulating thyroid-stimulating hormone concentrat... OMIM:610199
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Cleft lip, Retrognathia, Supernumerary nipple, Exaggerated cupid's bow, Smooth philtrum, Deep phi... OMIM:620098
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Cardiomyopathy, Steatorrhea, Stroke-like episode, Villous atrophy, Proteinu... OMIM:212065
Faciocardiorenal Syndrome
Horseshoe kidney, Endocardial fibroelastosis, Narrow mouth, Tricuspid valve prolapse, Smooth phil... ORPHA:1973
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tet... ORPHA:2847
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... OMIM:602088
Congenital Tracheal Stenosis
Hypoplastic left heart, Meckel diverticulum, Duodenal atresia, Duodenal stenosis, Abnormal stomac... ORPHA:141127
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Mesomelia, Microglossia, Hamartoma of tongue, Intestinal malrotation, Ventricular septal defect, ... OMIM:263520
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Micrognathia, Cryptorchidism, Atrial septal defect, Aplasia/hypoplasia of the femur, Microphthalm... OMIM:609945
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Narrow mouth, Hydronephrosis, Thin upper lip vermilion OMIM:613735
Intellectual Developmental Disorder, Autosomal Dominant 48
Open mouth, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus OMIM:617751
Chops Syndrome
High, narrow palate, Downturned corners of mouth, Long philtrum, Horseshoe kidney, Vesicoureteral... OMIM:616368
Ogden Syndrome
High, narrow palate, Microretrognathia, Everted upper lip vermilion, Cryptorchidism, Ventricular ... ORPHA:276432
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Dentinogenesis imperfecta, Type I diabetes mellitus, Pe... OMIM:619269
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Short femur, Renal agenesis, Lobulated tongue, Cleft upper lip, Hamartoma... OMIM:277170
8Q21.11 Microdeletion Syndrome
Abnormality of the dentition, Downturned corners of mouth, Micrognathia, Narrow mouth, Cryptorchi... ORPHA:284160
Chromosome 8Q21.11 Deletion Syndrome
Downturned corners of mouth, Micrognathia, Cryptorchidism, Exaggerated cupid's bow, Short philtru... OMIM:614230
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Situs inversus totalis, Narrow mouth, Microphthalmia OMIM:614833
Mosaic Trisomy 8
Decreased testicular size, Micrognathia, Vesicoureteral reflux, Patellar aplasia, Cryptorchidism,... ORPHA:96061
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Absent middle phalanx of 5th finger, Hepatosplenomegaly, Micrognathia, High palate, Renal dysplas... OMIM:266920
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Abnormality of the ureter, Neoplasm of the colon, Stomach cancer, Inte... ORPHA:2869
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate, Microphthalmia OMIM:613456
Jansen-De Vries Syndrome
Small hand, Ventricular septal defect, Thin upper lip vermilion, Bicuspid aortic valve, Short foo... OMIM:617450
Sotos Syndrome
High, narrow palate, Narrow palate, Muscular ventricular septal defect, Narrow jaw, Cryptorchidis... OMIM:117550
Tuberous Sclerosis Complex
Chronic kidney disease, Pituitary adenoma, Pheochromocytoma, Cardiac rhabdomyoma, Pulmonary lymph... ORPHA:805
Solitary Median Maxillary Central Incisor
Cleft upper lip, Decreased response to growth hormone stimulation test, Anophthalmia, Prominent m... OMIM:147250
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Zimmermann-Laband Syndrome 1
Short distal phalanx of finger, Mandibular prognathia, Long penis, Aortic root aneurysm, Downturn... OMIM:135500
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th finger, Microglossia, Aplasia of ... ORPHA:364577
Atelosteogenesis Type I
Rhizomelia, Abnormal pancreatic duct morphology, Micrognathia, Limb undergrowth, Multiple renal c... ORPHA:1190
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Tetralogy of Fallot, Mi... ORPHA:306542
Weill-Marchesani Syndrome
Aortic valve stenosis, Short thumb, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Bicuspid ao... OMIM:121050
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Micrognathia, Microphthalmia OMIM:610756
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Micromelia, Long philtrum, Patent foramen ovale, Ventricular septal defect, At... OMIM:618870
Meckel Syndrome, Type 6
Cleft upper lip, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Ren... OMIM:612284
Cystic Echinococcosis
Abnormality of the testis size, Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Splenic c... ORPHA:400
19P13.3 Microduplication Syndrome
Precocious puberty, Micrognathia, Narrow mouth, Ventricular septal defect, Thick vermilion border... ORPHA:447980
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Hypoplasia of teeth, Retrognathia, Ventricular septal defect OMIM:234050
2Q31.1 Microdeletion Syndrome
Downturned corners of mouth, Long philtrum, Micrognathia, Cryptorchidism, Ventricular septal defe... ORPHA:251014
Myhre Syndrome
Aortic valve stenosis, Hypoplasia of the maxilla, Cleft lip, Short toe, Short finger, Narrow mout... OMIM:139210
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Abnormality of... ORPHA:991
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, High palate, Hypoplastic cervical vertebrae, Microphthalmia ORPHA:35173
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Ventricular sep... OMIM:613404
1P36 Deletion Syndrome
Abnormality of the spleen, Narrow mouth, Cryptorchidism, Abnormal intestine morphology, Abnormali... ORPHA:1606
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Codas Syndrome
Hydroureter, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental morpho... ORPHA:1458
Oculodentodigital Dysplasia
Carious teeth, Selective tooth agenesis, Cleft upper lip, Microdontia, Taurodontia, Neurogenic bl... OMIM:164200
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Fibular hypoplasia, Short ribs, Bif... OMIM:613091
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal oral mucosa morphology, Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydrourete... ORPHA:79404
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Left ventricular hypertro... OMIM:615355
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle... OMIM:129900
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Aplasia of the 3rd finger, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Woods Syndrome
Thin vermilion border, Supernumerary nipple, Ventricular septal defect OMIM:615236
Keutel Syndrome
Pulmonary artery stenosis, Short distal phalanx of finger, Recurrent sinusitis, Ventricular septa... ORPHA:85202
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Deep philtrum, Microphthalmia... OMIM:152950
Diamond-Blackfan Anemia 5
Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia... OMIM:612528
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Decreased response to growth hormone stimulation test, Micrognathia, Narrow mouth, Ve... OMIM:614114
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Absent thumb, Hypoplast... OMIM:614083
Loeys-Dietz Syndrome 5
Bifid uvula, Aortic root aneurysm, Retrognathia, Cleft soft palate, Tented upper lip vermilion, P... OMIM:615582
Bohring-Opitz Syndrome
Short toe, Cleft upper lip, Retrognathia, Intestinal malrotation, Supernumerary nipple, Micrognat... OMIM:605039
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Short distal phalanx of finger, Peripheral pulmonary artery s... OMIM:118450
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Micrognathia, Cryptorchidism, Patent foramen ovale, Ventricular septal defe... OMIM:613884
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Micromelia, Hyperechogenic kidneys, Intestinal malrotation, Micrognathia, Short ribs, Thin upper ... OMIM:617866
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Retrognathia, Patent foramen ovale, Ventricular septal defect, Smooth philtrum, Short sternum, Th... OMIM:620113
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Cryptorchidism, Hematuria, Eve... ORPHA:534
Coffin-Siris Syndrome 7
Downturned corners of mouth, Thick lower lip vermilion, Patent foramen ovale, Ventricular septal ... OMIM:618027
Wiedemann-Rautenstrauch Syndrome
Hypoplastic facial bones, Long penis, Secundum atrial septal defect, Downturned corners of mouth,... OMIM:264090
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency,... ORPHA:228308
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Hypothyroidism, Atrial se... ORPHA:3282
Degcags Syndrome
Chronic kidney disease, Hepatosplenomegaly, Micrognathia, Pancytopenia, Protruding tongue, Crypto... OMIM:619488
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short distal phalanx of finger, Recurrent urinary tract infections, Ankylogl... ORPHA:261330
X Small Rings
Aortic root aneurysm, Long philtrum, Upper limb undergrowth, Mitral stenosis, Lower limb undergro... ORPHA:96201
15q26 overgrowth syndrome
Mandibular prognathia, Duplication of renal pelvis, Renal agenesis, Long philtrum, Horseshoe kidn... DECIPHER:81
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst, Carious teeth, Dental malocclusion, Microretrognathia OMIM:615560
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the dentition, Small hand, Dental malocclusion, Dental crowding, Long philtrum, Ag... ORPHA:251028
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Cryptorchidism OMIM:618060
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Wide mouth, Pulmoni... OMIM:615279
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Retrognathia, Pancreatic hypoplasia, Decreased response to growth hormo... OMIM:602782
Cardiofaciocutaneous Syndrome
Hypoplasia of the zygomatic bone, Long philtrum, Hypertrophic cardiomyopathy, Abnormal heart valv... ORPHA:1340
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Rabson-Mendenhall Syndrome
Insulin-resistant diabetes mellitus, Ventricular septal defect, Atrial septal defect, High palate... ORPHA:769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Bile duct proliferation, Cleft palate OMIM:607361
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopat... ORPHA:33001
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Long philtrum, Micrognathia, Cryptorch... ORPHA:261250
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, Retrognathia, Bilateral cryptorchidism, Ventricular septal defect, High palate, Pate... OMIM:300472
Warburg Micro Syndrome 3
Downturned corners of mouth, Decreased testicular size, Micrognathia, Microphthalmia, Micropenis,... OMIM:614222
Msh3-Related Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Re... ORPHA:480536
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Hypogonadism, Anophthalmi... ORPHA:2250
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Nijmegen Breakage Syndrome
Anal stenosis, Cleft upper lip, Recurrent urinary tract infections, Malar prominence, Micrognathi... OMIM:251260
Gracile Bone Dysplasia
Ankyloglossia, Aniridia, Microphthalmia, Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Seckel Syndrome 9
Pulmonary artery hypoplasia, Recurrent urinary tract infections, Micrognathia, Ventricular septal... OMIM:616777
Epidermal Nevus Syndrome
Aortic aneurysm, Polycystic kidney dysplasia ORPHA:35125
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Carious teeth, Grade III vesicoureteral reflux, Cryptorchidism, Ventricular septal defect, Urethr... OMIM:619522
Tuberous Sclerosis 2
Precocious puberty, Adenoma sebaceum, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal ... OMIM:613254
Developmental And Epileptic Encephalopathy 1
Micropenis, Microphthalmia OMIM:308350
Dubowitz Syndrome
Abnormality of the dentition, Anal stenosis, Small hand, Abnormality of neutrophils, Delayed erup... ORPHA:235
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Absent radius, Micrognathia, Narrow mouth, Missing ribs, M... OMIM:251230
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Retrognathia, Long philtrum, Cryptorchidism, Ventricular septal defect, Thin upper lip vermilion,... OMIM:617452
Toriello-Carey Syndrome
Cardiomyopathy, Anteriorly placed anus, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Abnorm... ORPHA:3338
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Abnormality of... ORPHA:2438
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Oroticaciduria, Ventricular septal defect, Hematuria, P... OMIM:258900
Trichothiodystrophy 3, Photosensitive
Carious teeth, Meckel diverticulum, Natal tooth, Bilateral cryptorchidism, Lymphopenia, Neutropen... OMIM:616395
Radio-Tartaglia Syndrome
High, narrow palate, Precocious puberty, Dental crowding, Retrognathia, Long philtrum, Thick verm... OMIM:619312
Chromosome 14Q11-Q22 Deletion Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Long philtrum, Bilateral cryptorc... OMIM:613457
Coffin-Siris Syndrome 4
Short 5th finger, Macroglossia, Everted upper lip vermilion, Long philtrum, Thick lower lip vermi... OMIM:614609
Vacterl With Hydrocephalus
Absence of the sacrum, Renal agenesis, Retrognathia, Micrognathia, Anophthalmia, Cryptorchidism, ... ORPHA:3412
Aase-Smith Syndrome I
Open mouth, Cleft palate, Ventricular septal defect OMIM:147800
Skin Creases, Congenital Symmetric Circumferential, 1
Long philtrum, Micrognathia, Narrow mouth, Hypoplastic nipples, Microphthalmia, High palate, Clef... OMIM:156610
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the dentition, Volvulus, Recurrent urinary tract infections, Thick lower lip vermi... ORPHA:847
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
19P13.12 Microdeletion Syndrome
Precocious puberty, Long philtrum, Cryptorchidism, Ventricular septal defect, Hypodontia, Hypothy... ORPHA:254346
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Abdominal aortic aneurysm, M... OMIM:610168
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Schinzel-Giedion Syndrome
Abnormality of the ureter, Micrognathia, Streak ovary, High palate, Hypospadias, Short 1st metaca... ORPHA:798
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Ventricular se... ORPHA:369929
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Peptic ulcer, Elevated circulating parathyroid hormone level, Renal hamartoma, ... ORPHA:99880
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias, Diabetes mellitus OMIM:605231
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Thick vermilion ... ORPHA:500095
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Micrognathia, Bicuspid aortic valve, Atrial septal defect, Microphthalmia, High palate, Patent du... OMIM:612474
Specc1L-Related Hypertelorism Syndrome
Short toe, Long philtrum, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Advance... ORPHA:1519
Mosaic Trisomy 20
Craniofacial asymmetry, Cleft lip, Retrognathia, Horseshoe kidney, Micrognathia, Cryptorchidism, ... ORPHA:1724
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Median pseudocleft lip, Micrognathia, Cryptorchidism, Ventricular sept... OMIM:616462
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Renal hypoplasia, Carious teeth, Xerostomia, Abnormality of the dentition, Absent th... ORPHA:2363
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Hamartoma of tongue, Short ribs, Atrial septal defect, Micropenis,... OMIM:616546
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Microphtha... OMIM:617914
Ogden Syndrome
Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, Cryptorchidism, Ventricular... OMIM:300855
Townes-Brocks Syndrome
Cryptorchidism, Atrial septal defect, Abnormality of the kidney, Microphthalmia, Rectoperineal fi... ORPHA:857
Myhre Syndrome
Abnormal penis morphology, Bifid uvula, Gingival cleft, Craniofacial hyperostosis, Hypoplasia of ... ORPHA:2588
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Patent foram... OMIM:618748
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Mandibular prognathia, Renal agenesis, Abnorma... ORPHA:93111
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Open mouth, Cryptorchidis... ORPHA:261537
Neurooculorenal Syndrome
Ectopic posterior pituitary, Micrognathia, Cryptorchidism, Mitral valve prolapse, Short hallux, D... OMIM:620305
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, C... OMIM:616564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Microphthalmia... OMIM:253800
Koolen-De Vries Syndrome Due To A Point Mutation
Open mouth, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defec... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Open mouth, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defec... ORPHA:363958
Ohdo Syndrome, X-Linked
Short thumb, Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Cryptorchidism, Micr... OMIM:300895
Frontometaphyseal Dysplasia
Bifid uvula, Short distal phalanx of finger, Short distal phalanx of the thumb, Abnormal heart mo... ORPHA:1826
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Retinal arteriolar occlusion, Microphthalmia OMIM:193220
Campomelic Dysplasia
Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Fibular hypoplasia, Hydronephro... ORPHA:140
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Abnormal renal collecting system morphology, Methylmalonic aciduria, Hyp... ORPHA:17
Parathyroid Carcinoma
Nephrocalcinosis, Peptic ulcer, Elevated circulating parathyroid hormone level, Renal hamartoma, ... ORPHA:143
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal dental pulp morphology, Long philtrum, Abnormal heart morphology, Hypertrophic cardiomyo... ORPHA:363700
Arboleda-Tham Syndrome
Mandibular prognathia, Microretrognathia, Secundum atrial septal defect, Downturned corners of mo... OMIM:616268
Peters-Plus Syndrome
Micrognathia, Short lingual frenulum, Cryptorchidism, Ventricular septal defect, Atrial septal de... OMIM:261540
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Upper limb undergrowth, Tetralogy of Fallot, Int... OMIM:147750
Mowat-Wilson Syndrome
Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Open mouth, Cryptorchidis... ORPHA:2152
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
King-Denborough Syndrome
Bilateral cryptorchidism, Cryptorchidism, Ventricular septal defect, Deep philtrum, High palate OMIM:619542
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Short foot, Polycy... OMIM:210710
Laubry-Pezzi Syndrome
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... ORPHA:99094
Jacobsen Syndrome
Annular pancreas, Micrognathia, Cryptorchidism, Ventricular septal defect, Missing ribs, Macular ... OMIM:147791
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts OMIM:613824
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathi... OMIM:601812
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Noonan Syndrome 2
Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic v... OMIM:605275
19Q13.11 Microdeletion Syndrome
Hypospadias, Retrognathia, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Solit... ORPHA:217346
Mandibulofacial Dysostosis, Guion-Almeida Type
Micrognathia, Malar flattening, Ventricular septal defect, Deep philtrum, Esophageal atresia, Atr... OMIM:610536
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Glossoptosis ORPHA:2031
Granulomatosis With Polyangiitis
Vasculitis, Ureteral stenosis, Renal insufficiency, Intestinal obstruction, Hematuria, Proteinuri... ORPHA:900
Intellectual Developmental Disorder, Autosomal Dominant 47
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Wide mouth, Widely-spaced incisors OMIM:617635
Cerebrooculofacioskeletal Syndrome 4
Abnormal heart morphology, Short philtrum, Micrognathia, Bilateral microphthalmos OMIM:610758
Trisomy 10P
Short toe, Abnormal lip morphology, Retrognathia, Abnormal heart morphology, Micrognathia, Absent... ORPHA:171929
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Retrognathia, Long philtrum, Cryptorchidism, Ventricular septal defect, Thin upper lip vermilion,... ORPHA:505237
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, 11 pairs of ribs, Micrognathia, Cryptorchidism, Ventricular septal defect, Sh... OMIM:620073
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Maturity-onset diabetes of the young, Pa... OMIM:137920
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Neopla... ORPHA:2241
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Precocious puberty, Retrognathia, Increased circulati... ORPHA:438213
Occipital Horn Syndrome
Long philtrum, Ureteral obstruction, Carotid artery tortuosity, Short humerus, Hydronephrosis, Bl... OMIM:304150
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... ORPHA:402075
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Micrognathia, High palate, Peg-shaped max... ORPHA:2751
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Neu-Laxova Syndrome 1
Renal agenesis, Cleft upper lip, Thick lower lip vermilion, Micromelia, Micrognathia, Cryptorchid... OMIM:256520
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Open mouth, Cryptorchidis... ORPHA:261552
Mowat-Wilson Syndrome
Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of teeth, Widely spaced... OMIM:235730
Myoclonic-Astatic Epilepsy
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Microphthalmia, Broad philtru... ORPHA:1942
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Galactosuria, Small hand, Mandibular prognathia, Organic aciduria, Downturned corn... ORPHA:85276
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Orofaciodigital Syndrome Xiv
Cleft lip, Natal tooth, Microretrognathia, Anteriorly placed anus, Hamartoma of tongue, Unilatera... OMIM:615948
Pallister-Hall Syndrome
Natal tooth, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, Ventricular septal d... ORPHA:672
Neurocardiofaciodigital Syndrome
Retrognathia, Tetralogy of Fallot, Vesicoureteral reflux, Atrial septal defect, High palate, Thin... OMIM:619869
Roberts Syndrome
Long penis, Cleft upper lip, Micrognathia, Patellar aplasia, Malar flattening, Cryptorchidism, Ap... ORPHA:3103
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, 11 pairs o... OMIM:620025
Bartsocas-Papas Syndrome 1
Tessier cleft, Anal stenosis, Hypoplastic scapulae, Hypoplasia of the maxilla, Absent thumb, Clef... OMIM:263650
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Type II diabetes mellitus, Cryptorch... ORPHA:110
Cardiospondylocarpofacial Syndrome
Long philtrum, Muscular ventricular septal defect, Horseshoe kidney, Decreased testicular size, V... OMIM:157800
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Tooth malposition, Microspherophakia, Hypoplasia of the maxilla, Abnormal ... OMIM:277600
Holoprosencephaly 9
Hypoplasia of the premaxilla, Anophthalmia, Cryptorchidism, Bilateral cleft palate, Short hard pa... OMIM:610829
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Retrognathia, Atrioventricular canal defect, Micrognathia, Cryptorchidism, Submucous... ORPHA:3047
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatou... OMIM:617100
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Long philtrum, Intestinal malrotation, Narrow mouth, Cryptorchidism, Mitral va... OMIM:601776
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Joubert Syndrome 2
Nephronophthisis, Renal insufficiency, Renal cyst, Microphthalmia, High palate OMIM:608091
Pearson Syndrome
Pancytopenia, Neutropenia, Hypoparathyroidism, Hypoplastic spleen, Abnormal heart morphology, Dec... ORPHA:699
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... ORPHA:99095
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Retrognathia, Gingival overgrow... ORPHA:96191
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Costello Syndrome
Abnormality of the dentition, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Abnormal de... ORPHA:3071
Campomelic Dysplasia
Hypoplastic scapulae, Carious teeth, Short 1st metacarpal, Shortening of all phalanges of the toe... OMIM:114290
Fontaine Progeroid Syndrome
Micrognathia, Narrow mouth, Protruding tongue, Cryptorchidism, Bicuspid aortic valve, Atrial sept... OMIM:612289
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Hepatosplenomegaly, Micrognathia, Narrow mouth, Cryptorchidism... ORPHA:96334
Walker-Warburg Syndrome
Bifid uvula, Anophthalmia, Submucous cleft hard palate, Cryptorchidism, Microphthalmia, Hypoplasi... ORPHA:899
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, Retrognathia, Pancreatic hypoplasia, Micrognathia, Narr... ORPHA:83617
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Adams-Oliver Syndrome 2
Micrognathia, Short middle phalanx of finger, Microphthalmia OMIM:614219
Mody
Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes m... ORPHA:552
Coffin-Siris Syndrome
Short 5th finger, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal heart morphology... ORPHA:1465
Frontorhiny
Hypoplasia of the maxilla, Hypopituitarism, Microphthalmia, Bifid tongue, Diabetes insipidus, Cle... ORPHA:391474
Trichohepatoenteric Syndrome 1
Galactosuria, Bifid uvula, Long philtrum, Tetralogy of Fallot, Renal cortical microcysts, Villous... OMIM:222470
Gm1 Gangliosidosis
Cardiomyopathy, Cherry red spot of the macula, Abnormal heart morphology, Long philtrum, Hepatosp... ORPHA:354
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Ventricular septal defect OMIM:619083
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent left superior ... OMIM:618775
Gabriele-De Vries Syndrome
Abnormality of the dentition, Thick lower lip vermilion, Decreased response to growth hormone sti... ORPHA:506358
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epi... ORPHA:157
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Optic nerve hypoplasia, Cardiomyopathy, Microphthalmia ORPHA:370959
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Hydroureter, Short 1st metacarpal, Ureteral stenosis, Malar flatt... OMIM:269150
D-Bifunctional Protein Deficiency
Retrognathia, Long philtrum, Micrognathia, Primary adrenal insufficiency, Splenomegaly, Renal cys... OMIM:261515
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Abnormality of the dentition, Conical tooth, Hypogonadism, Cryptorchidism, Microphthalmia, Broad ... ORPHA:228390
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Warburg Micro Syndrome 4
Long philtrum, Decreased testicular size, Narrow mouth, Cryptorchidism, Microphthalmia, Micropenis OMIM:615663
Lateral Meningocele Syndrome
High, narrow palate, Craniofacial hyperostosis, Dental crowding, Micrognathia, Malar flattening, ... ORPHA:2789
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Hemiatrophy, Malar flattening, Hydronephrosis, Microphthalmia OMIM:302960
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Carious teeth, Natal tooth, Downturned corners of mouth, Absent nipple, Ankyloglossi... OMIM:620186
Treacher Collins Syndrome 1
Bilateral microphthalmos, Abnormal heart morphology, Cleft soft palate, Narrow mouth, Micrognathi... OMIM:154500
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Tooth malposition, Narrow palate, Microspherophakia, Hypoplasia of the max... OMIM:608328
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Optic ... ORPHA:79345
Kaufman Oculocerebrofacial Syndrome
Carious teeth, Diastema, Intestinal malrotation, Micrognathia, Narrow mouth, Ventricular septal d... OMIM:244450
Acrofrontofacionasal Dysostosis 1
Short distal phalanx of finger, Mandibular prognathia, Cleft upper lip, Malar flattening, Oligodo... OMIM:201180
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Ret... OMIM:615550
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia, Hypogonadism OMIM:615989
Focal Dermal Hypoplasia
Midclavicular aplasia, Supernumerary nipple, Anophthalmia, Cryptorchidism, Microphthalmia, Short ... OMIM:305600
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defe... OMIM:620609
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Severe X-Linked Intellectual Disability, Gustavson Type
Micrognathia, Vesicoureteral reflux, Ventricular septal defect ORPHA:3078
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Biventricular hypertrophy, Patent foramen ovale, Nephrolithiasis, Ventricular septal defect, Decr... OMIM:615474
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Long philtrum, Micrognathia, Cryptorchidism, Ventricular septal defect... ORPHA:261337
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Acrorenal-Mandibular Syndrome
Narrow palate, Hypoplastic scapulae, Absent nipple, Renal agenesis, Rudimentary fibula, Aplasia o... OMIM:200980
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth, Abnormal medullary pyramid morphology, Ventricular septal defect ORPHA:79243
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Dental crowding, Widely spaced teeth, Left ventricular noncompaction, Left v... OMIM:300967
Bosma Arhinia Microphthalmia Syndrome
Cleft lip, Dental malocclusion, Cryptorchidism, Hypoplasia of teeth, Hypogonadotropic hypogonadis... OMIM:603457
Alveolar Echinococcosis
Abnormal pericardium morphology, Hepatic cysts, Abnormal bladder morphology, Renal cyst, Eosinoph... ORPHA:284
Esophageal Atresia
Barrett esophagus, Abnormality of the urinary system, Cleft lip, Renal agenesis, Tetralogy of Fal... ORPHA:1199
Tetraamelia Syndrome 1
Renal agenesis, Cleft upper lip, Micrognathia, Adrenal gland agenesis, Urethral atresia, Micropht... OMIM:273395
Monosomy 22
Retrognathia, Long philtrum, Hepatosplenomegaly, Open mouth, Aplasia of the thymus, Hypochromic m... ORPHA:96123
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Ventricu... ORPHA:1782
Axial Osteomalacia
Renal cyst OMIM:109130
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Cleft upper lip, Cardiac rhabdomyoma, Cardiac fibroma, Short r... OMIM:109400
Frontofacionasal Dysplasia
Tessier cleft, Non-midline cleft of the upper lip, Cleft palate, Microphthalmia ORPHA:1791
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Microdontia, ... OMIM:618727
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Distal shortening of limbs, 11 pairs of ribs, Hypoplasia of the calcaneus, Microphtha... OMIM:300863
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch, Open mouth, Optic nerve hypoplasia ORPHA:457284
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Retrognathia, Open mouth, Exaggerated cupid's bow, Hydronephrosis, Macroglossia ORPHA:254528
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Dark urine, Renal cyst, Steatorrhea, Fat malabsorption ORPHA:79303
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Donnai-Barrow Syndrome
Proteinuria, Intestinal malrotation, Ventricular septal defect ORPHA:2143
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Narrow mouth, Nephroblastoma, Cardiac fibroma, Orofacia... ORPHA:77301
Ciliary Dyskinesia, Primary, 30
Chronic sinusitis, Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Roberts-Sc Phocomelia Syndrome
Hyperplasia of the maxilla, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septa... OMIM:268300
Oeis Complex
Duplicated collecting system, Absence of the sacrum, Hydroureter, Renal agenesis, Duplicated colo... OMIM:258040
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Cardiomyopathy, Abnormal heart morphology, Lacticac... ORPHA:26791
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Retrognathia, Long philtrum, Diastema, Macrodontia, Gingival overgrowth, O... OMIM:212066
Rothmund-Thomson Syndrome, Type 2
Small hand, Mandibular prognathia, Annular pancreas, Delayed eruption of teeth, Anteriorly placed... OMIM:268400
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Garg-Mishra Progeroid Syndrome
Micrognathia, Dental crowding, Microphthalmia OMIM:620601
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Renal hypoplasia, Breast aplasia, Absent hand, Cryptorchidism, Ve... ORPHA:3138
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Polycythemia, Cardiomyopathy, Neoplasm of the pancreas,... ORPHA:892
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatosplenomegaly, Esophagitis, Hydronephrosis, Duplicated collecting system, Diabetes mellitus ORPHA:541423
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid uvula, Aplastic clavicle, Abnormality of the urinary system, Hydroureter, Retrognathia, Mic... ORPHA:2636
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoplasia of the iris, Micrognathia, Renal insufficiency, Pr... OMIM:251300
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Supernumerary nipple, Abnormal heart morphology, Patent foramen ovale, Ventricular... ORPHA:457279
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Tooth malposition, Small hand, Atrial septal defect, High palate, Anal atresia, Short foot, Renal... ORPHA:480880
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Delayed eruption... OMIM:300952
Dubowitz Syndrome
Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Delayed eruption of teeth, Hypoplas... OMIM:223370
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, Microphthalmia, High palate, Abnormality of the hypothalamus-pituit... ORPHA:139471
White-Kernohan Syndrome
Hydroureter, Retrognathia, Anteriorly placed anus, Horseshoe kidney, Tented upper lip vermilion, ... OMIM:619426
Desbuquois Syndrome
Small hand, Ventricular septal defect ORPHA:1425
Erdheim-Chester Disease
Abnormal pericardium morphology, Renal insufficiency, Abnormal aortic valve morphology, Hydroneph... ORPHA:35687
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Beck-Fahrner Syndrome
Long philtrum, Open mouth, Ventricular septal defect, Cardiomegaly, High palate OMIM:618798
Mend Syndrome
Aortic valve stenosis, Asymmetry of the mouth, Abnormal heart morphology, Micrognathia, Cryptorch... ORPHA:401973
Lissencephaly 8
Microphthalmia OMIM:617255
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Aortic root aneurysm, Downturned corners of mouth, Long philtrum, Hypoplasia of proxi... ORPHA:444077
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, M... OMIM:234100
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Micromelia, Long philtrum, Short ribs, Ventricular septal defect, Hypoplasia of the radius OMIM:617895
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Rhizomelia, Micromelia, Long philtrum, Absent pulmonary artery, Hydron... OMIM:610682
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia ORPHA:2788
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Mulberry molar, Microphthalmia, Screwdriver-shaped inc... OMIM:302350
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Small hand, Natal tooth, Micrognathia, Narrow ... ORPHA:2108
Ileal Neuroendocrine Tumor
Increased serum serotonin, Intestinal fistula, Hydronephrosis, Iron deficiency anemia, Lymphadeno... ORPHA:100078
Holoprosencephaly 2
Bifid uvula, Anterior pituitary agenesis, Median cleft palate, Malar flattening, Submucous cleft ... OMIM:157170
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Small hand, Micrognathia, Cryptorchidism, Ventricular septal defect... ORPHA:199
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Increased circulating prolactin concentration, Prominent scalp veins, Increased seru... ORPHA:3455
Knobloch Syndrome 1
Bifid ureter, Renal duplication, Hydronephrosis, Macular hypoplasia, Phthisis bulbi, Duplicated c... OMIM:267750
Donnai-Barrow Syndrome
Hypoplasia of the iris, Intestinal malrotation, Malar flattening, Ventricular septal defect, Prot... OMIM:222448
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Micrognathia, Ventricular septal defect, Atrial septal defe... OMIM:619991
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Bifid uvula, Dental malocclusion, Aortic dissection, Retrognathia, Arterial ... ORPHA:284984
Al-Gazali Syndrome
Hydronephrosis, Micrognathia OMIM:609465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Cooper-Jabs Syndrome
Missing ribs, Malar flattening, Anteriorly placed anus, Ventricular septal defect ORPHA:1488
Distal Deletion 19P
Hypoplasia of the maxilla, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve a... ORPHA:96129
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cryptorchidism, Microphthalmia OMIM:601794
16P13.11 Microdeletion Syndrome
Cleft upper lip, Cryptorchidism, Exaggerated cupid's bow, Ventricular septal defect, Thin upper l... ORPHA:261236
Mesomelia-Synostoses Syndrome
Microretrognathia, Micromelia, Micrognathia, Absent uvula, Hydronephrosis, Short metatarsal, Shor... OMIM:600383
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Hydronephrosis OMIM:619431
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Downturned corners of mouth, Thick upper lip vermilion, Short lingual frenulum, Narrow mouth, Ven... OMIM:617360
Van Esch-O'Driscoll Syndrome
Bifid uvula, Downturned corners of mouth, Retrognathia, Ventricular septal defect, Pulmonary arte... OMIM:301030
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Cryptorchidism, Microphthalmia ORPHA:363741
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Renal hypoplasia, Micromelia, Long philtrum, Cleft upper lip, Micrognathia, Crypto... ORPHA:93271
Otopalatodigital Syndrome, Type Ii
Short thumb, Rudimentary fibula, Micrognathia, Narrow mouth, Malar flattening, Cryptorchidism, Sh... OMIM:304120
Zttk Syndrome
Unilateral renal agenesis, Bifid uvula, Abnormality of the dentition, Small hand, Downturned corn... OMIM:617140
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Megacystis, Congenital hypothyroi... ORPHA:209905
Cockayne Syndrome
Carious teeth, Absence of pubertal development, Cryptorchidism, Delayed eruption of primary teeth... ORPHA:191
Meier-Gorlin Syndrome 7
Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, Vesicoureteral reflux, ... OMIM:617063
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia, Phocomelia ORPHA:3004
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Fibular hypoplasia, Proteinuria, Renal cy... OMIM:208500
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Coronary artery fistula, Cryptorchidism, Ventricular septal defect, At... OMIM:620024
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Cryptorchidism, Ventricular septal defect OMIM:619908
Holoprosencephaly 1
Tessier cleft, Median cleft palate, Microphthalmia, Median cleft upper lip, Adrenal hypoplasia, S... OMIM:236100
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia OMIM:167730
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal hypoplasia, Rectovaginal fistula, Anal stenosis, Duodenal atr... OMIM:107480
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopa... ORPHA:116
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Cleft lip, Myofiber disarray, Patent foramen ovale, Ventricular septal de... OMIM:620519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft upper lip, Micrognathia, Cryptorchidism, Microphthalmia, Buphthalmos, Anal atresia, Renal d... OMIM:236670
Genitopatellar Syndrome
Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bowel, Delayed eruption of teet... OMIM:606170
Joubert Syndrome 21
Hyperechogenic kidneys, Anophthalmia, Chronic sinusitis, Short ribs, Splenomegaly, Renal cyst OMIM:615636
Lymphangioleiomyomatosis
Abnormal urinary color, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Hema... ORPHA:538
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Lip pit, Supernumerary nipple, Abnormal palate morphology, Hypodontia, Microphthal... ORPHA:1236
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Dilated cardiomyopathy, Retrognathia, Hypertrophic cardiomyopathy, Abn... ORPHA:2556
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Osteopetrosis, Autosomal Recessive 8
Anemia, Unilateral microphthalmos, Splenomegaly, Thrombocytopenia OMIM:615085
Larsen Syndrome
Hypoplastic cervical vertebrae, Cleft upper lip, Malar flattening, Cryptorchidism, Ventricular se... OMIM:150250
Myopathy With Extrapyramidal Signs
Splenomegaly, Tented upper lip vermilion, Leukocytosis, Ventricular septal defect OMIM:615673
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Prematur... ORPHA:2710
Filippi Syndrome
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Thin vermilion border, Short phi... ORPHA:3255
Noonan Syndrome 1
High, narrow palate, Dental malocclusion, Juvenile myelomonocytic leukemia, Hypertrophic cardiomy... OMIM:163950
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Renal cortical cysts, Prominent frontal si... ORPHA:79323
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Craniofacial hyperostosis, Abnormal aortic morpho... ORPHA:2396
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Optic disc hypoplasia, Long philtrum, Exaggerated cupid's bow, Ventricular sept... OMIM:619306
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Long philtrum, Decreased response to growth hormone stimulation test, 11 pai... ORPHA:488632
Restrictive Dermopathy
Microcolon, Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Narrow mouth, Submucous... ORPHA:1662
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Tented philtrum, Anteriorly placed anus, Long philtrum, Decreased serum testosterone concentratio... ORPHA:495875
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Marshall-Smith Syndrome
Hypoplasia of the odontoid process, Irregular dentition, Cryptorchidism, Ventricular septal defec... OMIM:602535
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Ureterocele, Micrognathia, Narrow mouth, Cryptorchidism, Microdontia, Thin upper l... OMIM:616734
Monosomy 9P
Abnormality of the dentition, Long philtrum, Micrognathia, Narrow mouth, Ureteropelvic junction o... ORPHA:261112
Orofaciodigital Syndrome Type 14
Microretrognathia, Lobulated tongue, Bilateral cryptorchidism, Hamartoma of tongue, Ventricular s... ORPHA:434179
Johanson-Blizzard Syndrome
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Anal atresia, Rectovaginal fistu... OMIM:243800
Holoprosencephaly 7
Hypoplasia of the premaxilla, Unilateral cleft lip, Bilateral microphthalmos, Panhypopituitarism,... OMIM:610828
Omodysplasia 1
Rhizomelia, Short tibia, Long philtrum, Micrognathia, Malar flattening, Short humerus, Ventricula... OMIM:258315
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Wide mouth, Renal sodium wasting, Hematuria, Pr... OMIM:243910
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Cryptorchidism, Mitral valve prola... OMIM:609942
C Syndrome
Multicystic kidney dysplasia, Micromelia, Long philtrum, Horseshoe kidney, Gingival overgrowth, M... ORPHA:1308
Acrocephalopolydactylous Dysplasia
Micromelia, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hypoplasia of the small intestin... OMIM:200995
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Dental crowding, Downturned corners of mouth, Widely spaced teeth, Splenomegaly, ... OMIM:618268
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Microretrognathia, Long philtrum, Short finger, Dilatation of the ventricu... ORPHA:459070
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Cryptorchidism, Hydronephrosis, Aganglionic megacolon, Anal a... OMIM:236700
Goldberg-Shprintzen Syndrome
Small hand, Hypoplasia of the maxilla, Vesicoureteral reflux, Oligodontia, Ventricular septal def... OMIM:609460
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatou... ORPHA:220460
Den Hoed-De Boer-Voisin Syndrome
Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Re... OMIM:619229
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Orofacial cleft, Ab... ORPHA:1454
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Acute kidney injury, Oliguria, Recurrent urinary tract infections, Fa... ORPHA:731
Chromosome 16P13.3 Duplication Syndrome
Bifid uvula, Short toe, Long philtrum, Short thumb, Tetralogy of Fallot, Micrognathia, Tented upp... OMIM:613458
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/... ORPHA:261265
Sotos Syndrome
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Abnormality of the kidney, Acute... ORPHA:821
Visceral Myopathy 1
Microcolon, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Megaduodenum, Vesicoure... OMIM:155310
Joubert Syndrome 1
Nephropathy, Triangular-shaped open mouth, Protruding tongue, Renal cyst, Macroglossia OMIM:213300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c... OMIM:102700
Joubert Syndrome 39
Hypoplastic left heart, Polycystic kidney dysplasia OMIM:619562
Pelvis-Shoulder Dysplasia
Short clavicles, Hypoplastic scapulae, Microphthalmia OMIM:169550
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral valve prol... OMIM:613795
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Rhizomelia, Long philtrum, Anophthalmia, Microphthalmia, Hypospadias OMIM:615877
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Pallister-Killian Syndrome
Aortic valve stenosis, Small hand, Supernumerary nipple, Micrognathia, Cryptorchidism, Ventricula... OMIM:601803
Branchiooculofacial Syndrome
Abnormality of the dentition, Renal agenesis, Cleft upper lip, Short thumb, Supernumerary nipple,... OMIM:113620
Fraser Syndrome 1
Tessier cleft, Renal hypoplasia, Dental malocclusion, Dental crowding, Cleft upper lip, Bilateral... OMIM:219000
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Ante... OMIM:181450
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Microphthalmia OMIM:612379
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bifid uvula, Long philtrum, Malar flattening, Ventricular septal defect, Hydronephrosis, Thin upp... OMIM:620330
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Type I diabetes mellitus, Tetralogy of Fallot, Ankyloglossia, Microcytic an... OMIM:619525
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Micrognathia, Microphthalmia OMIM:617306
Traboulsi Syndrome
Bifid uvula, Homocystinuria, Dental malocclusion, Retrognathia, Short finger, Malar flattening, M... OMIM:601552
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Fibular aplasia, Micrognathia, Narrow mouth, Cryptor... ORPHA:3404
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Supernumerary nipple, Open mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect... ORPHA:466791
Diets-Jongmans Syndrome
Wide mouth, Cryptorchidism, Ventricular septal defect, Thin upper lip vermilion, Interrupted infe... OMIM:618846
Intellectual Developmental Disorder, Autosomal Dominant 42
Congenital hypothyroidism, Ureteropelvic junction obstruction, Hydronephrosis, Short philtrum, Ne... OMIM:616973
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolit... OMIM:600740
Oculopalatocerebral Syndrome
Cleft palate, Microphthalmia OMIM:257910
Rodrigues Blindness
Tooth malposition, Microphthalmia OMIM:268320
Proteus Syndrome
Long penis, Arteriovenous malformation, Carious teeth, Thymus hyperplasia, Tooth agenesis, Abnorm... ORPHA:744
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Dental crowding, Downturned corners of mouth, Retrognathia, Widely spaced teeth, Vent... OMIM:301044
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... ORPHA:83471
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Renal cortic... OMIM:130650
Spondylocarpotarsal Synostosis Syndrome
Hypoplasia of the odontoid process, Failure of eruption of permanent teeth, Renal cyst, Enamel hy... OMIM:272460
Williams-Beuren Syndrome
Open mouth, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial septa... OMIM:194050
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria, Increased overbite ORPHA:101000
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Small hand, Microphthalmia, Short foot, Cleft palate ORPHA:2714
Chromosome 1P36 Deletion Syndrome, Distal
Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial se... OMIM:607872
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Cryptorchidism, Mitral v... OMIM:616202
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Short ribs, Hydronephrosis, Missing ribs, Urethral atresia, Anal atresia OMIM:271520
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Dilatation of the renal pelvis, Short 5th toe, Cleft soft palate, Cryptorc... ORPHA:268261
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Trichothiodystrophy 1, Photosensitive
Retrognathia, Hypogonadism, Intestinal obstruction, Triangular mouth, Microphthalmia OMIM:601675
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Trichothiodystrophy
High, narrow palate, Carious teeth, Retrognathia, Cardiomyopathy, Bilateral microphthalmos, Incre... ORPHA:33364
Frontonasal Dysplasia 2
Conical tooth, Widely spaced teeth, Bilateral cryptorchidism, Tessier number 13 facial cleft, Mic... OMIM:613451
Aicardi Syndrome
Precocious puberty, Small hand, Cleft upper lip, Intestinal polyposis, Prominence of the premaxil... ORPHA:50
Keutel Syndrome
Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis... OMIM:245150
Incontinentia Pigmenti
Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Breast hypoplasia... OMIM:308300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microretrogn... ORPHA:468631
Mgat2-Cdg
Dental crowding, Abnormal heart morphology, Open mouth, Ventricular septal defect, Hypoplastic ni... ORPHA:79329
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Hyperechogenic kidneys, Twelfth rib hypoplasia, Rhizomelic arm s... ORPHA:397715
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia, Increased mean corpusc... OMIM:619774
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Carpenter Syndrome 2
High, narrow palate, Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Long philtr... OMIM:614976
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Bilateral microphthalmos, Microphthalmia ORPHA:2399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Buphthalmos, Microphthalmia, Macroglossia, Cleft palate OMIM:613150
Microphthalmia, Syndromic 6
Bifid uvula, Renal hypoplasia, Microglossia, Abnormality of the hypothalamus-pituitary axis, Retr... OMIM:607932
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Codas Syndrome
Hypoplasia of the odontoid process, Delayed eruption of teeth, Atrioventricular canal defect, Cry... OMIM:600373
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Downturned corners of mouth, Long philtrum, Renal cortical cysts, Vesicoureteral reflux, Microgna... OMIM:618548
Microphthalmia/Coloboma 12
Optic nerve aplasia, Vesicoureteral reflux, Microphthalmia OMIM:120200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Ventricular se... OMIM:619575
Cockayne Syndrome B
Carious teeth, Dental malocclusion, Hypoplasia of the iris, Renal insufficiency, Cryptorchidism, ... OMIM:133540
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Cleft lip, Short 1st metacarpal, Long philtru... OMIM:620568
Incontinentia Pigmenti
Delayed eruption of teeth, Supernumerary nipple, Abnormal dental enamel morphology, Abnormal dent... ORPHA:464
Witteveen-Kolk Syndrome
Small hand, Male urethral meatus stenosis, Hyperplasia of the maxilla, Narrow mouth, Open mouth, ... OMIM:613406
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Von Hippel-Lindau Syndrome
Polycythemia, Pheochromocytoma, Multiple renal cysts, Paraganglioma, Renal cell carcinoma, Epidid... OMIM:193300
Microphthalmia/Coloboma 9
Long philtrum, Microphthalmia OMIM:615145
Warburg Micro Syndrome 2
Micropenis, Cryptorchidism, Microphthalmia OMIM:614225
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Microretrognathia, Polysplenia, Splenomegaly, Ventricular septal defect, Lympha... OMIM:619418
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Volvulus, Intestinal malrotation, Cryptorchidism, Ventricular septal defect, ... OMIM:616682
Microphthalmia, Syndromic 1
High, narrow palate, Tooth malposition, Renal hypoplasia, Hydroureter, Dental crowding, Cleft upp... OMIM:309800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect ORPHA:254534
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Pierson Syndrome
Hyperechogenic kidneys, Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger anomaly, P... OMIM:609049
Curry-Jones Syndrome
Intestinal malrotation, Microphthalmia ORPHA:1553
Monosomy 22Q13.3
Dental malocclusion, Dental crowding, Recurrent pyelonephritis, Vesicoureteral reflux, Malar flat... ORPHA:48652
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia ORPHA:2717
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Leigh Syndrome
Generalized aminoaciduria, Methylmalonic aciduria, Hypertrophic cardiomyopathy, Renal tubular aci... ORPHA:506
Fraser Syndrome
Anal stenosis, Abnormality of the urinary system, Dental malocclusion, Dental crowding, Cleft upp... ORPHA:2052
Caroli Disease
Cholelithiasis, Leukocytosis, Splenomegaly, Polycystic kidney dysplasia, Esophageal varix ORPHA:53035
Wolf-Hirschhorn Syndrome
Precocious puberty, Craniofacial asymmetry, Malrotation of small bowel, Accessory spleen, Downtur... OMIM:194190
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of the dentition, Microphthalmia ORPHA:1806
Frontofacionasal Dysplasia
Bifid uvula, Hypoplasia of the frontal bone, Cleft upper lip, Malar flattening, Orofacial cleft, ... OMIM:229400
Costello Syndrome
Thick lower lip vermilion, Hypertrophic cardiomyopathy, Micrognathia, Renal insufficiency, Mitral... OMIM:218040
Congenital Disorder Of Glycosylation, Type If
Thin vermilion border, Renal cortical cysts OMIM:609180
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anteriorly placed anus, Patent foramen ovale, Ventricular septal defect, ... ORPHA:26793
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Limb Body Wall Complex
Cleft lip, Abnormal heart morphology, Aplasia of the proximal phalanges of the hand, Aplasia/hypo... ORPHA:2369
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Long philtrum, 11 pairs of ribs, Micrognathia, Malar flattening, Ventricular septal defect, Bicus... OMIM:271640
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Neuroocular Syndrome 1
Short uvula, Downturned corners of mouth, Retrognathia, Widely spaced teeth, Ankyloglossia, Submu... OMIM:619539
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Micrognathia, Thymus hyperplasia OMIM:619036
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Long philtrum, Ventricular septal defect OMIM:123700
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dup... OMIM:607721
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Early Infantile Epileptic Encephalopathy
Precocious puberty, Ureterocele, Short finger, Ventricular septal defect, Micropenis, Renal dyspl... ORPHA:1934
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, High palate, Microphthalmia OMIM:110100
Yunis-Varon Syndrome
Hypoplastic scapulae, Micrognathia, Cryptorchidism, Ventricular septal defect, Absent sternal oss... OMIM:216340
Aicardi Syndrome
Precocious puberty, Cleft upper lip, Prominence of the premaxilla, Hiatus hernia, Missing ribs, M... OMIM:304050
Caroli Syndrome
Hypersplenism, Leukopenia, Leukocytosis, Abnormality of the kidney, Abnormal ductus choledochus m... ORPHA:480520
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia OMIM:248450
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Dental malocclusion, Short finger, Microphthalmia, Short metacarpal OMIM:608940
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Long philtrum, Thick vermilion border, Anophthalmia, Atrial septal defect, Microphthalmia, Leukemia ORPHA:2526
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Oculoauricular Syndrome
Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia, Short mandibular rami OMIM:612109
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Short ribs, Ventricular septal defect OMIM:615503
Eisenmenger Syndrome
Bacterial endocarditis, Increased mean corpuscular volume, Abnormal heart morphology, Tetralogy o... ORPHA:97214
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retrognathia, Microphthalmia OMIM:614643
Isolated Arrhinia
Tessier cleft, Hypoplasia of the nasal bone, Microphthalmia ORPHA:1134
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cleft palate, Ventricular septal defect OMIM:178110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Decreased testicular size, 11 pairs of ribs, Hydronephrosis, Microp... OMIM:615287
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Rhizomelia, Short distal phalanx of finger, Delay... OMIM:143095
Curry-Jones Syndrome
Anal stenosis, Lip pit, Intestinal pseudo-obstruction, Intestinal malrotation, Microphthalmia OMIM:601707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Short uvula, Dilatation of the cerebral artery, Ankyloglossia, Ventricular s... OMIM:619475
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Craniotubular Dysplasia, Ikegawa Type
Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Ventricular septal defect, P... OMIM:619727
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Patent ductus arteriosus, Atrial septal defect, Ectopic anterior pituitary gland, Ventricular sep... OMIM:620558
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
High palate, Open mouth, Ventricular septal defect OMIM:614653
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Bilateral microphthalmos, Decreased testicular size, Persistence of primary teeth,... ORPHA:93325
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Abnormal dental enamel morphology, Cryptorchidism, Hydronephrosis, Abnormality of th... ORPHA:2273
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Rhizomelia, Short metacarpal, Microphthalmia ORPHA:85167
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Ventricular septal defect OMIM:259770
Norrie Disease
Hypoplasia of the iris, Malar flattening, Cryptorchidism, Venous insufficiency, Delayed puberty, ... ORPHA:649
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Microphthalmia OMIM:610651
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Pmm2-Cdg
Increased circulating prolactin concentration, Hyperinsulinemia, Aplasia of the ovary, Impaired n... ORPHA:79318
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Small hand, Ventricular septal defect OMIM:614947
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Cryptorchidism, Aganglio... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Malar flattening, Hypoplasia of the retina, Everted lower lip vermilion, Microphtha... OMIM:253280
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Micrognathia, Microphthalmia ORPHA:1587
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Hypoplasia of the iris, Retinal arteriolar tortuosity, Cerebral... OMIM:175780
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Anemia, Microphthalmia OMIM:127000
Linear Nevus Sebaceus Syndrome
Adenoma sebaceum, Microphthalmia ORPHA:2612

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pigv

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pigv.

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

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MGI Allele Allele Type Produced
Pigvtm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pigvtm445949(L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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