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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
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Supernumerary nipple, M... ORPHA:247262
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... 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
Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ... OMIM:231060
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Skraban-Deardorff Syndrome
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid... OMIM:617616
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, ... ORPHA:1166
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
8P23.1 Duplication Syndrome
Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmonic stenosis, Long... ORPHA:251076
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Micrognathia, Cryptorchidism, Patent ductus arteriosu... ORPHA:3304
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... OMIM:618845
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:601927
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Microphthalmia, Syndromic 9
Anophthalmia, Micrognathia, Atrial septal defect, Pulmonary artery atresia, Pelvic kidney, Single... OMIM:601186
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Cleft palate, Upper limb phocomelia, Abnormal heart morphology, Abnormal cardiac ... ORPHA:294975
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis OMIM:261800
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Micrognathia, ... OMIM:179613
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturn... ORPHA:1110
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Cryptorc... ORPHA:1926
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cle... ORPHA:3434
22Q11.2 Duplication Syndrome
Ventricular septal defect, Micrognathia, Urethral stenosis, Cleft palate, Hydronephrosis, Hypopla... ORPHA:1727
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abn... ORPHA:477817
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm... OMIM:192430
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow palate, Macroglos... OMIM:617022
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... OMIM:300845
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... OMIM:615297
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... OMIM:617478
Gombo Syndrome
Microphthalmia, Delayed puberty, Abnormal heart morphology OMIM:233270
Kallmann Syndrome-Heart Disease Syndrome
Short lingual frenulum, Hypogonadotropic hypogonadism, Renal agenesis, Anomalous origin of left c... ORPHA:2326
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Micrognathia, Cryptorchidism, Hy... OMIM:615524
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter OMIM:617577
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Hypoplasti... ORPHA:3316
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat... ORPHA:3426
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Megabladder, Congenital
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... OMIM:618719
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect, Abnormally large globe OMIM:603387
Phenobarbital Embryopathy
Mandibular prognathia, Hypospadias, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal... ORPHA:1919
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis ORPHA:3033
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cleft lip, Abse... ORPHA:3186
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Renal agenesis, Micrognathia, Renal hypoplasia/aplasia, High, narrow p... ORPHA:2516
You-Hoover-Fong Syndrome
Accessory oral frenulum, Cleft palate, Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... OMIM:615996
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... OMIM:604381
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Tetrasomy 15Q26
Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High pala... OMIM:614846
Fryns Syndrome
Tented upper lip vermilion, Micrognathia, Abnormal aortic arch morphology, High palate, Vesicoure... ORPHA:2059
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Ventricular septal defect, Unilateral renal agenesis, High, narrow pala... OMIM:618494
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Cat Eye Syndrome
Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total anomal... OMIM:115470
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta, Short 5th metaca... ORPHA:228190
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Micrognat... OMIM:612561
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Exaggerated cupid's bow, Micrognathia, Deep philtrum, Patent ductus ar... ORPHA:261120
Tetraploidy
Micrognathia, Renal hypoplasia/aplasia, Cleft palate, Hydronephrosis, Short philtrum, Aplasia/Hyp... ORPHA:3305
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
2p15-16.1 microdeletion syndrome
Optic disc hypoplasia, Hydronephrosis DECIPHER:70
RCAD (renal cysts and diabetes)
Diabetes mellitus, Multiple renal cysts DECIPHER:47
Nemaline Myopathy 9
High palate, Ventricular septal defect, Cleft palate, Micrognathia OMIM:615731
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Maternal Phenylketonuria
Ventricular septal defect, Micrognathia, Esophageal atresia, Abnormal renal morphology, Abnormal ... ORPHA:2209
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic aneurysm, Asplen... OMIM:619657
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system, Bifid uvula ORPHA:2669
Verheij Syndrome
Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Renal agenesis, Rena... OMIM:615583
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Micrognathia, Patent du... ORPHA:2547
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Truncus arteriosus, Short dis... OMIM:601355
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Parachute mitral va... OMIM:618316
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cryptorchidism, Anal atresia, T... ORPHA:1381
Trisomy 13
Anophthalmia, Ventricular septal defect, Median cleft lip, Displacement of the urethral meatus, A... ORPHA:3378
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, Micrognathia, Secundum atria... OMIM:214800
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Cleft palate, Anteriorly placed anus, C... OMIM:309801
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... OMIM:270100
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis, Abnormal palate morphology ORPHA:1450
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Holzgreve Syndrome
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hypoplastic left heart OMIM:236110
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... OMIM:306955
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Cleft p... OMIM:602418
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
Temtamy Syndrome
Micrognathia, Short toe, Thick lower lip vermilion, Microphthalmia, Abnormal palate morphology, A... ORPHA:1777
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo... ORPHA:2473
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pul... OMIM:618021
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, Renal hypoplasia, ... OMIM:612946
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... OMIM:616145
Catel-Manzke Syndrome
Ventricular septal defect, Micrognathia, Cleft palate, Glossoptosis, Atrial septal defect, Malar ... ORPHA:1388
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Inte... ORPHA:2970
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Ectopic kidney, Shor... ORPHA:401935
Apert Syndrome
Delayed eruption of teeth, Mandibular prognathia, Overriding aorta, Ventricular septal defect, Es... OMIM:101200
Trisomy 17P
Hypoplasia of penis, Urethral valve, Micrognathia, Patent ductus arteriosus, Urethral stenosis, O... ORPHA:261290
Joubert Syndrome 18
Ventricular septal defect, Renal cyst, Cleft palate, Horseshoe kidney, Lobulated tongue, Retrogna... OMIM:614815
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol... ORPHA:449400
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Cryptorchidism, Rectal atresia, Hypoplasia of the radius, Stage 5 chro... OMIM:613390
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Micrognathia, Minimal change... OMIM:616730
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cleft palate, Micrognathia OMIM:616570
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Pericardial effusion, Cleft palate, Polycystic kidney dysplasia, M... OMIM:613885
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, High palate, Narrow mouth, Microphthalmia, Retrognathia ORPHA:2528
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Fetal Trimethadione Syndrome
Ventricular septal defect, Hypospadias, Micrognathia, High palate, Transposition of the great art... ORPHA:1913
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias, Cry... OMIM:301056
Distal Triplication 15Q
Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Dilat... ORPHA:314588
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormality of the philtrum, Hypospadias, Abnormality of the dentition, Tetral... ORPHA:276422
3C Syndrome
Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, High, narrow palate, Orofacial cleft, Abno... ORPHA:7
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... OMIM:605376
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic renal dysplasia OMIM:613730
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Re... OMIM:615993
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Micrognathia, D... OMIM:609757
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr... OMIM:608227
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydronephrosis, Abnormal palate morphology ORPHA:251046
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pulmonic stenos... OMIM:249670
Feingold Syndrome Type 1
Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Nephritis, Abnormali... ORPHA:391641
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Micrognathia, Renal hypopla... ORPHA:2863
Tetralogy Of Fallot
Cryptorchidism, Thin vermilion border, Tetralogy of Fallot ORPHA:3303
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Cryptorchidism, Patent ductus arteriosus, Thick lower lip vermilion, W... OMIM:619797
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neut... OMIM:617056
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Absent radius, Esophageal atresia, Tracheoesophageal fistula, Enlarg... OMIM:314390
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm,... OMIM:616652
Cardiac Valvular Dysplasia 1
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... OMIM:212093
Fetal Encasement Syndrome
Upper limb undergrowth, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Low... OMIM:613630
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Neu... OMIM:612541
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Atrial septal defect, Vesicoureteral reflux, Hypospadias,... ORPHA:353281
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palat... OMIM:188400
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Treacher-Collins Syndrome
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplas... ORPHA:861
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Trisomy 1Q
Microretrognathia, Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Cryptor... ORPHA:261344
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... ORPHA:94066
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... ORPHA:1354
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava... OMIM:613759
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Hydronephrosis, Anal a... ORPHA:195
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Suleiman-El-Hattab Syndrome
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Thick low... OMIM:618950
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia, Cleft palate, Cleft upper lip OMIM:120433
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, High, narrow palat... OMIM:180849
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Cleft palate, Malar flattening, Truncus arteriosus, Smooth philtrum OMIM:611867
Hypoplastic Left Heart Syndrome
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... ORPHA:2248
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Micro... OMIM:301043
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn... OMIM:613680
Distal Deletion 15Q
Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Short philtrum, Micropenis,... ORPHA:1596
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Re... ORPHA:261494
Fetal Minoxidil Syndrome
Cryptorchidism, Ventricular septal defect, Micrognathia ORPHA:1918
Xk Aprosencephaly Syndrome
Ventricular septal defect, Narrow mouth, Atrial septal defect, Microphthalmia, Anal atresia ORPHA:3469
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Cleft palate, Coarct... OMIM:620210
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Li-Campeau Syndrome
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Cryptorchidism, Patellar hyp... OMIM:619189
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C... ORPHA:457193
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Atri... OMIM:265380
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Down... OMIM:618652
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Ventricular septal d... OMIM:220500
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... OMIM:618142
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total... ORPHA:244
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Autosomal Recessive Amelia
Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Abnorm... ORPHA:1027
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio... ORPHA:2306
Nanophthalmos 2
Microphthalmia OMIM:609549
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Hypospadias, Micrognathi... OMIM:300712
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... ORPHA:95430
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequ... OMIM:619980
Isolated Polycystic Liver Disease
Multiple renal cysts, Vascular dilatation ORPHA:2924
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spaced maxillary... OMIM:136760
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Thick up... OMIM:619717
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... OMIM:601349
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Long philtrum, Atrial septal defect, Microphthalmia, Tetralogy of Fallot OMIM:300887
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Ventricular septal defect, Thyroid lymphangiectasia, Micrognathia, Panc... OMIM:235255
Peroxisome Biogenesis Disorder 2A (Zellweger)
Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Aminoaciduria, Hypoplasia ... OMIM:214110
Say Syndrome
Micrognathia, Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia, Short distal... OMIM:181180
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... ORPHA:904
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Multicystic kidney dysplasia, Abnormal palate morphology, Abnormality of the denti... ORPHA:3270
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata... OMIM:611773
Meckel Syndrome, Type 4
Ventricular septal defect, Cleft palate, Renal cyst, Bile duct proliferation, Atrial septal defec... OMIM:611134
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Congenital Myopathy 19
Micrognathia, Cryptorchidism, Renal atrophy, High palate, Hydronephrosis OMIM:618578
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Abnormality of the dentition, Cryptorchidism, Renal cyst, Hypogonadism OMIM:615982
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormally large globe, Micrognathia, Pancre... ORPHA:1655
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Intestinal malrotation, Abnormal... ORPHA:2712
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Congeni... ORPHA:435638
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Patent ductus arteriosus, Renal tubular dysfunction, Atrial septal ... OMIM:614886
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,... ORPHA:2328
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, In... ORPHA:99776
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Micrognathia OMIM:607598
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Unilateral renal agenesis, Cleft upper lip, Mic... OMIM:608572
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Patent ductus arteriosus, Xerostomia, Congenital posterior urethral ... OMIM:100100
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney... OMIM:173900
Craniofacial Microsomia 1
Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Vesicoureteral reflux, Ver... OMIM:164210
Adams-Oliver Syndrome 6
Ventricular septal defect, Splenomegaly, Esophageal varix, Renal hypoplasia, Foot oligodactyly, T... OMIM:616589
Zaki Syndrome
Renal agenesis, Micrognathia, Patent ductus arteriosus, Wide mouth, Median pseudocleft lip, High ... OMIM:619648
Syndromic Diarrhea
Lymphopenia, Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Gastritis, Increa... ORPHA:84064
Methimazole Embryofetopathy
Ventricular septal defect, Hypospadias, Abnormality of the thyroid gland, Esophageal atresia, Tra... ORPHA:1923
Carpenter Syndrome 1
Hydroureter, Ventricular septal defect, Persistence of primary teeth, Micrognathia, Hypoplasia of... OMIM:201000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Micrognathia, Precocious puberty, High, narrow palate, Cryptorchidism, Abnormality ... ORPHA:96092
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Short ... OMIM:235510
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Adrenal hypoplasia, Micrognathia, Pyloric... OMIM:613177
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:616622
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Vesicour... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Vesicour... ORPHA:353277
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve prolapse, Coa... ORPHA:371428
Orofaciodigital Syndrome Xvii
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Retrognathia, Rena... OMIM:617926
Noonan Syndrome 12
11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st... OMIM:618624
Congenital Rubella Syndrome
Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Aplasia/Hypo... ORPHA:290
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... ORPHA:980
Pierpont Syndrome
Smooth philtrum, Cryptorchidism, Short toe, Micropenis, Prominent median palatal raphe, Short foo... OMIM:602342
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Conotruncal defect, Micrognathia OMIM:243440
Orofaciodigital Syndrome Type 5
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... ORPHA:2919
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion bord... OMIM:615502
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hypoplasia of the iris, Subvalvular aortic stenosis, A... OMIM:613001
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Micrognathia, Minimal change... OMIM:618348
Feingold Syndrome Type 2
Short middle phalanx of finger, Jejunal atresia, Short thumb, Ventricular septal defect ORPHA:391646
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal aortic arch morphology, Short philtrum, Hypoplasia of the thymus, Atrial s... ORPHA:567
Tarp Syndrome
Meckel diverticulum, Micrognathia, Hypoplasia of the radius, Subdural hemorrhage, Cleft palate, T... OMIM:311900
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Short middle phal... OMIM:614326
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Oligo... OMIM:618330
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cleft upper lip, R... OMIM:264480
Mosaic Trisomy 1
Microretrognathia, Ventricular septal defect, Thick lower lip vermilion, Cleft palate, Orofacial ... ORPHA:1692
Stankiewicz-Isidor Syndrome
Ureteral duplication, Ventricular septal defect, Hypospadias, Micrognathia, Absent thumb, Short t... OMIM:617516
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... OMIM:243150
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Gaucher Disease, Type Ii
Double aortic arch, Trismus, Thrombocytopenia, Splenomegaly, Anemia OMIM:230900
Robinow Syndrome
Dental crowding, Micrognathia, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, We... ORPHA:97360
Seckel Syndrome 2
Hypospadias, Micrognathia, Ectopic kidney, Microdontia, Microphthalmia, Microglossia OMIM:606744
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... OMIM:613496
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Ventricular septal defect, Hypospadias, Cleft palate, Furrowed tongue... OMIM:616449
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Image Syndrome
Hypospadias, Adrenal hypoplasia, Micromelia, Cryptorchidism, Hypogonadism, Hydronephrosis ORPHA:85173
Acrorenal Syndrome
Renal insufficiency, Renal hypoplasia/aplasia, Micrognathia, Abnormal renal morphology, Cleft pal... ORPHA:971
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the gingiva,... ORPHA:513456
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Esop... ORPHA:77298
Chime Syndrome
Short palm, Ventricular septal defect, Abnormal dental morphology, Aplastic clavicle, Abnormality... ORPHA:3474
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Short palm ORPHA:79094
Transketolase Deficiency
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... ORPHA:488618
Joubert Syndrome 14
Tented upper lip vermilion, Ventricular septal defect, Cleft palate, Renal cyst, Intracranial hem... OMIM:614424
Monosomy 18Q
Mandibular prognathia, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic... ORPHA:1600
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Rhizomelia, Micrognathia, Downturned corners of mouth, Short philtrum,... ORPHA:93267
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... ORPHA:3405
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Rena... ORPHA:1335
Facial Clefting, Oblique, 1
Microphthalmia, Cleft palate, Cleft upper lip OMIM:600251
Down Syndrome
Short palm, Atrial septal defect, Atrioventricular canal defect, Hypothyroidism, Patent foramen o... OMIM:190685
Cerebrocostomandibular Syndrome
Micrognathia, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, High palate, Atri... OMIM:117650
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Nephroblastoma, Microphthalmia, Leukemia, Smooth philtrum OMIM:602501
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Bicuspid aortic valve, Cleft upper lip, Cryptorchidism, Patent ductus a... OMIM:243310
Pierpont Syndrome
Smooth philtrum, Thin upper lip vermilion, Cryptorchidism, Short toe, Thin vermilion border, Wide... ORPHA:487825
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomegaly, Micrognath... OMIM:614921
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Short philtrum, Widely spaced teeth, Cleft lip, Pulmonary artery stenosis, Acute lymphoblastic le... OMIM:280000
Distal Duplication 6P
Micrognathia, Renal hypoplasia, Thin vermilion border, Abnormality of the urinary system, Narrow ... ORPHA:1745
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft OMIM:611638
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... ORPHA:3097
Thakker-Donnai Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal f... ORPHA:1780
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Hypospadias, Cardiomegaly, Micrognathia, Cleft palate, Mi... OMIM:616897
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Tongue fasciculations OMIM:253300
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Vesicoureteral reflux, Atrial septal defect, Hypoplasia of the ulna, Short... OMIM:607323
Meckel Syndrome, Type 5
Cleft upper lip, Renal cyst, Cleft palate, Bile duct proliferation, Microphthalmia OMIM:611561
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Short foot, Abnormal cardiac septum morphology, High pa... ORPHA:250989
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia, Thrombocytopenia OMIM:619981
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's... ORPHA:464738
Microphthalmia, Syndromic 2
Anophthalmia, Oligodontia, Fused teeth, Atrial septal defect, Hypothyroidism, Bifid uvula, Hyposp... OMIM:300166
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Cryptorchidism, Inc... OMIM:618504
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... ORPHA:1507
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, A... ORPHA:2001
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Micrognathia, Bladder ... OMIM:614080
8Q12 Microduplication Syndrome
Ventricular septal defect, Narrow mouth, Vesicoureteral reflux, Short foot, Everted lower lip ver... ORPHA:228399
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Rhizomelia, Hamartoma of tongue, Cleft lip, Patent ductus arterio... OMIM:616300
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... OMIM:609053
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Hypospadias, Cryptorchidism, Deep philtrum, Patent ductus arteriosus, ... ORPHA:163956
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormally large globe, Secundum atrial sept... OMIM:249420
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Opitz Gbbb Syndrome
Micrognathia, High palate, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Enl... ORPHA:2745
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Abnormality of the spleen, Atrial septal defect, Phocomelia, Microgastria, Multicys... ORPHA:2538
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... ORPHA:2791
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Wolcott-Rallison Syndrome
Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney disease, Centra... ORPHA:1667
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Maternal diabetes, Micrognathia, Renal hypoplasia/aplasia,... ORPHA:1988
Recombinant 8 Syndrome
Ventricular septal defect, Abnormality of the kidney, Cleft upper lip, Abnormality of the dentiti... ORPHA:96167
Developmental Delay With Or Without Dysmorphic Facies And Autism
Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Micrognathia, Cleft li... OMIM:618454
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Short ribs, Preductal coarctation of the aorta, Malar flattening OMIM:215045
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... OMIM:132900
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Abnormal cardi... ORPHA:3079
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Asplenia, Enlarged kidney, Aortic valve stenosis, Pul... OMIM:615415
Koolen-De Vries Syndrome
Ureteral duplication, Bicuspid aortic valve, Abnormal dental enamel morphology, Hypospadias, Abno... ORPHA:96169
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Abnormal localization of kidney, N... ORPHA:83473
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... OMIM:222300
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtr... OMIM:615398
Temtamy Syndrome
Dental crowding, Micrognathia, Hypoplasia of teeth, Short 2nd toe, Long philtrum, Microphthalmia,... OMIM:218340
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Abnormality of the dentition, Micrognathia, Cryptorchidism, P... OMIM:617557
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... ORPHA:229
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... OMIM:600987
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Short thumb, Patent ductus ar... OMIM:244300
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Microphthalmia, Smooth... OMIM:614526
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Crypto... ORPHA:404440
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Micrognathia, Cleft palate, Vesicoureteral reflux, Retrognathia, Hydronephrosis OMIM:618265
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Pierre-Robin sequence, Downturned corners of mouth, Left supe... OMIM:611961
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus... OMIM:600460
Marden-Walker Syndrome
Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, H... ORPHA:2461
German Syndrome
Micrognathia, Cryptorchidism, Orofacial cleft, Abnormal cardiac septum morphology, Everted lower ... ORPHA:2077
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... OMIM:617666
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Cryptorchidism, Non-midline cleft lip, C... ORPHA:2075
Kury-Isidor Syndrome
Tented upper lip vermilion, Ventricular septal defect, High palate, Widely spaced teeth, Long phi... OMIM:619762
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Short metacarpal, Ventricular septal defect, Micrognathia, Abnormality of the endocrine system, C... ORPHA:166035
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Maternal diabetes, Distal urethral duplication, Renal hypoplasia... ORPHA:2549
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Emanuel Syndrome
Dental crowding, Micrognathia, High palate, Atrial septal defect, Micropenis, Cryptorchidism, Pat... OMIM:609029
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, High, narrow palate, Cleft palate, Horseshoe kidney... OMIM:272950
Heart And Brain Malformation Syndrome
Ventricular septal defect, Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted low... OMIM:616920
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Unilateral renal agenesis, Precocious puberty, Cryptorchidism, High pa... ORPHA:3306
2Q24 Microdeletion Syndrome
Microphthalmia, Abnormal oral frenulum morphology, Short philtrum, Cleft palate ORPHA:1617
Orofaciodigital Syndrome Xv
Lobulated tongue, Hydronephrosis, Midline notch of upper alveolar ridge OMIM:617127
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Hypospadias, Micromelia, Short uvula, Renal hypopla... OMIM:614091
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Abn... ORPHA:2315
Kabuki Syndrome
Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Abnormal den... ORPHA:2322
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial ... OMIM:241310
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Missing ribs, Abnormality of the spleen, Renal hypoplasia/aplasia, Abnormality of t... ORPHA:1834
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Pa... OMIM:617159
Cofs Syndrome
Hypogonadism, Microphthalmia, Everted lower lip vermilion, Micrognathia ORPHA:1466
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Sho... ORPHA:2496
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tented upper lip vermilion, Patent ductus arteriosus after premature birth,... OMIM:618460
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico... ORPHA:107
Congenital Disorder Of Glycosylation, Type Iig
Micrognathia, Glossoptosis, High palate, Rhizomelia, Hypospadias, Hemolytic-uremic syndrome, Cryp... OMIM:611209
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Microdontia, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teeth,... ORPHA:2728
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ... OMIM:612562
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, High palate, Hydronephrosis ORPHA:85285
Giant Cell Arteritis
Pericarditis, Renal insufficiency, Diabetes insipidus, Mediastinal lymphadenopathy, Vasculitis, H... ORPHA:397
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, High, narrow pa... OMIM:619472
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Malabsorption, Micrognathia, Aplasia/Hypoplasia of the patella, ... ORPHA:1225
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham... OMIM:174300
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Thin upper lip vermilion, Dental crowding, Short toe, Pierre-Robin sequence, An... OMIM:617877
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Ectopic kidney, Tracheoesophageal fistula, Orofacial cle... ORPHA:268249
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect OMIM:614876
Diaphanospondylodysostosis
Multiple renal cysts, Cleft palate, Missing ribs ORPHA:66637
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
8P23.1 Microdeletion Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, H... ORPHA:251071
Tarp Syndrome
Extramedullary hematopoiesis, Micrognathia, Cryptorchidism, Pierre-Robin sequence, Alveolar ridge... ORPHA:2886
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus, Aplasi... ORPHA:3320
Toluene Embryopathy
Micrognathia, Cryptorchidism, Abnormal localization of kidney, Thin vermilion border, Hypoplasia ... ORPHA:1920
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi... ORPHA:1908
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Rena... ORPHA:75389
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst OMIM:263630
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Cleft upper... OMIM:610443
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal bladder morphology, Cryptorchidism, Ve... ORPHA:453499
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Ventricular septal defect, Aplasia/Hypoplasia of the... ORPHA:2256
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Optic disc hypoplasia, Aplastic anemia, Absent thumb, Hypergonadotropi... OMIM:300514
Zellweger Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Malabsorption, Micrognathia... ORPHA:912
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Cleft upper lip, Micrognathia, Patent ductus arteriosus, Cleft palate,... OMIM:153400
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum ORPHA:398156
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Patent ductus a... OMIM:603467
Coach Syndrome 1
Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Esophageal varix, ... OMIM:216360
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hypospadias, Pyloric stenosis, Patent ductus arteriosus, Cryptorchidis... OMIM:218350
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Hypertrophy of the urinary bladder, High palate, Atrial septal defect... ORPHA:280633
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Abnormal cardiac septum morph... ORPHA:2484
Lambert Syndrome
Wide mouth, Malar flattening, Ventricular septal defect, Hypospadias ORPHA:1296
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Renal hypoplasia, Cleft palate, High palate, Narrow... OMIM:246560
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Cleft upper lip, Deep philtrum, Hand oligodactyly, Cleft... OMIM:206920
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Micrognathia, Bilateral cleft lip and palate, Thin vermilion border... OMIM:618829
Fetal Alcohol Syndrome
Thin upper lip vermilion, Microdontia, Micrognathia, Non-midline cleft lip, Cleft palate, Atrial ... ORPHA:1915
Noonan Syndrome 4
Ureteral duplication, Ventricular septal defect, Cryptorchidism, Dental malocclusion, Wide mouth,... OMIM:610733
Subaortic Stenosis-Short Stature Syndrome
Micrognathia, Membranous subvalvular aortic stenosis, Type II diabetes mellitus, Subvalvular aort... ORPHA:3191
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ... ORPHA:139466
Noonan Syndrome 9
Hydroureter, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis OMIM:616559
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia, High palate, Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Atrial septal defect, Pancreatic hypoplasia, Patent foramen ovale, Hypoplas... OMIM:600001
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... OMIM:616276
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Micrognathia, High, narrow palate, Pyloric stenosis, Cryptorchidism, R... OMIM:248700
Hydrolethalus
Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Submucous cleft hard palate, Gingival cle... ORPHA:2189
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Micrognathia, Lens coloboma, Renal hypoplasia, Pulmonic stenosis, Micropht... OMIM:618914
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Takenouchi-Kosaki Syndrome
Thin upper lip vermilion, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis,... OMIM:616737
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Neutropenia, Diabetes... OMIM:598500
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchid... ORPHA:163979
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Ana... OMIM:619318
Czeizel-Losonci Syndrome
Dextrocardia, Micrognathia, Tracheoesophageal fistula, Ureteral agenesis, Congenital megaureter, ... ORPHA:2437
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... OMIM:619148
Hypoglossia With Situs Inversus
Micrognathia, Situs inversus totalis, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mout... OMIM:612776
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Cleft lip, Deep philtrum, Cleft palate, Abnormal heart morphology, Downturned ... OMIM:618571
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Micrognathia, Malabsorptio... ORPHA:452
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Hypospadias, Abnormal dental enamel morphology, Decreased respon... ORPHA:1896
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Ventricular septal defect, Hypospadias, Renal agenesis, Protruding tongue,... OMIM:301040
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the sc... ORPHA:2839
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruption of permanent tee... OMIM:618506
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Hydronephrosis, Anal atresia OMIM:235760
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Micrognathia, Cryptorchidism, Dental malocclusion, Alveolar ridge over... ORPHA:444072
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Orofaciodigital Syndrome Type 1
Micrognathia, Lobulated tongue, High palate, Multicystic kidney dysplasia, Abnormal dental enamel... ORPHA:2750
Immunodeficiency 9
Stomatitis, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Amelogenesis imperfecta OMIM:612782
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts... OMIM:267010
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... OMIM:249270
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Hepatosplenomegaly, Wide mouth, Abnormal cardiac septum morphology, Polycys... OMIM:608776
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Nephrogenic rest, ... OMIM:267000
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Smooth philtrum, Renal dysplasia, Abnormality of thyroid physiology, Abnormality of the dentition... OMIM:300968
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricular septal defect, Hi... OMIM:618804
Char Syndrome
Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti... ORPHA:46627
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar... OMIM:219730
Hardikar Syndrome
Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, Cleft soft ... OMIM:301068
Transaldolase Deficiency
Pancytopenia, Ventricular septal defect, Thrombocytopenia, Deep philtrum, Patent ductus arteriosu... OMIM:606003
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Abnormal dental morphology, Ventricular septal defect, Abnormal den... ORPHA:2092
Joubert Syndrome 37
Cryptorchidism, Hydronephrosis, High palate, Microphthalmia, Micropenis, Decreased testicular size OMIM:619185
3Q29 Microdeletion Syndrome
Dental crowding, Hypospadias, Abnormality of the dentition, Patent ductus arteriosus, Orofacial c... ORPHA:65286
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Emanuel Syndrome
Dental crowding, Micrognathia, High palate, Atrial septal defect, Micropenis, Bifid uvula, Crypto... ORPHA:96170
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... OMIM:618974
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Cryptorchidism, Narrow palate, Micropenis, Short upper lip, Thick vermilio... ORPHA:364028
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Steatorrhea, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Hyper... OMIM:602579
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation ORPHA:3032
Cardiac-Urogenital Syndrome
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... OMIM:618280
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic fibrosis, Intestinal malrotation, Situs inversus totalis, Aspleni... OMIM:208540
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Complete atrioventricular canal d... OMIM:619343
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Micrognathia, Ectopic kidney, Patent ductus arterio... OMIM:613309
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Abnormal tongue morphology, Abnormal heart morphology, Downturned corners of mout... ORPHA:531151
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Alveolar ... OMIM:612938
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Deep philtrum, R... OMIM:617260
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Phaver Syndrome
Ventricular septal defect, Short thumb, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary ... ORPHA:2876
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Cleft palate, Tooth agenesis, High palate, Microphthalmia ORPHA:1135
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Micrognathia, Ectopic kidney, Cleft palate, Abnormal heart morphology, Short 5th... OMIM:239800
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia ORPHA:141333
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Bresek Syndrome
Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Crypto... ORPHA:85284
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Tented upper lip vermilion, Micrognathia, High, narrow palate, Renal cyst, Downturned corners of ... ORPHA:369837
Meckel Syndrome 13
Polycystic kidney dysplasia, Micrognathia OMIM:617562
Intellectual Developmental Disorder, Autosomal Recessive 79
Short hallux, Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum OMIM:620393
Nanophthalmos
Microphthalmia ORPHA:35612
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... OMIM:145001
Otopalatodigital Syndrome Type 2
Short palm, Abnormal heart valve morphology, Hypospadias, Short hallux, Micrognathia, Short thumb... ORPHA:90652
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Hypo... OMIM:619268
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Micrognathia, Renal hypoplasia/aplasia, Thin vermilion border, Long philtr... ORPHA:1438
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Hypoplasia of the premaxilla, Micrognat... ORPHA:2166
Meckel Syndrome, Type 2
Intestinal malrotation, Renal cyst, Cleft palate, Bile duct proliferation, Microphthalmia OMIM:603194
Congenital Toxoplasmosis
Cardiomegaly, Lymphadenopathy, Anemia, Microphthalmia, Thrombocytopenia ORPHA:858
Atelis Syndrome 1
Ventricular septal defect, Carious teeth, Thrombocytopenia, Leukopenia, High palate, Long philtru... OMIM:620184
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Stromme Syndrome
Accessory spleen, Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Micrognathia, ... OMIM:243605
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, Atrial sept... ORPHA:2044
46,Xy Sex Reversal 4
Renal dysplasia, Hypergonadotropic hypogonadism, Micrognathia, Cleft palate, High palate, Long ph... OMIM:154230
Fryns Syndrome
Ureteral duplication, Tented upper lip vermilion, Ectopic pancreatic tissue, Renal cyst, Atrial s... OMIM:229850
Genitopatellar Syndrome
Short palm, Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Cryptorchidism... ORPHA:85201
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Micrognathia OMIM:616171
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Dental crowding, Intestinal malrotation, Hypospadias, Carious teeth, C... OMIM:617602
Meckel Syndrome, Type 9
Limb undergrowth, Multicystic kidney dysplasia OMIM:614209
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Abnormal cardiac ventricle morphology, Hypoplastic... ORPHA:261311
Cornelia De Lange Syndrome 1
Micromelia, Micrognathia, Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of ... OMIM:122470
Trisomy 8P
Short fourth metatarsal, Short fifth metatarsal, Abnormal atrioventricular connection, Cryptorchi... ORPHA:264450
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia, Retrognathia OMIM:614583
Tetrasomy 9P
Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Micropen... ORPHA:3310
Warburg Micro Syndrome 1
Micrognathia, Cryptorchidism, Thin vermilion border, Narrow mouth, Microphthalmia OMIM:600118
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Ventricular septal defect, Mitral stenosis, Hypospadias, Cl... ORPHA:2008
Alg3-Cdg
Abnormality of the endocrine system, Coarctation of the descending aortic arch, Macroglossia, Car... ORPHA:79321
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening ORPHA:93946
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Hydronephrosis OMIM:620327
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Hypospadias, Cleft lip, Pul... OMIM:611812
Holt-Oram Syndrome
Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Anomalous pulmonary venous ret... ORPHA:392
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Glandular hypospadias, Cle... ORPHA:1358
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Supernume... OMIM:311200
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Cleft palate, Cleft upper lip OMIM:614402
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, Nephrocalcinosis, Widel... ORPHA:79500
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Deep philtrum, Non-midline cleft lip, Orofacial cle... ORPHA:1297
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Micro Syndrome
Hypoplasia of penis, Micrognathia, Cryptorchidism, Abnormal localization of kidney, High palate, ... ORPHA:2510
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognat... OMIM:616367
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal defect, Hypospadias... OMIM:619103
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Hypospadias, Protruding tongue, Persistence of primary teeth,... OMIM:610253
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Micrognathia, Cryptorchidism, Cleft pa... OMIM:257300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conic... OMIM:106260
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Patent ductus ... OMIM:601005
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Micropenis, Gingival bleeding, Left ventricular hypert... ORPHA:335
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... OMIM:608670
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Patent ductus arteriosus, Mitral valve prolapse, High palate, Ureteral triplicatio... OMIM:104350
Chromosome 9P Deletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Micrognathia, High, narrow pala... OMIM:158170
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Thin upper lip vermilion, Abnormal heart valve morphology, Cleft lip, Cryptorc... ORPHA:2953
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria OMIM:274270
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upp... OMIM:614294
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Hypospadias, Adrenal hypoplasia, Protruding tongue, Micrognathia, High... OMIM:214100
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... OMIM:619769
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age... ORPHA:2237
Hydrocephaly-Low Insertion Umbilicus Syndrome
Abnormality of the urinary system, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmo... ORPHA:2184
3Mc Syndrome 1
Ventricular septal defect, Dental crowding, Supernumerary nipple, Cleft upper lip, Cleft lip, Pat... OMIM:257920
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Absent... ORPHA:284169
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Gillessen-Kaesbach-Nishimura Syndrome
Micrognathia, Abnormal heart morphology, Polycystic kidney dysplasia, Retrognathia, Smooth philtrum OMIM:263210
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Missing ribs, Hypopl... OMIM:184705
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Protruding tongue, Secundum atrial septal defect, Micrognathia, Splenomegaly,... OMIM:608779
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Micrognathia, Stage 5 chronic kidney dis... OMIM:617729
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Downturned cor... OMIM:618067
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Atrioventricular canal de... ORPHA:508498
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Multicystic kidney dysp... OMIM:614527
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Short palm, Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Decr... OMIM:241410
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great... OMIM:616789
Bardet-Biedl Syndrome 17
Short fourth metatarsal, Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney d... OMIM:615994
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Supernumerary ni... OMIM:612530
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Wide mouth, Macroglossia, Shor... OMIM:615668
Monosomy 18P
Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodonti... ORPHA:1598
Mosaic Trisomy 16
Single coronary artery origin, Ventricular septal defect, Hypospadias, Maternal diabetes, Short t... ORPHA:1708
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... OMIM:601357
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... ORPHA:352665
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, Micrognathia, ... OMIM:145420
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Distal Deletion 12Q
Micrognathia, Ectopic kidney, High, narrow palate, Vesicoureteral reflux, Micropenis, Patent fora... ORPHA:96149
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Filippi Syndrome
Ventricular septal defect, Cryptorchidism, Thin vermilion border, Short philtrum, Hypodontia, Mic... OMIM:272440
Ritscher-Schinzel Syndrome 3
Thin upper lip vermilion, Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Shortening of all... OMIM:619135
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... OMIM:619895
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Hypoplastic scapulae, Adrenal hypoplasia, Cleft ... OMIM:308050
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the gal... ORPHA:2255
Femoral-Facial Syndrome
Short fourth metatarsal, Maternal diabetes, Micrognathia, Micropenis, Cryptorchidism, Absent vert... OMIM:134780
Trisomy 20P
Smooth philtrum, Macroorchidism, Hypospadias, Abnormality of the kidney, Abnormality of the denti... ORPHA:261318
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ... OMIM:617168
Thoracoabdominal Syndrome
Renal agenesis, Hypospadias, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Transpositi... OMIM:313850
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Macroorchidism, Ventricular septal defect, Dental crowding, Micrognathi... OMIM:309520
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Cryptorchidism,... ORPHA:500159
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Ventricular septal defect, Unilateral renal agenesis, Splenomegaly, Patent ductus a... OMIM:614576
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Micrognathia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal... OMIM:617913
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Leukocytosis,... ORPHA:2331
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short metacarpal, Ventricular septal defect, Micrognathia, Renal cyst, Horseshoe kidney, Thick ve... OMIM:250410
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microdontia, Microphthalmia, Widely spaced teeth, Micrognathia OMIM:619694
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Increased serum... OMIM:618901
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Multicystic kidney dysplasia, Micrognathia, Missing ribs, Cryptorchidism, ... ORPHA:3301
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Absen... OMIM:227650
Au-Kline Syndrome
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dental malocclusion, Retrognathia, ... OMIM:616580
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Unilateral renal age... ORPHA:96121
Chromosome 2P16.1-P15 Deletion Syndrome
Thin upper lip vermilion, Optic nerve hypoplasia, High, narrow palate, Cryptorchidism, Hydronephr... OMIM:612513
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of to... OMIM:269860
Periventricular Nodular Heterotopia 7
Microretrognathia, Ventricular septal defect, Dental crowding, Micrognathia, Cryptorchidism, Pier... OMIM:617201
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Multicystic kidney dysplasia, Stomach cancer, Micrognathia, Cleft palate, C... ORPHA:1052
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Open mouth, Ventricular septal defect OMIM:616816
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Thrombocytop... OMIM:169400
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Hypospadias, Micrognathia, Cryptorchidism, Abnormal heart morphology, ... ORPHA:494344
Microphthalmia, Lenz Type
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Hypospadias, Abnormality of t... ORPHA:568
Fanconi Anemia
Micrognathia, Leukopenia, High palate, Atrial septal defect, Abnormality of the hypothalamus-pitu... ORPHA:84
2Q37 Microdeletion Syndrome
Short metacarpal, Multicystic kidney dysplasia, Supernumerary nipple, Pyloric stenosis, Small han... ORPHA:1001
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Diastema, Cryptorchid... ORPHA:329224
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Absen... OMIM:600901
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Tyshchenko Syndrome
Ventricular septal defect, Supernumerary nipple, High, narrow palate, Cryptorchidism, Narrow pala... OMIM:615102
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Rieger anomaly, Diabetes mellitus, Ventricular septal defect, Micrognat... OMIM:270450
15Q Overgrowth Syndrome
Mandibular prognathia, Microretrognathia, Dental crowding, Ureterovesical stenosis, Micrognathia,... ORPHA:314585
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Splenom... OMIM:263200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Microphthalmia, Cardiomyopathy OMIM:613155
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Hypospadias, Micrognathia, Cleft lip, Patent ductus arteriosus, Crypto... OMIM:616975
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Protruding tongue, Cryptorchidism, Conotruncal defect, ... ORPHA:96147
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Micrognathia, A... OMIM:164280
Vater/Vacterl Association
Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Absent r... OMIM:192350
Nanophthalmos 4
Microphthalmia OMIM:615972
Alg9-Cdg
Villous atrophy, Micrognathia, Right ventricular dilatation, Abnormal left ventricular outflow tr... ORPHA:79328
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Persistence of primary teeth, A... OMIM:305620
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Hypospadias, Unilateral microphthalmos, Bilateral cleft lip and palate,... OMIM:618874
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Abnor... ORPHA:369891
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic... OMIM:227646
Moebius Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micrognathia, Abnormality of the dentit... OMIM:157900
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Absent gallbladder, Hamartoma of tongue, Esophageal diverticulum, Micrognathia, Comp... OMIM:617925
Hajdu-Cheney Syndrome
Ventricular septal defect, Intestinal malrotation, Hypospadias, Micrognathia, Absent frontal sinu... OMIM:102500
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Malar prominence, Microphthalmia, Hypogonadotropic hypogonadism, Micrognathia ORPHA:48431
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect,... ORPHA:49827
Hartsfield Syndrome
Microphthalmia, Non-midline cleft lip, Aplasia/Hypoplasia of the radius, Cleft palate ORPHA:2117
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Increased mean platelet volume... ORPHA:487796
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Hypoplasia of the bladder, Bicusp... OMIM:300707
Robinow Syndrome, Autosomal Dominant 3
Ventricular septal defect, Hypoplastic right heart, Micrognathia, Cleft lip, Patent ductus arteri... OMIM:616894
Wiskott-Aldrich Syndrome
Hemolytic anemia, Glomerulopathy, Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, T... ORPHA:906
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Micrognathia, Atrial septal defect, Advanced eruption of teeth, Atrioventric... ORPHA:818
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Cleft palate, Oligosacchariduria, Downturned corners of mouth, Hemiatrophy of upper... ORPHA:163649
Charge Syndrome
Anophthalmia, Vesicoureteral reflux, Micropenis, Hypogonadotropic hypogonadism, Cleft upper lip, ... ORPHA:138
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Splenomegaly, Chronic kidney disease, Orofacial cleft, Short ribs, Nep... OMIM:615630
C Syndrome
Short metacarpal, Ventricular septal defect, Accessory oral frenulum, Micromelia, Micrognathia, C... OMIM:211750
Trisomy 18
Microretrognathia, Ventricular septal defect, Abnormality of the upper urinary tract, Esophageal ... ORPHA:3380
Renpenning Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Hypospad... OMIM:309500
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Micrognathia, Patent ductus arteriosus, Arterial stenosis, Orofacia... ORPHA:1556
Meckel Syndrome, Type 1
Adrenal hypoplasia, Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Cleft upper lip, ... OMIM:249000
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,... OMIM:613870
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho... ORPHA:42775
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Ventricular septal defect, Optic ... OMIM:617506
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... ORPHA:2521
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Ventricular septal defect, Renal hypoplasia/aplasia, Non-midline cle... ORPHA:1770
Branchiootorenal Syndrome 1
Renal dysplasia, Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal stea... OMIM:113650
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Micrognathia, Pyloric stenosis, Cleft palate, Abnorma... ORPHA:261197
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Renal hypoplasia/aplasia, Cleft palate, Ectopic anus, Anal atresia ORPHA:2345
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car... OMIM:608836
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... ORPHA:1352
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Atrial septal defect, Bi... OMIM:300373
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cleft palate, Cryptorchidism OMIM:164180
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Microgna... ORPHA:2260
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Patent foramen ovale, Coronary-pulmonary artery fistula, Micrognathia OMIM:619699
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,... OMIM:618975
Penile Agenesis
Urethral atresia, male, Ventricular septal defect, Hydroureter, Maternal diabetes, Rectal fistula... ORPHA:49
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St... OMIM:613095
Triploidy
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Micrognathia, Cryptorchidism, Non-midli... ORPHA:3376
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Micrognathia, Small hand, Bilateral cleft lip and palate, Microphthalmia OMIM:619339
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Pulmonic stenosis OMIM:620141
Campomelia, Cumming Type
Multicystic kidney dysplasia, Micromelia, Pancreatic cysts, Cleft palate, Abnormal intestine morp... ORPHA:1318
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno... ORPHA:2973
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Decreased response to growth hormone stimulation test, Downturned corners ... OMIM:601808
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular acidosis, Tongue... OMIM:614922
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi... OMIM:619503
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Thin vermilion border, Long philtrum, ... ORPHA:85194
Kagami-Ogata Syndrome
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, Patent ductus a... OMIM:608149
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Micrognathia, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal ... OMIM:208085
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Renal hypoplasia, Renal cyst, Ureteral agenesis, Renal dysplasia OMIM:236500
Cohen Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the dent... ORPHA:193
Jacobsen Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Intestinal malrotation, Missing ribs, Py... ORPHA:2308
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Atelis Syndrome 2
Micrognathia, Diastema, Thrombocytopenia, Patent ductus arteriosus, Thick lower lip vermilion, El... OMIM:620185
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Duodenal sten... ORPHA:2470
Phelan-Mcdermid Syndrome
Ventricular septal defect, Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Den... OMIM:606232
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Supernumerary nipple, M... ORPHA:247262
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ventricular septal defect, Micromelia, Cryptorchidism, Hypoplastic left heart ORPHA:2772
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:214300
Ververi-Brady Syndrome
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ... OMIM:617982
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogona... OMIM:227645
Fanconi Anemia, Complementation Group R
Absent thumb, Agenesis of permanent teeth, Anemia, Bone marrow hypocellularity, Microphthalmia, P... OMIM:617244
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Roifman Syndrome
Noncompaction cardiomyopathy, Thin upper lip vermilion, Short metacarpal, Ventricular septal defe... OMIM:616651
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Short philtrum, Atrial septal de... OMIM:301039
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Short palm, Micropen... OMIM:268310
Warsaw Breakage Syndrome
Wide mouth, High palate, Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin upper lip vermilion, Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Microgna... OMIM:610759
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Absent toe, Esophageal varix, Absent hand, Leukopenia, Arter... ORPHA:974
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Micrognathia, Renal hypoplasia/aplasia,... ORPHA:3015
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Hypospadias, Micrognathia, Cario... ORPHA:96097
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Cleft palate, Micropenis, Bifid uvula OMIM:614175
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasi... ORPHA:141099
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Proteinuria, Ventricular septal defect, Micrognathia, Hematuria, Tubulointerstitial ... OMIM:616901
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Partial absence... ORPHA:955
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Hypoplasia of the maxilla, Vesicoureteral reflux, Cleft palate, Atrial... OMIM:614261
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Short humerus, Renal malrotation, Aganglionic megacolon, Optic disc hypop... ORPHA:959
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Gingival overgrowth, Long philtrum, Patent foramen ovale, Hydronephrosis OMIM:619179
Lateral Meningocele Syndrome
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Micrognath... OMIM:130720
3Q29 Microduplication Syndrome
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anu... ORPHA:251038
Cranioectodermal Dysplasia 2
Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Mi... OMIM:613610
Tuberous Sclerosis 1
Dental enamel pits, Precocious puberty, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cyst, R... OMIM:191100
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Micrognathia, Atrial septal defect, Phocomelia, Atrioventricular canal defe... OMIM:274000
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Carious teeth, S... ORPHA:90324
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Transient neutropenia, Ventricular septal defect, Renal cyst, Mitral valve pro... OMIM:617107
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Dental crowding, Cleft upper lip, Patent d... OMIM:612582
Floating-Harbor Syndrome
Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of mouth, Nephr... OMIM:136140
Desmoid Tumor
Intestinal polyposis, Intestinal obstruction, Abnormality of the upper urinary tract, Malabsorpti... ORPHA:873
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Wide mouth, Micro... OMIM:617798
Microphthalmia With Limb Anomalies
Macrodontia, Hypoplasia of the premaxilla, Cleft upper lip, Venous insufficiency, Micrognathia, H... ORPHA:1106
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Cryptorchidism, Arteria lusoria, Anteriorly placed anus, High palate, Vesic... OMIM:618653
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Smith-Lemli-Opitz Syndrome
Dental crowding, Micromelia, Micrognathia, Renal cyst, Atrial septal defect, Micropenis, Bifid uv... OMIM:270400
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Patent ductus... OMIM:617061
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Methylmalonic aciduria, Eleva... OMIM:614105
Trigonocephaly With Short Stature And Developmental Delay
High palate, Ventricular septal defect, Broad alveolar ridges OMIM:314320
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Renal cyst, Short palm, Atrial septal defect, Exaggerated median tongue fu... OMIM:312870
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Submucous cleft hard palate, Hig... OMIM:222765
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Retrognathia ORPHA:52055
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Open bite, Venous insufficiency, Abnormality of the pa... ORPHA:2969
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:609654
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria, B... ORPHA:445038
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Asplenia, Cleft lip, Cryptorchidism, Cleft palate, Pulmo... OMIM:619123
Microform Holoprosencephaly
Hypoplasia of penis, Tented upper lip vermilion, Renal agenesis, Maternal diabetes, Panhypopituit... ORPHA:280200
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Orofacial cleft ORPHA:324416
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Anterior pi... OMIM:206900
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... ORPHA:3472
Microphthalmia, Syndromic 13
Microphthalmia, Widely-spaced incisors OMIM:300915
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Micromelia, Bilateral renal hypoplasia, Cleft maxillary alveolar rid... ORPHA:508488
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus ... ORPHA:464311
Short Stature-Micrognathia Syndrome
Rhizomelia, Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft palate, High palate, M... OMIM:617164
Diamond-Blackfan Anemia 1
Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Neutropenia, Atria... OMIM:105650
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, High palate, Ventricular septal defect ORPHA:3369
Kabuki Syndrome 1
Premature thelarche, Micrognathia, High palate, Atrial septal defect, Micropenis, Hemolytic anemi... OMIM:147920
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Atrial septal defect, M... ORPHA:289
Nance-Horan Syndrome
Mandibular prognathia, Short metacarpal, Abnormality of the dentition, Supernumerary tooth, Micro... ORPHA:627
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, High, narrow palate, Atrial sep... ORPHA:373
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer OMIM:135150
Raine Syndrome
Mandibular prognathia, Natal tooth, Hydroureter, Micromelia, Protruding tongue, Micrognathia, Gin... OMIM:259775
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High p... ORPHA:124
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Hypoplasia of penis, Hydronephrosis, Micrognathia ORPHA:2083
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Thrombocytopenia, Pancreatic cysts, Splenomegaly, Abno... ORPHA:464329
Martsolf Syndrome 1
Short palm, Short metacarpal, Hypogonadotropic hypogonadism, Micrognathia, Hypoplasia of the maxi... OMIM:212720
Primary Pulmonary Hypoplasia
Ureteral stenosis, Dextrocardia, Micrognathia, Secundum atrial septal defect, Cleft palate, Patel... ORPHA:2257
Alagille Syndrome
Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Crypto... ORPHA:52
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Dilation of Virchow-Robin spa... OMIM:300998
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Open bite, Micrognathia, Deep philtrum, Submucous cleft hard palate... OMIM:115150
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Deep philtrum, Diabetes insipidus, ... ORPHA:2162
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... OMIM:239300
Brachydactyly, Type B1
Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the ... OMIM:113000
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Micrognathia, Carious teeth, Cryptorchidism, Thin vermilion border, Lo... OMIM:214150
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Large vessel vasculitis, Renovascular hypertensi... ORPHA:49041
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Optic nerve hypoplasia, Supernumerary nipple, Hydronephrosis, Evert... ORPHA:261349
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Dextrotransposition of... OMIM:618619
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Cryptorchidism, Patent duct... OMIM:300963
Peters Plus Syndrome
Ureteral duplication, Micromelia, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein... ORPHA:709
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Fetal megacystis, Sh... ORPHA:73246
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Micrognathia, Crypto... OMIM:605275
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... OMIM:604292
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Fanconi Anemia, Complementation Group S
Macrodontia, Dental malocclusion, Narrow palate, Ovarian neoplasm, Ovarian carcinoma, Microphthal... OMIM:617883
Okamoto Syndrome
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper... ORPHA:2729
15Q14 Microdeletion Syndrome
Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt... ORPHA:261190
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... ORPHA:564
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... OMIM:614823
Joubert Syndrome 20
Renal cyst OMIM:614970
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Holoprosencephaly 3
Cleft lip, Cleft palate, Hydronephrosis, Solitary median maxillary central incisor, Malar flatten... OMIM:142945
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upper lip, Pulmonar... OMIM:100300
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Renal duplication, Oral mucosal blisters, Urinary bladder inflammation, Conge... ORPHA:79403
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia o... OMIM:610829
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Osteopetrosis With Renal Tubular Acidosis
Micrognathia, Leukopenia, High palate, Prominence of the zygomatic bone, Persistence of primary t... ORPHA:2785
Pfeiffer Syndrome Type 3
Intestinal malrotation, Short hallux, Small hand, Cleft palate, Horseshoe kidney, Short foot, Hig... ORPHA:93260
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... ORPHA:436252
Odontochondrodysplasia 1
Delayed eruption of teeth, Short metacarpal, Micromelia, Mesomelia, Nephronophthisis, Long philtr... OMIM:184260
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Ventricular septal defect, Hypospadias, Micrognathia, Complet... OMIM:236680
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Meckel Syndrome 14
Microretrognathia, Micrognathia, Polycystic kidney dysplasia, Microphthalmia, Retrognathia, Singl... OMIM:619879
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Microdontia, Micrognathia, Hypothyr... OMIM:620005
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Micrognathia, Wid... ORPHA:2995
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Exaggerated cupid... OMIM:615879
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Congen... ORPHA:2519
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb, Bone marrow hypocellularity OMIM:609054
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Anterior pituitary hypoplasia, Hypospadias, Unilateral renal agenesis,... ORPHA:464306
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Micrognathia, Alveolar ridge overgrowth, Cleft palate, Mesomeli... OMIM:260660
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Cleft... OMIM:154400
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pulmonary artery sli... OMIM:235730
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Hypospadias, Micrognathia, Cryptorchidism, Splenomegaly, Cleft palate,... OMIM:614866
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Cleft palate, Stroke-like episode, Polycystic ovaries, R... ORPHA:137675
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Microretrogna... OMIM:619909
Lambotte Syndrome
Retrognathia, Ventricular septal defect, Narrow mouth OMIM:245552
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Wide mouth, Short foot, Short philtrum, Short palm, Microphthalmia ORPHA:163966
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia, Cleft palate, Glossoptosis... ORPHA:1393
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Dilated cardiomyopathy, Microcytic anemia OMIM:618805
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia o... OMIM:257850
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Exaggerated cupid's bow, Supernumerary nipple, Cleft lip, Deep philtrum, Cleft palate, Short phil... OMIM:620098
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
High palate, Hydronephrosis, Cleft palate ORPHA:488613
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Uretera... OMIM:309350
Coffin-Siris Syndrome 1
Conical tooth, Ectopic kidney, Short philtrum, High palate, Atrial septal defect, Microdontia, Hy... OMIM:135900
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Long philtrum, Microphthalmia ORPHA:2505
Refsum Disease
Short metacarpal, Renal insufficiency, Splenomegaly, Cardiomyopathy, Microphthalmia ORPHA:773
Opitz Gbbb Syndrome
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cleft upper lip, Rectourethral ... OMIM:300000
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... OMIM:610125
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancrea... OMIM:263520
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormality of the kidney, Abnormal stomach morphology, Ascending aort... ORPHA:141127
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Thin upper lip vermilion, Diabetes mellitus, Hiatus hernia, Pancreatic cysts, Splenomegaly, Eleva... OMIM:610199
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... ORPHA:2847
Joubert Syndrome 22
Microphthalmia, Renal hypoplasia OMIM:615665
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... ORPHA:97362
Solitary Median Maxillary Central Incisor
Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m... OMIM:147250
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Ogden Syndrome
Microretrognathia, Everted upper lip vermilion, Ventricular septal defect, High, narrow palate, P... ORPHA:276432
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Hypospadias, Bicuspid aortic valve, Patent ductus arteriosus, Open mouth OMIM:617751
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Renal hypoplasia, Narrow mouth, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Chops Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Cryptorchidism, Splenom... OMIM:616368
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Dental malocclusion, High palate, Narr... ORPHA:2115
Orofaciodigital Syndrome Vi
11 pairs of ribs, Short femur, Renal agenesis, Accessory oral frenulum, Cleft upper lip, Hamartom... OMIM:277170
De Barsy Syndrome
Delayed eruption of teeth, Ventricular septal defect, Narrow mouth, Patent ductus arteriosus, Hyp... ORPHA:2962
Diaphanospondylodysostosis
Nephrogenic rest, Missing ribs, Micrognathia, Nephroblastomatosis, Cleft palate, Horseshoe kidney... OMIM:608022
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Micrognathia, Short metatarsal, Patellar hypoplasia, Hand monodactyly, High palate, Atrial septal... OMIM:609945
Congenital Disorder Of Glycosylation, Type Ia
Thin upper lip vermilion, Pericarditis, Villous atrophy, Hypergonadotropic hypogonadism, Proteinu... OMIM:212065
Sotos Syndrome
Mandibular prognathia, Ventricular septal defect, Abnormality of the kidney, High, narrow palate,... OMIM:117550
Peutz-Jeghers Syndrome
Intestinal obstruction, Pancreatic adenocarcinoma, Esophageal neoplasm, Enlarged polycystic ovari... ORPHA:2869
Lymphatic Malformation 5
Hypoplasia of lymphatic vessels, Cleft palate OMIM:153200
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... ORPHA:364577
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Exaggerated cupid's bow, Abnormality of the dentition, Micrognathia, Cryptor... ORPHA:284160
Weill-Marchesani Syndrome
Short thumb, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Meckel Syndrome, Type 6
Absent gallbladder, Cleft upper lip, Renal cyst, Cleft palate, Horseshoe kidney, Aplasia of the b... OMIM:612284
Chromosome 8Q21.11 Deletion Syndrome
Short metacarpal, Exaggerated cupid's bow, Micrognathia, Cryptorchidism, Cleft palate, Downturned... OMIM:614230
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Aortic arch aneurysm, Mandibular prognathia, Short distal phalanx of t... OMIM:135500
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch... ORPHA:805
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent ductus arteriosus, High palate, Thick vermilion border, Short s... OMIM:620113
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, Widely spaced teeth, High palat... OMIM:266920
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Micrognathia, Precocious puberty, Cleft pal... ORPHA:447980
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Proteinuria, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal t... OMIM:613404
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis, Micrognathia OMIM:610756
Mosaic Trisomy 8
Micrognathia, Cryptorchidism, Patellar aplasia, Cleft palate, Hydronephrosis, High palate, Vesico... ORPHA:96061
Faciocardiorenal Syndrome
Cleft palate, Horseshoe kidney, Endocardial fibroelastosis, Hypodontia, Tricuspid valve prolapse,... ORPHA:1973
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Retrognathia, Ventricular septal defect, Hypoplasia of teeth OMIM:234050
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Hydroureter, Abnormal dental morphology, Ventricular... ORPHA:1458
Jansen-De Vries Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Small hand, Wide mout... OMIM:617450
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Mitral ... OMIM:121050
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis, Abnormality of th... ORPHA:991
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Microphthalmia, High palate, Hypoplastic cervical vertebrae ORPHA:35173
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Micrognat... OMIM:609192
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
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Short toe, Hydronephrosis, Delayed eruption of permanen... OMIM:619269
Woods Syndrome
Thin vermilion border, Ventricular septal defect, Supernumerary nipple OMIM:615236
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Long p... OMIM:152950
Noonan Syndrome 8
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:615355
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... ORPHA:534
Cystic Echinococcosis
Eosinophilia, Abnormality of the testis size, Renal cyst, Abnormal heart morphology, Ovarian cyst... ORPHA:400
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Ventricular septal defect, Micromelia, Patent ductus arteriosus, Long philtrum... OMIM:618870
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palat... OMIM:613091
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... OMIM:612528
Bohring-Opitz Syndrome
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ... OMIM:605039
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Rhizomelia, Decreased response to growth hormone stimulation test, Mic... OMIM:614114
2Q31.1 Microdeletion Syndrome
Short palm, Ventricular septal defect, Micrognathia, Cryptorchidism, Deep philtrum, Cleft palate,... ORPHA:251014
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Cleft palate, Multiple renal cysts, ... ORPHA:1190
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Pericardial effusion,... OMIM:139210
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Hypothyroidism, Abnormality of the an... ORPHA:1606
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Esophageal varix, Renal hypo... ORPHA:84081
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Micrognathia, Absent thumb, Esophageal atresia, Ab... OMIM:614083
Oculodentodigital Dysplasia
Neurogenic bladder, Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, Cleft ... OMIM:164200
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections, Aplasia of the 3rd finger OMIM:619218
Alagille Syndrome 1
Duplicated collecting system, Hypoplasia of the ulna, Ventricular septal defect, Multiple small m... OMIM:118450
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Recurrent sinusitis, Short distal phalanx o... ORPHA:85202
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Intestinal malrotation, Micromelia, Micrognathia, Missing ribs, Short r... OMIM:617866
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Micrognathia, Cryptorc... OMIM:613884
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, Eosinophilic infiltrati... OMIM:615582
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypergonadotrop... OMIM:602782
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... OMIM:129900
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Cleft pal... OMIM:607597
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Nephrocalcinosis, High palate, ... ORPHA:769
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Erosion of oral mucosa, Multicystic kidney dysp... ORPHA:79404
15q26 overgrowth syndrome
Mandibular prognathia, Renal agenesis, Abnormality of the kidney, Micrognathia, Horseshoe kidney,... DECIPHER:81
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Natal tooth, Prominent scalp veins, Short femur, Short humerus, Hyposp... OMIM:264090
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... OMIM:615279
Distal 22Q11.2 Microdeletion Syndrome
Short palm, Thin upper lip vermilion, Recurrent urinary tract infections, Ventricular septal defe... ORPHA:261330
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Ventricular septal defect, Dental crowding, Abnormality of t... ORPHA:251028
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Thrombocytopenia... ORPHA:261250
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Thick lower lip vermi... OMIM:618027
Multifocal Atrial Tachycardia
Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec... ORPHA:3282
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
X Small Rings
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Up... ORPHA:96201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-brown urine, R... ORPHA:228308
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Seckel Syndrome 9
Recurrent urinary tract infections, Ventricular septal defect, Micrognathia, Pulmonary artery hyp... OMIM:616777
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Bile duct proliferation, Cleft palate OMIM:607361
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
Dubowitz Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Anal stenosis, Hypoparathyroidism, Hy... ORPHA:235
Nijmegen Breakage Syndrome
Anal stenosis, Sinusitis, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Cleft ... OMIM:251260
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Precocious puberty, Gingival fibromatosis, Car... OMIM:613254
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Cryptorchidism, Submucous cleft hard palate, High palate, Hypopl... ORPHA:1340
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Precocious pu... OMIM:619312
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Cleft upper l... ORPHA:33001
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, High palate, Retro... OMIM:300472
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Carious teeth, Microretrognathia, Dental malocclusion, Renal cyst OMIM:615560
Degcags Syndrome
Micrognathia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High palate, Atrial... OMIM:619488
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Warburg Micro Syndrome 3
Micrognathia, Narrow palate, Downturned corners of mouth, Microphthalmia, Micropenis, Decreased t... OMIM:614222
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard p... ORPHA:261537
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... OMIM:614609
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Micrognathia... OMIM:613457
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... OMIM:258900
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Downturned corners of mouth, High palate, Atrial septal... OMIM:619522
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submuc... ORPHA:2250
Mosaic Trisomy 20
Ventricular septal defect, Abnormality of the kidney, Micrognathia, Cleft lip, Cryptorchidism, Dy... ORPHA:1724
Gracile Bone Dysplasia
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen, Ankyloglossia OMIM:602361
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Abnormal renal morp... ORPHA:363700
Toriello-Carey Syndrome
Aganglionic megacolon, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coar... ORPHA:3338
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Cleft palate, Aplasia/Hypoplasia of the frontal sinuses, Microphthalmi... ORPHA:306542
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Ventricula... ORPHA:2438
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, High palate, Long philtrum, ... OMIM:617452
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Trichothiodystrophy 3, Photosensitive
Natal tooth, Lymphopenia, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Neutropenia,... OMIM:616395
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Short tibia, Missing ribs, Cleft palate, F... OMIM:251230
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... ORPHA:369929
Aase-Smith Syndrome I
Open mouth, Ventricular septal defect, Cleft palate OMIM:147800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Mowat-Wilson Syndrome
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard p... ORPHA:2152
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Short philtrum, Hig... ORPHA:798
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Vesicoureteral reflux, Atrial septal... ORPHA:857
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Aganglionic megacolon, Abnormal hemoglobin, Abno... ORPHA:847
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, Renal cyst OMIM:605231
Skin Creases, Congenital Symmetric Circumferential, 1
Micrognathia, Narrow mouth, Cleft palate, High palate, Hypoplastic nipples, Long philtrum, Microp... OMIM:156610
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Vacterl With Hydrocephalus
Absence of the sacrum, Anophthalmia, Renal agenesis, Micrognathia, Renal hypoplasia/aplasia, Esop... ORPHA:3412
19P13.12 Microdeletion Syndrome
Short palm, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Cleft pal... ORPHA:254346
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Micrognathia, Ena... ORPHA:2363
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Patent ductus arteriosus, Short toe, O... ORPHA:1519
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Accessory oral frenulum, Micromelia, Aplastic clavicle, Cleft palate, Short ... OMIM:616546
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Testicular neoplasm, Renal hamartom... ORPHA:99880
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Widely spaced teeth, High palate, Mic... OMIM:612474
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... ORPHA:500095
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, Hypospadi... ORPHA:93111
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... OMIM:617914
Frontometaphyseal Dysplasia
Short metacarpal, Micrognathia, Ureteral obstruction, Urethral stenosis, Short metatarsal, Cleft ... ORPHA:1826
Campomelic Dysplasia
11 pairs of ribs, Small abnormally formed scapulae, Micrognathia, Fibular hypoplasia, Cleft palat... ORPHA:140
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum... ORPHA:1071
Arboleda-Tham Syndrome
Microretrognathia, Thin upper lip vermilion, Mandibular prognathia, Recurrent urinary tract infec... OMIM:616268
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Hypospadias, Abnormal renal collecting system morphology, Patent duct... ORPHA:17
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard p... ORPHA:261552
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... OMIM:618748
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Peters-Plus Syndrome
Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Micrognathia, Hypoplasia of t... OMIM:261540
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Intestinal malrotation, Absent thumb, Short thumb, Patent du... OMIM:147750
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Micrognath... OMIM:300855
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... ORPHA:363958
Ohdo Syndrome, X-Linked
Hiatus hernia, Micrognathia, Short thumb, Cryptorchidism, Thin vermilion border, High palate, Wid... OMIM:300895
Renal Agenesis
Renal insufficiency, Renal agenesis, Ventricular septal defect, Proteinuria, Unilateral renal age... ORPHA:411709
Vitreoretinochoroidopathy
Microphthalmia, Retinal arteriolar constriction, Retinal arteriolar occlusion OMIM:193220
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv... OMIM:616564
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Wide mouth, Thin ve... ORPHA:217346
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Testicular neoplasm, Renal hamartom... ORPHA:143
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Micrognathia, Anteriorly place... OMIM:620305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Frontonasal Dysplasia 3
Microphthalmia, Cleft palate OMIM:613456
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Renal cyst, Short philtrum, Atrial septal defect, Micropenis, Patent fo... OMIM:210710
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Ventricular septal defect, Hamartoma of tongue, Micrognathia, Cle... OMIM:615948
Jacobsen Syndrome
Ventricular septal defect, Hypospadias, Micrognathia, Missing ribs, Pyloric stenosis, Cryptorchid... OMIM:147791
Myhre Syndrome
Mandibular prognathia, Short palm, Craniofacial hyperostosis, Abnormal penis morphology, Hypospad... ORPHA:2588
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Wide mouth, Widely-spaced incisors OMIM:617635
Trisomy 10P
Absent gallbladder, Abnormality of the kidney, Micrognathia, Short toe, Orofacial cleft, Abnormal... ORPHA:171929
Occipital Horn Syndrome
Short humerus, Hiatus hernia, Hydronephrosis, Bladder diverticulum, High palate, Short clavicles,... OMIM:304150
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... ORPHA:402075
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... OMIM:617100
Cerebrooculofacioskeletal Syndrome 4
Micrognathia, Bilateral microphthalmos, Short philtrum, Abnormal heart morphology OMIM:610758
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Micrognathia, Esophageal atresia, Deep philtrum, Cleft palate, Atrial ... OMIM:610536
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, High palate, Long philtrum, ... ORPHA:505237
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Prominent superficial veins, Micrognathia, Hypoplasia of the maxilla, ... OMIM:601812
Pallister-Hall Syndrome
Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Atrioventricul... ORPHA:672
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Neoplasm of the heart, Cryptor... ORPHA:2241
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Ventricular septal defect, Micrognathia, Precocious puberty, Cryptorchidism, Sh... OMIM:620073
Granulomatosis With Polyangiitis
Glomerulopathy, Pericarditis, Sinusitis, Intestinal obstruction, Ureteral stenosis, Renal insuffi... ORPHA:900
King-Denborough Syndrome
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Deep philtrum, High palate OMIM:619542
Neu-Laxova Syndrome 1
Ventricular septal defect, Renal agenesis, Micromelia, Swollen lip, Cleft upper lip, Micrognathia... OMIM:256520
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary collateral ar... OMIM:620025
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Abnormality of the kidney, Maturity-onset diabetes of the young, ... OMIM:137920
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious... ORPHA:438213
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Cleft upper lip, Micrognathia, Cryptorchidism, Hypoplasia of the... ORPHA:3103
Holt-Oram Syndrome
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a... OMIM:142900
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid hypoplasia, Ventricular septal defect, Micrognathia, Thyroid agenesis... ORPHA:3047
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B... ORPHA:1942
Orofaciodigital Syndrome Type 2
Micrognathia, Central retinal vessel vascular tortuosity, High palate, Short tibia, Atrioventricu... ORPHA:2751
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Micrognath... ORPHA:96191
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Tetraamelia Syndrome 1
Renal agenesis, Micrognathia, Cleft upper lip, Asplenia, Cleft palate, Urethral atresia, Adrenal ... OMIM:273395
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Netherton Syndrome
Aminoaciduria, Ectopic kidney, Hydronephrosis, Malabsorption ORPHA:634
Trichohepatoenteric Syndrome 1
Villous atrophy, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Splenome... OMIM:222470
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Oral mucosal blisters, Abnormality of the urethra, Congenital pyloric atresia, A... ORPHA:158684
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... ORPHA:96334
Gm1 Gangliosidosis
Mandibular prognathia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Gingiva... ORPHA:354
Momo Syndrome
Delayed eruption of teeth, Abnormality of the thyroid gland, Bilateral microphthalmos, Thick lowe... ORPHA:2563
Campomelic Dysplasia
11 pairs of ribs, Irregular dentition, Absent sternal ossification, Hypoplastic scapulae, Hypospa... OMIM:114290
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Pyloric stenosis, Cryptorchidism, Cl... ORPHA:83617
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cryp... ORPHA:1465
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Small hand, Cleft ... ORPHA:85276
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula OMIM:619083
Joubert Syndrome 2
Renal insufficiency, Renal cyst, High palate, Nephronophthisis, Microphthalmia OMIM:608091
Costello Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Abnormality of the dentition, Crypt... ORPHA:3071
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly place... OMIM:612289
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Neutropenia, Hypothyroidism, H... ORPHA:699
Frontorhiny
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Microphthalmia, Hypopituita... ORPHA:391474
Weill-Marchesani Syndrome 1
Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, Microspherophakia... OMIM:277600
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... OMIM:618775
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Diaste... OMIM:244450
Ataxia-Telangiectasia
Sinusitis, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopeni... OMIM:208900
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Splenopancreatic fusion, Macroglossia, Hypoplasia of... OMIM:269150
Gabriele-De Vries Syndrome
Abnormality of upper lip vermillion, Decreased response to growth hormone stimulation test, Abnor... ORPHA:506358
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Narrow mouth,... OMIM:601776
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Bartsocas-Papas Syndrome 1
Anal stenosis, Short metacarpal, Hypoplastic scapulae, Cleft upper lip, Hypoplasia of the maxilla... OMIM:263650
D-Bifunctional Protein Deficiency
Micrognathia, Splenomegaly, Primary adrenal insufficiency, Renal cyst, Bile duct proliferation, H... OMIM:261515
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Hemiatrophy, Microphthalmia, Malar flattening, Hydronephrosis OMIM:302960
Adams-Oliver Syndrome 2
Microphthalmia, Short middle phalanx of finger, Micrognathia OMIM:614219
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Abnormality of the dentition, Conical tooth, Cryptorchidism, Hypogonadism, Microphthalmia, Broad ... ORPHA:228390
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Primary hyperaldosteronism... OMIM:615474
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... ORPHA:552
Severe X-Linked Intellectual Disability, Gustavson Type
Vesicoureteral reflux, Ventricular septal defect, Micrognathia ORPHA:3078
Warburg Micro Syndrome 4
Cryptorchidism, Narrow mouth, Long philtrum, Microphthalmia, Micropenis, Decreased testicular size OMIM:615663
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Ventricular septal defect, Dental crowding, Micrognathia, High, narrow... ORPHA:2789
Neurocardiofaciodigital Syndrome
Patent ductus arteriosus, Retrognathia, Vesicoureteral reflux, Double inlet left ventricle, Thin ... OMIM:619869
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Mic... ORPHA:899
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia, Hypoplasia of the maxil... ORPHA:79345
Focal Dermal Hypoplasia
Ureteral duplication, Anophthalmia, Short metatarsal, Anteriorly placed anus, Oligodontia, Foot o... OMIM:305600
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy ORPHA:370959
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Thyroid hypoplasia, ... OMIM:620186
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Abnormal... OMIM:154500
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth, Ventricular septal defect, Abnormal medullary pyramid morphology ORPHA:79243
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Cardiomyopath... ORPHA:157
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cleft lip, Cryptorchidism... OMIM:603457
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplastic scapulae, Absent nipple, Renal agenesis, Micrognathia, Missin... OMIM:200980
Esophageal Atresia
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Maternal diabetes, Renal ag... ORPHA:1199
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... ORPHA:1782
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, ... OMIM:201180
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Oral ulcer, Lymph... OMIM:602450
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio... OMIM:300967
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Open mouth, Hypoplastic aortic arch, Optic nerve hypoplasia, Unilateral renal agenesis ORPHA:457284
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Micropenis, Thin vermil... ORPHA:96123
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Hyperplasia of the ... OMIM:268300
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Proteinuria ORPHA:2143
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Ventricular septal defect, Macrodontia, Protruding tongue, Diastema, Gingi... OMIM:212066
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Weill-Marchesani Syndrome 2
Short metacarpal, Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus,... OMIM:608328
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Cleft upper lip, Hama... OMIM:109400
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia OMIM:615989
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Exaggerated cupid's bow, Macroglossia, Open mouth, Retrognathia, Hydronephrosis ORPHA:254528
Axial Osteomalacia
Renal cyst OMIM:109130
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro... OMIM:618727
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Ventricular septal defect, Unilateral renal agenesis, Micrognathia, Crypto... ORPHA:261337
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Hypoplasia of the calcaneus, Microphthalmia, Distal shortening of l... OMIM:300863
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Extramedullary hematopoiesis, Renal cyst, Steatorrhea, Fat malabsorption ORPHA:79303
Ulnar-Mammary Syndrome
Hypoplasia of penis, Ventricular septal defect, Pyloric stenosis, Cryptorchidism, Absent hand, Re... ORPHA:3138
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Abnormal periodontium morphology, High palate, Atrial septal defect, Abnormal circulating thyroid... ORPHA:480880
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hiatus hernia, Micrognathia, Hypop... OMIM:251300
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Narrow mouth, Car... ORPHA:77301
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Micromelia, Hypoplastic pulmonary veins, Absent pulmonary artery, Hydronephrosis, Lon... OMIM:610682
Alveolar Echinococcosis
Eosinophilia, Abnormal pericardium morphology, Hepatic cysts, Pancreatic cysts, Renal cyst, Abnor... ORPHA:284
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Short thumb, Supernumerary tooth,... OMIM:268400
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Duplicated collecting system, Hydroureter, Renal agenesi... OMIM:258040
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth OMIM:618798
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Micromelia, Micrognathia, Aplastic clavicle, Cryptorchidi... ORPHA:2636
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopathy, 3-Methylglutaric ac... ORPHA:26791
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Hydroureter, Horseshoe kidney, Anteriorly p... OMIM:619426
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple,... ORPHA:457279
Hallermann-Streiff Syndrome
Natal tooth, Abnormality of the dentition, Micrognathia, High, narrow palate, Supernumerary tooth... ORPHA:2108
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Dilated cardiomyopathy, Histiocyto... OMIM:300952
Desbuquois Syndrome
Ventricular septal defect, Small hand ORPHA:1425
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, High palate, Microphthalmia, Abnormality of the hypothalamus-pituit... ORPHA:139471
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Diabetes mellitus, Hepatosplenomegaly, Esophagitis, Hydronephrosis ORPHA:541423
Fanconi Anemia, Complementation Group N
Short thumb, Aplastic anemia, Ventricular septal defect, Nephroblastoma OMIM:610832
Lissencephaly 8
Microphthalmia OMIM:617255
Dubowitz Syndrome
Delayed eruption of teeth, Aplastic anemia, Hypospadias, Micrognathia, Carious teeth, Cryptorchid... OMIM:223370
Ileal Neuroendocrine Tumor
Intestinal fistula, Tricuspid stenosis, Lymphadenopathy, Iron deficiency anemia, Small intestine ... ORPHA:100078
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Pulmonary artery st... OMIM:301030
Nance-Horan Syndrome
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... OMIM:302350
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic sinusitis, Ventricular septal defect, Dextrocardia OMIM:616037
Cooper-Jabs Syndrome
Anteriorly placed anus, Malar flattening, Ventricular septal defect, Missing ribs ORPHA:1488
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Micromelia, Hypoplasia of the radius, Short ribs, Long philtrum OMIM:617895
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Downturned corners o... OMIM:617360
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Decreased response to growth hormone stimula... ORPHA:444077
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Proteinuria, Non-acidotic proximal tubulopathy... OMIM:222448
Hallermann-Streiff Syndrome
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, Cr... OMIM:234100
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Isosexual precocious puberty ORPHA:2788
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Dysuria, Abn... ORPHA:35687
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Micrognathia, Biliary hyperplasia, Leukopenia, Aminoaciduria, Pr... OMIM:619991
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Cleft upper lip, Cr... ORPHA:261236
Mend Syndrome
Asymmetry of the mouth, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Hi... ORPHA:401973
Mesomelia-Synostoses Syndrome
Microretrognathia, Micromelia, Micrognathia, Short metatarsal, Short foot, Mesomelia, Hydronephro... OMIM:600383
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Microcolon, Megacystis, Hydronephrosis OMIM:619431
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... ORPHA:110
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congenital malforma... ORPHA:3455
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Downturned corners of mouth, Widely spaced teeth, ... ORPHA:199
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Narrow mouth OMIM:614833
Zttk Syndrome
Absent gallbladder, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Abnormality o... OMIM:617140
Meier-Gorlin Syndrome 7
Urethral stricture, Anal stenosis, Ventricular septal defect, Hypospadias, Aplasia/Hypoplasia of ... OMIM:617063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Knobloch Syndrome 1
Duplicated collecting system, Pyloric stenosis, Patent ductus arteriosus, Phthisis bulbi, Macular... OMIM:267750
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Hypospad... ORPHA:209905
Distal Deletion 19P
Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Short philtrum, Tricuspid val... ORPHA:96129
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism OMIM:601794
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Renal insufficiency, Pancreatic fibrosis, Proteinuria, Pancreatic cysts, ... OMIM:208500
Otopalatodigital Syndrome, Type Ii
Short metacarpal, Hypospadias, Short hallux, Micrognathia, Short thumb, Cryptorchidism, Short met... OMIM:304120
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Microcolon, Megacystis, Fetal megacystis, Hydronephrosis OMIM:619362
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, C... OMIM:620024
Al-Gazali Syndrome
Hydronephrosis, Micrognathia OMIM:609465
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Arterial tortuosity, Abnormal bladder morphology, Patent ductus arteriosus, ... ORPHA:284984
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Aplasia of the thymus, Duodenal atresia ORPHA:3004
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism ORPHA:363741
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect, Hypothyroidism OMIM:619908
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy... OMIM:163950
Frontofacionasal Dysplasia
Microphthalmia, Non-midline cleft lip, Cleft palate ORPHA:1791
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Multicystic kidney dysplasia, Hy... OMIM:107480
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Anemia OMIM:615085
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Po... ORPHA:116
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia OMIM:167730
Genitopatellar Syndrome
Delayed eruption of teeth, Anal stenosis, Multicystic kidney dysplasia, Ventricular septal defect... OMIM:606170
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Cockayne Syndrome
Urinary incontinence, Retinal arteriolar constriction, Abnormal dental morphology, Cryptorchidism... ORPHA:191
Joubert Syndrome 21
Anophthalmia, Splenomegaly, Renal cyst, Short ribs, Hyperechogenic kidneys, Chronic sinusitis OMIM:615636
Myopathy With Extrapyramidal Signs
Splenomegaly, Leukocytosis, Tented upper lip vermilion, Ventricular septal defect OMIM:615673
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Cleft upper lip, Micrognathia, Cryptorchidism, Cleft palate, Buphthalmos,... OMIM:236670
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Bila... OMIM:610828
Oculodentodigital Dysplasia
Mandibular prognathia, Neurogenic bladder, Median cleft lip, Ventricular septal defect, Abnormal ... ORPHA:2710
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:18
Mpdu1-Cdg
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:79323
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Thin upper lip vermilion, Ventricular septal defect, Optic disc hypoplasia, Exa... OMIM:619306
Larsen Syndrome
Short metacarpal, Ventricular septal defect, Cleft upper lip, Cryptorchidism, Short metatarsal, C... OMIM:150250
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Filippi Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Thin vermilion border, Short phi... ORPHA:3255
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Short palm, Hypoplasia of penis, Micromelia, Cleft upper lip, Micrognathia, Esophageal atresia, C... ORPHA:93271
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Chylopericardium, Ly... ORPHA:538
Johanson-Blizzard Syndrome
Anteriorly placed anus, Downturned corners of mouth, Atrial septal defect, Hypoplasia of the prim... OMIM:243800
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, 11 pairs of ribs, Neurogenic bladder, Tented upper lip vermilion, Ventricu... ORPHA:488632
Omodysplasia 1
Short humerus, Ventricular septal defect, Rhizomelia, Micrognathia, Cryptorchidism, Pulmonary art... OMIM:258315
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia of the clavicles, Ureteral duplication, Hypospadias, Dextrocardia... ORPHA:1662
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Orofaciodigital Syndrome Type 14
Microretrognathia, Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Bilat... ORPHA:434179
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Tented philtrum, Renal cyst, B... ORPHA:495875
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Decreased testicular size, Ve... ORPHA:459070
Monosomy 9P
Hypospadias, Abnormality of the dentition, Micrognathia, Cryptorchidism, Cleft palate, High palat... ORPHA:261112
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Dental crowding, Splenomegaly, Patent ductus arteriosus, Downturned co... OMIM:618268
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic a... ORPHA:2396
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Abnormal dental enamel morphology, Microgna... ORPHA:2556
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Aganglionic megacolon, Hypoplasia of the maxilla, Small hand, Oligodon... OMIM:609460
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Pancreatic fibrosis, Micromelia, Hypoplasia of the small intestine, Polyspleni... OMIM:200995
Arima Syndrome
Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Wide mouth, Hematuria, R... OMIM:243910
C Syndrome
Multicystic kidney dysplasia, Accessory oral frenulum, Micrognathia, Micromelia, Cryptorchidism, ... ORPHA:1308
Marshall-Smith Syndrome
Irregular dentition, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Short philtr... OMIM:602535
Chromosome 16P13.3 Duplication Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Micrognathia, Sh... OMIM:613458
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Recurrent urinary tract infections, Ventricular s... OMIM:619229
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Aplasia of ... ORPHA:83471
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Biliary hyperplasia, Hyper... ORPHA:731
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Polycystic kidney dyspl... OMIM:236700
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... OMIM:609942
Skin Creases, Congenital Symmetric Circumferential, 2
Short palm, Thin upper lip vermilion, Hypospadias, Micrognathia, Carious teeth, Cryptorchidism, C... OMIM:616734
Sotos Syndrome
Ureteral duplication, No permanent dentition, Vesicoureteral reflux, Atrial septal defect, Hypoth... ORPHA:821
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Diabetes mellitus, Renal insufficiency, Renal hypoplasia/aplasia, C... ORPHA:261265
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Tented upper lip vermilion, Patent foramen ovale OMIM:614961
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Orofacial cleft, Nephropathy, Ab... ORPHA:1454
Joubert Syndrome 39
Hypoplastic left heart, Polycystic kidney dysplasia OMIM:619562
Holoprosencephaly 2
Median cleft lip and palate, Aplasia of the premaxilla, Diabetes insipidus, Adrenal hypoplasia, S... OMIM:157170
Fraser Syndrome 1
Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowdi... OMIM:219000
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, Hypospadias, Precocious puberty, Long philtrum, Microphthalmia OMIM:615877
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd metacarpal, Aplasi... OMIM:181450
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Lip pit, Supernumerary nipple, Hypodontia, Microphthalmia, Abnormal palate... ORPHA:1236
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B ly... OMIM:102700
Joubert Syndrome 1
Protruding tongue, Renal cyst, Macroglossia, Triangular-shaped open mouth, Nephropathy OMIM:213300
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Renal agenesis, Supernumerary nipple, Cleft upper lip, Malrotation of ... OMIM:113620
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... OMIM:155310
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Sh... ORPHA:466791
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Microcytic anemia OMIM:612379
Pelvis-Shoulder Dysplasia
Microphthalmia, Hypoplastic scapulae, Short clavicles OMIM:169550
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Maternal diabetes, Micrognathia, Cryp... ORPHA:3404
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Micrognathia OMIM:617306
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Early onset of sexual maturation, Atria... OMIM:194050
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hematuria, Micro... OMIM:619525
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasi... OMIM:620330
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Homocystinuria, Dental malocclusion, High palate, Short finger, Microphthalmia, Retrognathia, Mal... OMIM:601552
Diets-Jongmans Syndrome
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cryptorchidism, Wide mouth, Int... OMIM:618846
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Partial anomalous pulmonary... OMIM:301044
Fraser Syndrome
Anal stenosis, Anophthalmia, Dental crowding, Hypoplasia of penis, Multicystic kidney dysplasia, ... ORPHA:2052
Rodrigues Blindness
Microphthalmia, Tooth malposition OMIM:268320
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... OMIM:600740
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Cleft palate, Congenital hypothyroidism, High palate, Short philtrum, Uretero... OMIM:616973
Oculopalatocerebral Syndrome
Microphthalmia, Cleft palate OMIM:257910
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Carious teeth, Spleno... ORPHA:744
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Malabsorption, Hypogonadism, Microphthalmia, Triangular mouth, Retrognathia OMIM:601675
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Malabsorption... ORPHA:50
Pallister-Killian Syndrome
Tented upper lip vermilion, Micrognathia, Renal cyst, Anteriorly placed anus, Short palm, Atrial ... OMIM:601803
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Orofacial cleft, High palate, Atrial septal defect, Patent... OMIM:607872
Spondylocarpotarsal Synostosis Syndrome
Short metacarpal, Hypoplasia of the odontoid process, Cleft palate, Renal cyst, Failure of erupti... OMIM:272460
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria, Increased overbite ORPHA:101000
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Urethral atresia, Short ribs, Hydronephrosis, Anal atresia OMIM:271520
Cerebellofaciodental Syndrome
Ventricular septal defect, Cryptorchidism, Dental malocclusion, Shortening of all distal phalange... OMIM:616202
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ... ORPHA:268261
Keutel Syndrome
Sinusitis, Ventricular septal defect, Short hallux, Short thumb, Deep philtrum, Shortening of all... OMIM:245150
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia ORPHA:2714
Trichothiodystrophy
Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Carious teeth, High, narro... ORPHA:33364
Incontinentia Pigmenti
Hypoplasia of the fovea, Delayed eruption of teeth, Eosinophilia, Supernumerary nipple, Conical t... OMIM:308300
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Cryptorchidism, Pancreatic hyp... OMIM:130650
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul... OMIM:610978
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Dental cro... ORPHA:79329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia OMIM:613150
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia, Bilateral microphthalmos ORPHA:2399
Carpenter Syndrome 2
Dextrocardia, Supernumerary nipple, Situs inversus totalis, High, narrow palate, Carious teeth, P... OMIM:614976
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism... ORPHA:468631
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Renal insufficiency, Hypospadias, Supernumerary nipple, Microgna... ORPHA:397715
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux OMIM:120200
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne... OMIM:619774
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, High, narrow palate, Renal tubular acidosis, Short philtrum, Periphera... OMIM:619575
Microphthalmia, Syndromic 6
Anophthalmia, Female hypogonadism, Adrenal hypoplasia, Micrognathia, Cryptorchidism, Anterior hyp... OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Hypoplasia... OMIM:600373
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Holoprosencephaly 1
Adrenal hypoplasia, Single ventricle, Microphthalmia, Micropenis, Diabetes insipidus, Median clef... OMIM:236100
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Thin upper lip vermilion, Micrognathia, Renal cortical cysts, Downturned corners of mouth, Long p... OMIM:618548
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Pheochromocytoma, Multiple rena... OMIM:193300
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Intracranial hemorrha... OMIM:613406
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Cockayne Syndrome B
Mandibular prognathia, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Cario... OMIM:133540
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Supernu... ORPHA:464
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Long philtrum OMIM:615145
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Accessory spleen, Ventricular septal defect, Splenomegaly, Lymphadenopathy, Hi... OMIM:619418
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... OMIM:616682
Frontonasal Dysplasia 2
Conical tooth, Bilateral cryptorchidism, Widely spaced teeth, Microphthalmia, Broad philtrum OMIM:613451
Warburg Micro Syndrome 2
Microphthalmia, Micropenis, Cryptorchidism OMIM:614225
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Dental crowding, Aganglionic megacolon, Cleft upper lip, Hyp... OMIM:309800
Pierson Syndrome
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... OMIM:609049
Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia ORPHA:2717
Curry-Jones Syndrome
Microphthalmia, Intestinal malrotation ORPHA:1553
Leigh Syndrome
Ventricular septal defect, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Ren... ORPHA:506
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Wolf-Hirschhorn Syndrome
Accessory spleen, Rieger anomaly, Ventricular septal defect, Hypospadias, Short hallux, Cleft upp... OMIM:194190
Monosomy 22Q13.3
Renal dysplasia, Dental crowding, Dental malocclusion, Vesicoureteral reflux, Malar flattening, R... ORPHA:48652
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Abnormality of the dentition ORPHA:1806
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Limb Body Wall Complex
Ventricular septal defect, Aplasia/hypoplasia involving bones of the upper limbs, Abnormality of ... ORPHA:2369
Costello Syndrome
Renal insufficiency, Ventricular septal defect, Micrognathia, Pyloric stenosis, Thick lower lip v... OMIM:218040
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Frontofacionasal Dysplasia
Cleft upper lip, Orofacial cleft, Microphthalmia, Malar flattening, Bifid uvula, Hypoplasia of th... OMIM:229400
Congenital Disorder Of Glycosylation, Type If
Thin vermilion border, Renal cortical cysts OMIM:609180
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Peripheral pulmonary artery stenosis, Long philtrum OMIM:123700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly placed anus, ... ORPHA:26793
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Increased circulating gonadotropin level, High palate OMIM:110100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Short metacarpal, Ventricular septal defect, Bicuspid aortic valve, Micrognathi... OMIM:271640
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Caroli Disease
Splenomegaly, Leukocytosis, Esophageal varix, Polycystic kidney dysplasia, Cholelithiasis ORPHA:53035
Neuroocular Syndrome
Hypoplasia of the fovea, Short uvula, Lens coloboma, Submucous cleft hard palate, Downturned corn... OMIM:619539
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Micrognathia OMIM:619036
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Duplicated collecting system, Ventricular septal defect, Cryptorchidism, High palate, Pulmonic st... OMIM:607721
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Yunis-Varon Syndrome
Micrognathia, Short metatarsal, Short philtrum, High palate, Absent hallux, Micropenis, Patent fo... OMIM:216340
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia OMIM:248450
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Aicardi Syndrome
Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Missing ribs, Precocious puberty, C... OMIM:304050
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Precocious puberty, Cleft palate, Ureterocele, Short finger, Micropeni... ORPHA:1934
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft... OMIM:610188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Multicystic kidney dysplasia, Hydronephrosis, Micropenis, Decreased testicular ... OMIM:615287
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Thick vermilion border, Long philtrum, Atrial septal defect, Microphthalmia, Leukemia ORPHA:2526
Caroli Syndrome
Abnormality of the kidney, Hypersplenism, Leukocytosis, Esophageal varix, Leukopenia, Polycystic ... ORPHA:480520
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Short ribs OMIM:615503
Eisenmenger Syndrome
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic ... ORPHA:97214
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect, Cleft palate OMIM:178110
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retrognathia, Optic nerve hypoplasia OMIM:614643
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Delayed eruption of teeth, Short metacarpal, Hypoplasia of the ulna, Ven... OMIM:143095
Curry-Jones Syndrome
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, 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
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, High, na... OMIM:619475
Craniotubular Dysplasia, Ikegawa Type
Short palm, Ventricular septal defect, Thick lower lip vermilion, Phthisis bulbi, Long philtrum, ... OMIM:619727
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... OMIM:309000
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
High palate, Open mouth, Ventricular septal defect OMIM:614653
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Bilateral microphthalmos, Abnormal circulating folli... ORPHA:93325
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormal dental enamel morphology,... ORPHA:2273
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Ventricular septal defect OMIM:259770
Norrie Disease
Aplasia/Hypoplasia of the lens, Diabetes mellitus, Venous insufficiency, Cryptorchidism, Hypoplas... ORPHA:649
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Short metacarpal, Rhizomelia ORPHA:85167
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy, Small hand OMIM:614947
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Pmm2-Cdg
Mandibular prognathia, Elevated circulating thyroid-stimulating hormone concentration, Intracrani... ORPHA:79318
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism OMIM:610651
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Unilateral renal agenesis, Rena... OMIM:308205
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Microphthalmia,... OMIM:253280
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Monosomy 13Q14
Microphthalmia, Aplasia/Hypoplasia of the thumb, Micrognathia ORPHA:1587
Isolated Arrhinia
Microphthalmia, Hypoplasia of the nasal bone ORPHA:1134
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... OMIM:175780
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia, Anemia OMIM:127000
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum 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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