Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
plexin D1
Synonyms:
b2b553Clo,  b2b1863Clo,  6230425C21Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Plxnd1 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 Plxnd1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Plxnd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Cleft palate, Micrognathia, Hypospadias, Ventricu... OMIM:231060
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis, Truncus arteriosus OMIM:274210
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Platyspondyly, Scoliosis ORPHA:3180
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Intestinal malrotation, Long philtrum, Wide nasal bridge, Short thumb, Pulm... ORPHA:401935
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus OMIM:228940
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Unilateral renal agenesis, Ventricular septal defec... OMIM:601355
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Chromosome 22Q11.2 Deletion Syndrome, Distal
Cleft palate, Malar flattening, Truncus arteriosus, Thin upper lip vermilion, Underdeveloped nasa... OMIM:611867
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Platyspondyly, Hip o... OMIM:604864
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... ORPHA:2064
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, High, narrow palate, Cleft palate, Micrognathia, Ventricular sept... ORPHA:2516
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Spondylocamptodactyly
Cervical platyspondyly, Scoliosis, Camptodactyly of finger, Camptodactyly OMIM:600000
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Intestin... OMIM:616749
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Brachyolmia Type 2
Platyspondyly OMIM:613678
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... ORPHA:1209
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... OMIM:618845
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Overriding aorta, Broad nasal tip, Depressed nasal bridge... OMIM:601927
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Spondyloepiphyseal Dysplasia, Kimberley Type
Delayed skeletal maturation, Genu valgum, Platyspondyly, Genu varum OMIM:608361
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Cardioacrofacial Dysplasia 2
Accessory oral frenulum, Prominent nasal tip, Hypodontia, Atrioventricular canal defect, Short ph... OMIM:619143
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormality of the ankles, Abnormal vertebral morphology, Restricted large joint m... ORPHA:163665
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... OMIM:609223
Spondyloepiphyseal Dysplasia, Stanescu Type
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Platyspondyly, Stiff neck OMIM:616583
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis OMIM:615542
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Hypoplastic left heart, Cleft pa... ORPHA:3426
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Everted lower lip vermilion, Depressed nasal bridge, Micrognathia, Lon... ORPHA:261120
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, Situs inversus... OMIM:615415
Johnson Neuroectodermal Syndrome
Cleft palate, Micropenis, Retrognathia, Hypogonadotropic hypogonadism, Carious teeth, Ventricular... OMIM:147770
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Cor pulmonale, Pierre-Robin sequence OMIM:261800
Stankiewicz-Isidor Syndrome
Absent thumb, Micropenis, Retrognathia, Micrognathia, Hypospadias, Ureteral duplication, Short th... OMIM:617516
Adams-Oliver Syndrome 6
Ventricular septal defect, Renal hypoplasia, Truncus arteriosus OMIM:616589
Microphthalmia, Syndromic 9
Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Micrognathia, Single ventricle, W... OMIM:601186
Morquio Syndrome C
Platyspondyly OMIM:252300
Multiple Synostoses Syndrome 2
Carpal synostosis, Vertebral fusion, Proximal symphalangism, Tarsal synostosis, Humeroradial syno... OMIM:610017
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Dextrocardia, Situs inversus totalis, Hypothyroidism, Goiter, Right aortic arch OMIM:617577
Velocardiofacial Syndrome
Hypoparathyroidism, Underdeveloped nasal alae, Bulbous nose, Velopharyngeal insufficiency, Cleft ... OMIM:192430
Emanuel Syndrome
High palate, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft palate, Low hanging... OMIM:609029
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defec... OMIM:306955
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy ORPHA:3033
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Long philtrum, Microretrognathia OMIM:218010
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Acitretin/Etretinate Embryopathy
High palate, Hypoplastic nasal septum, Median cleft palate, Aplasia/Hypoplasia of the maxilla, Ap... ORPHA:40366
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... ORPHA:3384
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
17Q21.31 Microduplication Syndrome
High palate, Malar flattening, Abnormality of the dentition, Short philtrum, Micrognathia, Short ... ORPHA:217340
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Short nose, Anteverted nares, Thin upper lip vermilion ORPHA:2015
Sonoda Syndrome
Ventricular septal defect, Depressed nasal bridge, Narrow mouth OMIM:270460
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Platyspondyly, Genu varum, Flat acetabular roof, Vertebral... OMIM:617719
Brachydactylous Dwarfism, Mseleni Type
Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality of the ank... ORPHA:2619
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Burn-Mckeown Syndrome
Abnormal cardiac septum morphology, Bilateral choanal atresia, Short nose, Abnormal palate morpho... ORPHA:1200
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Primary Basilar Invagination
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine ORPHA:2285
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Reduced bone mineral density, Platyspondyly, Genu varum, Ir... OMIM:617974
Acrocardiofacial Syndrome
Cleft upper lip, Anal atresia, Mitral stenosis, Atrial septal defect, Hypoplasia of penis, Cleft ... ORPHA:2008
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Cleft palate, Abnormality of lower lip, Micrognathia, Multiple renal cysts, Tetra... ORPHA:1166
Pseudodiastrophic Dysplasia
Phalangeal dislocation, Platyspondyly, Scoliosis, Elbow dislocation ORPHA:85174
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Depressed nasal bridge, Micrognathia, Hypospadias, Tetralogy o... ORPHA:1913
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, H... OMIM:610967
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Depressed nasal ridge, Micrognathia, Tetralogy of Fallot, V... ORPHA:1727
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Micrognathia, Hypoplasia of the thymus, Long philtrum, Ventricular se... OMIM:617022
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... ORPHA:294975
Fetal Minoxidil Syndrome
Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Micrognathia ORPHA:1918
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Emanuel Syndrome
High palate, Cleft palate, Delayed eruption of teeth, Ventricular septal defect, Submucous cleft ... ORPHA:96170
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect, Vascular ring OMIM:603387
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Micropenis, Hypogonadotropic hypogonadism, Pulmonary... ORPHA:2326
Dysspondyloenchondromatosis
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
8P23.1 Duplication Syndrome
Adrenal insufficiency, Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal ... ORPHA:251076
Bruck Syndrome 1
Hip contracture, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Protrusio acetabuli, Joint lax... OMIM:259450
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Micropenis, Renal agenesis, Coarctation of aorta, Ventri... OMIM:264480
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft p... OMIM:220210
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Ellis-Van Creveld Syndrome
Cleft upper lip, Abnormality of the alveolar ridges, Atrial septal defect, Hypodontia, Short ribs... OMIM:225500
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Cyanosis, Abnormal coronary artery morp... ORPHA:980
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... OMIM:605376
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Stroke, Nephropathy, Hematuria, Renal cyst, Dilatation of the cerebral artery, Vascular dilatatio... OMIM:611773
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Platyspondyly OMIM:271600
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... ORPHA:1354
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... OMIM:618316
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Partia... OMIM:619343
Distal Trisomy 14Q
Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Mmep Syndrome
Oral cleft, Ventricular septal defect, Median cleft lip, Mandibular prognathia, Cryptorchidism ORPHA:3434
Diamond-Blackfan Anemia 6
Cleft upper lip, Increased mean corpuscular volume, Atrial septal defect, Cleft palate, Retrognat... OMIM:612561
Pallister-Hall-Like Syndrome
Cleft palate, Short ribs, Micropenis, Depressed nasal bridge, Micrognathia, Micromelia, Anterior ... OMIM:241800
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Squared-off platyspondyly, Precocious costochondral ossification, ... OMIM:271630
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Gingival overgrowth, Atrial septal defect, Pulmonic stenosis, Abno... OMIM:179613
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Hadziselimovic Syndrome
High palate, Anal atresia, U-Shaped upper lip vermilion, Ventricular hypertrophy, Atrial septal d... OMIM:612946
Catel-Manzke Syndrome
Atrial septal defect, Malar flattening, Cleft palate, Glossoptosis, Micrognathia, Ventricular sep... ORPHA:1388
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Monosomy 13Q34
Pulmonic stenosis, Broad nasal tip, Micrognathia, Common atrium, Prominent nose, Prominent nasal ... ORPHA:96168
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Bulbous nose, Atrial septal defect, Malar flattening, Cleft palate, Micrognathia, W... ORPHA:93946
Combined Oxidative Phosphorylation Deficiency 25
Decreased response to growth hormone stimulation test, Depressed nasal bridge, Long philtrum, Sho... OMIM:616430
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:277740
Tetraamelia Syndrome 2
Microretrognathia, Micropenis, Glossoptosis, Micrognathia, Ventricular septal defect, Hypoplastic... OMIM:618021
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Microgn... OMIM:608572
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology, Tooth agenesis, Convex nasal ridge, Micrognathia, Mesomelia, Ab... ORPHA:1277
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Vertebral fusion OMIM:122600
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Atrial septal defect, Renal tubular acidosis, Pulmonic sten... OMIM:610205
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Narrow mouth, Convex nasal ridge, Carious teeth, Downturned corners o... ORPHA:1110
Lethal Osteosclerotic Bone Dysplasia
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Gingival fibromatosis, Sh... ORPHA:1832
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Recurrent viral ... OMIM:616898
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Block vertebrae, Abnormality ... OMIM:613686
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Micrognathia, Short philtrum, Ventricular septal defect, Widely-spaced maxi... OMIM:608227
Microphthalmia, Syndromic 12
Retrognathia, Broad nasal tip, Micrognathia, Hypoplastic left atrium, Ventricular septal defect, ... OMIM:615524
Mental Retardation, X-Linked 91
High palate, Small hand, Short 5th finger, Macrodontia, Short nose, Short foot OMIM:300577
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular septal defect, ... OMIM:249670
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Double outlet right ventricle, Atrial septal defect, Cryptorchidism, Overriding aort... ORPHA:3304
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, A... OMIM:184100
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
Spondylosis, Cervical
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis OMIM:184300
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Hypospadias, Short nose, An... ORPHA:1355
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares OMIM:614069
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Chromosome 14Q11-Q22 Deletion Syndrome
High palate, Narrow mouth, Depressed nasal bridge, Micrognathia, Long philtrum, Ventricular septa... OMIM:613457
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Cryptorchidism, Micropenis, Micrognathia, Trismus, Microphallus, Abnormal heart morphology OMIM:218450
Fetal Encasement Syndrome
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot OMIM:613630
Pseudoachondroplasia
Irregular carpal bones, Platyspondyly, Irregular acetabular roof, Genu valgum, Distal joint laxit... ORPHA:750
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Hypospadias, Tetralogy of Fallot ORPHA:1919
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Distal 22Q11.2 Microdeletion Syndrome
Short distal phalanx of finger, Short palm, Narrow mouth, Atrial septal defect, High, narrow pala... ORPHA:261330
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis OMIM:309620
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Coarctati... OMIM:615502
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, D... ORPHA:1248
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Pursed lips, Malar flattening, Micrognathia, Aglossia, Patent ductus arteri... OMIM:241310
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Glycosuria, Ventricular septal defect, Pancreatic hypoplasia, Microc... OMIM:600001
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Hump-shaped mound of bone in central and posterior portions of vertebral endplat... ORPHA:99642
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Platyspondyly ORPHA:93283
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of finger, Narrow mouth, Precocious puberty, Atrial septal defect, Short dis... OMIM:619356
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility ORPHA:168555
Faciocardiomelic Syndrome
Dental malocclusion, Wide mouth, Depressed nasal bridge, Micrognathia, Hyperplasia of the maxilla... OMIM:612731
Chromosome 16P13.3 Duplication Syndrome
Short toe, Bulbous nose, Atrial septal defect, Malar flattening, Ventricular septal defect, Short... OMIM:613458
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Long philtrum, Tetralogy of Fallot, Short nose, Ventricular hypertrophy OMIM:300887
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Vascular dil... OMIM:617056
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Scoliosis, Genu varum OMIM:618728
Tetralogy Of Fallot
Thin vermilion border, Cryptorchidism, Tetralogy of Fallot ORPHA:3303
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... OMIM:314390
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Anteverted nares, Short nose, Hydronephrosis, Abnormal palate morphology ORPHA:1450
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Vertebral fusion OMIM:221950
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Atrial septal defect, Micropenis, Ventricular septal defect, Short nose, Patent duc... OMIM:613870
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Tetralogy of ... OMIM:190685
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Tooth agenesis, Midshaft hypospadias, Cryptorchidism, Micrognathia, De... ORPHA:2863
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Howell-J... OMIM:613759
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Low hanging columella, Unilateral renal agenes... OMIM:613680
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Everted lower lip vermilion, Depressed nasal bridge, Micrognathi... ORPHA:1695
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Anal atresia, Atrial septal defect, Cryptorchidism, Intestinal malrotation, Long nos... OMIM:617602
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide mouth, Bulbous nose, Abnormal cardiac septum morphology, Cleft palate, Depressed nasal bridg... OMIM:618454
Holzgreve Syndrome
Cleft upper lip, Renal hypoplasia, Hypoplastic left heart, Cleft palate OMIM:236110
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Scoliosis,... OMIM:609813
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Tracheoesophageal fistula, Hypospadias, Coarctation of aorta, V... ORPHA:1923
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Abnormal renal morpho... ORPHA:477817
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Fryns Syndrome
High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Tented upper lip vermi... ORPHA:2059
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hypoplastic acetabulae OMIM:230650
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis OMIM:612847
Rubinstein-Taybi Syndrome 1
High palate, Cleft palate, Premature thelarche, Ventricular septal defect, Hypoplasia of the maxi... OMIM:180849
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Malar flattening, Patent ductus arteriosus, Patent foramen ovale, Vesicoure... OMIM:601450
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Atrial septal defect, Small hand, Depressed nasal bridge, Micrognathia, Long ph... OMIM:145420
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Thin anteverted nares, Abnormal cardiac ventricle morphology, Aortic valve... ORPHA:2306
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Absent thumb, Hand oligodactyly, Intest... OMIM:156810
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Malar flattening, Cleft palate, Short philtrum, Downturned corners of mouth, Ventri... ORPHA:94066
Coffin-Siris Syndrome 10
Anteverted nares, Wide mouth, Ventricular septal defect, Persistence of primary teeth OMIM:618506
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Short toe, Everted lower lip vermilion, Pulmonic stenosis, Long philtrum, Anterior o... OMIM:617877
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Kyphosis, Sclerosis of skull base, Hip contracture, Hyperextensibility of the fi... OMIM:313420
Oculoauriculofrontonasal Syndrome
Narrow mouth, Cleft palate, Micrognathia, Ventricular septal defect, Bifid nasal tip, Cleft lip, ... ORPHA:398156
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia, Renovascular hypertension OMIM:135580
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Biconcave vertebral bodies, Protrusio acetabuli, Joint laxity, Incre... OMIM:613982
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Rhiny
Thin vermilion border, Short nose, Anteverted nares OMIM:180360
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Bicuspid aortic valve, Pulmonic stenosis, Depressed nasal bridge, Coarctation of ao... ORPHA:284169
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot, Abnormal palate morphology, ... ORPHA:1381
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Genu valgum, Platyspondyly, Irregularity of vertebral bodies OMIM:609324
Li-Campeau Syndrome
Atrial septal defect, Cryptorchidism, Micropenis, Long philtrum, Ventricular septal defect, Hypot... OMIM:619189
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
8Q12 Microduplication Syndrome
Narrow mouth, Atrial septal defect, Everted lower lip vermilion, Long philtrum, Ventricular septa... ORPHA:228399
Congenital Tracheomalacia
Atrial septal defect, Tracheoesophageal fistula, Double aortic arch, Esophageal atresia, Recurren... ORPHA:95430
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Abnormality of the dentition, Depressed nasal bridge, Micrognathia OMIM:616901
Femoral-Facial Syndrome
Cleft palate, Short fourth metatarsal, Ventricular septal defect, Short nose, Short fifth metatar... OMIM:134780
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Cleft palate, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Patent ductus art... OMIM:612541
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Avascular necrosis, Joint stiffness, Osteoarthritis, Platyspondyly, Abnormal intervertebral disk ... ORPHA:1345
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Cryptorchidism, Atrioven... ORPHA:251071
Mullegama-Klein-Martinez Syndrome
Abnormal cardiac septum morphology, Bulbous nose, Hypoplastic left heart, Cleft palate, Depressed... OMIM:301022
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, High, narrow palate, Hypoplasia of penis, Retrogn... ORPHA:2849
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Wormian b... ORPHA:2771
Robinow Syndrome, Autosomal Recessive 2
Gingival overgrowth, Bicuspid aortic valve, Triangular mouth, Abnormality of the dentition, Broad... OMIM:618529
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Right ventricular hypertrophy... OMIM:614261
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Tongue fasciculations, Atrial septal defect OMIM:253300
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Progressive Pseudorheumatoid Dysplasia
Joint stiffness, Joint swelling, Kyphoscoliosis, Joint contracture of the hand, Osteoarthritis, P... OMIM:208230
Meier-Gorlin Syndrome 7
Atrial septal defect, Micropenis, Hypospadias, Urethral stricture, Ventricular septal defect, Com... OMIM:617063
Monosomy 18Q
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Short philtrum, Open mouth, Mandib... ORPHA:1600
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Wormia... OMIM:259440
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... OMIM:173900
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... ORPHA:66637
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Knee pain, ... ORPHA:93284
3C Syndrome
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Depressed nasal br... ORPHA:7
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Narrow mouth, Cleft palate, Micrognathia, Short nose, Short foot, Short metacarpal, Wi... OMIM:614078
22Q11.2 Deletion Syndrome
Tricuspid atresia, Cholelithiasis, Bulbous nose, Cleft palate, Abnormality of the dentition, Shor... ORPHA:567
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Pyle Disease
Reduced bone mineral density, Platyspondyly, Scoliosis, Limited elbow extension, Genu valgum OMIM:265900
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Abnormal cardiac septum morphology, Narrow mouth, Short nose ORPHA:2370
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Broad nasal tip, Long nose, Depressed nasal bridge, Dextrotransposition of the great... OMIM:619995
Lowry-Maclean Syndrome
Convex nasal ridge, High, narrow palate, Cleft palate, Atrioventricular canal defect, Retrognathi... ORPHA:2409
Zechi-Ceide Syndrome
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Thin vermilion border, Short ... ORPHA:217017
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Atrial septal defect, Micropenis, Retrognathia, Depressed nasal bridge, Micrognathia... OMIM:618142
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Velopharyngeal insufficiency, Atria... ORPHA:363444
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Feingold Syndrome 2
Intestinal atresia, Short middle phalanx of the 2nd finger, Ventricular septal defect, Short thum... OMIM:614326
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short nose, Short co... OMIM:155050
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Microretrognathia, Atrioventricular canal defect, Micrognathia, Hypospadia... ORPHA:508498
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Dilatation of the cerebral artery, Hepatic cysts OMIM:600666
Digeorge Syndrome
High palate, Hydrocele testis, Cholelithiasis, Cleft palate, Ovarian cyst, Short philtrum, Thromb... OMIM:188400
Diabetic Embryopathy
Cleft palate, Micropenis, Micrognathia, Ureteral duplication, Tetralogy of Fallot, Ventricular se... ORPHA:1926
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Anteverted nares, Thin upper lip vermilion, Smooth philtrum ORPHA:46
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Short palm, Patent ductus arteriosus ORPHA:79094
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect OMIM:618496
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Malar flattening, Aplasia/Hypoplasia of the... ORPHA:52056
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... ORPHA:449400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Pachygyria, Vertebral fusion, Achilles tendon contracture OMIM:606612
1Q21.1 Microduplication Syndrome
Hypospadias, Tetralogy of Fallot ORPHA:250994
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Short neck, Scoliosis OMIM:214300
Mcdonough Syndrome
Dental malocclusion, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Micrognathia... OMIM:248950
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Depressed nasal bridge, Downturned corners of mouth, Ventricular septal def... OMIM:618974
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Micrognathia, Long philtrum, Short nose, Delayed puberty, Anemia ORPHA:2598
Autosomal Recessive Amelia
Abnormal cardiac septum morphology, Hypoplasia of penis, Micrognathia, Acromelia of the lower lim... ORPHA:1027
Catel-Manzke Syndrome
High palate, Cleft upper lip, Cleft palate, Glossoptosis, Micrognathia, Coarctation of aorta, Ven... OMIM:616145
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... ORPHA:2209
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia, Anemia, Ventricular septal defect, Abnormal tricuspid valve... ORPHA:3405
Timothy Syndrome
Depressed nasal bridge, Microdontia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidi... OMIM:601005
Intellectual Developmental Disorder, Autosomal Recessive 73
Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Widely spaced teeth, Patent ... OMIM:619717
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Malar flattening, Retrognathia, Broad nasal tip, Short nose, Open mouth, Enuresis OMIM:613670
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs due to multip... OMIM:615220
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Micropenis, Recurrent upper ... OMIM:300209
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect, Short middle phalanx of finger, Short thumb ORPHA:391646
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Malar flattening, Micropenis, Thin vermilion border, Depressed nasal bridge, Micr... ORPHA:171839
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Everted lower lip vermilion, Depressed nasal bridge, Long philtrum, Posteri... ORPHA:75389
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Dental crowding, Atrial septal defect, Long nose, Short philtrum, Micrognathia, Narr... OMIM:309520
Greenberg Dysplasia
Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... ORPHA:1426
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Decreased circulating osteocalcin level, Wide nose, Short nose, Central diabetes i... OMIM:125700
Lowry-Maclean Syndrome
Convex nasal ridge, Delayed eruption of teeth, Cleft palate, Abnormal heart morphology OMIM:600252
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Atrial septal defect, Atrioventricular canal defect, Micrognathia, Absent radius, T... OMIM:600123
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Intestinal malrotation, Situs i... ORPHA:244
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Depressed nasal bridge, Micrognathia, Aplasia of the proximal phalanges of t... ORPHA:2256
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... ORPHA:2345
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Cryptorchidism, Open mouth OMIM:616816
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Ventricular septal defect, Abnormal heart morphology, Nephrolithiasis, Patent duct... ORPHA:353281
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth, Atrial septal defect, Abnormality of the nares, Ventricular septal de... ORPHA:3469
Pierpont Syndrome
Short toe, Prominent median palatal raphe, Long upper lip, Everted lower lip vermilion, Thin verm... OMIM:602342
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Prune Belly Syndrome
Urogenital sinus anomaly, Atrial septal defect, Abnormality of the ureter, Multicystic kidney dys... ORPHA:2970
Filippi Syndrome
Hypodontia, Low hanging columella, Thin vermilion border, Short philtrum, Microdontia, Ventricula... OMIM:272440
Even-Plus Syndrome
High palate, Anal atresia, Atrial septal defect, Hypodontia, Depressed nasal ridge, Bifid nasal t... OMIM:616854
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Aplasia/Hypoplasia of the radius, Ventricular... ORPHA:2476
Verheij Syndrome
Abnormal cardiac septum morphology, Short 5th finger, Long philtrum, Short nose, Renal cyst, Rena... OMIM:615583
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Tracheoesophageal fistula, H... ORPHA:861
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia, Atrial septal defect OMIM:617408
3P25.3 Microdeletion Syndrome
Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic stenosis, Depressed nasal bridg... ORPHA:435638
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
9q subtelomeric deletion syndrome
Anteverted nares, Short nose, Protruding tongue, Abnormal heart morphology DECIPHER:52
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process ORPHA:85172
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Patent ductus arter... OMIM:618652
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Prominent nasal tip, Cleft palate, Depressed nasal bridge, Micrognathia, Hyperplasia of the maxil... ORPHA:513456
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Dislocated radial head, Knee dislocation, Short neck, Platyspondyl... OMIM:618395
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Scoliosis, Li... ORPHA:93359
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Atrial septal defect, Lymphopenia OMIM:614868
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Osteoporosis of vertebrae, Multiple small vertebral fractures OMIM:156510
Transaldolase Deficiency
Atrial septal defect, Hepatosplenomegaly, Coarctation of aorta, Biventricular hypertrophy, Anemia... ORPHA:101028
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Tracheoesophageal fistula, Horseshoe kidney, Perineal fistula, Anal atresia, Aplas... ORPHA:2538
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal atresia, Peripheral pulmonary artery stenosis, Atrial septal defect, Cleft palate, Shortenin... OMIM:614749
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Pulmonic stenosis, Carious teeth, Deep philtrum, Short nose, Anteverted na... ORPHA:2701
Fetal Valproate Spectrum Disorder
Narrow mouth, Depressed nasal ridge, Thin vermilion border, Long philtrum, Downturned corners of ... ORPHA:1906
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Colitis, Gastritis, Atrial septal defect, Bicuspid aortic v... ORPHA:84064
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Platyspondyly, Short neck, Scolio... OMIM:264180
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the papillary muscles... ORPHA:1329
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Lymphopenia, Enterocolitis, Intestinal atresia, Leukocytosis, Intestinal malrot... OMIM:243150
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Small hand, Multicystic ... OMIM:619980
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
High palate, Dental crowding, Bulbous nose, Atrial septal defect, Retrognathia, Depressed nasal b... OMIM:617061
Craniofacioskeletal Syndrome
Atrial septal defect, Cryptorchidism, Cleft palate, Small hand, Micrognathia, Short philtrum, Hyp... OMIM:300712
Autosomal Dominant Omodysplasia
Hypoplasia of penis, Malar flattening, Cryptorchidism, Depressed nasal bridge, Micrognathia, Shor... ORPHA:93328
Robinow Syndrome, Autosomal Dominant 3
Triangular mouth, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Short nose, An... OMIM:616894
Fetal Alcohol Syndrome
Atrial septal defect, Cleft palate, Micrognathia, Microdontia, Short nose, Non-midline cleft lip,... ORPHA:1915
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Abnormal nasal morphology, Depressed nasal brid... ORPHA:83473
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Micrognathia, Hydroureter, Short nose, Patent ductus arteriosus, Duodenal st... ORPHA:2547
Baraitser-Winter Syndrome 1
Cleft upper lip, Wide mouth, Bicuspid aortic valve, Aortic valve stenosis, Micropenis, Retrognath... OMIM:243310
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect, Renal tubular dysf... OMIM:614886
Nephrotic Syndrome, Type 11
High palate, Nephrotic syndrome, Cleft palate, Diffuse mesangial sclerosis, Micrognathia, Ventric... OMIM:616730
Transaldolase Deficiency
Wide mouth, Atrial septal defect, Splenomegaly, Thin vermilion border, Depressed nasal bridge, Sh... OMIM:606003
20P12.3 Microdeletion Syndrome
Narrow mouth, Atrial septal defect, Malar flattening, Depressed nasal bridge, Long philtrum, Hypo... ORPHA:261295
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Micrognathia, Myxomatous mitral valve degeneration, Aor... OMIM:130090
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Hypoparathyroidism, Narrow palate, Atrial septal defect, Decreased... OMIM:618223
Teebi Hypertelorism Syndrome 2
High palate, Cleft palate, Everted lower lip vermilion, Broad nasal tip, Depressed nasal bridge, ... OMIM:619736
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Depressed nasal bridge, Ventricular septal defect, Cor triatriatum... OMIM:619534
Chung-Jansen Syndrome
High palate, Thin vermilion border, Micrognathia, Short philtrum, Long philtrum, Short nose, Ante... OMIM:617991
Hydrocephaly-Low Insertion Umbilicus Syndrome
Abnormality of the urinary system, Anomalous pulmonary venous return, Patent ductus arteriosus, T... ORPHA:2184
Lujan-Fryns Syndrome
High palate, Atrial septal defect, Abnormality of the dentition, Short philtrum, Micrognathia, Hy... ORPHA:776
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Everted lower lip vermilion, Short philtrum, Short nose, Mandibular prognathia, Thin ... ORPHA:2429
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Intestinal malrotation, Micrognathia, Bifid tongue, Bilateral cleft lip a... ORPHA:2001
Pentasomy X
Abnormal cardiac septum morphology, Small hand, Micrognathia, Patent ductus arteriosus, Short foo... ORPHA:11
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Abnormal nasal bone morphology, Downturned corners of mouth, Bifid nasal ti... ORPHA:521308
Alzahrani-Kuwahara Syndrome
Bulbous nose, Atrial septal defect, Hypodontia, Narrow philtrum, Micrognathia, Hypospadias, Pulmo... OMIM:619268
Clark-Baraitser Syndrome
High palate, Wide mouth, Low hanging columella, Depressed nasal bridge, Short philtrum, Long phil... OMIM:617752
Dental Anomalies And Short Stature
Narrow vertebral interpedicular distance, Platyspondyly, Intervertebral space narrowing, Delayed ... OMIM:601216
Transketolase Deficiency
Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in urine, Ventri... ORPHA:488618
Robinow Syndrome
Dental crowding, Tricuspid atresia, Triangular mouth, Broad nasal tip, Depressed nasal bridge, Ve... ORPHA:97360
Char Syndrome
No permanent dentition, Persistence of primary teeth, Triangular mouth, Depressed nasal ridge, Ev... ORPHA:46627
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, Short 2nd finger, Atrial septal defect, Cleft palate, Secundum atrial septal def... OMIM:600987
Charge Syndrome
Cleft palate, Tracheoesophageal fistula, Hypoplasia of the ulna, Ventricular septal defect, Horse... OMIM:214800
Melanocytic Nevus Syndrome, Congenital
Everted lower lip vermilion, Prominence of the premaxilla, Broad nasal tip, Long philtrum, Deep p... OMIM:137550
Distal Trisomy 5Q
Narrow mouth, Absent thumb, Thin vermilion border, Hypoplasia of the radius, Micrognathia, Hyposp... ORPHA:96097
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Urinary incontinence ORPHA:476126
Bruck Syndrome 2
Flexion contracture, Osteopenia, Platyspondyly, Wormian bones, Elbow flexion contracture, Increas... OMIM:609220
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... ORPHA:1120
Acromicric Dysplasia
Narrow mouth, Bulbous nose, Small hand, Long philtrum, Short nose, Anteverted nares, Short palm, ... ORPHA:969
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Tetralogy of Fallot ORPHA:276422
Multiple Epiphyseal Dysplasia, Beighton Type
Joint stiffness, Thoracic scoliosis, Osteoarthritis, Biconcave vertebral bodies, Abnormal hip joi... ORPHA:166011
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
High palate, Short distal phalanx of finger, Gingival overgrowth, Bulbous nose, Atrial septal def... OMIM:220500
Recombinant 8 Syndrome
Cleft upper lip, Gingival overgrowth, Atrial septal defect, Cryptorchidism, Cleft palate, Abnorma... ORPHA:96167
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Micrognathia, Downturned corners of mouth, Short nose, Anteverted nares, ... OMIM:614744
Stickler Syndrome Type 1
Cleft palate, Long philtrum, Mitral valve prolapse, Short nose, Hypoplasia of the maxilla ORPHA:90653
Heart And Brain Malformation Syndrome
High, narrow palate, Everted lower lip vermilion, Depressed nasal bridge, Ventricular septal defe... OMIM:616920
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect OMIM:614876
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Mental Retardation, Buenos Aires Type
High palate, Wide mouth, Dental malocclusion, Atrial septal defect, Hypospadias, Carious teeth, P... OMIM:249630
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot, Micropenis OMIM:617925
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Wide mouth, Bulbous nose, Macroglossia, Depressed nasal bridge, Downturned corners o... ORPHA:369891
Codas Syndrome
Depressed nasal bridge, Hydroureter, Delayed eruption of teeth, Ventricular septal defect, Short ... ORPHA:1458
German Syndrome
High palate, Abnormal cardiac septum morphology, Everted lower lip vermilion, Depressed nasal bri... ORPHA:2077
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Helsmoortel-Van Der Aa Syndrome
Abnormal heart morphology, Wide mouth, Decreased response to growth hormone stimulation test, Eve... OMIM:615873
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal in... OMIM:619902
Noonan Syndrome 11
Bulbous nose, Atrial septal defect, Pulmonic stenosis, Depressed nasal bridge, Thick vermilion bo... OMIM:618499
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
Frontoocular Syndrome
High palate, Narrow mouth, Atrial septal defect, Narrow philtrum, Pulmonic stenosis, Micrognathia... OMIM:605321
Orofacial Cleft 13
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate OMIM:613857
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... OMIM:313400
Autism Spectrum Disorder Due To Auts2 Deficiency
Narrow mouth, Prominent nasal tip, Atrial septal defect, Retrognathia, Micrognathia, Short philtr... ORPHA:352490
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Carious teeth, Ventricular ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Carious teeth, Ventricular ... ORPHA:353277
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Cyanosis, Dextrocardia, Abnormal hemidiaphragm morphology, Hypoxem... ORPHA:2257
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cleft palate, Micrognathia, Hypoplasia of the thymus, Polycystic kidney dysplasia,... OMIM:214110
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Irregular patellae, Ovoid vertebral bodies, Osteoporotic tarsals, Flat acetabular ... OMIM:609052
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Retrognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Downturned corners o... ORPHA:391372
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Short nose, Thin upper lip vermilion, Smooth philtrum ORPHA:438178
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Atrial septal defect, Aplasia/Hypoplasia of the tongue, Cleft palate, Maxillozygoma... ORPHA:1790
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Aminopterin/Methotrexate Embryofetopathy
Cleft palate, Micrognathia, Micromelia, Tetralogy of Fallot, Pulmonary artery atresia, Ventricula... ORPHA:1908
Microform Holoprosencephaly
Duodenal atresia, Hypoplasia of penis, Cleft palate, Short philtrum, Panhypopituitarism, Maternal... ORPHA:280200
Lessel-Kreienkamp Syndrome
Dental malocclusion, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductu... OMIM:619149
Woods Syndrome
Supernumerary nipple, Low hanging columella, Thin vermilion border, Ventricular septal defect, Wi... OMIM:615236
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Tetralogy of Fallot OMIM:250620
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Increased intervertebral space, Horizontal sacrum, Platyspondyly, Short nec... OMIM:256050
Coffin-Siris Syndrome 5
Short distal phalanx of finger, Wide mouth, Atrial septal defect, Depressed nasal bridge, Short p... OMIM:616938
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Shashi-Pena Syndrome
Retrognathia, Broad nasal tip, Atrial septal defect OMIM:617190
Chromosome 9P Deletion Syndrome
High palate, Depressed nasal bridge, Ventricular septal defect, High, narrow palate, Retrognathia... OMIM:158170
16P12.1P12.3 Triplication Syndrome
Wide mouth, Bulbous nose, Atrial septal defect, High, narrow palate, Malar flattening, Decreased ... ORPHA:485405
C Syndrome
High palate, Wide mouth, Accessory oral frenulum, Renal cortical cysts, Cryptorchidism, Micrognat... OMIM:211750
15Q14 Microdeletion Syndrome
Convex nasal ridge, Atrial septal defect, Cleft palate, Abnormality of the dentition, Short philt... ORPHA:261190
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Limited elbow extension,... OMIM:271650
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis OMIM:184840
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Atrial septal defect, Cleft palate, Malar flattening, Micrognathia, Shor... ORPHA:79113
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Retrognathia, Bifid uvula, Ventri... OMIM:612938
Trigonocephaly With Short Stature And Developmental Delay
High palate, Convex nasal ridge, Ventricular septal defect, Broad alveolar ridges, Wide nasal bridge OMIM:314320
20Q13.33 Microdeletion Syndrome
Bulbous nose, Abnormal cardiac ventricle morphology, Atrial septal defect, Thin vermilion border,... ORPHA:261311
Ohdo Syndrome
Narrow mouth, Thin vermilion border, Depressed nasal bridge, Micrognathia, Long philtrum, Wide na... OMIM:249620
Distal Trisomy 18Q
High palate, Hypoplasia of penis, Micrognathia, Carious teeth, Short nose, Choanal atresia, Antev... ORPHA:1716
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy, High, narrow palate ORPHA:2515
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Cleft palate, Malar flattening, Micrognathia, Ventricular septal defect, De... OMIM:610536
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... ORPHA:210122
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Kleefstra Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Pyloric stenosis, Ventricular septal defec... ORPHA:261494
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Atrial septal defect, Cleft palate, Intestinal malrotation, Broad nasal tip, D... ORPHA:457193
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Scoliosis, Reduced sperm motility OMIM:602271
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Restrictive cardiomyopathy, Abnormality of the dentition, Depressed nasal bridge, Lo... OMIM:615398
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Micromelia, Delayed eruption of ... ORPHA:166272
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... ORPHA:2916
Phaver Syndrome
Depressed nasal bridge, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect... ORPHA:2876
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease, Micrognathia, Long philtrum, Short 5th finger, Short thumb, Rhizo... OMIM:618821
Noonan Syndrome 12
Lymphopenia, Decreased response to growth hormone stimulation test, 11 pairs of ribs, Tetralogy o... OMIM:618624
17P13.3 Microduplication Syndrome
High palate, Narrow mouth, Hypoplasia of penis, Wide nose, Short nose ORPHA:217385
Coffin-Siris Syndrome 6
Atrial septal defect, High, narrow palate, Cleft palate, Retrognathia, Broad nasal tip, Short phi... OMIM:617808
Mosaic Variegated Aneuploidy Syndrome 2
Narrow mouth, Bulbous nose, Duodenal atresia, Atrial septal defect, Decreased response to growth ... OMIM:614114
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Persistence of primary teeth, Atrial septal defect, Persistence of hemoglobin F, R... OMIM:619769
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
High palate, Narrow mouth, Long philtrum, Mitral valve prolapse, Short nose, Patent foramen ovale... OMIM:615539
Abruzzo-Erickson Syndrome
Short toe, Atrial septal defect, Malar flattening, Cleft palate, Hypospadias, Coronal hypospadias... ORPHA:921
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Vertebral fusion ORPHA:313892
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Ventricular septal defect, Broad secondary alveolar ridge, Large beaked nose, Wide n... ORPHA:3369
Diprosopus
Abnormality of the nose, Abnormal cardiac septum morphology, Cleft palate, Non-midline cleft lip ORPHA:1681
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type