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Gene: Plxnd1 MGI:2154244

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

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 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.

Human diseases associated with Plxnd1 (3 diseases)
Human diseases predicted to be associated with Plxnd1 (2076 diseases)

The table below shows human diseases associated to Plxnd1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the tongue, Tooth agenesis, Breast aplasi...	ORPHA:570

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

Disease	Matching phenotypes	Source
Genitopalatocardiac Syndrome	Cleft upper lip, Micrognathia, Right aortic arch, Ventricular septal defect, Renal cyst, Transpos...	OMIM:231060
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o...	OMIM:217095
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ...	OMIM:613854
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation,...	ORPHA:401935
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran...	OMIM:606217
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis, Camptodactyly of finger	ORPHA:3180
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Skraban-Deardorff Syndrome	Depressed nasal bridge, Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilio...	OMIM:617616
Chromosome 22Q11.2 Deletion Syndrome, Distal	Underdeveloped nasal alae, Malar flattening, Truncus arteriosus, Thin upper lip vermilion, Smooth...	OMIM:611867
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve...	OMIM:616749
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Short distal phalanx of finger, Underdeveloped nasal alae, Micrognathia, Abn...	ORPHA:2516
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Short distal phalanx of finger, Underdeveloped nasal alae, Truncus art...	OMIM:601355
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t...	OMIM:618300
Avascular Necrosis Of Femoral Head, Primary, 2	Platyspondyly, Avascular necrosis of the capital femoral epiphysis	OMIM:617383
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ...	OMIM:604864
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Right Atrial Isomerism	Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys...	OMIM:208530
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ...	OMIM:618845
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Depressed nasal bridge, Broad nasal tip, Ventricular septal defect, Thin upper lip vermilion, Ove...	OMIM:601927
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Tricuspid Atresia	Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Persist...	ORPHA:1209
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development	Right aortic arch with mirror image branching	OMIM:107500
Ciliary Dyskinesia, Primary, 53	Polysplenia, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Chronic sinusitis, ...	OMIM:620642
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
Cardioacrofacial Dysplasia 2	Conical tooth, Atrioventricular canal defect, Tented upper lip vermilion, Hypodontia, Prominent n...	OMIM:619143
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Genu valgum, Genu varum, Delayed skeletal maturation	OMIM:608361
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Renal insufficiency, Truncus art...	OMIM:617478
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle, Abnormality of the knee, ...	ORPHA:163665
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Intervertebral space narrowi...	OMIM:609223
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale	OMIM:611363
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Kyphoscoliosis	ORPHA:93304
Double Outlet Right Ventricle	Hypoplastic left heart, Depressed nasal bridge, Aplasia/Hypoplasia of the thymus, Tetralogy of Fa...	ORPHA:3426
Cranioacrofacial Syndrome	Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Verheij Syndrome	Wide nasal bridge, Short 5th finger, Renal hypoplasia, Broad nasal tip, Retrognathia, Long philtr...	OMIM:615583
Pierre Robin Syndrome	Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's bow, Ventr...	ORPHA:261120
8p23.1 deletion syndrome	Abnormal heart morphology, Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricula...	DECIPHER:39
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Small hand, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Retrognathia, Long...	OMIM:300845
Adams-Oliver Syndrome 6	Truncus arteriosus, Renal hypoplasia, Ventricular septal defect	OMIM:616589
Meacham Syndrome	Hypoplastic left heart, Accessory spleen, Horseshoe kidney, Tetralogy of Fallot, Right aortic arc...	OMIM:608978
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie...	OMIM:192430
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,...	ORPHA:860
Stankiewicz-Isidor Syndrome	Absent thumb, Short thumb, Retrognathia, Prominent nose, Micrognathia, Cryptorchidism, Ventricula...	OMIM:617516
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Centrilobular ground-glass opacification on pulmonary HRCT, Interlobular septal thickening, Pulmo...	OMIM:265450
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect	OMIM:217085
Morquio Syndrome C	Platyspondyly	OMIM:252300
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr...	OMIM:610017
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis	OMIM:613702
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis	OMIM:616566
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Ciliary Dyskinesia, Primary, 37	Goiter, Situs inversus totalis, Right aortic arch, Chronic rhinitis, Hypothyroidism, Dextrocardia	OMIM:617577
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation	OMIM:600195
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox...	OMIM:253300
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Wide nasal bridge, Renal hypoplasia, Right aortic arch with mirror image...	OMIM:601186
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Vertebral wedging, Stiff neck, Joint stiffness, Kyphoscoliosis, Beaking of vertebr...	OMIM:616583
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts	ORPHA:3033
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor...	ORPHA:99050
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Acitretin/Etretinate Embryopathy	Hypoplastic nasal septum, Atrioventricular canal defect, Anteverted nares, Micrognathia, Conotrun...	ORPHA:40366
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Pulmonary edema, Atrial s...	ORPHA:980
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Hepatic cysts, Truncu...	OMIM:615415
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platy...	OMIM:271530
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Megabladder, Congenital	Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr...	OMIM:618719
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Micrognathia, Thin upper lip vermilion, Short nose, Cleft palate	ORPHA:2015
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	ORPHA:228190
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus	OMIM:615542
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Vertebral wedging, Advanced ossification of carpal bones, Flat acetabular roof, Ge...	OMIM:617719
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Increased bone mineral density, ...	ORPHA:2777
Emanuel Syndrome	Aortic valve stenosis, Micrognathia, Cryptorchidism, Ventricular septal defect, Delayed eruption ...	OMIM:609029
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary arterial hypertension, Centrilobular ground-glass opacification on pulmonary HRCT, Pulm...	OMIM:234810
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Limitation of joint mobi...	ORPHA:2619
17Q21.31 Microduplication Syndrome	Abnormality of the dentition, Anteverted nares, Micrognathia, Malar flattening, Delayed puberty, ...	ORPHA:217340
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
Burn-Mckeown Syndrome	Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,...	ORPHA:1200
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Asbestos Intoxication	Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis...	ORPHA:2302
22Q11.2 Duplication Syndrome	Interrupted aortic arch, Hypoplastic left heart, Depressed nasal ridge, Aplasia/Hypoplasia of the...	ORPHA:1727
Primary Basilar Invagination	Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck	ORPHA:2285
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul...	OMIM:607941
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Delayed skeletal maturation, Irregular acetabular roof, Reduced bone mineral densi...	OMIM:617974
Bronchopulmonary Dysplasia	Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestrat...	ORPHA:70589
Acrocardiofacial Syndrome	Wide nasal bridge, Cleft upper lip, Tetralogy of Fallot, Mitral stenosis, Cryptorchidism, Ventric...	ORPHA:2008
Fetal Trimethadione Syndrome	Depressed nasal bridge, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Transpositi...	ORPHA:1913
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus	ORPHA:1208
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Flexion contracture, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos...	OMIM:618469
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Pulmonary fibrosis, De...	ORPHA:254361
Pseudodiastrophic Dysplasia	Platyspondyly, Phalangeal dislocation, Scoliosis, Elbow dislocation	ORPHA:85174
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis	OMIM:615872
Aneurysm Of Interventricular Septum	Abnormal ventricular septum morphology	OMIM:105805
Eng-Strom Syndrome	Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac septum morphology, Congenital ...	ORPHA:294975
Emanuel Syndrome	Aortic valve stenosis, Tooth malposition, Micrognathia, Cryptorchidism, Ventricular septal defect...	ORPHA:96170
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:249670
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Tetralogy of Fallot, Micrognathia, Vesicoureteral reflux, Abnormal aortic morphol...	ORPHA:1166
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious...	OMIM:271630
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	OMIM:604381
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Fetal Minoxidil Syndrome	Depressed nasal bridge, Micrognathia, Cryptorchidism, Ventricular septal defect	ORPHA:1918
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation...	OMIM:615524
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidism, A...	ORPHA:2326
White Forelock With Malformations	Atrial septal defect	OMIM:277740
Primary Ciliary Dyskinesia	Abnormal sperm motility, Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal...	ORPHA:244
Nephronophthisis 16	Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise...	OMIM:615382
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl...	ORPHA:79126
Osteogenesis Imperfecta, Type V	Platyspondyly, Osteopenia, Vertebral wedging, Anterior radial head dislocation, Biconcave vertebr...	OMIM:610967
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys...	ORPHA:2299
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Genu valgum, Kyphos...	ORPHA:85198
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m...	ORPHA:1354
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa...	ORPHA:1909
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Coarctation of aorta, Right aortic arch	OMIM:140850
8P23.1 Duplication Syndrome	Long philtrum, Tetralogy of Fallot, Adrenal insufficiency, Ventricular septal defect, Hydronephro...	ORPHA:251076
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect	ORPHA:254351
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Nemaline Myopathy 9	High palate, Micrognathia, Cleft palate, Ventricular septal defect	OMIM:615731
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Vascular ring, Ventricular septal defect	OMIM:603387
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular...	ORPHA:229
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Complete atrioventricular canal defect	OMIM:619142
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Ground-glass opacification, Cystic pattern on pulmonary HRCT, Parenchymal consolidat...	OMIM:610978
Ellis-Van Creveld Syndrome	Natal tooth, Delayed eruption of teeth, Cleft upper lip, Cryptorchidism, Short ribs, Hypodontia, ...	OMIM:225500
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:617992
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ...	OMIM:220210
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,...	ORPHA:2306
Lethal Congenital Contracture Syndrome 10	Narrow palate, Long philtrum, Micrognathia, Ventricular septal defect, Cardiomegaly, Hypoplasia o...	OMIM:617022
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Lissencephaly, Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Recombinant Chromosome 8 Syndrome	Abnormality of the dentition, Downturned corners of mouth, Thick lower lip vermilion, Tetralogy o...	OMIM:179613
Pseudotrisomy 13 Syndrome	Renal hypoplasia, Renal agenesis, Complete atrioventricular canal defect, Ventricular septal defe...	OMIM:264480
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pericardium morphology, Abnor...	ORPHA:2357
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae	ORPHA:1436
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Tooth agenesis, Micrognathia, Abnormal palate morphology, Abnormal mitral valve morphology, Conve...	ORPHA:1277
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ...	ORPHA:261243
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Platyspondyly, Hip osteoarthritis, Osteoarthritis	OMIM:271600
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Retrognathia, Anteverted nares, Gingival overgrowth, Median cleft palate, ...	ORPHA:1832
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok...	ORPHA:1457
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal lung lobation, Atrioventricular canal defect, Tricuspid regurgitation, Congenital diaphr...	ORPHA:1120
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Bifid uvula, Increased mean corpuscular volume, Short thumb, Cleft upper...	OMIM:612561
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Right ve...	ORPHA:199241
Monosomy 13Q34	Epistaxis, Broad nasal tip, Prominent nose, Prominent nasal bridge, Micrognathia, Common atrium, ...	ORPHA:96168
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic...	ORPHA:2248
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Cardiomyopathy, Dilated, 2J	Dilated cardiomyopathy, Secundum atrial septal defect	OMIM:620635
Spondylocostal Dysostosis 5	Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis	OMIM:122600
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death	OMIM:601612
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu...	OMIM:605376
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Intestinal malrotation, Dextrotransposition of the grea...	OMIM:619657
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of...	ORPHA:1110
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re...	ORPHA:99105
Hamel Cerebro-Palato-Cardiac Syndrome	Wide nasal bridge, Bulbous nose, Micrognathia, Narrow mouth, Malar flattening, Atrial septal defe...	ORPHA:93946
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Alagille Syndrome 2	Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,...	OMIM:610205
Mmep Syndrome	Cryptorchidism, Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Mandibular pr...	ORPHA:3434
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Hadziselimovic Syndrome	Ventricular hypertrophy, Renal hypoplasia, Thick lower lip vermilion, Tetralogy of Fallot, Anteve...	OMIM:612946
Weiss-Kruszka Syndrome	Abnormal heart morphology, Decreased response to growth hormone stimulation test, Cryptorchidism,...	ORPHA:502430
Catel-Manzke Syndrome	Oral synechia, Micrognathia, Malar flattening, Ventricular septal defect, Atrial septal defect, G...	ORPHA:1388
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Short distal phalanx of...	ORPHA:1248
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dilatation of the cerebral artery, Renal cyst	OMIM:174050
Burn-Mckeown Syndrome	Unilateral renal agenesis, Renal hypoplasia, Choanal atresia, Bifid uvula, Bilateral choanal atre...	OMIM:608572
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Atrial septal defect, Short p...	OMIM:608227
Congenital Heart Defects, Multiple Types, 3	Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal...	OMIM:614954
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Small hand, Macrodontia, High palate, Short foot, Short nose	OMIM:300577
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit...	OMIM:614262
You-Hoover-Fong Syndrome	Vascular ring, Coarctation of aorta, Double aortic arch, Cleft palate, Accessory oral frenulum	OMIM:616954
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th...	OMIM:184100
Chromosome 15Q14 Deletion Syndrome	Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Ventri...	OMIM:616898
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Hypospadi...	ORPHA:1355
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Tetralogy of Fallot, Cryptorchidism, Thin upper lip vermilion, Persistent left superior vena cava...	ORPHA:3304
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ...	ORPHA:392
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ...	OMIM:615297
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Pterygium, Elbow flexion contracture...	OMIM:259450
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear...	ORPHA:3400
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Spondylosis, Cervical	Spondylolysis, Spondylolisthesis, Osteoarthritis, Cervical spondylosis, Spina bifida occulta	OMIM:184300
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Absent gallbladder, Ventricular septal defect, Atrial septal de...	OMIM:600001
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Choanal atresia, Short distal phalanx of finger, Underdeveloped nasal alae, ...	ORPHA:261330
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septa...	OMIM:618506
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Small hand, Aortic root aneurysm, Natal tooth, Long ph...	OMIM:145420
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar flattening, Choanal stenosi...	OMIM:241310
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect	OMIM:614475
Meconium Aspiration Syndrome	Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Intrauterine growth retardati...	ORPHA:70588
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty, Short distal phalanx of finger, Anteverted nares, Micrognathia, Narrow mouth,...	OMIM:619356
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Renal hypoplasia, Partial atrioventricular canal defect, Renal insufficie...	OMIM:615996
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	ORPHA:99642
Phenobarbital Embryopathy	Tetralogy of Fallot, Hypospadias, Abnormal mitral valve morphology	ORPHA:1919
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Cleft palate	ORPHA:217
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Ventricular septal defect	OMIM:209770
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis	ORPHA:93283
Isolated Polycystic Liver Disease	Multiple renal cysts, Vascular dilatation	ORPHA:2924
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Anteverted nares, Abnormal palate morphology, Hydronephrosis, Short nose	ORPHA:1450
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility	ORPHA:168555
Faciocardiomelic Syndrome	Depressed nasal bridge, Dental malocclusion, Long philtrum, Hyperplasia of the maxilla, Anteverte...	OMIM:612731
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Cardiomyopathy, Dilated, 1Gg	Left ventricular noncompaction, Dilated cardiomyopathy	OMIM:613642
Tetrasomy 15Q26	Microretrognathia, Horseshoe kidney, Hydronephrosis, Atrial septal defect, High palate, Hypoplast...	OMIM:614846
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv...	OMIM:615067
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Abnormal heart morphology, Horseshoe...	OMIM:301111
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Renal hypoplasia, Ureteral stenosis, Atrioventricular ca...	OMIM:270100
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Cryptorchidism, Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1074
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Cryptorchidism, Everted lower lip vermilion, Convex nasal r...	ORPHA:1695
Progressive Pseudorheumatoid Arthropathy Of Childhood	Joint contracture of the hand, Limitation of joint mobility, Genu valgum, Beaking of vertebral bo...	ORPHA:1159
Fetal Encasement Syndrome	Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney	OMIM:613630
Short Stature-Wormian Bones-Dextrocardia Syndrome	Midshaft hypospadias, Wide nasal bridge, Broad alveolar ridges, Delayed eruption of teeth, Tooth ...	ORPHA:2863
Tetralogy Of Fallot	Tetralogy of Fallot, Cryptorchidism, Thin vermilion border	ORPHA:3303
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Conot...	ORPHA:3097
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa...	OMIM:612158
Left Ventricular Noncompaction 10	Left ventricular noncompaction, Dilated cardiomyopathy	OMIM:615396
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Holzgreve Syndrome	Hypoplastic left heart, Renal hypoplasia, Cleft palate, Cleft upper lip	OMIM:236110
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Vertebral segmentation defect	ORPHA:2956
Waardenburg Syndrome Type 3	Atrial septal defect, Atelectasis, Camptodactyly of finger	ORPHA:896
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Renal insufficiency, Hematuria,...	OMIM:611773
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial...	OMIM:601493
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst, Vascular dil...	OMIM:617056
Christian Syndrome	Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae	OMIM:309620
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:477817
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypospadias, Patent ductus arter...	OMIM:618316
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Narrow mouth, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Thin ver...	OMIM:615502
Rubinstein-Taybi Syndrome 1	Micrognathia, Narrow mouth, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Atr...	OMIM:180849
Aortic Valve Disease 3	Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect	OMIM:618496
Pierre Robin Syndrome And Oligodactyly	Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence	OMIM:172880
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Bulbous nose, Prominent nasal bridge, Ventricular septal defect, Aganglionic megacolon, Atrial se...	OMIM:613870
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Irregular vertebral endplates, Lumbar scoliosis, Kyphoscoliosis	OMIM:612847
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Fryns Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Anal atresia, High palate, Hypospadia...	ORPHA:2059
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Ankyloglossia, Micrognathia, Amelia, Ventricular septal defect,...	OMIM:618021
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Secundum atrial septal defect	OMIM:620203
Thomas Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Beaulieu-Boycott-Innes Syndrome	Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Hors...	OMIM:613680
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Down Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten...	OMIM:190685
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Choanal atresia, Depressed nasal bridge, Abnormal heart morphology, Bulb...	ORPHA:284169
Immunodeficiency 42	Hypoplasia of the thymus, Recurrent aphthous stomatitis, Splenomegaly	OMIM:616622
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp...	OMIM:106700
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Downturned corners of mouth, Malar flattening, Ventricular septal defect, Ectopic anus, Aplasia/H...	ORPHA:94066
Methimazole Embryofetopathy	Choanal atresia, Abnormality of the thyroid gland, Abnormal aortic morphology, Ventricular septal...	ORPHA:1923
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu...	ORPHA:66637
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Sclerosis of skull base, Hip contracture, Knee flexion contracture, Thoracolumbar ...	OMIM:313420
Hydrocephaly-Low Insertion Umbilicus Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return	ORPHA:2184
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Pulmonary sequestration, Atrial septal defect, Ventricular septal defect	OMIM:618330
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Diabetes Insipidus, Neurohypophyseal	Long philtrum, Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose, W...	OMIM:125700
Rhiny	Thin vermilion border, Anteverted nares, Short nose	OMIM:180360
Congenital Tracheomalacia	Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Abnormal hear...	ORPHA:95430
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep...	OMIM:614980
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack,...	ORPHA:99104
Bruck Syndrome	Platyspondyly, Pterygium, Joint stiffness, Recurrent fractures, Wormian bones, Osteoporosis, Scol...	ORPHA:2771
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul...	OMIM:613759
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Scoliosis, Genu varum	OMIM:618728
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Platyspondyly, Genu valgum, Irregularity of vertebral bodies	OMIM:609324
Fibromuscular Dysplasia, Arterial	Stroke, Renovascular hypertension, Arterial fibromuscular dysplasia, Aortic dissection	OMIM:135580
Li-Campeau Syndrome	Long philtrum, Patellar hypoplasia, Cryptorchidism, Patent foramen ovale, Ventricular septal defe...	OMIM:619189
C1Q Deficiency 2	Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis, Vasculitis in the skin	OMIM:620321
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot, Cryptorchidism, Abnormal palate morphology, Anal atresia, Hypoplasia of peni...	ORPHA:1381
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Aortic Aneurysm, Familial Thoracic 4	Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi...	OMIM:132900
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Recurrent fractures, Bowing of limbs due to multiple fractures, Decreased calvaria...	OMIM:259440
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Neutropenia, High palate, Patent duc...	OMIM:612541
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Recurre...	ORPHA:730
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Joint stiffness, Osteoarthritis, Abnormal intervertebral disk morphology, Avascula...	ORPHA:1345
8Q12 Microduplication Syndrome	Wide nasal bridge, Long philtrum, Vesicoureteral reflux, Narrow mouth, Ventricular septal defect,...	ORPHA:228399
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial sept...	ORPHA:567
Perlman Syndrome	Wide nasal bridge, High, narrow palate, Retrognathia, Abnormal pancreas morphology, Anteverted na...	ORPHA:2849
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Aortic root aneurysm, Downturned corners of mouth, Dental crowding, Intestinal mal...	OMIM:617602
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Wide nasal bridge, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atri...	ORPHA:251071
Oculoauriculofrontonasal Syndrome	Bifid nasal tip, Cleft lip, Underdeveloped nasal alae, Micrognathia, Narrow mouth, Ventricular se...	ORPHA:398156
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Greenberg Dysplasia	Platyspondyly, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossification, Decrease...	ORPHA:1426
Monosomy 18Q	Aortic valve stenosis, Open mouth, High palate, Patent ductus arteriosus, Downturned corners of m...	ORPHA:1600
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic ki...	OMIM:173900
Spondyloepiphyseal Dysplasia Tarda	Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Inter...	ORPHA:93284
Digeorge Syndrome	Micrognathia, Ovarian cyst, Ventricular septal defect, High palate, Patent ductus arteriosus, Hig...	OMIM:188400
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:261183
Femoral-Facial Syndrome	Micrognathia, Cryptorchidism, Ventricular septal defect, Aplasia/hypoplasia of the femur, Polycys...	OMIM:134780
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho...	ORPHA:555874
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:613780
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Carious teeth, Natal tooth, Cryptorchidism, Ventricular septal defect, Bic...	ORPHA:353281
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Dental crowding, Short toe, Long philtrum, Short 5th metacarpal, Anteverted nares, Anterior open-...	OMIM:617877
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla...	OMIM:208230
9q subtelomeric deletion syndrome	Abnormal heart morphology, Anteverted nares, Protruding tongue, Short nose	DECIPHER:52
1Q21.1 Microduplication Syndrome	Tetralogy of Fallot, Hypospadias	ORPHA:250994
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Lowry-Maclean Syndrome	Abnormal heart morphology, Cleft palate, Delayed eruption of teeth, Convex nasal ridge	OMIM:600252
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Wide nasal bridge, Hypospadias, Renal hypoplasia, Short 5th finger, Microretrognathia, Mandibular...	ORPHA:508498
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect	OMIM:113301
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Thin vermilion border, Narrow mouth, Abnormal cardiac septum morphology, Short nose	ORPHA:2370
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive heart failur...	ORPHA:90308
Lowry-Maclean Syndrome	High, narrow palate, Choanal atresia, Talon cusp, Pyloric stenosis, Hypoplasia of the maxilla, Do...	ORPHA:2409
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Hy...	ORPHA:449400
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae	OMIM:214300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Long philtrum, Anteriorly place...	OMIM:618494
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis, Situs inversus totalis	OMIM:614844
3C Syndrome	Aortic valve stenosis, Micrognathia, Abnormal mitral valve morphology, Ventricular septal defect,...	ORPHA:7
Even-Plus Syndrome	Depressed nasal ridge, Renal hypoplasia, Bifid nasal tip, Vesicoureteral reflux, Patent foramen o...	OMIM:616854
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Unilateral renal agenesis, Depressed nasal bridge, Retrognathia, Crossed fused renal ectopia, Mic...	OMIM:618142
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T...	ORPHA:70587
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial...	ORPHA:216694
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular...	OMIM:616276
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Retrognathia, Open mouth, Malar flattening, Enuresis, Short nose	OMIM:613670
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Sho...	OMIM:155050
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal stenosis, Carpal s...	OMIM:178110
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ...	OMIM:113000
Mitochondrial Myopathy And Sideroblastic Anemia	Long philtrum, Micrognathia, Delayed puberty, Anemia, High palate, Short nose	ORPHA:2598
Adenylosuccinate Lyase Deficiency	Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose	ORPHA:46
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary...	OMIM:265380
Autosomal Recessive Amelia	Micrognathia, Amelia, Acromelia of the lower limbs, Cryptorchidism, Orofacial cleft, Abnormal car...	ORPHA:1027
Grange Syndrome	Arterial stenosis, Patent ductus arteriosus, Short palm, Ventricular septal defect	ORPHA:79094
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa...	OMIM:620135
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl...	OMIM:619313
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Abnormality of the dentition, Carious teeth, Dental malocclusion, Velo...	ORPHA:363444
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Atrial septal defect	OMIM:620247
Dental Anomalies And Short Stature	Platyspondyly, Delayed skeletal maturation, Herniation of intervertebral nuclei, Intervertebral s...	OMIM:601216
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate	ORPHA:2016
Feingold Syndrome 2	Short thumb, Short middle phalanx of the 2nd finger, Ventricular septal defect, Intestinal atresi...	OMIM:614326
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Bulbous nose, Ventricular...	OMIM:620511
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, Cryptorchidism, High palate, Rectovaginal fistula, Thyroid...	ORPHA:861
Zechi-Ceide Syndrome	Wide nasal bridge, Short distal phalanx of finger, Cleft lip, Downturned corners of mouth, Abnorm...	ORPHA:217017
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scoliosis, Recurre...	OMIM:615220
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Hydronephrosis, Persistent left superior vena cava, Urethral atres...	OMIM:314390
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Renal hypoplasia, Long philtrum, Anteverted nares, Short columella, Thin ...	ORPHA:171839
Diabetic Embryopathy	Tetralogy of Fallot, Micrognathia, Abnormal aortic morphology, Abnormality of the pulmonary arter...	ORPHA:1926
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Multiple joint dislocation, Knee dislocation, Joint hypermobility, Narrow vertebra...	OMIM:618395
Temple-Baraitser Syndrome	Depressed nasal bridge, Short distal phalanx of finger, Downturned corners of mouth, Long philtru...	OMIM:611816
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Tricuspid re...	OMIM:620233
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Short neck, Abnormal sacrum...	ORPHA:2345
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Vascular dilatation	OMIM:614859
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Micrognathia, Bicuspid aortic valve, Atrial septal defect, High palate, Patent ductus arteriosus,...	OMIM:612474
Pierpont Syndrome	Broad nasal tip, Short toe, Widely spaced teeth, Short finger, Thin vermilion border, Prominent m...	OMIM:602342
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes...	ORPHA:3405
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Abnormal cortical gyration, Skeletal muscle atrop...	OMIM:616867
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate	OMIM:119540
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Left Ventricular Noncompaction 8	Left ventricular noncompaction, Dilated cardiomyopathy	OMIM:615373
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Long philtrum, Tetralogy of Fallot, Atrial septal defect, Short nose	OMIM:300887
Intellectual Developmental Disorder, Autosomal Recessive 73	Widely spaced teeth, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Patent ...	OMIM:619717
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Li-Ghorbani-Weisz-Hubshman Syndrome	Depressed nasal bridge, Downturned corners of mouth, Prominent nasal bridge, Ventricular septal d...	OMIM:618974
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Abnormality of the spleen, Esophagitis, Amelia, Perineal fistula, A...	ORPHA:2538
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Tetralogy of Fallo...	ORPHA:2970
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Keratoconus Posticus Circumscriptus	Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion	OMIM:244600
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Cyanosis, Myopathy	ORPHA:91130
Maternal Phenylketonuria	Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect...	ORPHA:2209
Pericardial And Diaphragmatic Defect	Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal...	ORPHA:2847
Pyle Disease	Platyspondyly, Genu valgum, Limited elbow extension, Reduced bone mineral density, Cubitus valgus...	OMIM:265900
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca...	OMIM:619371
Intellectual Developmental Disorder, Autosomal Recessive 79	Wide nasal bridge, Broad nasal tip, Ventricular septal defect, Thin upper lip vermilion, Smooth p...	OMIM:620393
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Periventricular Nodular Heterotopia 7	Microretrognathia, Dental crowding, Anteverted nares, Micrognathia, Narrow mouth, Cryptorchidism,...	OMIM:617201
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Dextrotransposition of the great arte...	OMIM:619995
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Coarctation of aorta, Cleft palate	OMIM:620210
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect	OMIM:126320
Cutis Laxa, Autosomal Recessive, Type Ic	Wide nasal bridge, Accessory spleen, Peripheral pulmonary artery stenosis, Multiple bladder diver...	OMIM:613177
Pseudodiastrophic Dysplasia	Platyspondyly, Hypoplasia of the odontoid process, Elbow dislocation, Tongue-like lumbar vertebra...	OMIM:264180
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Malar flattening, Atrial septal defect, Aplasia/Hypopla...	ORPHA:52056
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Filippi Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Serrated incisors, Abnormal dental morphology, Cryp...	OMIM:272440
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Peripheral pulmonary artery stenosis, Broad nasal tip, Anal stenosis, Vesicour...	OMIM:614749
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Elbow contracture, Hyperlordosis, Achilles tendon contracture, Pachygyria, Vertebral fusion, Scol...	OMIM:606612
Timothy Syndrome	Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric...	OMIM:601005
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Bilateral cryptorchidism, Prominent nasal bridge, Patent foramen ova...	OMIM:618652
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Depressed nasal bridge, Renal hypoplasia, Long philtrum, Anteverted nares, Ventricular septal def...	ORPHA:75389
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b...	ORPHA:1906
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Hypoplastic left heart, Intestinal malrotation, Micrognathia, Abnormal aortic morphology, Bilater...	ORPHA:2001
Clark-Baraitser Syndrome	Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Exaggerated...	OMIM:617752
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v...	OMIM:619736
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Dental crowding, Narrow nose, Narrow nasal bridge, Prominent nasal bri...	OMIM:309520
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro...	OMIM:137550
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta, Facial palsy	OMIM:107550
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Everted upper lip vermilion, Hyperplasia of the maxilla, Widely spaced te...	ORPHA:513456
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Hypoplasia of the odontoid process, Irregularity of vertebral bodies	ORPHA:85172
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Ventricular septal defect, Short hallux, Dysplastic aortic valve, Cl...	ORPHA:508488
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Anteverted nares, Cryptorc...	ORPHA:2701
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Thrombocytosis, Leukocytosis...	OMIM:243150
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Depressed nasal bridge, Dental crowding, Retrognathia, Long philtrum, Bulbous ...	OMIM:617061
3P25.3 Microdeletion Syndrome	High, narrow palate, Depressed nasal bridge, Acromesomelia, Mandibular prognathia, Downturned cor...	ORPHA:435638
Perching Syndrome	Camptodactyly, Cyanosis, Joint contracture	OMIM:617055
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Aplasia of the proximal phalanges of...	ORPHA:2256
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Osteoporosis of vertebrae	OMIM:156510
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Long philtrum, Ventricular septal defect, Thin upper lip vermilion, Bicuspi...	OMIM:616652
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Renal tubular dysf...	OMIM:614886
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather...	ORPHA:494424
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Wide nasal bridge, Retrognathia, Long philtrum, Cleft upper lip, Anteverte...	OMIM:243310
Robinow Syndrome	Flared nostrils, Tooth malposition, Multicystic kidney dysplasia, Ankyloglossia, Marked delay in ...	ORPHA:97360
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Coarctation of aorta, Atrial septal defect, Thromb...	ORPHA:101028
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Depressed nasal bridge, Narrow mouth, Ventricular septal defect, Abnormal nasal morphology, Abnor...	ORPHA:83473
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Secundum atrial septal defect, Cleft upper lip, Tented upper lip vermilion, Ven...	OMIM:600987
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ventricular sept...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ventricular sept...	ORPHA:353277
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Severe platyspondyly, Re...	OMIM:620639
Aortic Aneurysm, Familial Thoracic 8	Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort...	OMIM:615436
Bardet-Biedl Syndrome 16	Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia	OMIM:615993
Syndromic Diarrhea	Wide nasal bridge, Peripheral pulmonary artery stenosis, Renal hypoplasia, Abnormal heart morphol...	ORPHA:84064
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Fetal Alcohol Syndrome	Anteverted nares, Micrognathia, Microdontia, Thin upper lip vermilion, Smooth philtrum, Atrial se...	ORPHA:1915
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Cryptorchidism, Ventricular septal defect, Micropenis, Patent ductus arteriosus, Sh...	OMIM:616894
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Vesicoureteral reflux, Patent foramen ...	OMIM:614261
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Duodenal stenosis, Micrognathia, Hypoplasia of penis, Patent ductus arteriosus, Shor...	ORPHA:2547
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Long philtrum, Micrognathia, Malar flat...	ORPHA:93328
Congenital Myopathy 11	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Weakness of facial musculature	OMIM:619967
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum, Wid...	ORPHA:2429
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Open mouth, ...	OMIM:614744
Craniofacioskeletal Syndrome	Interrupted aortic arch, Choanal atresia, Small hand, Micrognathia, Hypoplastic frontal sinuses, ...	OMIM:300712
Braddock-Carey Syndrome 1	Wide nasal bridge, Multicystic kidney dysplasia, Small hand, Anteriorly placed anus, Anteverted n...	OMIM:619980
Bruck Syndrome 2	Platyspondyly, Osteopenia, Elbow flexion contracture, Pterygium, Increased susceptibility to frac...	OMIM:609220
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Downturned corners of mouth, Wi...	ORPHA:369891
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Wide nasal bridge, Short 5th finger, Short dis...	OMIM:220500
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Syncope, Abnormal...	ORPHA:60032
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Charge Syndrome	Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial se...	OMIM:214800
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Char Syndrome	Depressed nasal bridge, Depressed nasal ridge, Supernumerary nipple, Agenesis of permanent teeth,...	ORPHA:46627
Transaldolase Deficiency	Depressed nasal bridge, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent foramen ovale, Ven...	OMIM:606003
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Wide nasal bridge, Carious teeth, Downturned corners of mouth, Multiple muscular ventricular sept...	OMIM:620070
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus...	ORPHA:2476
Developmental And Speech Delay Due To Sox5 Deficiency	Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis	ORPHA:313892
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin...	ORPHA:2902
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph...	ORPHA:2257
German Syndrome	Wide nasal bridge, Depressed nasal bridge, Tetralogy of Fallot, Micrognathia, Open mouth, Cryptor...	ORPHA:2077
Double Outlet Left Ventricle	Cyanosis, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary ...	ORPHA:3427
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Short 5th finger, Broad nasal tip, Cleft upper lip, Abnormal heart morphology, Mic...	OMIM:239800
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Long philtrum, Bilateral cryptorchidism, Prominent nasal bridge, Micrognathia, T...	OMIM:613544
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Short 5th finger, Retrognathia, Long philtrum, Bilateral cryptorchidism, Abn...	ORPHA:485405
Foxp1 Syndrome	Recurrent upper respiratory tract infections, Broad nasal tip, Downturned corners of mouth, Retro...	ORPHA:391372
Acromicric Dysplasia	Small hand, Long philtrum, Thick lower lip vermilion, Bulbous nose, Anteverted nares, Narrow mout...	ORPHA:969
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Long philtrum, Mitral valve prolapse, Short nose, Cleft palate	ORPHA:90653
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Narrow mouth...	ORPHA:261295
Atelis Syndrome 1	Carious teeth, Long philtrum, Prominent nose, Leukopenia, Ventricular septal defect, Hypothyroidi...	OMIM:620184
Distal Duplication 5Q	Carious teeth, Absent thumb, Long philtrum, Prominent nasal bridge, Narrow mouth, Micrognathia, C...	ORPHA:96097
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Narrow mouth, Choanal stenosis, ...	ORPHA:1790
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Reduced renal corticomedullary differentiati...	OMIM:619902
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Thoracic platyspondyly, Joint stiffness, Genu valgum, Abnormal acet...	ORPHA:166011
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Microform Holoprosencephaly	Choanal atresia, Tetralogy of Fallot, Panhypopituitarism, Narrow nasal bridge, Anteverted nares, ...	ORPHA:280200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Coar...	ORPHA:371428
Developmental Delay With Or Without Dysmorphic Facies And Autism	Supernumerary nipple, Micrognathia, Cryptorchidism, Ventricular septal defect, Short foot, Patent...	OMIM:618454
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Complete atrioventricular canal defect	ORPHA:476126
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Aortic Aneurysm, Familial Thoracic 6	Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti...	OMIM:611788
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Microglossia, Micromelia, Micrognathia, Short ribs, Median cleft upper li...	OMIM:241800
Lujan-Fryns Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Prominent nasal bridge,...	ORPHA:776
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Premature osteoarthritis	OMIM:184840
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Dark urine, Ventricular septal defect, Everted lower li...	OMIM:619534
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl...	OMIM:616730
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
10Q22.3Q23.3 Microduplication Syndrome	Tetralogy of Fallot, Hypospadias	ORPHA:276422
Congenital Rubella Syndrome	Intrauterine growth retardation, Abnormality of the pulmonary artery, Ventricular septal defect, ...	ORPHA:290
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Recurrent lower respiratory tract infections, Atrial septal defect, Intrau...	OMIM:617744
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Cleft lip, Decreased response to growth hormone stimulation test, Has...	OMIM:618223
Codas Syndrome	Depressed nasal bridge, Hydroureter, Delayed eruption of teeth, Abnormal dental enamel morphology...	ORPHA:1458
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Short nose	ORPHA:438178
Transketolase Deficiency	Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ...	ORPHA:488618
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Nephrocalcinosis, Retrognathia, Limb undergrowth, Hypothyroidism, Atrial septa...	OMIM:618005
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Atelectasis, Reduced left ventri...	ORPHA:258
Chung-Jansen Syndrome	Long philtrum, Anteverted nares, Micrognathia, Cryptorchidism, High palate, Thin vermilion border...	OMIM:617991
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Depressed nasal bridge, Wide nasal bridge, High, narrow palate, Cleft li...	OMIM:616920
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Tetralogy of Fallot, Micropenis, Complete atrioventricular canal defect	OMIM:617925
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Irregular patellae, Osteoporotic tarsals, Flat acetabular roof, Ovoid vertebral bo...	OMIM:609052
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Atrial septal defect, Short nose, Clef...	ORPHA:79113
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Scoliosis, Reduced sperm motility	OMIM:602271
Lessel-Kreienkamp Syndrome	Wide nasal bridge, Dental malocclusion, Open mouth, Patent foramen ovale, Thin upper lip vermilio...	OMIM:619149
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Abnormal heart morphology, Micrognathia, Cryptorchidism, Hypoplasia of the thymus,...	OMIM:214110
Mandibulofacial Dysostosis, Guion-Almeida Type	Choanal atresia, Anteverted nares, Micrognathia, Malar flattening, Ventricular septal defect, Dee...	OMIM:610536
Neuralgic Amyotrophy	Upper limb muscle weakness, Redundant neck skin, Scapular winging, Acrocyanosis, Upper limb amyot...	ORPHA:2901
Potocki-Lupski Syndrome	Mandibular prognathia, Dental malocclusion, Dental crowding, Micrognathia, Patent foramen ovale, ...	OMIM:610883
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Malar flattening, Short ribs, Preductal coarcta...	OMIM:215045
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis	ORPHA:922
Noonan Syndrome 11	Depressed nasal bridge, Hypertrophic cardiomyopathy, Bulbous nose, Atrial septal defect, Thick ve...	OMIM:618499
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wide nasal bridge, Unilateral cleft lip, Hypertrophic cardiomyopathy, Anteverted nares, Micrognat...	OMIM:616897
Kleefstra Syndrome	Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Everted l...	ORPHA:261494
Odontochondrodysplasia	Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Micro...	ORPHA:166272
Recombinant 8 Syndrome	Depressed nasal bridge, Abnormality of the dentition, Downturned corners of mouth, Cleft upper li...	ORPHA:96167
Meckel Syndrome, Type 8	Depressed nasal ridge, Cleft upper lip, Cleft palate, Pericardial effusion, Polycystic kidney dys...	OMIM:613885
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Bulbous nose, Narrow nos...	ORPHA:261311
Rhizomelic Limb Shortening With Dysmorphic Features	Wide nasal bridge, Short 5th finger, Rhizomelia, Short thumb, Long philtrum, Stage 1 chronic kidn...	OMIM:618821
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Abnormality of the dentition, Mesomelia, Broad nasal tip, Long philtrum, Antev...	OMIM:618529
Chromosome 9P Deletion Syndrome	Micrognathia, Narrow mouth, Ventricular septal defect, Atrial septal defect, High palate, Hypospa...	OMIM:158170
Phaver Syndrome	Depressed nasal bridge, Short thumb, Ventricular septal defect, Coarctation of aorta, Pulmonary a...	ORPHA:2876
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Depressed nasal bridge, Decreased proportion of CD4...	OMIM:617241
Diamond-Blackfan Anemia 20	Total anomalous pulmonary venous return	OMIM:618313
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Hypoplastic sacrum, Lumbar hyperlordosis, Genu valgum, Limited elbow extension, Os...	OMIM:271650
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Mesomelia, Micromelia, Tetralogy of Fallot, Micrognathia, Situs inversus total...	ORPHA:1908
Woods Syndrome	Wide nasal bridge, Supernumerary nipple, Ventricular septal defect, Thin vermilion border, Low ha...	OMIM:615236
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Vesicoureteral reflux, Ventricular septal defect, Hydronephrosis, D...	OMIM:301056
Distal Deletion 15Q	Multicystic kidney dysplasia, Small hand, Micrognathia, Cryptorchidism, Bicuspid aortic valve, Mi...	ORPHA:1596
Distal Duplication 18Q	Choanal atresia, Carious teeth, Abnormal dental morphology, Anteverted nares, Prominent nasal bri...	ORPHA:1716
Chromosome 5Q12 Deletion Syndrome	Long philtrum, Prominent nose, Micrognathia, Patent foramen ovale, Ventricular septal defect, Atr...	OMIM:615668
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Atelectasis, Myopathy, Neonatal death	OMIM:300219
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Generalized ost...	OMIM:184095
C Syndrome	Wide nasal bridge, Micromelia, Anteverted nares, Renal cortical cysts, Micrognathia, Cryptorchidi...	OMIM:211750
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, ...	OMIM:249620
Autism Spectrum Disorder Due To Auts2 Deficiency	Wide nasal bridge, Retrognathia, Abnormal heart morphology, Anteverted nares, Micrognathia, Narro...	ORPHA:352490
Trigonocephaly With Short Stature And Developmental Delay	Wide nasal bridge, Ventricular septal defect, Convex nasal ridge, High palate, Broad alveolar ridges	OMIM:314320
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Trismus, Anemia, Double aortic arch	OMIM:230900
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Rhizomelia, Decreased response to growth hormone stimulation test, Bulbou...	OMIM:614114
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Bifid nasal tip, Downturned corners of mouth, Underdeveloped ...	ORPHA:521308
Ferguson-Bonni Neurodevelopmental Syndrome	Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen ovale	OMIM:619699
Noonan Syndrome 12	Anteriorly placed anus, Tetralogy of Fallot, Lymphopenia, 11 pairs of ribs, Decreased response to...	OMIM:618624
Frontoocular Syndrome	Prominent nasal bridge, Narrow mouth, Micrognathia, Narrow philtrum, Atrial septal defect, High p...	OMIM:605321
Coffin-Siris Syndrome 5	Depressed nasal bridge, Short distal phalanx of finger, Thick lower lip vermilion, Thick nasal al...	OMIM:616938
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	ORPHA:210122
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Abnormality of the dentition, Long philtrum, Prominent nasal bridge, Ventricular septal defect, S...	ORPHA:261190
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Short neck,...	OMIM:613686
Al-Raqad Syndrome	Thin upper lip vermilion, Narrow mouth, Atrial septal defect, Short nose	OMIM:616459
Meier-Gorlin Syndrome 7	Vesicoureteral reflux, Complete atrioventricular canal defect, Ventricular septal defect, Urethra...	OMIM:617063
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent upper respiratory tract infections, Dental crowding, Persistence of hemoglobin F, Persi...	OMIM:619769
17P13.3 Microduplication Syndrome	Narrow mouth, High palate, Hypoplasia of penis, Short nose, Wide nose	ORPHA:217385
Atelosteogenesis, Type Ii	Platyspondyly, Cervical kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Short nec...	OMIM:256050
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect	OMIM:616816
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, L...	OMIM:615355
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Open mouth, Thin upper lip vermi...	OMIM:613604
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na...	ORPHA:93315
Suleiman-El-Hattab Syndrome	Wide nasal bridge, Microretrognathia, Downturned corners of mouth, Long philtrum, Thick lower lip...	OMIM:618950
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Broad nasal tip, Microretrognathia, Downturned corners of mouth, Intestinal malrotation, Prominen...	ORPHA:457193
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Pulmonary hypoplasia, Sec...	OMIM:616866
Coffin-Siris Syndrome 6	High, narrow palate, Depressed nasal bridge, Broad nasal tip, Retrognathia, Micrognathia, Deep ph...	OMIM:617808
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Wide nasal bridge, Broad secondary alveolar ridge, Ventricular septal defect, Convex nasal ridge,...	ORPHA:3369
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Dysgyria, H...	OMIM:613834
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Hemiverte...	ORPHA:2916
Potocki-Shaffer Syndrome	Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Micropenis, Short phil...	OMIM:601224
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Bronchiectasis	OMIM:244400
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Tetralogy of Fallot, Absent cupid's bow, Crossed fused renal ec...	ORPHA:2919
Leopard Syndrome 1	Unilateral renal agenesis, Hypertrophic cardiomyopathy, Complete atrioventricular canal defect, M...	OMIM:151100
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections	ORPHA:3348
Distal Triplication 15Q	Retrognathia, Horseshoe kidney, Abnormal heart morphology, Micrognathia, Hydronephrosis, Atrial s...	ORPHA:314588
Cutis Laxa-Marfanoid Syndrome	Abnormal heart valve morphology, Flexion contracture, Emphysema, Congenital diaphragmatic hernia	ORPHA:171719
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis, Bicuspid aortic valve, Subvalvular aortic stenosis...	OMIM:620067
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Abnormal palate morphology, Micrognathia, Narrow mouth, Short nose	ORPHA:1495
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo...	ORPHA:1529
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Prolonged bleeding t...	OMIM:618280
Hall-Riggs Syndrome	Platyspondyly, Delayed skeletal maturation, Osteoporosis, Scoliosis, Kyphosis, Irregular vertebra...	OMIM:234250
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Retrognathia, Hypertrophic cardiomyopathy, Anteverted nares, Protruding tongue, Cryp...	OMIM:612938
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Abnormal ench...	OMIM:156530
Peho-Like Syndrome	Open mouth, Retrognathia, Short nose	OMIM:617507
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi...	OMIM:619910
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Acromesomelia, Abnormal heart morphology, Anteverted nares, Prominent nasal bri...	ORPHA:500159
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Lower limb muscle weakness, Atelectasis, Hypertrophic cardiomyopathy, Dilatation of t...	ORPHA:365
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Downturned corners of mouth, Tetralogy of Fallot, Anteverted nares, Vesico...	ORPHA:96147
Developmental And Epileptic Encephalopathy 66	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout...	OMIM:618067
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Cleft palate	OMIM:243440
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Intellectual Developmental Disorder, Autosomal Recessive 72	Wide nasal base, Broad nasal tip, Secundum atrial septal defect, Long philtrum, Prominent nose, W...	OMIM:618665
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst, Atrial septal defect, Ventricular septal defect	OMIM:263630
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Abnormal heart morphology, Emphysema, Congenital diaphragmatic hernia	OMIM:614100
Criss-Cross Heart	Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th...	ORPHA:1461
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:126550
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Abnormality of the dentition, Decreased response to growth hormone stimul...	ORPHA:363528
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Open bite, Ankyloglossia, Micrognathia, Cryptorchidism, Ventricular...	ORPHA:1507
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Micro...	OMIM:619472
Feingold Syndrome 1	Micrognathia, Ventricular septal defect, Everted lower lip vermilion, High palate, Duodenal atres...	OMIM:164280
Ventriculomegaly With Cystic Kidney Disease	Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal corticomedullary cy...	OMIM:219730
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Downturned corners of mouth, Cardiomyopathy, Anteriorly placed anus, Ante...	OMIM:217980
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Cryptorchidism, Broad philtrum,...	OMIM:618577
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Downturned corners of mouth, Long philtru...	ORPHA:404440
Abruzzo-Erickson Syndrome	Short toe, Malar flattening, Abnormal palate morphology, Cryptorchidism, Atrial septal defect, Co...	ORPHA:921
Keutel Syndrome	Depressed nasal bridge, Short distal phalanx of finger, Underdeveloped nasal alae, Recurrent sinu...	ORPHA:85202
Weiss-Kruszka Syndrome	Dextrotransposition of the great arteries, Anteverted nares, Exaggerated cupid's bow, Ventricular...	OMIM:618619
Hamamy Syndrome	Complete atrioventricular canal defect, Atrial septal defect	OMIM:611174
Formiminoglutamic Aciduria	Atrial septal defect	ORPHA:51208
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Delayed ossification of carpal bones, Limited hip m...	ORPHA:93346
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Coffin-Siris Syndrome 4	Everted upper lip vermilion, Ventricular septal defect, Atrial septal defect, Patent ductus arter...	OMIM:614609
Aortic Valve Disease 2	Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, A...	OMIM:614823
Beta-Mercaptolactate Cysteine Disulfiduria	Micromelia, Abnormality of the ureter, Anteverted nares, Atrial septal defect, Convex nasal ridge...	ORPHA:1035
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Delayed skeletal maturation, Irregular acetabu...	OMIM:184252
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Platyspondyly, Delayed epiphyseal ossification, Central vertebral ...	ORPHA:93352
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Platyspondyly, Thoracolumbar kyphosis, Delayed epiphyseal ossification, Hip dislocation, Hip subl...	ORPHA:93360
Diprosopus	Cleft palate, Abnormality of the nose, Abnormal cardiac septum morphology, Non-midline cleft of t...	ORPHA:1681
Roifman Syndrome	Downturned corners of mouth, Underdeveloped nasal alae, Long philtrum, Short toe, Narrow nose, An...	OMIM:616651
Alzahrani-Kuwahara Syndrome	Coronary sinus enlargement, Long philtrum, Bulbous nose, Prominent nose, Micrognathia, Patent for...	OMIM:619268
Kniest Dysplasia	Platyspondyly, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Vertebral wed...	ORPHA:485
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the urethra, Micromelia, Micrognathia, Malar flattening, Convex nasal ridge, Short...	ORPHA:2145
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis	OMIM:607155
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Long philtrum, Narrow mouth, Patent foramen ovale, Mitral valve prolapse, High p...	OMIM:615539
Fg Syndrome 5	Depressed nasal bridge, Long philtrum, Diastema, Anteverted nares, Hypospadias, Short nose	OMIM:300581
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect	OMIM:613730
Geroderma Osteodysplastica	Platyspondyly, Abnormal form of the vertebral bodies, Recurrent fractures, Biconcave vertebral bo...	ORPHA:2078
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anal stenosis, Short distal phalanx of finger, Long philtrum, Anteverted ...	OMIM:614080
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n...	OMIM:613426
Robinow Syndrome, Autosomal Dominant 2	Mesomelia, Depressed nasal bridge, Abnormality of the dentition, Short distal phalanx of finger, ...	OMIM:616331
Acrocephalopolydactyly	Depressed nasal ridge, Hepatosplenomegaly, Limb undergrowth, Short nose	ORPHA:221054
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Thoracic platyspondyly, Increased intervertebral space, Beaking of vertebral bodies, Lumbar platy...	OMIM:618961
Johanson-Blizzard Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Underdeveloped nasal alae, Anteriorly pl...	ORPHA:2315
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:745
Diamond-Blackfan Anemia 7	Choanal atresia, Secundum atrial septal defect, Short thumb, Increased mean corpuscular volume, H...	OMIM:612562
Hypoglossia With Situs Inversus	Microglossia, Polysplenia, Micrognathia, Situs inversus totalis, Narrow mouth, Hypodontia, Asplen...	OMIM:612776
Short-Rib Thoracic Dysplasia 12	Atelectasis, Intrauterine growth retardation, Patent foramen ovale, Ventricular septal defect, Ne...	OMIM:269860
Oculofaciocardiodental Syndrome	Bifid nasal tip, Peripheral pulmonary artery stenosis, Tooth malposition, Abnormality of the dent...	ORPHA:2712
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Limitation of joint mobility	OMIM:619598
Wolcott-Rallison Syndrome	Chronic kidney disease, Double outlet right ventricle, Atrial septal defect, Renal insufficiency	ORPHA:1667
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Hypoplastic acetabulae, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis	OMIM:230650
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Short toe, Micrognathia, Narrow mouth, Limb undergrowth, Short nose, Short foo...	OMIM:614078
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Cleft upper lip, Foot oligodactyly, Amelia, Bilateral cleft palate, Ventricular se...	OMIM:601357
Trisomy 17P	Aortic valve stenosis, Micrognathia, Narrow mouth, High palate, Polycystic kidney dysplasia, Pate...	ORPHA:261290
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchidism, Thia...	OMIM:249270
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Limitation of joint ...	OMIM:607326
Kbg Syndrome	Delayed skeletal maturation, Persistent open anterior fontanelle, Short neck, Vertebral fusion, S...	ORPHA:2332
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis	ORPHA:71267
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Micrognathia, Cryptorchidism, Thin upper lip vermilion, Smooth philtrum, Slender nose, Wide mouth...	OMIM:615419
Kabuki Syndrome 2	Short 5th finger, Broad nasal tip, Natal tooth, Dental malocclusion, Horseshoe kidney, Atrioventr...	OMIM:300867
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormal palate morphology, Microretrognathia, Long philtrum, Short nose	ORPHA:1389
Pelger-Huet Anomaly	Depressed nasal bridge, Abnormality of the dentition, Short 3rd metacarpal, Giant platelets, Uppe...	OMIM:169400
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Lumbar hyperlordosis, Distal ulnar epiphyseal stippling, Beaking of vertebral bodi...	OMIM:609616
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl...	OMIM:300400
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val...	ORPHA:1880
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Stroke, Paroxysmal atrial tachycardia, Atria...	ORPHA:49827
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
Joubert Syndrome 18	Retrognathia, Horseshoe kidney, Ventricular septal defect, Renal cyst, Cleft palate, Lobulated to...	OMIM:614815
Autosomal Recessive Stickler Syndrome	Platyspondyly, Genu valgum, Joint hypermobility, Irregular vertebral endplates	ORPHA:250984
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Intellectual Developmental Disorder, X-Linked 21	Dental crowding, Tented upper lip vermilion, Open mouth, Macroorchidism, Mandibular prognathia, S...	OMIM:300143
Brachyolmia Type 3	Platyspondyly, Short neck, Scoliosis, Kyphosis	OMIM:113500
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Rhizomelia, Downturned corners of mouth, Micrognathia, Ventricular septal defe...	ORPHA:93267
Kagami-Ogata Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteverted nares,...	OMIM:608149
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Choanal atresia, Retrognathia, Prominent nasal bridge, Ventricular septal defect, High palate, Pa...	ORPHA:52055
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Duodenal atresia, Median cleft palate, Patent foramen ovale, Ventricular ...	OMIM:301043
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Short distal phalanx of finger, Mandibular prognathia, Broad nasal tip, Downtu...	OMIM:239300
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Anteverted nares, Micr...	OMIM:613026
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Unilateral renal agenesis, Broad nasal tip, Tetralogy of Fallot, Hypogonadism...	ORPHA:3306
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis,...	ORPHA:538
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Downturned cor...	OMIM:615398
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Hypoplasia of the maxilla, Hydroureter, Dental crowding, Micrognathia, Delayed...	OMIM:616367
Pseudoachondroplasia	Platyspondyly, Atlantoaxial dislocation, Delayed epiphyseal ossification, Hypoplasia of the odont...	OMIM:177170
Lissencephaly Syndrome, Norman-Roberts Type	Wide nasal bridge, Microretrognathia, Patent foramen ovale, Atrial septal defect, Hypoplastic spl...	ORPHA:89844
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Long penis, Long philtrum, Micrognathia, Cryptorchidism, Thin up...	ORPHA:1988
Alg3-Cdg	Abnormality of the nose, Cardiomyopathy, Abnormality of the endocrine system, Coarctation of the ...	ORPHA:79321
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab...	OMIM:312150
Liposarcoma	Abnormality of the kidney, Varicose veins	ORPHA:69078
Agnathia-Otocephaly Complex	Microglossia, Secundum atrial septal defect, Aglossia, Micrognathia, Situs inversus totalis, Narr...	OMIM:202650
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Wide nasal bridge, Nephrocalcinosis, Thick lower lip vermilion, Thick upper lip vermilion, Open m...	OMIM:611087
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
Pallister-Hall Syndrome	Natal tooth, Distal shortening of limbs, Cryptorchidism, Ventricular septal defect, Anal atresia,...	OMIM:146510
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio...	ORPHA:91387
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p...	OMIM:178600
Lujo Hemorrhagic Fever	Hypotension, Atelectasis, Shock, Excessive bleeding after a venipuncture, Ecchymosis, Hyperhidros...	ORPHA:319213
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular...	OMIM:115470
Zygomycosis	Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Air crescent sign, Atelectasis, Dilatation ...	ORPHA:73263
Feingold Syndrome Type 1	Interrupted aortic arch, Nephritis, Short thumb, Duodenal atresia, Horseshoe kidney, Abnormal hea...	ORPHA:391641
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Downturned corners of mouth, Tetralogy of Fallot, Wide mout...	ORPHA:163956
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Wide nasal bridge, Protein-losing enteropathy, Pancreatic lymphangiectasis, Micrognathia, Malar f...	OMIM:235255
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Tetralogy of Fallot, Glandular hypospadias,...	ORPHA:2473
Fanconi Anemia, Complementation Group O	Abnormal heart morphology, Renal cyst, Stage 5 chronic kidney disease, Hydronephrosis	OMIM:613390
Otopalatodigital Syndrome Type 1	Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner...	ORPHA:90650
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Peripheral pulmonary artery stenosis, Abnormality of frontal sinus, Short th...	ORPHA:436003
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Wide nasal bridge, Velopharyngeal insufficiency, Long philtrum, Short femoral neck, Tetralogy of ...	OMIM:614701
Non-Distal Duplication 13Q	Abnormality of the dentition, Long philtrum, Micrognathia, Cryptorchidism, Everted lower lip verm...	ORPHA:1702
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Depressed nasal bridge, Micromelia, Anteverted nares, Short ribs, Cardiomegaly, Deep philtrum, Va...	OMIM:613320
Lambert Syndrome	Wide mouth, Hypospadias, Malar flattening, Ventricular septal defect	ORPHA:1296
Oligomeganephronia	Secundum atrial septal defect, Congenital diaphragmatic hernia, Pulmonary venous occlusion, Hyper...	ORPHA:2260
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Atelectasis, Polymicrogyria, Tricuspid regurgitation, Retinal arterial tortuosity, Patent foramen...	OMIM:620371
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Depressed nasal bridge, Microretrognathia, Micromelia, Long philtrum, Anteverted nares, Patent fo...	OMIM:618870
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Broad columella, Long philtrum, Hypertrophic cardiomyopathy, Narrow nasal brid...	OMIM:619383
Coffin-Siris Syndrome 7	Depressed nasal bridge, Downturned corners of mouth, Thick lower lip vermilion, Thick nasal alae,...	OMIM:618027
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Tented upper lip vermilion, Thin upper lip vermilion, Shorten...	OMIM:615716
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615279
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Anteverted na...	OMIM:614069
Spondyloepimetaphyseal Dysplasia, Shohat Type	Platyspondyly, Delayed epiphyseal ossification, Central vertebral hypoplasia, Lumbar hyperlordosi...	OMIM:602557
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Depressed nasal bridge, Mandibular prognathia, Dilation of Virchow-Robin spaces, Downturned corne...	OMIM:619720
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Increased circu...	ORPHA:97289
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Aortic root aneurysm, Short toe, Neuroendocrine neoplasm, Short columella,...	ORPHA:404443
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Cleft lip, Microretrognathia, Downturned corners of mouth, Long philtrum, Abno...	OMIM:618571
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m...	ORPHA:99095
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Vertebral wed...	ORPHA:93314
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Unilateral renal atrophy, Pyelonephritis, Varicose veins, Renal dysplasia	OMIM:314300
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar...	OMIM:175050
Megalencephaly	Wide nasal bridge, Macroorchidism, Long penis, Atrial septal defect	ORPHA:2477
Noonan Syndrome 9	Hydroureter, Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Pulmonic stenosis	OMIM:616559
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Platyspondyly, Abnormal hip joint morphology, Limited elbow extension, Delayed pubic bone ossific...	ORPHA:1856
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Choanal atresia, Short 5th finger, Underdeveloped nasal alae, Overhangin...	ORPHA:163979
Sifrim-Hitz-Weiss Syndrome	Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficie...	OMIM:617159
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, High palate, S...	ORPHA:251028
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Ventricular septal...	OMIM:600460
Tyshchenko Syndrome	High, narrow palate, Narrow palate, Supernumerary nipple, Cryptorchidism, Ventricular septal defe...	OMIM:615102
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:617349
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Cleft upper lip, Anteverted nares, Wide mouth, Cryptorchidism, Exaggerate...	ORPHA:261236
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Pulmonary artery hypoplasia, Intestinal malrotation, Protruding t...	OMIM:300963
Acrocallosal Syndrome	Everted upper lip vermilion, Narrow mouth, Open mouth, Protruding tongue, Cryptorchidism, Alveola...	OMIM:200990
Buerger Disease	Vasculitis, Livedo reticularis, Acrocyanosis	ORPHA:36258
Lambotte Syndrome	Narrow mouth, Retrognathia, Convex nasal ridge, Ventricular septal defect	OMIM:245552
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Open mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect...	OMIM:301039
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Bulbous nose, Open mouth, Cryptorchidism, Patent foramen ovale, Transposi...	OMIM:616789
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Small hand, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Pulmon...	OMIM:235510
Insulin-Like Growth Factor I, Resistance To	Wide nasal bridge, Small hand, Retrognathia, Long philtrum, Short finger, Micrognathia, Narrow mo...	OMIM:270450
Ring Chromosome 21 Syndrome	Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae	ORPHA:1445
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Anteriorly placed anus, Abnormality of the uret...	ORPHA:1225
Microphthalmia With Limb Anomalies	Flared nostrils, Depressed nasal bridge, Finger aplasia, Retrognathia, Cleft upper lip, Foot olig...	OMIM:206920
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morpholo...	ORPHA:1335
Dohle Bodies And Leukemia	Secundum atrial septal defect	OMIM:223350
Tetrasomy 12P	Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,...	ORPHA:884
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Depressed nasal bridge, Mandibular prognathia, Unilateral cleft lip, Thick lower lip vermilion, H...	OMIM:619103
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, 11 pairs of ribs, Prominent nasal bridge, Patent foram...	OMIM:619184
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Small hand, Micrognathia, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atria...	OMIM:610759
Chops Syndrome	Aspiration pneumonia, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ...	OMIM:616368
Stevenson-Carey Syndrome	Downturned corners of mouth, Underdeveloped nasal alae, Anteverted nares, Narrow mouth, Prominent...	OMIM:611961
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dysplasti...	OMIM:601808
Thoracic Outlet Syndrome	Varicose veins	ORPHA:97330
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morpholog...	ORPHA:93351
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Long philtrum, Villous atrophy, Wide mouth, Splenomegaly, Atrial septal d...	OMIM:608776
Chondroectodermal Dysplasia With Night Blindness	Platyspondyly, Osteopenia, Fractures of the long bones, Delayed skeletal maturation, Abnormality ...	ORPHA:319195
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab...	OMIM:253290
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Downturned corners o...	ORPHA:1327
Snijders Blok-Campeau Syndrome	Wide nasal bridge, Widely spaced teeth, Prominent nose, Taurodontia, Perimembranous ventricular s...	OMIM:618205
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Mesomelia, Elevated circulating thyroid-stimulating ho...	OMIM:613457
Trisomy X	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Atrial septal defect, Ventricular septal ...	ORPHA:3375
Bamforth-Lazarus Syndrome	Choanal atresia, Retrognathia, Congenital hypothyroidism, Thyroid agenesis, Cleft palate	ORPHA:1226
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Patent foramen ovale	OMIM:617182
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl...	OMIM:618348
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Methylmalonic aciduria, Micrognathia, Cryptorchidism, Coarctation of aorta, Atria...	OMIM:614857
Ogden Syndrome	High, narrow palate, Microretrognathia, Everted upper lip vermilion, Underdeveloped nasal alae, E...	ORPHA:276432
Giant Cell Arteritis	Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal...	ORPHA:397
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Mandibular prognathia, Anteverted nares, Congenital hypothyroidism, Malar...	OMIM:614613
Mosaic Trisomy 16	Craniofacial asymmetry, Short forearm, Meckel diverticulum, Abnormality of the nose, Anteriorly p...	ORPHA:1708
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Situs invers...	OMIM:267010
Miller-Dieker Syndrome	Nephropathy, Anteverted nares, Abnormal upper lip morphology, Short nose	ORPHA:531
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Hypoplastic cervical vertebrae...	ORPHA:79345
Trigonocephaly 1	Wide nasal bridge, High, narrow palate, Long penis, Meckel diverticulum, Long philtrum, Short nose	OMIM:190440
Mosaic Variegated Aneuploidy Syndrome 1	Depressed nasal bridge, Multicystic kidney dysplasia, Leukemia, Long philtrum, Anteverted nares, ...	OMIM:257300
Wildervanck Syndrome	Short neck, Fused cervical vertebrae	ORPHA:3456
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re...	OMIM:616037
Edinburgh Malformation Syndrome	Choanal atresia, Downturned corners of mouth, Anteverted nares, Micrognathia, Narrow mouth, Thin ...	ORPHA:1895
Farber Disease	Recurrent upper respiratory tract infections, Skeletal muscle atrophy, Atelectasis, Cherry red sp...	ORPHA:333
Orofaciodigital Syndrome Xvii	Tetralogy of Fallot, Renal hypoplasia, Micropenis	OMIM:617926
Toriello-Carey Syndrome	Cardiomyopathy, Anteriorly placed anus, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Abnorm...	ORPHA:3338
Trisomy 12P	Wide nasal bridge, Downturned corners of mouth, Supernumerary nipple, Micrognathia, Malar flatten...	ORPHA:1699
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Dental crowding, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary ...	OMIM:617168
Down Syndrome	Narrow mouth, Open mouth, Protruding tongue, Ventricular septal defect, Type II diabetes mellitus...	ORPHA:870
Intellectual Developmental Disorder, X-Linked 30	Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Open mouth, Thin upper lip v...	OMIM:300558
Autosomal Recessive Omodysplasia	Mesomelia, Depressed nasal bridge, Rhizomelia, Micromelia, Long philtrum, Anteverted nares, Micro...	ORPHA:93329
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Micrognathia, Mandibular prognathia, Short nose	OMIM:617183
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, High palate, Micrognathia, Short nose	OMIM:615042
Thanatophoric Dysplasia	Intrauterine growth retardation, Atrial septal defect, Gray matter heterotopia, Patent ductus art...	ORPHA:2655
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly	OMIM:601438
Kapur-Toriello Syndrome	Short thumb, Cleft upper lip, Intestinal malrotation, Bulbous nose, Cryptorchidism, Ventricular s...	OMIM:244300
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Atrial septal defect, High palat...	OMIM:617506
Coffin-Siris Syndrome	Wide nasal base, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypospadias, Pa...	ORPHA:1465
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Micrognathia, Everted lower lip vermilion, Anterior pituitary hypoplas...	ORPHA:177907
Baker-Gordon Syndrome	Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Short nose	OMIM:618218
Diamond-Blackfan Anemia 10	Choanal atresia, Micrognathia, Malar flattening, Macrocytic anemia, Ventricular septal defect, St...	OMIM:613309
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusion	OMIM:118100
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Ventricular septal defect, Proteinuria, Short nose	ORPHA:2143
Diamond-Blackfan Anemia 8	Wide nasal bridge, Increased mean corpuscular volume, Thick upper lip vermilion, Macrocytic anemi...	OMIM:612563
Seckel Syndrome 5	Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Prominent nasal bridge, Micrognathia, C...	OMIM:613823
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Cardiomyopathy, Anteverted nares, Open mouth, Short philtrum, Short nose	OMIM:618437
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Protruding tongue, Cryptorchidism, Ventricular septal defect, Absent frontal sinuses, Widely-spac...	OMIM:301040
X-Linked Lissencephaly With Abnormal Genitalia	Micrognathia, Cryptorchidism, Ventricular septal defect, Aganglionic megacolon, Hypoplasia of pen...	ORPHA:452
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose	OMIM:618379
Zaki Syndrome	Wide nasal bridge, Median pseudocleft lip, Anteverted nares, Micrognathia, Hypoplasia of the phal...	OMIM:619648
Sweeney-Cox Syndrome	Wide nasal bridge, Choanal atresia, Short distal phalanx of finger, Broad nasal tip, Velopharynge...	OMIM:617746
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Tetral...	ORPHA:51636
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria, Long philtrum, Short nose, Thick vermilion border	ORPHA:833
Seckel Syndrome 9	Pulmonary artery hypoplasia, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ve...	OMIM:616777
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Mandibular prognathia, Elevated circulating pa...	ORPHA:439822
Lymphatic Malformation 5	Cleft palate, Hypoplasia of lymphatic vessels	OMIM:153200
Desmosterolosis	Lissencephaly, Abnormal cortical gyration, Polymicrogyria, Intrauterine growth retardation, Abnor...	ORPHA:35107
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Wide nasal base, Wide nasal bridge, Depressed nasal bridge, Dental crowding, Oligosacchariduria, ...	ORPHA:397709
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:743
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Aspiration pneumonia, Left ventricular noncompaction, Tricuspid regurgita...	OMIM:619167
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Micrognathi...	OMIM:619326
Mucopolysaccharidosis, Type Iva	Platyspondyly, Hypoplasia of the odontoid process, Ulnar deviation of the wrist, Genu valgum, Joi...	OMIM:253000
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Open mouth, Ventricular septal defect, Everted lower lip vermilion, Acute lymphoblastic leukemia,...	OMIM:280000
Omodysplasia 1	Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Short tibia, Long philtrum, Micrognathia, ...	OMIM:258315
Oculodentodigital Dysplasia	Carious teeth, Underdeveloped nasal alae, Selective tooth agenesis, Cleft upper lip, Narrow nose,...	OMIM:164200
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Laubry-Pezzi Syndrome	Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul...	ORPHA:99094
Bardet-Biedl Syndrome 4	Renal cyst, Abnormality of the kidney	OMIM:615982
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Carious teeth, Diastema, Intestinal malrotation, Anteverted nares, Microg...	OMIM:244450
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Aortic root aneurysm, Lymphopenia, Pancytopenia, Micrognathia, Open mout...	OMIM:620654
Gjc2-Related Late-Onset Primary Lymphedema	Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphatic vessels, Venous ins...	ORPHA:568051
Alkaptonuria	Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul...	OMIM:203500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Shoulder girdle muscle weakness, Myopathy, Patent foramen ovale, Pelvic girdle muscle weakness, G...	OMIM:615156
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, Flexi...	OMIM:616549
Distal Xq28 Microduplication Syndrome	Epistaxis, Recurrent upper respiratory tract infections, Broad nasal tip, Dental crowding, Hypopl...	ORPHA:293939
Faciocardiorenal Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Horseshoe kidney, Endocardial fibroelastosis, Narro...	ORPHA:1973
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Wormian bones, Delayed skeletal maturation, Thoracic kyphosis	OMIM:619638
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Short distal phalanx of finger, Delayed eruption of teeth, Underdeveloped...	OMIM:615866
Weill-Marchesani Syndrome	Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect	ORPHA:3449
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Thin upper lip vermilion, ...	OMIM:613443
Immunodeficiency 9	Lymphopenia, Recurrent aphthous stomatitis, Hypoplasia of the thymus, Amelogenesis imperfecta, Ab...	OMIM:612782
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Wide nasal bridge, Long philtrum, Bulbous nose, Ankyloglossia, Vesicoure...	ORPHA:250989
Craniofacial Dyssynostosis With Short Stature	Horseshoe kidney, Malar flattening, Cryptorchidism, Ventricular septal defect, Hypospadias, Paten...	OMIM:218350
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Bifid uvula, Absent thumb, Submucous cleft hard palate, Atrial septal defect, Pulmonic stenosis	OMIM:619239
Achondrogenesis Type 1A	Micromelia, Long philtrum, Anteverted nares, Micrognathia, Short palm, Short foot, Short nose	ORPHA:93299
3Q29 Microdeletion Syndrome	Abnormality of the dentition, Dental crowding, Horseshoe kidney, Prominent nasal bridge, Short ph...	ORPHA:65286
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Short toe, Long philtrum, Tetralogy of Fallot, Prominent nasal bridge, Cryptor...	ORPHA:1519
Achondrogenesis	Micromelia, Long philtrum, Anteverted nares, Micrognathia, Short nose	ORPHA:932
Tarp Syndrome	Wide nasal bridge, Meckel diverticulum, Subdural hemorrhage, Horseshoe kidney, Tetralogy of Fallo...	OMIM:311900
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Ventricular septal defect, Everte...	OMIM:608670
Aortic Aneurysm, Familial Thoracic 12	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Ascending tubular aorta...	OMIM:619825
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Retrognathia, Bulbous nose, Thick vermilion border, Patent foramen ovale, Ventricular septal defe...	OMIM:620113
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Hip dislocation, Hypoplasia of the odontoid process, Atlantoaxial instability, Lim...	OMIM:183900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Aganglionic megaco...	OMIM:614207
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ...	OMIM:620024
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Hypoplasia of the odontoid process, Genu valgum, Delayed pubic bone ossification, ...	OMIM:184250
Holt-Oram Syndrome	Hypoplastic left heart, Secundum atrial septal defect, Muscular ventricular septal defect, Left v...	OMIM:142900
Metaphyseal Chondrodysplasia, Schmid Type	Platyspondyly, Distal tibial bowing, Irregular acetabular roof, Lumbar hyperlordosis, Genu valgum...	OMIM:156500
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Hemiatrophy of upper limb, Oligosacchariduria, Downturned corners of mout...	ORPHA:163649
Bone Dysplasia, Lethal Holmgren Type	Hypertrophic cardiomyopathy, Recurrent respiratory infections, Atrial septal defect, Patent ductu...	ORPHA:1842
Kapur-Toriello Syndrome	Tetralogy of Fallot, Bulbous nose, Intestinal malrotation, Ventricular septal defect, Orofacial c...	ORPHA:2328
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Long philtrum, Prominent nasal bridge, Gingival overgrowth, Protruding tongue,...	OMIM:619179
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Micrognathia, Cryptorchidism, 3-Methylglutaconic aciduria, Delayed p...	ORPHA:496790
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Downturned corners of mouth, Diastema, Bulbous nose, Cryptorchidism, Patent foramen ovale, Ventri...	ORPHA:329224
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Hypopituitarism, Decreased thyroid-stimulating hormone level, Anteverted ...	OMIM:613038
8P11.2 Deletion Syndrome	Anosmia, Depressed nasal bridge, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Mi...	ORPHA:251066
Achondrogenesis Type 1B	Micromelia, Long philtrum, Anteverted nares, Micrognathia, Short foot, Short nose	ORPHA:93298
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Hypoplasia of the maxilla, Cleft upper lip, Tetralogy of Fallot, Wi...	OMIM:164210
Cap Myopathy	Increased variability in muscle fiber diameter, Aortic root aneurysm, Lower limb muscle weakness,...	ORPHA:171881
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Narrow palate, Retrognathia, Long philtrum, Wide mouth, Narrow mouth, Microgna...	OMIM:620250
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pa...	ORPHA:363705
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Reduced natural killer cell count, Anteverted nares, Micrognathia, Protru...	OMIM:242860
Eec Syndrome	Choanal atresia, Carious teeth, Xerostomia, Tooth agenesis, Abnormal dental enamel morphology, De...	ORPHA:1896
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Abnormal heart morphology, Anteverted nares, Micrognathia, Tented upper l...	ORPHA:314655
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th finger, Microglossia, Aplasia of ...	ORPHA:364577
Noonan Syndrome 3	Hypoplastic nasal bridge, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Antevert...	OMIM:609942
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Precocious puberty, Cleft upper...	ORPHA:819
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Microretrognathia, Hypopl...	ORPHA:1786
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Splenomegaly, Anemia, Thrombocytopenia, Hyperimidodipeptidu...	OMIM:170100
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis, Foam cells	ORPHA:747
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Polymicrogyria, Pleural effusion, Bradycardia, Petechiae, Cerebral...	OMIM:617397
Trisomy 1Q	Depressed nasal bridge, Multicystic kidney dysplasia, Microretrognathia, Narrow mouth, Cryptorchi...	ORPHA:261344
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration, Patent ductus arteriosus, Atrial septal defect, Aplasia/Hypopl...	ORPHA:93274
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Cyanosis	OMIM:263000
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Filippi Syndrome	Wide nasal bridge, Broad columella, Underdeveloped nasal alae, Supernumerary nipple, Prominent na...	ORPHA:3255
Perlman Syndrome	Interrupted aortic arch, Depressed nasal bridge, Wide nasal bridge, Distal ileal atresia, Everted...	OMIM:267000
Trisomy 13	High, narrow palate, Abnormality of the dentition, Long philtrum, Abnormality of the ureter, Mala...	ORPHA:3378
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Supernumerary nipple, Bulbous nose, Prominent nasal bridge, Crypto...	OMIM:618109
Ollier Disease	Platyspondyly, Joint stiffness, Osteolysis, Bone pain	ORPHA:296
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas...	OMIM:610655
Pseudo-Torch Syndrome 1	Cleft lip, Microretrognathia, Long philtrum, Anteverted nares, Renal insufficiency, Splenomegaly,...	OMIM:251290
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Depressed nasal bridge, Elevated urinary 3-hydro...	OMIM:614105
Opitz Gbbb Syndrome	Aortic root aneurysm, Natal tooth, Ankyloglossia, Micrognathia, Cryptorchidism, Ventricular septa...	ORPHA:2745
Aarskog-Scott Syndrome	Wide nasal bridge, Short 5th finger, Hypoplasia of the maxilla, Hypoplasia of the odontoid proces...	OMIM:305400
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Abnormality of the dentition, Micrognathia, Recurrent sinusitis, Eosinophilia, Atrial septal defe...	OMIM:618282
Supravalvular Aortic Stenosis	Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ...	OMIM:185500
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Bifid uvula, Downturned corners of mouth, Retrognathia, Ventricular septa...	OMIM:301030
Carpenter Syndrome 1	Precocious puberty, Depressed nasal bridge, Hypoplasia of the maxilla, Hydroureter, Polysplenia, ...	OMIM:201000
Orofaciodigital Syndrome V	Bifid uvula, Horseshoe kidney, Ankyloglossia, Tetralogy of Fallot, Hamartoma of tongue, Ventricul...	OMIM:174300
Weyers Ulnar Ray/Oligodactyly Syndrome	Mesomelia, Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Hydronephrosis, Solitary ...	OMIM:602418
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic root aneurysm, Bruising susceptibility, Atelectasis, Multiple joint contractures, Mitral v...	ORPHA:536467
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Delayed skeletal maturation, Limited elbow extension, Genu ...	OMIM:602111
Varicose Veins	Varicose veins	OMIM:192200
Radio-Tartaglia Syndrome	Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Precocious puberty, Dental crowdi...	OMIM:619312
Distal Deletion 10Q	Wide nasal bridge, Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, ...	ORPHA:96148
Aarskog-Scott Syndrome	Genu recurvatum, Camptodactyly of finger, Joint hypermobility, Abnormality of the cervical spine,...	ORPHA:915
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Small hand, Right ventricular dilatation, Long philtrum, Anteriorly placed a...	OMIM:612863
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Hypoplasia of the maxill...	ORPHA:560
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Horseshoe kidney, Renal cyst, Abnormal vena cava morphology, Ventricular septal defect	ORPHA:166035
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Joint hypermobility, Wormian bones, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:619131
Fibrochondrogenesis 1	Depressed nasal bridge, Hypoplastic scapulae, Small hand, Rhizomelia, Long philtrum, Anteverted n...	OMIM:228520
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Recurrent respiratory infections, Vascular dilatation, Atelectasis	ORPHA:2314
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney di...	OMIM:608612
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Retrognathia, Micrognathia, Narrow mouth, Protruding tongue, Splen...	OMIM:608779
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Micrognathia, Vesicoureteral reflux, Ventricular se...	ORPHA:3078
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Renal...	OMIM:613095
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Small hand, Aortic root aneurysm, Narrow mouth, Atrial septal defect, Anal atresia, High palate, ...	ORPHA:280633
Seizures-Scoliosis-Macrocephaly Syndrome	Bulbous nose, Cryptorchidism, Atrial septal defect, Long philtrum	ORPHA:466926
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Dental crowding, Cleft upper lip, Tetralogy of Fallot, Abnormal dental mo...	OMIM:612582
Toluene Embryopathy	Hypoplasia of the zygomatic bone, Micrognathia, Cryptorchidism, Hydronephrosis, Smooth philtrum, ...	ORPHA:1920
Tetraploidy	Aplasia/Hypoplasia of the thymus, Micrognathia, Hydronephrosis, Convex nasal ridge, Short philtru...	ORPHA:3305
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni...	ORPHA:217563
Developmental And Epileptic Encephalopathy 90	Limb hypertonia, Atrial septal defect	OMIM:301058
Wiedemann-Steiner Syndrome	Wide nasal bridge, Short 5th finger, Small hand, Broad nasal tip, Short toe, Long philtrum, Short...	OMIM:605130
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Wide nasal bridge, Mandibular prognathia, Microretrognathia, Dilation of Virchow-Robin spaces, De...	OMIM:300998
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Short thumb, Abnormal heart valve morphology, Ureteral obstruction, Fibul...	ORPHA:90652
Opitz Gbbb Syndrome	Wide nasal bridge, Unilateral cleft lip, Cleft upper lip, Rectourethral fistula, Anteverted nares...	OMIM:300000
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Genu valgum, Laryngotracheomalacia, Reduced bone m...	ORPHA:94068
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Rhizomelia, Short humerus, Mandibular prognathia, Short metacarpal, Short ...	ORPHA:2831
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Cleft soft palate, Smooth philtrum, Esophageal atresia, Atrial septal defect	OMIM:614526
Fg Syndrome Type 1	Micrognathia, Open mouth, Cryptorchidism, Mitral valve prolapse, Atrial septal defect, Anal atres...	ORPHA:93932
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Dilation of Virchow-Robin spaces, Long philtrum, Lymphopenia, Penile frec...	OMIM:605309
Catel-Manzke Syndrome	Bifid uvula, Short femur, Short toe, Cleft upper lip, Narrow naris, Narrow nose, Micrognathia, Na...	OMIM:616145
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Hyperextensibility of the finger joints, Increased susceptibility to f...	OMIM:231070
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Intrauterine growth retardation, Noncompaction ...	OMIM:610198
Bartsocas-Papas Syndrome	Absent thumb, Underdeveloped nasal alae, Micrognathia, Narrow mouth, Median cleft upper lip, Shor...	ORPHA:1234
Lateral Meningocele Syndrome	Dental crowding, Long philtrum, Micrognathia, Malar flattening, Cryptorchidism, Ventricular septa...	OMIM:130720
Congenital Tracheal Stenosis	Hypoplastic left heart, Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis,...	ORPHA:141127
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Wide nasal bridge, Retrognathia, Long philtrum, Prominent nasal bridge, Cryptorchidism, Ventricul...	OMIM:617452
Proteus Syndrome	Venous malformation	OMIM:176920
Autosomal Recessive Spondylocostal Dysostosis	Intrauterine growth retardation, Congenital diaphragmatic hernia, Anomalous pulmonary venous retu...	ORPHA:2311
Mycophenolate Mofetil Embryopathy	Tessier cleft, Micrognathia, Ventricular septal defect, Coarctation of aorta, Orofacial cleft, Tr...	ORPHA:268249
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Long philtrum, Supernumerary nipple, Abnormal heart morphology, Patent foramen ovale, Ventricular...	ORPHA:457279
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Osteopenia, Flexion contracture	ORPHA:157965
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Depressed nasal bridge, Natal tooth, Micrognathia, Ventricular septal defect, Hematuria, Proteinu...	OMIM:616901
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the ureter, Short columella, Ventricular septal defect, Polycystic ovaries, Abnorm...	ORPHA:1770
Intellectual Developmental Disorder, Autosomal Dominant 48	Anteverted nares, Prominent nasal bridge, Open mouth, Ventricular septal defect, Bicuspid aortic ...	OMIM:617751
Congenital Pulmonary Lymphangiectasia	Cyanosis, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Clef...	ORPHA:2521
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Depressed nasal bridge, Secundum atrial septal defect, Dilation of Vir...	OMIM:619951
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bifid uvula, Retrognathia, Atrioventricular canal defect, Bulbous nose, Prominent nose, Micrognat...	ORPHA:3047
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Downturned corners of mouth, Long philtrum, Anteverted nares, Micrognathia, Narrow mouth, Oligodo...	ORPHA:391408
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin...	OMIM:187300
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Bifid uvula, Abnormality of the denti...	OMIM:300968
Jansen-De Vries Syndrome	Small hand, Anteverted nares, Ventricular septal defect, Thin upper lip vermilion, Bicuspid aorti...	OMIM:617450
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Depressed nasal bridge, Long philtrum, Thick lower lip vermilion, Tented upper lip vermilion, Pat...	OMIM:620075
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae	ORPHA:2522
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Neonatal insulin-depen...	ORPHA:2255
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Blomstrand Lethal Chondrodysplasia	Mesomelia, Depressed nasal bridge, Rhizomelia, Aplastic clavicle, Natal tooth, Long philtrum, Dis...	ORPHA:50945
Short Stature And Facioauriculothoracic Malformations	High palate, Cleft palate, Cleft upper lip, Ventricular septal defect	OMIM:609654
Osteopathia Striata-Cranial Sclerosis Syndrome	Aortic valve stenosis, High, narrow palate, Wide nasal bridge, Bifid uvula, Delayed eruption of t...	ORPHA:2780
Axenfeld-Rieger Syndrome, Type 3	Malar flattening, Microdontia, Hypodontia, Atrial septal defect, Concave nasal ridge, Patent duct...	OMIM:602482
Desmosterolosis	Total anomalous pulmonary venous return, Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, ...	OMIM:602398
Spondylocarpotarsal Synostosis Syndrome	Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturation, Carpal synostos...	OMIM:272460
Loeys-Dietz Syndrome 5	Bifid uvula, Aortic root aneurysm, Retrognathia, Prominent nasal bridge, Cleft soft palate, Tente...	OMIM:615582
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular ...	OMIM:607598
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Coarctation of aorta, Micropenis, Dextrocardia	OMIM:618929
Unilateral Polymicrogyria	Epistaxis, Abnormal heart morphology, Pulmonary arteriovenous malformation, Stroke, Perisylvian p...	ORPHA:268943
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Hypertrophic cardiomyopathy, Art...	ORPHA:3342
Phace Association	Arterial stenosis, Congenital hypothyroidism, Ventricular septal defect, Lingual thyroid, Aortic ...	OMIM:606519
Serkal Syndrome	Abnormal penis morphology, Malrotation of small bowel, Ventricular septal defect, Orofacial cleft...	ORPHA:139466
19P13.3 Microduplication Syndrome	Precocious puberty, Underdeveloped nasal alae, Prominent nose, Micrognathia, Narrow mouth, Ventri...	ORPHA:447980
Frontofacionasal Dysplasia	Tessier cleft, Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depressed nasal bridge, D...	ORPHA:1791
Contractural Arachnodactyly, Congenital	Calf muscle hypoplasia, Aortic root aneurysm, Elbow flexion contracture, Mitral valve prolapse, V...	OMIM:121050
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Wide nasal bridge, Precocious puberty, Abnormal cerebral vascular morphology, Underdeveloped nasa...	ORPHA:2637
Microphthalmia, Syndromic 2	Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Atrial s...	OMIM:300166
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Choanal atresia, Bifid uvula, Retrognathia, Bilateral cryptorchidism, Prominent nasal bridge, Ven...	OMIM:300472
Genitopalatocardiac Syndrome	Wide nasal bridge, Multicystic kidney dysplasia, Downturned corners of mouth, Micrognathia, Crypt...	ORPHA:2075
Carey-Fineman-Ziter Syndrome	Long philtrum, Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Anteverted nares, Microgn...	ORPHA:1358
Odontochondrodysplasia 1	Platyspondyly, Genu recurvatum, Biconvex vertebral bodies, Joint hypermobility, Osteoporosis, Fla...	OMIM:184260
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Depressed nasal bridge, Smooth philtrum, Ventricular septal defect	OMIM:602501
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Penile freckling, Intestinal polyposis, Thyroid carcinoma, Lymphoid nodul...	ORPHA:210548
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Anteverted nares, Short columella, Vesicoureteral reflux, Exaggerate...	OMIM:615879
Al Kaissi Syndrome	Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Broad nasal tip, Small hand, Long...	OMIM:617694
Relapsing Polychondritis	Atelectasis, Large vessel vasculitis, Abnormal aortic valve morphology, Abnormal endocardium morp...	ORPHA:728
Mosaic Trisomy 1	Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Thick lower lip vermilion, Renal co...	ORPHA:1692
Angioosteohypotrophic Syndrome	Venous malformation, Prominent superficial veins	ORPHA:75508
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Micrognathia, Short nose	ORPHA:1514
Diamond-Blackfan Anemia 1	Persistence of hemoglobin F, Micrognathia, Ventricular septal defect, Atrial septal defect, Neutr...	OMIM:105650
Chromosome 15Q25 Deletion Syndrome	Cleft upper lip, Polysplenia, Coronary artery fistula, Tented upper lip vermilion, Cryptorchidism...	OMIM:614294
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased proportion...	OMIM:611926
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Wide nasal bridge, Conical tooth, Cleft lip, Hypoplasia of the maxilla, Bilateral choanal atresia...	OMIM:106260
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Alagille Syndrome	Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormality of the ureter, ...	ORPHA:52
Stickler Syndrome, Type I	Platyspondyly, Joint stiffness, Spondylolisthesis, Morbus Scheuermann, Arthropathy, Joint hypermo...	OMIM:108300
Thoracoabdominal Syndrome	Renal agenesis, Transposition of the great arteries, Ectopia cordis, Hypospadias, Patent ductus a...	OMIM:313850
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Short distal phalanx of finger, Hypogonadism, Short nasal septum...	OMIM:302950
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Micrognathia...	ORPHA:124
Cantu Syndrome	Platyspondyly, Delayed skeletal maturation, Cuboid-shaped vertebral bodies, Short neck, Osteoporo...	OMIM:239850
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Thin upper lip vermili...	ORPHA:1295
Trisomy 8P	Cryptorchidism, Dysplastic aortic valve, Short nose, Short 1st metacarpal, Annular pancreas, Tetr...	ORPHA:264450
X-Linked Mandibulofacial Dysostosis	Hypoplasia of the zygomatic bone, Prominent nasal bridge, Micrognathia, Cryptorchidism, Abnormal ...	ORPHA:1131
Chromosome 1Q41-Q42 Deletion Syndrome	Depressed nasal bridge, Broad nasal tip, Cleft upper lip, Widely spaced teeth, Supernumerary nipp...	OMIM:612530
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Proximal tubulopathy, Lymphangiectasis	OMIM:602579
Alg9-Cdg	Micrognathia, Ventricular septal defect, Atrial septal defect, Short nose, Abnormal heart morphol...	ORPHA:79328
Intellectual Developmental Disorder, Autosomal Dominant 47	Supernumerary nipple, Prominent nasal bridge, Cryptorchidism, Ventricular septal defect, Wide mou...	OMIM:617635
Fanconi Anemia, Complementation Group B	Bilateral radial aplasia, Absent thumb, Aplastic anemia, Duodenal atresia, Hypogonadism, Ventricu...	OMIM:300514
Czech Dysplasia	Platyspondyly, Limitation of joint mobility, Thoracic kyphosis, Intervertebral space narrowing, F...	OMIM:609162
Lathosterolosis	Long philtrum, Horseshoe kidney, Thick upper lip vermilion, Foam cells with lamellar inclusion bo...	OMIM:607330
Koolen-De Vries Syndrome	Narrow palate, Aortic root aneurysm, Cleft upper lip, Widely spaced teeth, Bulbous nose, Prominen...	OMIM:610443
Mosaic Trisomy 9	Tessier cleft, Micromelia, Horseshoe kidney, Abnormal heart valve morphology, Bulbous nose, Endoc...	ORPHA:99776
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Pulmonary arterial hypertension...	OMIM:612387
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Broad nasal tip, Pancreatic lymphangiectasis, Hepatosplenomegaly, Mic...	ORPHA:1655
Distal Deletion 6P	Depressed nasal bridge, Abnormality of the dentition, Downturned corners of mouth, Underdeveloped...	ORPHA:96125
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Narrow nasal bridge, Micrognathia,...	OMIM:620073
Schwartz-Jampel Syndrome, Type 1	Platyspondyly, Congenital hip dislocation, Joint contracture of the hand, Cervical kyphosis, Shou...	OMIM:255800
Buratti-Harel Syndrome	Bifid uvula, Dilation of Virchow-Robin spaces, Velopharyngeal insufficiency, Cryptorchidism, Subm...	OMIM:619314
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Abnormality of canine, Abnormality of the dentition, Hypoplasia of the maxilla...	ORPHA:363417
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Abn...	ORPHA:565612
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect	OMIM:619881
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Atrioventricular canal defect, Micrognathia, Cryptorchidism, Ventricular septal defect...	OMIM:619123
Acrodysostosis	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Dela...	ORPHA:950
Frontometaphyseal Dysplasia 1	Ankle flexion contracture, Partial fusion of tarsals, Interphalangeal joint contracture of finger...	OMIM:305620
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Wide nasal bridge, Depressed nasal bridge, Cleft lip, Bifid uvula, Submuc...	OMIM:301022
Marfanoid Habitus With Situs Inversus	Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven...	OMIM:609008
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal de...	OMIM:619909
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Knee flexion contracture, Short neck, Cyanotic episode, Thickened nuch...	ORPHA:284417
Phosphoribosylaminoimidazole Carboxylase Deficiency	Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Bilateral cryptorchidism, Ant...	OMIM:619859
Intellectual Developmental Disorder, Autosomal Recessive 71	Unilateral renal agenesis, Cryptorchidism, Increased overbite, Ventricular septal defect, Micropenis	OMIM:618504
Chromosome 16P13.3 Duplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Short toe, Long philtrum, Short thumb, Te...	OMIM:613458
King-Denborough Syndrome	Broad nasal tip, Bilateral cryptorchidism, Cryptorchidism, Ventricular septal defect, Deep philtr...	OMIM:619542
Cerebrocostomandibular Syndrome	Carious teeth, Cleft soft palate, Micrognathia, Ventricular septal defect, Short hard palate, Atr...	OMIM:117650
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Depressed nasal bridge, Small hand, Widely spaced teeth, Micrognathia, Atr...	ORPHA:459061
Bohring-Opitz Syndrome	Wide nasal bridge, Depressed nasal bridge, Short toe, Cleft upper lip, Retrognathia, Intestinal m...	OMIM:605039
Malan Syndrome	Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption...	OMIM:614753
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Intrauterine growth retardation, Abnormality of neuronal migration, Ventr...	ORPHA:2772
Chromosome 10Q26 Deletion Syndrome	Flared nostrils, Wide nasal bridge, Long philtrum, Prominent nose, Micrognathia, Vesicoureteral r...	OMIM:609625
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Depressed nasal bridge, Cryptorchidism, Hypospadias, Short nose	OMIM:616910
Orofacial Cleft 13	Retrognathia, Micrognathia, Cleft soft palate, Malar flattening, Oligodontia	OMIM:613857
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fractures, Bowing...	OMIM:166220
Sotos Syndrome	High, narrow palate, Depressed nasal bridge, Narrow palate, Broad nasal tip, Enlarged naris, Musc...	OMIM:117550
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Osteopenia, Joint contracture of the hand, Camptodactyly of finger, Kyphoscoliosis...	OMIM:612350
Alazami Syndrome	Widely spaced teeth, Malar flattening, Atrial septal defect, Thick vermilion border, Short philtr...	ORPHA:319671
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Anteverted nares, Ventricular septal defect, Hypoplasia of teeth, Short nose	OMIM:234050
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve...	OMIM:135100
Joubert Syndrome 3	Wide nasal bridge, Nephronophthisis, Anteverted nares, Stage 5 chronic kidney disease, Open mouth...	OMIM:608629
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Underdeveloped nasal alae, Ureteral agenesis, Intest...	OMIM:617666
Anauxetic Dysplasia 1	Platyspondyly, Atlantoaxial dislocation, Elbow flexion contracture, Lumbar hyperlordosis, Limited...	OMIM:607095
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Platyspondyly, Limitation of joint mobility, Abnormal joint morpho...	ORPHA:1427
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thick lower lip vermilion, Anteverted nares, Tented upper lip vermilion, Thin upper lip vermilion...	OMIM:619854
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r...	ORPHA:79127
Noonan Syndrome 2	Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic v...	OMIM:605275
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Wide nasal bridge, Bifid uvula, Downturned corners of mouth, Underdeveloped nasal alae, Abnormal ...	ORPHA:453499
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Depressed nasal ridge, Rhizomelia, Micrognathia, Short palm, Short philtrum, Short foot, Wide mou...	ORPHA:163966
Oculodentodigital Dysplasia	Broad alveolar ridges, Mandibular prognathia, Carious teeth, Abnormality of the nose, Underdevelo...	ORPHA:2710
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Micrognathia, Anteriorly displaced urethral meatus, Hydrocele...	OMIM:266810
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Lymphopenia, Micrognathia, Vesicoureteral reflux, Tented upper lip vermilion, P...	OMIM:618460
Intellectual Developmental Disorder, Autosomal Dominant 1	Depressed nasal ridge, Mandibular prognathia, Downturned corners of mouth, Retrognathia, Widely s...	OMIM:156200
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Furrowed tongue, Anteverted nares, Tented upper lip vermilion, Ventricular septal d...	OMIM:616449
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Wide nasal bridge, Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental...	ORPHA:1071
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Wormian bones	OMIM:601356
Stickler Syndrome, Type Iv	Platyspondyly, Genu valgum, Joint hypermobility, Intervertebral space narrowing, Scoliosis	OMIM:614134
Thakker-Donnai Syndrome	Downturned corners of mouth, Tetralogy of Fallot, Bulbous nose, Anteverted nares, Narrow mouth, V...	ORPHA:1780
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Atelectasis, Cardiomegaly, Recurrent respiratory infections, Pulmonary f...	OMIM:618278
Smith-Kingsmore Syndrome	Depressed nasal bridge, Short distal phalanx of finger, Rhizomelia, Long philtrum, Open mouth, Cr...	OMIM:616638
Enlarged Parietal Foramina	Cleft lip, Venous malformation, Abnormal cerebral vein morphology, Cleft palate	ORPHA:60015
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Long philtrum, Prominent nasal bridge, Cryptorchidism, Ventricular septal defect, T...	ORPHA:505237
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Malar flattening, Short ribs, Short nose	OMIM:614524
Cerebellar-Facial-Dental Syndrome	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Long ...	ORPHA:444072
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Dysgyria, Patent foramen ovale, Limb hypertonia, Atrial septal d...	OMIM:620327
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Cleft lip, Functional abnormality of the bladder, Microretrognathia, ...	ORPHA:2953
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Retrognathi...	OMIM:614576
Breath-Holding Spells	Cyanosis	OMIM:607578
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Venous malformation, Varicose veins	OMIM:613089
Rabson-Mendenhall Syndrome	Insulin-resistant diabetes mellitus, Ventricular septal defect, Atrial septal defect, High palate...	ORPHA:769
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Knee dislocation, Shoulder dislocation, Thoracic scoliosis, Cervical C2/C3 vertebral ...	OMIM:618000
Au-Kline Syndrome	Chronic kidney disease, Bifid nasal tip, Bifid uvula, Aortic root aneurysm, Downturned corners of...	OMIM:616580
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Renal hypoplasia, Bifid uvula, Absence of the sacr...	OMIM:617660
Frank-Ter Haar Syndrome	Secundum atrial septal defect, Dental malocclusion, Gingival overgrowth, Mitral valve prolapse, V...	OMIM:249420
Ververi-Brady Syndrome	Thin upper lip vermilion, Smooth philtrum, Transposition of the great arteries, Everted lower lip...	OMIM:617982
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Carious teeth, Natal tooth, Ankyloglossia, Micrognathia, Aplasia of the thymus, Atrial septal def...	OMIM:620186
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Anteverted nares, Cleft soft palate, Micrognathia, Cryptorchidism, Submucous c...	ORPHA:2282
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Pleural effusion, Mitral stenosis, Mitral valve prolapse, Ventricula...	OMIM:616564
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,...	OMIM:614868
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis, Tented upper lip vermilion, Open mouth, Atrial septal defect, Diabetes insipidu...	ORPHA:500533
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Johnson Neuroectodermal Syndrome	Choanal atresia, Anosmia, Carious teeth, Tetralogy of Fallot, Bulbous nose, Hypogonadism, Everted...	ORPHA:2316
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Prominent nasal bridge, Micrognathia, Cryptorchidism, Hydronephrosis, ...	ORPHA:2083
Grange Syndrome	Bicuspid aortic valve, Renal artery stenosis, Coronary artery stenosis, Carotid artery stenosis	OMIM:602531
Ogden Syndrome	Flared nostrils, Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, Cryptorchi...	OMIM:300855
Robinow Syndrome, Autosomal Recessive 1	Small hand, Micrognathia, Cryptorchidism, Hypospadias, Mesomelic arm shortening, Short nose, Down...	OMIM:268310
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Choanal atresia, Short distal phalanx of finger, Anteverted nares, Macrog...	ORPHA:1914
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Dilated cardiomyopathy, Micrognathia, Ventricular septal defect, Hydronephrosis, Car...	OMIM:614921
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Cryptorchidism, Hy...	OMIM:614732
Cardiospondylocarpofacial Syndrome	Wide nasal bridge, Long philtrum, Horseshoe kidney, Muscular ventricular septal defect, Bulbous n...	OMIM:157800
Cebalid Syndrome	Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, High palate, Short nose	OMIM:618774
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Myocardial infarction, Acute infectious pneumonia, Recurr...	ORPHA:60033
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Mandibular prognathia, Cholelithiasis, Retrognathia, Male urethral meatus st...	ORPHA:464738
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Prominent scalp veins, Micrognathia, Narrow mouth, Cryptorchidism, Hypospadias, Down...	OMIM:264090
Cenani-Lenz Syndrome	High, narrow palate, Short thumb, Micromelia, Abnormal dental enamel morphology, Foot oligodactyl...	ORPHA:3258
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Dental crowding, Shortening o...	OMIM:101600
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Lumbar hyperlordosis, Limited elbow extension, Flat acetabular roof, Ovoid vertebr...	OMIM:608728
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Retrognathia, Thick nasal alae, Micrognathia, Short nose	ORPHA:163961
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Delayed eruption of teeth, Abnormal heart morphology, Thick upper lip vermilio...	OMIM:247200
Combined Immunodeficiency-Enteropathy Spectrum	Type I diabetes mellitus, Jejunoileal ulceration, Intestinal malrotation, Autoimmune hemolytic an...	ORPHA:436252
Holoprosencephaly 14	Cleft lip, Ventricular septal defect, Median cleft upper lip, Double outlet right ventricle, Aort...	OMIM:619895
Chime Syndrome	Depressed nasal ridge, Abnormality of the dentition, Aplasia/Hypoplasia of the phalanges of the t...	ORPHA:3474
Congenital Heart Defects And Ectodermal Dysplasia	Atrioventricular canal defect	OMIM:617364
De Barsy Syndrome	Delayed eruption of teeth, Prominent veins on trunk, Narrow mouth, Cryptorchidism, Ventricular se...	ORPHA:2962
Zimmermann-Laband Syndrome 1	Aortic root aneurysm, High palate, Gingival fibromatosis, Patent ductus arteriosus, Broad nasal t...	OMIM:135500
Ohdo Syndrome, Sbbys Variant	Depressed nasal bridge, Dilated cardiomyopathy, Bulbous nose, Micrognathia, Cryptorchidism, Micro...	OMIM:603736
Spondylo-Ocular Syndrome	Platyspondyly, Joint hypermobility, Short neck, Osteoporosis, Abnormal intervertebral disk morpho...	ORPHA:85194
Mucopolysaccharidosis Type 4	Platyspondyly, Joint dislocation, Delayed skeletal maturation, Spinal canal stenosis, Genu valgum...	ORPHA:582
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Atrioventricular canal defect, Abnormal pulmonary valve morphology, ...	ORPHA:500
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst...	OMIM:603860
Nager Syndrome	Unilateral renal agenesis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasi...	ORPHA:245
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Everted upper lip vermilion, Retrognathia, Anteverted nares, Micrognathia...	OMIM:608013
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Smooth philtrum, Everted lower ...	ORPHA:261144
Jacobsen Syndrome	Aortic valve stenosis, Multicystic kidney dysplasia, Cryptorchidism, Ventricular septal defect, D...	ORPHA:2308
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ...	OMIM:603554
Genitopatellar Syndrome	Multicystic kidney dysplasia, Delayed eruption of teeth, Long philtrum, Prominent nose, Prominent...	ORPHA:85201
Kury-Isidor Syndrome	Long philtrum, Widely spaced teeth, Anteverted nares, Tented upper lip vermilion, Ventricular sep...	OMIM:619762
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Polymicrogyria, Congestive heart failure, ...	OMIM:620609
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Block vertebrae, Supernumerary vertebrae, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis	OMIM:271520
Bainbridge-Ropers Syndrome	Supernumerary nipple, Micrognathia, Cryptorchidism, Everted lower lip vermilion, High palate, Sho...	OMIM:615485
Milroy Disease	Abnormal venous morphology, Varicose veins	ORPHA:79452
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Paten...	ORPHA:26793
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose	ORPHA:2835
19P13.12 Microdeletion Syndrome	Precocious puberty, Long philtrum, Narrow nasal bridge, Anteverted nares, Cryptorchidism, Ventric...	ORPHA:254346
Noonan Syndrome 5	Depressed nasal bridge, Mandibular prognathia, Hypertrophic cardiomyopathy, Cryptorchidism, Atria...	OMIM:611553
Tarp Syndrome	Wide nasal bridge, Extramedullary hematopoiesis, Hypoplasia of proximal radius, Horseshoe kidney,...	ORPHA:2886
Gabriele-De Vries Syndrome	Aortopulmonary collateral arteries, Abnormality of the dentition, Broad nasal tip, Thick lower li...	OMIM:617557
Wiskott-Aldrich Syndrome	Nephropathy, Vasculitis, Gingival bleeding, Epistaxis, Inflammation of the large intestine, Abnor...	ORPHA:906
Leukodystrophy, Hypomyelinating, 10	Long philtrum, Bulbous nose, Anteverted nares, Malar flattening, Smooth philtrum, Thin vermilion ...	OMIM:616420
Ebstein Anomaly	Ebstein anomaly of the tricuspid valve, Atrial septal defect	OMIM:224700
Meckel Syndrome, Type 4	Renal cyst, Atrial septal defect, Ventricular septal defect	OMIM:611134
Larsen Syndrome	Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, Tracheomalac...	OMIM:150250
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Open mouth, Narrow mouth, Cryptorchidism, Ventricular septal defe...	OMIM:300967
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis, Splenomegaly, Short ribs, Ventricular septal defect, Or...	OMIM:615630
Raine Syndrome	Choanal atresia, Depressed nasal bridge, Mandibular prognathia, Hydroureter, Natal tooth, Microme...	OMIM:259775
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Vascular granular osmiophilic material deposition, Urinary incontinence, Stroke, Varicose veins, ...	OMIM:125310
Noonan Syndrome 4	Depressed nasal bridge, Dental malocclusion, Hypertrophic cardiomyopathy, Cryptorchidism, Ventric...	OMIM:610733
Bardet-Biedl Syndrome 17	Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextrocardia, Micro...	OMIM:615994
Hydrolethalus Syndrome 1	Hydronephrosis, Hypospadias, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:236680
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Congenital hypothyroidism, Cryptorchidism, Short ribs, Ventricular septal d...	ORPHA:2519
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Intestinal malrotation, Malar flattening, Ventricular se...	OMIM:222448
Ruvalcaba Syndrome	Small hand, Dental crowding, Micromelia, Narrow mouth, Cryptorchidism, Hematuria, Delayed puberty...	ORPHA:3121
Kawasaki Disease	Vasculitis, Strawberry tongue, Sterile pyuria, Double outlet right ventricle with subpulmonary ve...	ORPHA:2331
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Underdeveloped nasal alae, Micrognathia, Mitral valve prolapse, Short philtrum, Atrial septal def...	OMIM:300986
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi...	OMIM:618164
Short Stature-Micrognathia Syndrome	Rhizomelia, Retrognathia, Micrognathia, Cryptorchidism, Ventricular septal defect, Penoscrotal hy...	OMIM:617164
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Cleft lip, Adrenal gland agenesis, Ventricular septal defect, Pulmonary artery stenosis, Hypospad...	OMIM:611812
Telangiectasia, Hereditary Hemorrhagic, Type 2	Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral art...	OMIM:600376
Kniest Dysplasia	Platyspondyly, Delayed epiphyseal ossification, Limitation of joint mobility, Tracheomalacia, Hip...	OMIM:156550
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Increased bone mineral density, Reduced bone mineral density, Kyphoscoliosis, Join...	OMIM:614856
Combined Oxidative Phosphorylation Deficiency 47	Platyspondyly, Short neck	OMIM:618958
Desbuquois Syndrome	Depressed nasal bridge, Anteverted nares, Small hand, Ventricular septal defect	ORPHA:1425
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Abnormality of the dentition, Dental malocclusion, Hypertrophic cardiomyo...	OMIM:115150
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Micromelia, Anteverted nares, Thin vermilion border, S...	OMIM:610015
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arteriovenous malformation, Venous insufficiency	ORPHA:624
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
5Q14.3 Microdeletion Syndrome	Short philtrum, Anteverted nares, Open mouth, Short nose	ORPHA:228384
Joubert Syndrome 14	Prominent nasal bridge, Open mouth, Tented upper lip vermilion, Malar flattening, Ventricular sep...	OMIM:614424
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Widely spaced teeth, Cryptorchidism, Microdontia, Proteinuria, Atri...	ORPHA:2728
Waardenburg Syndrome Type 1	Wide nasal bridge, Underdeveloped nasal alae, Cleft upper lip, Tented upper lip vermilion, Agangl...	ORPHA:894
Loeys-Dietz Syndrome 2	Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Abdominal aortic aneurysm, M...	OMIM:610168
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Long philtrum, Anteverted nares, Smooth philtrum, Intr...	OMIM:616430
Thrombocytopenia-Absent Radius Syndrome	Horseshoe kidney, Tetralogy of Fallot, Fibular aplasia, Micrognathia, Aplasia/hypoplasia of the h...	ORPHA:3320
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Camptodactyly, Flexion contracture, Restrictive cardiomyopathy, Patent foramen ovale	ORPHA:88630
Dysosteosclerosis	Platyspondyly, Hypoplastic vertebral bodies, Increased bone mineral density, Recurrent fractures,...	ORPHA:1782
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Abnormal large intestine morphology, Arteriovenous malformation, Long philtrum, Ne...	ORPHA:109
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, H...	OMIM:609053
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy	ORPHA:444013
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Thoracolumbar kyphosis, Joint stiffness, Hypoplastic vertebral bodies, Beaking of ...	OMIM:230600
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly, Cyanosis	ORPHA:391428
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Unilateral renal agenesis, Hypoplasia of the maxilla, Cleft upper lip, Supernu...	OMIM:213980
Oculoauriculovertebral Spectrum With Radial Defects	Atrioventricular canal defect, Distal urethral duplication, Vesicoureteral reflux, Renal hypoplas...	ORPHA:2549
19Q13.11 Microdeletion Syndrome	Broad columella, Underdeveloped nasal alae, Retrognathia, Supernumerary nipple, Wide mouth, Crypt...	ORPHA:217346
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ...	ORPHA:774
Gomez-Lopez-Hernandez Syndrome	Decreased response to growth hormone stimulation test, Anteverted nares, Malar flattening, Smooth...	OMIM:601853
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Vesicoureteral reflux, Smooth philt...	OMIM:618828
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypoplastic vertebral bodies, Scoliosis, Abnor...	ORPHA:3027
Teebi-Shaltout Syndrome	Aortic valve stenosis, Wide nasal bridge, High, narrow palate, Broad nasal tip, Ureteral stenosis...	OMIM:272950
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Lowry-Wood Syndrome	Platyspondyly, Elbow dislocation, Delayed skeletal maturation, Joint stiffness, Patellar dislocat...	ORPHA:1824
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Convex nasal ridge, Short nose	OMIM:200130
Danon Disease	Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali...	OMIM:300257
Dermotrichic Syndrome	Aminoaciduria, Depressed nasal bridge, Aganglionic megacolon, Anemia, Short nose	ORPHA:99688
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Mitral stenosis, Renal cyst, Coarctation of aorta, Patent ductus arteriosus	OMIM:617260
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi...	ORPHA:402075
Fetal Hydantoin Syndrome	Depressed nasal ridge, Short distal phalanx of finger, Cryptorchidism, Everted lower lip vermilio...	ORPHA:1912
Shashi-Pena Syndrome	Unilateral renal agenesis, Broad nasal tip, Dilation of Virchow-Robin spaces, Retrognathia, Thin ...	OMIM:617190
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Retrognathia, Pancreatic hypoplasia, Decreased response to growth hormo...	OMIM:602782
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,...	OMIM:602088
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Arteriovenous malformation, Venous insufficiency	ORPHA:137608
Stapes Ankylosis With Broad Thumbs And Toes	Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae	OMIM:184460
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Aortic root aneurysm, Micrognathia, Ventricular septal defect, High palate, Hypospadi...	ORPHA:444077
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Choanal atresia, Small hand, Dental crowding, Downturned corners of mouth, Retrognathia, Widely s...	OMIM:301044
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Tented philtrum, Retrognathia, Anteverted nares, Gingi...	ORPHA:363659
Okamoto Syndrome	Aortic valve stenosis, Exaggerated median tongue furrow, Open bite, Open mouth, Abnormal mitral v...	ORPHA:2729
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Renal dysplasia, Stage 5 chronic kidney disease, Situs inversus totalis, R...	OMIM:208540
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Open bite, Anteverted nares, Splenomega...	ORPHA:2969
17Q12 Microduplication Syndrome	Tracheoesophageal fistula, Atrial septal defect, Cleft palate	ORPHA:261272
Desbuquois Dysplasia 1	Platyspondyly, Joint dislocation, Advanced tarsal ossification, Joint hypermobility, Phalangeal d...	OMIM:251450
Poikiloderma With Neutropenia	Depressed nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Long philtrum, Le...	OMIM:604173
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
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Mic...	OMIM:208085
Zttk Syndrome	Small hand, Narrow mouth, Absent gallbladder, Ventricular septal defect, Atrial septal defect, Hi...	OMIM:617140
Lamb-Shaffer Syndrome	Thoracic kyphosis, Scoliosis, Fused cervical vertebrae	ORPHA:530983
X-Linked Intellectual Disability, Cantagrel Type	Short philtrum, Tented upper lip vermilion, Short nose	ORPHA:85277
Congenital Fibrinogen Deficiency	Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Right v...	ORPHA:335
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Bulbous nose, Thin upper lip vermilion, Short nose	OMIM:620292
Noonan Syndrome 13	Wide nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, Micrognathia, Cryptorchi...	OMIM:619087
Marshall-Smith Syndrome	Hypoplasia of the odontoid process, Irregular dentition, Cryptorchidism, Ventricular septal defec...	OMIM:602535
Aase-Smith Syndrome I	Open mouth, Cleft palate, Ventricular septal defect	OMIM:147800
Spondylometaphyseal Dysplasia, Schmidt Type	Platyspondyly, Abnormality of the vertebral column, Irregular acetabular roof, Abnormality of the...	ORPHA:93316
Tetrasomy 18P	Thin vermilion border, Narrow mouth, Long philtrum, Short nose	ORPHA:3307
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Broad nasal tip...	ORPHA:363611
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Abnormal mitr...	ORPHA:3310
Schuurs-Hoeijmakers Syndrome	Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo...	OMIM:615009
Ramos-Arroyo Syndrome	Depressed nasal bridge, Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Anteverted nares...	ORPHA:1051
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Pfeiffer Syndrome Type 3	Choanal atresia, Depressed nasal bridge, Small hand, Horseshoe kidney, Intestinal malrotation, Ve...	ORPHA:93260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Lissencephaly, Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Polymicrogyri...	OMIM:253800
Micro Syndrome	Wide nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Hydronephrosis, Short philtrum...	ORPHA:2510
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Mucopolysaccharidosis, Type X	Platyspondyly, Irregular acetabular roof, Genu valgum, Beaking of vertebral bodies, Hyperlordosis...	OMIM:619698
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Hip dislocation, Kyphoscoliosis, Joint hypermobility, Osteoporosis, Vertebral comp...	OMIM:616507
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Supernumerary nipple, Abn...	ORPHA:1812
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Bulbous nose, Anteverted nares, Open mouth, Absent nasal bridge, Orofacial cle...	ORPHA:261211
Smith-Mccort Dysplasia 2	Platyspondyly, Hypoplasia of the odontoid process, Genu valgum, Enlarged interphalangeal joints, ...	OMIM:615222
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect	ORPHA:96190
Dextrocardia	Abnormal lung lobation, Abnormal heart morphology, Abnormal EKG, Situs inversus totalis, Abnormal...	ORPHA:1666
Trisomy 8Q	Wide nasal bridge, Micrognathia, Cryptorchidism, Displacement of the urethral meatus, Abnormal or...	ORPHA:1752
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Depressed nasal bridge, Peripheral pulmonary artery stenosis, Broad nasal tip, Hydroureter, Valvu...	OMIM:300707
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Retrognathia, Prominent nose, G...	ORPHA:96191
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal ...	OMIM:614922
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Long philtrum, Bicuspid aortic valve, Atrial septal defect, Low hanging c...	OMIM:619721
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Warsaw Breakage Syndrome	Tetralogy of Fallot, High palate, Wide mouth, Ventricular septal defect	OMIM:613398
Thauvin-Robinet-Faivre Syndrome	Bifid ureter, Mitral valve prolapse, Ventricular septal defect, Nephroblastoma, Renal cyst, Varic...	OMIM:617107
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Cryptorchidism, Ventricular septal defect, Tracheoesophageal fistula, Esophagea...	ORPHA:77298
Thymic Carcinoma	Abnormal vena cava morphology	ORPHA:99868
Renpenning Syndrome 1	Micrognathia, Narrow mouth, Ventricular septal defect, Atrial septal defect, Anal atresia, High p...	OMIM:309500
Proximal Spinal Muscular Atrophy	Recurrent aspiration pneumonia, Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexio...	ORPHA:70
Peho Syndrome	Tented upper lip vermilion, Open mouth, Retrognathia, Short nose	OMIM:260565
Glomuvenous Malformation	Abnormal renal morphology, Venous malformation, Arteriovenous malformation, Gastrointestinal arte...	ORPHA:83454
Houge-Janssens Syndrome 3	Broad nasal tip, Muscular ventricular septal defect, Short philtrum, Atrial septal defect, High p...	OMIM:618354
Joubert Syndrome 20	Renal cyst	OMIM:614970
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Platyspondyly, Osteosclerosis of ribs, Lumbar hyperlordosis, Genu ...	ORPHA:174
Cutis Laxa, Autosomal Recessive, Type Iic	Narrow naris, Biventricular hypertrophy, Narrow mouth, Mitral valve prolapse, Atrial septal defec...	OMIM:617402
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Decreased calvarial ossification, Joint hypermobility, Wormian bones, ...	OMIM:616229
Parkes Weber Syndrome	Abnormality of the urinary system, Arteriovenous malformation, Urinary retention, Vascular tortuo...	ORPHA:90307
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Micrognathia, Cryptorchidism, Atrial septal defect, Aplasia/hypoplasia of the femur, High palate,...	OMIM:609945
Lymphatic Malformation 7	Chylothorax, Pleural effusion, Pulmonary edema, Atrial septal defect, Varicose veins, Pericardial...	OMIM:617300
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Bulbous no...	OMIM:620025
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Hypoplasia of the odontoid process, Ulnar deviation of the wrist, Joint stiffness,...	OMIM:253010
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Cleft lip, Short 1st metacarpal, Long philtru...	OMIM:620568
Pyruvate Dehydrogenase E1-Alpha Deficiency	Polymicrogyria, Intrauterine growth retardation, Ventricular septal defect, Recurrent aspiration ...	ORPHA:79243
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Broad columella, Downturned corners of mouth, Widely spaced teeth, Open m...	OMIM:617865
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Multiple renal cysts	OMIM:614883
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect	OMIM:619608
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal cerebral vascular morphology, Abnormal venous morphology, Nephroblastoma, Ovarian serous...	ORPHA:276280
Oculoectodermal Syndrome	Wide nasal bridge, Depressed nasal bridge, Supernumerary nipple, Hypertrophic cardiomyopathy, Tra...	OMIM:600268
17Q23.1Q23.2 Microdeletion Syndrome	Depressed nasal bridge, Patellar hypoplasia, Widely spaced teeth, Bulbous nose, Narrow mouth, Mal...	ORPHA:261279
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Micropenis, High palate, Pericardial effu...	OMIM:617822
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Abnormality of the v...	ORPHA:239
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Hypoplasia of the maxill...	OMIM:608156
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Micrognathia, Perineal fistula, Rectal atresia, Anal atresia, Re...	ORPHA:2753
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Wide nasal bridge, Macroglossia, Bone marrow hypoc...	OMIM:617303
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Retrognathia, Long philtrum, Diastema, Macrodontia, Prominent nasal bridge...	OMIM:212066
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Wide nasal bridge, Downturned corners of mouth, Thick upper lip vermilion, Bulbous nose, Prominen...	OMIM:617360
Chromosome 3Pter-P25 Deletion Syndrome	Atrioventricular canal defect, Abnormal renal morphology	OMIM:613792
White-Sutton Syndrome	Depressed nasal bridge, Bifid uvula, Broad nasal tip, Hypoplastic cervical vertebrae, Downturned ...	OMIM:616364
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Long philtrum, Anteverted nares, Micro...	ORPHA:261250
Marshall Syndrome	Depressed nasal bridge, Bifid uvula, Macrodontia of permanent maxillary central incisor, Long phi...	OMIM:154780
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Platyspondyly, Premature osteoarthritis, Lumbar hyperlordosis, Beaking of vertebral bodies, Flexi...	OMIM:215150
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Short columella, Aganglio...	OMIM:613603
Cole-Carpenter Syndrome 2	Platyspondyly, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Recurrent fract...	OMIM:616294
Trisomy 18	Choanal atresia, Narrow palate, Microretrognathia, Narrow mouth, Cryptorchidism, Ventricular sept...	ORPHA:3380
Diaphanospondylodysostosis	Depressed nasal ridge, Depressed nasal bridge, Horseshoe kidney, Micrognathia, Missing ribs, Shor...	OMIM:608022
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Platyspondyly, Hypoplasia of the odontoid process, Ivory epiphyses of the phalanges of the hand, ...	OMIM:226980
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ...	ORPHA:97214
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Cyanosis, Spina bifida	OMIM:207950
Koolen-De Vries Syndrome	Kyphosis, Vertebral segmentation defect, Joint hypermobility, Vertebral fusion, Scoliosis, Hip di...	ORPHA:96169
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Depressed nasal bridge, Dilated cardiomyopathy, Cleft lip, Myofiber disarray, Patent foramen oval...	OMIM:620519
7Q31 Microdeletion Syndrome	Enuresis nocturna, Galactosuria, Hypoplasia of the maxilla, Long philtrum, Prominent nose, Wide n...	ORPHA:251061
Arterial Tortuosity Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Bruising susceptibility, Pr...	OMIM:208050
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, High palate, Hypoplasia of the maxilla, Short nose	OMIM:218000
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathi...	OMIM:601812
Hajdu-Cheney Syndrome	Aortic valve stenosis, Periodontitis, Open bite, Micrognathia, Narrow mouth, Ventricular septal d...	ORPHA:955
Jacobsen Syndrome	Depressed nasal bridge, Annular pancreas, Anteverted nares, Micrognathia, Cryptorchidism, Ventric...	OMIM:147791
Pulmonary Arteriovenous Malformation	Bacterial endocarditis, Transient ischemic attack, Ischemic stroke, Cyanosis, Pulmonary arteriove...	ORPHA:2038
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, At...	ORPHA:373
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Short tibia, Micrognathia, High palate, Peg-shaped max...	ORPHA:2751
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Bone marrow hypocellularity, Abnormal heart morphology, Heparan sulfate excretion i...	ORPHA:505248
Costello Syndrome	Depressed nasal bridge, Abnormality of the dentition, Thick lower lip vermilion, Hypertrophic car...	ORPHA:3071
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint...	OMIM:151200
Ellis Van Creveld Syndrome	Acute leukemia, Abnormality of the ureter, Cryptorchidism, Ventricular septal defect, Atrial sept...	ORPHA:289
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Dysplastic patella, Patellar aplasia, Short neck, Thoracolumbar scoliosis,...	OMIM:265000
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Natal tooth, Fibular aplasia, Micrognathia, Ventricular septal defe...	OMIM:300373
Difference Of Sex Development-Intellectual Disability Syndrome	Downturned corners of mouth, Hypogonadism, Thin vermilion border, Short philtrum, Hypoplasia of p...	ORPHA:2983
Ehlers-Danlos Syndrome, Classic Type, 1	Poor wound healing, Aortic root aneurysm, Bruising susceptibility, Umbilical hernia, Mitral valve...	OMIM:130000
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Patent ductus arteriosus, Atrial septal defect, Aplasia/Hypoplasia of th...	ORPHA:1860
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Fibular aplasia, Micrognathia, Hepatosplenomegaly, Patellar aplasia, Ventricular s...	OMIM:274000
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short distal phalanx of finger, Broad columella, Underdeveloped nasal alae, Horseshoe kidney, Mic...	OMIM:250410
Rere-Related Neurodevelopmental Syndrome	Choanal atresia, Abnormal heart morphology, Anteverted nares, Micrognathia, Vesicoureteral reflux...	ORPHA:494344
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Hepatosplenomegaly, Micrognathia, Narrow mouth, Cryptorchidism...	ORPHA:96334
Trisomy 10P	Depressed nasal bridge, Abnormality of the nose, Abnormal lip morphology, Short toe, Abnormal hea...	ORPHA:171929
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Depressed nasal bridge, Nephrocalcinosis, Bifid uvula, Dental crowding, Delayed eruption of teeth...	OMIM:300990
Vici Syndrome	Everted upper lip vermilion, Lymphopenia, Micrognathia, Decreased proportion of CD4-positive help...	OMIM:242840
Trisomy 20P	Abnormality of the dentition, Downturned corners of mouth, Abnormality of the ureter, Anteverted ...	ORPHA:261318
Otopalatodigital Syndrome, Type I	Wide nasal bridge, Short distal phalanx of finger, Short 3rd metacarpal, Selective tooth agenesis...	OMIM:311300
Acrofacial Dysostosis 1, Nager Type	Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Aplasia/Hypoplasia of the ...	OMIM:154400
Diamond-Blackfan Anemia 5	Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia...	OMIM:612528
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Central hypothyroidism, Downturned corners of mouth, Underdeveloped nasal...	OMIM:300912
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Depressed nasal bridge, Abnormality of the dentition, Thick vermilion border, Tented upper lip ve...	ORPHA:457395
Doors Syndrome	Short lingual frenulum, Open mouth, Adrenal hyperplasia, High palate, Downturned corners of mouth...	ORPHA:79500
Neurocardiofaciodigital Syndrome	Retrognathia, Tetralogy of Fallot, Vesicoureteral reflux, Atrial septal defect, High palate, Over...	OMIM:619869
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Thin upper lip vermilion,...	OMIM:277380
Robinow Syndrome, Autosomal Dominant 1	Small hand, Micrognathia, Short lingual frenulum, Cryptorchidism, Short hard palate, High palate,...	OMIM:180700
Zellweger Syndrome	Wide nasal bridge, Depressed nasal bridge, Multicystic kidney dysplasia, Micrognathia, Primary ad...	ORPHA:912
Hereditary Methemoglobinemia	Cyanosis	ORPHA:621
Epidermal Nevus Syndrome	Aortic aneurysm, Polycystic kidney dysplasia	ORPHA:35125
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Micrognathia, Atrial septal defect, Hypoparathyroidism, Patent ductus...	ORPHA:369837
Marshall-Smith Syndrome	Choanal atresia, Retrognathia, Anteverted nares, Gingival overgrowth, Open mouth, Protruding tong...	ORPHA:561
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Duodenal ...	OMIM:603467
Duane-Radial Ray Syndrome	Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Absent radius, Abno...	OMIM:607323
Isolated Anencephaly	Cleft lip, Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia	ORPHA:563609
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Depressed nasal bridge, Micromelia, Long philtrum, Short ribs, Ventricular septal defect, Hypopla...	OMIM:617895
Holoprosencephaly	Abnormality of the spleen, Cryptorchidism, Ventricular septal defect, Choanal atresia, Depressed ...	ORPHA:2162
Boudin-Mortier Syndrome	Aortic root aneurysm, Mitral valve prolapse	OMIM:619543
Peters Plus Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Anal atresia, Short foot, Hypospadias...	ORPHA:709
Axial Spondylometaphyseal Dysplasia	Platyspondyly, Osteopenia, Posterior wedging of vertebral bodies, Aplasia/Hypoplasia of the verte...	ORPHA:168549
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,...	OMIM:263200
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Osteopenia, Recurrent fractures, Decreased skull ossification, Decreased calvarial...	OMIM:610915
Pterygium Colli, Isolated	Short nose	OMIM:177990
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Carious teeth, Grade III vesicoureteral reflux, Cryptorchidism, Ventricular septal defect, Urethr...	OMIM:619522
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Short neck, Lumbar hyperlordosis, Joint hypermobility	OMIM:612813
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Small hand, Intestinal malrotation, Malar flattening, Sh...	ORPHA:93259
Cooper-Jabs Syndrome	Anteriorly placed anus, Anteverted nares, Malar flattening, Ventricular septal defect, Missing ribs	ORPHA:1488
Cornelia De Lange Syndrome 1	Micrognathia, Cryptorchidism, Ventricular septal defect, High palate, Ectopic kidney, Hypospadias...	OMIM:122470
Mosaic Trisomy 20	Spinal canal stenosis, Vertebral segmentation defect, Limited pronation/supination of forearm, Ve...	ORPHA:1724
White Forelock With Malformations	Deep philtrum, Atrial septal defect, Abnormal palate morphology	ORPHA:2475
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Patent foram...	OMIM:618748
Gm1 Gangliosidosis	Depressed nasal ridge, Depressed nasal bridge, Broad nasal tip, Cardiomyopathy, Cherry red spot o...	ORPHA:354
Arthrogryposis, Distal, Type 2A	Wide nasal bridge, Whistling appearance, Dental crowding, Underdeveloped nasal alae, Pursed lips,...	OMIM:193700
Cohen Syndrome	High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the z...	ORPHA:193
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Transient ischemic atta...	ORPHA:183
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Micrognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Deep p...	OMIM:619833
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Oroticaciduria, Ventricular septal defect, Hematuria, P...	OMIM:258900
Floating-Harbor Syndrome	Carious teeth, Cryptorchidism, Atrial septal defect, Celiac disease, Hypospadias, Short 1st metac...	OMIM:136140
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Abdominal Obesity-Metabolic Syndrome 3	Stroke, Coronary artery stenosis	OMIM:615812
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Ventricular septal defect...	OMIM:312870
Infantile Liver Failure Syndrome 3	Platyspondyly, Beaking of vertebral bodies, Abnormal acetabulum morphology, Hypoplastic vertebral...	OMIM:618641
Apert Syndrome	Choanal atresia, Depressed nasal bridge, Bifid uvula, Dental malocclusion, Delayed eruption of te...	OMIM:101200
Geleophysic Dysplasia 2	Aortic valve stenosis, Long philtrum, Mitral stenosis, Mitral valve prolapse, Thin upper lip verm...	OMIM:614185
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Open mouth, Tented upper lip v...	OMIM:618430
Antley-Bixler Syndrome	Choanal atresia, Hypoplasia of the zygomatic bone, Long philtrum, Anteverted nares, Narrow mouth,...	ORPHA:83
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Natal tooth, Volvulus, Micrognathia, Short nose	OMIM:617802
X Small Rings	Aortic root aneurysm, Long philtrum, Upper limb undergrowth, Anteverted nares, Mitral stenosis, L...	ORPHA:96201
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hepatosplenomegaly, Cleft soft palate, Narrow mouth, Cryptorchidism, Ventricular septal defect, H...	OMIM:619503
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,...	ORPHA:352665
Osteoglophonic Dysplasia	Hypoplastic scapulae, Cryptorchidism, Chordee, High palate, Short foot, Hypospadias, Short metaca...	OMIM:166250
Degcags Syndrome	Chronic kidney disease, Hepatosplenomegaly, Micrognathia, Pancytopenia, Protruding tongue, Crypto...	OMIM:619488
Phelan-Mcdermid Syndrome	Wide nasal bridge, Dental malocclusion, Long philtrum, Widely spaced teeth, Bulbous nose, Microgn...	OMIM:606232
Orofaciodigital Syndrome I	Carious teeth, Ankyloglossia, Ovarian cyst, High palate, Polycystic kidney dysplasia, Abnormal he...	OMIM:311200
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Galactosuria, Depressed nasal bridge, Small hand, Mandibular prognathia, Organic a...	ORPHA:85276
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Anteverted nares, Micrognathi...	OMIM:619005
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Wide nasal bridge, Long philtrum, Prominent nose, Malar flattening, Abnormal mitral valve morphol...	ORPHA:1292
Gapo Syndrome	High, narrow palate, Depressed nasal bridge, Eruption failure, Long philtrum, Thick lower lip ver...	OMIM:230740
Mosaic Variegated Aneuploidy Syndrome	Depressed nasal ridge, Multicystic kidney dysplasia, Colon cancer, Stomach cancer, Intestinal pol...	ORPHA:1052
Hoxha-Aliu Syndrome	Wide nasal bridge, Short distal phalanx of finger, Short fifth metatarsal, Short 4th toe, Foot ol...	OMIM:620662
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility	OMIM:617333
Holoprosencephaly 7	Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Unilateral cleft lip, ...	OMIM:610828
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Varicose veins, Pa...	OMIM:153400
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Median pseudocleft lip, Micrognathia, Cryptorchidism, Ventricular sept...	OMIM:616462
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, Micrognathia, Thin upper lip vermilion, Deep philtrum, High palate, Short nose	ORPHA:329178
Orofaciodigital Syndrome Vi	Hypoplastic left heart, Broad nasal tip, Short femur, Lobulated tongue, Cleft upper lip, Hamartom...	OMIM:277170
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Venous malformation, Nephroblastoma	OMIM:612918
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Epistaxis, Hyperaldosteronism, Adrenal hyperplasia, Ventricular septal d...	ORPHA:369929
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis, Skeletal muscle atrophy	ORPHA:2400
Lathosterolosis	Anisopoikilocytosis, Downturned corners of mouth, Long philtrum, Horseshoe kidney, Bulbous nose, ...	ORPHA:46059
Schneckenbecken Dysplasia	Platyspondyly, Advanced tarsal ossification, Narrow vertebral interpedicular distance, Short neck...	OMIM:269250
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Osteopenia, Carpal synostosis, Increased susceptibility to fractures, Kyphoscolios...	OMIM:615349
Ectopia Lentis 1, Isolated, Autosomal Dominant	Aortic root aneurysm, Mitral valve prolapse	OMIM:129600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypoplasia of the odontoid process, Decreased proportion of CD8-positive T cells, Lymphopenia, Mi...	ORPHA:508533
Nicolaides-Baraitser Syndrome	Wide nasal base, High, narrow palate, Long philtrum, Thick lower lip vermilion, Widely spaced tee...	OMIM:601358
Keutel Syndrome	Wide nasal bridge, Depressed nasal bridge, Pulmonary artery hypoplasia, Peripheral pulmonary arte...	OMIM:245150
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Cryptorchidism, Ventricular septal defect, Hydronephrosis, ...	OMIM:613001
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Abnormal heart morphology, Cryptorchidism, Atrial septal defect, Anal atresia,...	OMIM:175700
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Depressed nasal ridge, Long philtrum, Bulbous nose, Micrognathia, Cryp...	ORPHA:261337
Hardikar Syndrome	Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Ventricular septal defect, Bilateral cleft ...	OMIM:301068
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Biventricular hypertrophy, Left ventricular hypertrophy, Patent foramen ovale, Ventricular septal...	OMIM:615474
Anauxetic Dysplasia 3	Platyspondyly, Genu valgum, Joint hypermobility, Beaking of vertebral bodies, Hip subluxation, Th...	OMIM:618853
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Abnormal heart morphology, Micrognathia, Abnormal aortic valve morp...	ORPHA:261197
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Long philtrum, Abnormal heart valve mor...	ORPHA:1340
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Fontaine Progeroid Syndrome	Micrognathia, Narrow mouth, Protruding tongue, Cryptorchidism, Bicuspid aortic valve, Atrial sept...	OMIM:612289
Von Willebrand Disease	Gastrointestinal angiodysplasia, Abnormal mitral valve morphology, Venous insufficiency	ORPHA:903
Holoprosencephaly 3	Depressed nasal bridge, Bifid uvula, Cleft lip, Abnormality of the nose, Proboscis, Short columel...	OMIM:142945
Distal Deletion 9P	Wide nasal bridge, High, narrow palate, Abnormality of the dentition, Short nose, Hypospadias, Cl...	ORPHA:1642
Al Amyloidosis	Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Abnormal P wave, Abnormal pul...	ORPHA:85443
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Prominent scalp veins, Micrognathia, Narrow mouth, Cryptorchidism, Atrial ...	ORPHA:536471
Penile Agenesis	Depressed nasal bridge, Hydroureter, Bilateral renal hypoplasia, Unilateral renal hypoplasia, Cry...	ORPHA:49
Ring Chromosome 7 Syndrome	Wide nasal bridge, Bifid uvula, Small hand, Short 5th finger, Mandibular prognathia, Narrow naris...	ORPHA:1449
Autosomal Dominant Robinow Syndrome	Open bite, Micrognathia, Cryptorchidism, Anodontia, Hypospadias, Short nose, Epispadias, Abnormal...	ORPHA:3107
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Broad nasal tip, Carious teeth, Prominent veins on trunk, Long philtrum, Anteverted nares, Malar ...	ORPHA:357074
Cantú Syndrome	Platyspondyly, Delayed skeletal maturation, Cuboid-shaped vertebral bodies, Short neck, Accelerat...	ORPHA:1517
Tangier Disease	Coronary artery stenosis, Facial diplegia, Left ventricular hypertrophy, Carotid artery stenosis,...	ORPHA:31150
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Depressed nasal bridge, Rhizomelia, Microretrognathia, Aortic root aneurysm, Long philtrum, 11 pa...	OMIM:245600
Fibromuscular Dysplasia, Multifocal	Pulmonary artery aneurysm, Celiac artery dissection, Dental crowding, Tortuous cerebral arteries,...	OMIM:619329
3Q29 Microduplication Syndrome	Wide nasal bridge, Abnormality of the dentition, Ventricular septal defect, Ectopic anus, Deep ph...	ORPHA:251038
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Abnormal heart valve morpholog...	ORPHA:230851
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cryptorchidism, Bilateral cleft palate, Short hard palate, Anterior...	OMIM:610829
Hyperparathyroidism 2 With Jaw Tumors	Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren...	OMIM:145001
Loeys-Dietz Syndrome 4	Aortic root aneurysm, Aortic dissection, Bruising susceptibility, Arterial tortuosity, Dilatation...	OMIM:614816
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Aplasia/Hypoplasia of the thumb, Short hallux, Short palm, High palate, S...	ORPHA:93258
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Osteopenia, Delayed skeletal maturation, Limited elbow extension, Carpal bone hypo...	OMIM:616723
Meier-Gorlin Syndrome 6	Depressed nasal bridge, Depressed nasal ridge, Microretrognathia, Underdeveloped nasal alae, Decr...	OMIM:616835
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Depressed nasal bridge, Renal hypoplasia, Small hand, Severe B lymphocytopenia,...	OMIM:620005
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Micrognathia, Short lingual frenulum, Cryptorchidism, Ventricular septal d...	ORPHA:96121
Aicardi-Goutieres Syndrome 1	Vasculitis, Erythema, Cardiomyopathy, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Purpura	OMIM:225750
Monosomy 22	Retrognathia, Long philtrum, Hepatosplenomegaly, Open mouth, Aplasia of the thymus, Hypochromic m...	ORPHA:96123
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Absent thumb, Short thumb, Aplastic anemia, Horseshoe kidney, Ventricu...	OMIM:610832
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Increased variability in muscle fiber diameter, Skeletal muscle atrophy,...	ORPHA:17
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, E...	ORPHA:363618
Mowat-Wilson Syndrome	Tooth malposition, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Prominent nas...	OMIM:235730
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Rhizomelia, Distal shortening of limbs, 11 pairs of ribs, Hypoplasia of th...	OMIM:300863
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Limitation of joint mobility, Lumbar hyperlord...	OMIM:223800
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Anteverted nares, Vesicoureteral reflux, Narrow mouth, Hydronephrosis, Thin upp...	OMIM:613735
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Abnormal heart morphology, Diastasis recti, Ventricular septal defect	ORPHA:254534
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ...	OMIM:123700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection...	OMIM:602450
Pallister-Hall Syndrome	Natal tooth, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, Ventricular septal d...	ORPHA:672
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Cryptorchidism, Mitral valve prolapse, Atrial septal de...	OMIM:615873
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Platyspondyly, Osteopenia, Delayed skeletal maturation, Lumbar hyperlordosis, Genu valgum, Limite...	OMIM:271510
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ...	OMIM:259770
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Cranioectodermal Dysplasia 2	Micrognathia, Atrial septal defect, Everted lower lip vermilion, High palate, Patent ductus arter...	OMIM:613610
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Portal hypertension, Cerebral berry aneurysm	OMIM:210050
Bartsocas-Papas Syndrome 1	Tessier cleft, Anal stenosis, Hypoplastic scapulae, Hypoplasia of the maxilla, Absent thumb, Unde...	OMIM:263650
Goldberg-Shprintzen Syndrome	Wide nasal bridge, Small hand, Hypoplasia of the maxilla, Bulbous nose, Prominent nasal bridge, V...	OMIM:609460
Warburg Micro Syndrome 3	Downturned corners of mouth, Decreased testicular size, Micrognathia, Micropenis, Narrow palate, ...	OMIM:614222
Bcard Syndrome	Abnormality of the dentition, Downturned corners of mouth, Dilatation of the cerebral artery, Ant...	OMIM:612394
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Finger aplasia, Velopharyngeal insufficiency, Hypoplasia of the zygomatic bone, Micrognathia, Ves...	OMIM:620663
Schinzel-Giedion Midface Retraction Syndrome	Depressed nasal bridge, Macroglossia, Short distal phalanx of finger, Hydroureter, Short 1st meta...	OMIM:269150
Floating-Harbor Syndrome	Carious teeth, Cryptorchidism, Atrial septal defect, Celiac disease, Long nose, Hypospadias, Poly...	ORPHA:2044
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Conotruncal defect, Protruding tongue, Cryptorchidism,...	OMIM:610253
Phocomelia, Schinzel Type	High, narrow palate, Finger aplasia, Micromelia, Aplasia/Hypoplasia of the sacrum, Foot oligodact...	ORPHA:2879
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hyperten...	ORPHA:209905
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Cardiomyopathy, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Craniofacial osteosclerosis, Increased skull ossificatio...	OMIM:618476
ERI1-related disease	Depressed nasal bridge, Velopharyngeal insufficiency, Abnormal heart morphology, Micrognathia, Ve...	OMIM:608739
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste...	OMIM:618775
Mucopolysaccharidosis, Type Vii	Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo...	OMIM:253220
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Short nose	OMIM:611936
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Depressed nasal bridge, Tooth malposition, Hypoplasia of the maxilla, Abno...	OMIM:277600
Erythrocytosis, Familial, 2	Stroke, Cerebral hemorrhage, Varicose veins	OMIM:263400
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Increased susceptibility to fractures, Decreased calv...	OMIM:241500
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Polymicrogyria, Tetralogy of Fallot, Ventricular s...	OMIM:100300
Hall-Riggs Syndrome	Platyspondyly, Joint stiffness, Scoliosis, Delayed skeletal maturation	ORPHA:2107
Tempi Syndrome	Abnormality of the pulmonary vasculature, Intracranial hemorrhage, Telangiectasia, Transudative p...	ORPHA:284227
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma	OMIM:135150
Foix-Alajouanine Syndrome	Functional abnormality of the bladder, Urinary retention, Venous malformation, Neurogenic bladder...	ORPHA:79093
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Wormian bones, Absent ossification of calvaria, Multiple prenatal fractures, Recur...	OMIM:166210
Sillence Syndrome	Abnormal vertebral morphology, Platyspondyly, Intervertebral disk degeneration, Camptodactyly, Fl...	ORPHA:3168
Hajdu-Cheney Syndrome	Dental malocclusion, Long philtrum, Intestinal malrotation, Anteverted nares, Micrognathia, Narro...	OMIM:102500
Cutis Laxa, Autosomal Recessive, Type Iia	Carious teeth, Long philtrum, Anteverted nares, Narrow mouth, Malar flattening, High palate, Shor...	OMIM:219200
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Depressed nasal bridge, Renal hypoplasia, Peripheral pulmonar...	OMIM:118450
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal heart morphology, Polycystic kidney dysplasia	OMIM:263210
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Patent foramen ovale	OMIM:614582
Kaposi Sarcoma	Venous insufficiency	ORPHA:33276
Kabuki Syndrome 1	Anoperineal fistula, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defec...	OMIM:147920
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Situs inversus...	ORPHA:991
Dravet Syndrome	Limited neck range of motion, Cyanotic episode	ORPHA:33069
Renal Nutcracker Syndrome	Dilatation of mesenteric artery, Renal artery stenosis, Hematuria, Proteinuria, Vulval varicose v...	ORPHA:71273
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm, Narrow nose, Type II diabetes mellitus, Submucous cleft hard palate, Chorde...	OMIM:618891
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Crypto...	ORPHA:3472
Rhombencephalosynapsis	Microretrognathia, Anteverted nares, Narrow mouth, Aganglionic megacolon, Tracheoesophageal fistu...	ORPHA:59315
Hereditary Bullous Dystrophy, Macular Type	Abnormal heart morphology, Acrocyanosis	ORPHA:1867
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Joint dislocation, Thoracic platyspondyly, Genu valgum, Li...	OMIM:618019
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Downturned corners of mouth, Malar flattening, Thin upper lip vermilion, ...	OMIM:618590
Atelosteogenesis, Type I	Depressed nasal bridge, Rhizomelia, Short finger, Vertebral hypoplasia, Fibular aplasia, Microgna...	OMIM:108720
Tetrasomy 5P	Wide nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Short hallux, High palate, Shor...	ORPHA:3309
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Underdeveloped nasal alae, Widely spaced teeth, Bulbous nose, Cryptorchidism, ...	OMIM:615803
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Underdeveloped nasal alae, Anteverted nares, Renal cyst, Glossoptos...	ORPHA:2031
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thoracolumbar kyphosis, Disc-like vertebral bodies, Decreased cranial base ossification, Short ne...	OMIM:151210
Orofaciodigital Syndrome X	Finger aplasia, Depressed nasal bridge, Retrognathia, Fibular aplasia, Cleft palate	OMIM:165590
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Erythema, Purpura, Acrocyanosis, Urticaria	ORPHA:343
Myhre Syndrome	Abnormal penis morphology, Bifid uvula, Gingival cleft, Craniofacial hyperostosis, Hypoplasia of ...	ORPHA:2588
Linear Skin Defects With Multiple Congenital Anomalies 1	Colonic atresia, Anteriorly placed anus, Histiocytoid cardiomyopathy, Ventricular septal defect, ...	OMIM:309801
Thanatophoric Dysplasia, Type I	Platyspondyly, Short neck, Gray matter heterotopia, Severe platyspondyly	OMIM:187600
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Arterial rupture, Bruising susceptibility, Atrial septal defect	OMIM:619115
Cerebrooculonasal Syndrome	Narrow palate, Downturned corners of mouth, Proboscis, Long philtrum, Anteverted nares, Prominent...	OMIM:605627
Adams-Oliver Syndrome 5	Right atrial enlargement, Pulmonic stenosis, Right ventricular hypertrophy, Patent foramen ovale	OMIM:616028
Meester-Loeys Syndrome	Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Poor wound healing, Umbilical...	OMIM:300989
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Varicose vein...	ORPHA:33001
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Depressed nasal bridge, Tooth malposition, Narrow palate, Hypoplasia of th...	OMIM:608328
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Wide nasal bridge, Accessory spleen, Long philtrum, Depressed nasal tip, Exaggerated cupid's bow,...	OMIM:619306
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia	OMIM:236500
Juvenile Polyposis Of Infancy	High, narrow palate, Depressed nasal bridge, Intestinal bleeding, Protein-losing enteropathy, Mid...	ORPHA:79076
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Dental crowding, Micrognathia, Malar flattening, ...	ORPHA:2789
Ayme-Gripp Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Craniofacial asymmetry, ...	OMIM:601088
Fryns Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Anal atresia, Hypospadias, Duode...	OMIM:229850
Scleromyxedema	Abnormal pulmonary artery morphology, Abnormal coronary artery morphology, Transient ischemic att...	ORPHA:167635
Microlissencephaly-Micromelia Syndrome	Abnormal circulating calcium-phosphate regulating hormone concentration, Micromelia, Long philtru...	ORPHA:50810
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Abnormal aortic morphology, Nephroblastoma	ORPHA:1001
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Choanal atresia, Broad alveolar ridges, Cleft lip, Annular pancreas, Duodenal atresia, Bulbous no...	OMIM:616975
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Platyspondyly, Hypoplasia of the odontoid process, Delayed skeletal maturation, Kyphoscoliosis, W...	OMIM:300232
Williams Syndrome	Carious teeth, Open bite, Micrognathia, Type II diabetes mellitus, Cryptorchidism, Mitral valve p...	ORPHA:904
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Myhre Syndrome	Aortic valve stenosis, Hypoplasia of the maxilla, Cleft lip, Short toe, Short finger, Prominent n...	OMIM:139210
Carnitine-Acylcarnitine Translocase Deficiency	Rhabdomyolysis, Cyanosis, Cardiomyopathy	ORPHA:159
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Hemivertebrae, Vertebral fusion, Scoliosis	ORPHA:377
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis	OMIM:306400
10Q22.3Q23.3 Microdeletion Syndrome	Atrioventricular canal defect, Tricuspid valve prolapse, Patent ductus arteriosus	ORPHA:276413
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Arteriovenous malformation, Aplasia/Hypoplasia of the uvula, Micro...	ORPHA:84
Pontocerebellar Hypoplasia, Type 8	Anteverted nares, Tented upper lip vermilion, Patent foramen ovale, Ventricular septal defect	OMIM:614961
Myopathy With Extrapyramidal Signs	Anteverted nares, Tented upper lip vermilion, Splenomegaly, Leukocytosis, Ventricular septal defect	OMIM:615673
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Narrow mouth, Malar flattening, Thin upper lip vermilio...	ORPHA:357001
2Q31.1 Microdeletion Syndrome	Downturned corners of mouth, Long philtrum, Bulbous nose, Micrognathia, Cryptorchidism, Ventricul...	ORPHA:251014
Frontometaphyseal Dysplasia 2	Wide nasal bridge, Depressed nasal bridge, Pyloric stenosis, Broad nasal tip, Bifid uvula, Ulcera...	OMIM:617137
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Supernumerary nipple, Open mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect...	ORPHA:466791
Microphthalmia, Syndromic 3	Butterfly vertebrae, Hemivertebrae, Vertebral fusion, Patent ductus arteriosus, Vertebral hypoplasia	OMIM:206900
21Q22.11Q22.12 Microdeletion Syndrome	Dental crowding, Downturned corners of mouth, Thick lower lip vermilion, Bulbous nose, Anteverted...	ORPHA:261323
Rothmund-Thomson Syndrome, Type 2	Depressed nasal bridge, Small hand, Mandibular prognathia, Annular pancreas, Delayed eruption of ...	OMIM:268400
Hypoglossia-Hypodactyly Syndrome	Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Hypoplasia of t...	ORPHA:989
Esophageal Atresia	Tetralogy of Fallot, Coarctation of aorta, Cyanosis, Ventricular septal defect	ORPHA:1199
Adenylosuccinase Deficiency	Long philtrum, Elevated urinary succinylaminoimidazole carboxamide riboside level, Anteverted nar...	OMIM:103050
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Camptodactyly, Flexion contra...	ORPHA:487796
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Long philtrum, Prominent nasal bridge, Micrognathia, Smooth p...	OMIM:300749
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Microretrognathia, Anteriorly placed anus, Hamartoma of tongue, Unilatera...	OMIM:615948
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Micrognathia, Short nose	ORPHA:1129
Nabais Sa-De Vries Syndrome, Type 2	Hypoplastic left heart, Multicystic kidney dysplasia	OMIM:618829
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Narrow mouth, Cryptorchidism,...	ORPHA:2166
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, High, narrow palate, Anteverted nares, Micrognathia, Protruding tongue, Malar flat...	OMIM:214100
Pulmonary Alveolar Microlithiasis	Oxygen desaturation on exertion, Calcification of the aorta, Cyanosis, Mitral valve calcification...	ORPHA:60025
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion	ORPHA:370010
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Dental malocclusion, Anteverted nares, Prominent nasal bridge, Wide mouth, Cryptor...	OMIM:227330
Spondyloperipheral Dysplasia	Platyspondyly, Acetabular spurs, Limited elbow extension, Short neck, Flat acetabular roof, Kypho...	OMIM:271700
Mogs-Cdg	Retrognathia, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Ina...	ORPHA:79330
Atelosteogenesis Type I	Platyspondyly, Joint dislocation, Absent or minimally ossified vertebral bodies, Abnormal ossific...	ORPHA:1190
Distal Deletion 19P	Hypoplasia of the maxilla, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve a...	ORPHA:96129
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Joint swelling, Osteolysis, Fused cervical vertebrae	OMIM:612852
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Hypoplasia of the odontoid process, Underdeveloped nasal alae, Long philt...	OMIM:616007
Trichohepatoenteric Syndrome 1	Galactosuria, Depressed nasal ridge, Bifid uvula, Long philtrum, Tetralogy of Fallot, Anteverted ...	OMIM:222470
Beck-Fahrner Syndrome	Long philtrum, Open mouth, Ventricular septal defect, Cardiomegaly, High palate	OMIM:618798
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Short 5th toe, Cleft soft palate, Cryptorchidism, Ventricular septal defec...	ORPHA:268261
3Mc Syndrome 1	Short 5th finger, Cleft lip, Dental crowding, Cleft upper lip, Supernumerary nipple, Ventricular ...	OMIM:257920
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Ventricular sep...	OMIM:613404
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Bulbous nose, Micrognathia, Cryptorchidism, Patent foramen ovale, Ventricul...	OMIM:613884
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Abnormality of...	ORPHA:2438
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho...	OMIM:208900
Spondyloepiphyseal Dysplasia, Nishimura Type	Small hand, Elevated circulating parathyroid hormone level, Short nose	OMIM:618618
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Lymphopenia, Hepatosplenomegaly, Abnormal intestine morph...	ORPHA:391487
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Recurrent lower respiratory tract infections, Secundum atrial septal defect	OMIM:620194
Lymphatic Malformation 13	Depressed nasal bridge, Long philtrum, Patent foramen ovale, Smooth philtrum, Atrial septal defec...	OMIM:620244
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, M...	OMIM:261740
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Long philtrum, Intestinal malrotation, Short columella, Narrow mouth, Cryptorc...	OMIM:601776
Charge Syndrome	Narrow mouth, Cryptorchidism, Patent ductus arteriosus, Choanal atresia, Tetralogy of Fallot, Aor...	ORPHA:138
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Kaposiform Lymphangiomatosis	Pancreatic cysts, Abnormal lymphatic vessel morphology, Multiple renal cysts, Pericardial effusio...	ORPHA:464329
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Rhizomelia, Annular pancreas, Decreased serum insulin-like growth factor 1, At...	OMIM:618162
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Congestive heart failure, Emphysema, D...	ORPHA:90349
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Genu valgum, Kyphoscoliosis, Carpal bone hypoplasia	OMIM:184253
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic...	ORPHA:887
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Cardiomegaly, Myoglo...	ORPHA:228308
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Peho Syndrome	Anteverted nares, Gingival overgrowth, Open mouth, Abnormal upper lip morphology, Abnormal palate...	ORPHA:2836
Williams-Beuren Syndrome	Open mouth, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial septa...	OMIM:194050
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Renal dysplasia, Renal insufficiency, Cardiomegaly, Hydronephrosis, Long-...	OMIM:608836
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Arteriovenous malformation, Arterial stenosis, Displacement of the ...	ORPHA:1556
Tbck-Related Intellectual Disability Syndrome	Wide nasal bridge, High, narrow palate, Long philtrum, Decreased response to growth hormone stimu...	ORPHA:488632
Meckel Syndrome 14	Occipital encephalocele, Increased nuchal translucency, Cyanosis, Short neck, Single ventricle	OMIM:619879
Autosomal Recessive Faciodigitogenital Syndrome	Long philtrum, Open bite, Anteverted nares, Prominent nasal bridge, Micrognathia, Deep philtrum, ...	ORPHA:1974
Dysosteosclerosis	Platyspondyly, Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibil...	OMIM:224300
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Cardiomyopathy, Stroke-like episode, Proteinuria, Renal cyst, Pericardial e...	OMIM:212065
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Heart Block, Congenital	Myocardial calcification, Absent atrioventricular node, Cardiomyopathy, Myocardial fibrosis	OMIM:234700
Cystic Echinococcosis	Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Renal cyst, Membranous nephropathy	ORPHA:400
Fucosidosis	Cardiomegaly, Vascular skin abnormality, Acrocyanosis, Decreased muscle mass	ORPHA:349
Loeys-Dietz Syndrome 1	Descending thoracic aorta aneurysm, Bifid uvula, Pulmonary artery aneurysm, Aortic root aneurysm,...	OMIM:609192
High Altitude Pulmonary Edema	Hypoxemia, Cyanosis	ORPHA:330012
Acquired Purpura Fulminans	Intracranial hemorrhage, Acrocyanosis, Macular purpura	ORPHA:49566
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Platyspondyly, Delayed epiphyseal ossification, Cuboid-shaped vertebral bodies, Anterior scallopi...	OMIM:611717
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormality of the dentition, Short distal phalanx of finger, Micrognathia, Narrow mouth, Aplasia...	ORPHA:90154
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Depressed nasal bridge, Ectopic anterior pituitary gland, Anteverted nares, Ventricular septal de...	OMIM:620558
Cutis Laxa, Autosomal Recessive, Type Iid	Wide nasal bridge, Retrognathia, Narrow naris, Hypertrophic cardiomyopathy, Bulbous nose, Bilater...	OMIM:617403
Clapo Syndrome	Capillary malformation of the lip, Venous malformation, Lymphangioma, Varicose veins	ORPHA:168984
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Aplastic clavicle, Micromelia, Hamartoma of tongue, Short ribs, Atrial se...	OMIM:616546
Garg-Mishra Progeroid Syndrome	Platyspondyly, Persistent open anterior fontanelle, Ovoid vertebral bodies	OMIM:620601
Noonan Syndrome 7	Depressed nasal bridge, Hypertrophic cardiomyopathy, Abnormal esophagus morphology, Atrial septal...	OMIM:613706
Achondrogenesis, Type Ia	Depressed nasal bridge, Hypoplastic nasal bridge, Hypoplastic scapulae, Severe limb shortening, H...	OMIM:200600
Basal Cell Nevus Syndrome 1	Vertebral wedging, Kyphoscoliosis, Hemivertebrae, Irregular ossification of hand bones, Vertebral...	OMIM:109400
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Skeletal muscle atrophy, Coarctation of aorta, Prolonged prothromb...	OMIM:614300
Proboscis Lateralis	Unilateral renal agenesis, Choanal atresia, Abnormality of the maxillary sinus, Abnormal facial s...	ORPHA:141099
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Microretrognathia, Long philtrum, Short finger, Dilatation of the ventricu...	ORPHA:459070
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Small hand, Micrognathia, Cryptorchidism, Ventricular septal defect...	ORPHA:199
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebr...	OMIM:619656
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Presynaptic Congenital Myasthenic Syndromes	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Distal low...	ORPHA:98914
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epi...	ORPHA:157
Congenital Myasthenic Syndrome	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Distal low...	ORPHA:590
Aymé-Gripp Syndrome	Depressed nasal bridge, Long philtrum, Breast hypoplasia, Narrow mouth, Cryptorchidism, Oligodont...	ORPHA:1272
Codas Syndrome	Depressed nasal bridge, Hypoplasia of the odontoid process, Delayed eruption of teeth, Atrioventr...	OMIM:600373
Tuberous Sclerosis 1	Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Renal cell...	OMIM:191100
Osteogenesis Imperfecta, Type I	Osteopenia, Increased susceptibility to fractures, Biconcave flattened vertebrae, Joint hypermobi...	OMIM:166200
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Downturned corners of mouth, Short nose, Thick vermilion border	ORPHA:1185
Axial Osteomalacia	Renal cyst	OMIM:109130
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Hypoplastic nasal bridge, Retrognathia, Long philtrum, Left ventricular hypertrophy, Atrial septa...	OMIM:620510
Diets-Jongmans Syndrome	Broad nasal tip, Wide mouth, Cryptorchidism, Ventricular septal defect, Thin upper lip vermilion,...	OMIM:618846
Desbuquois Dysplasia 2	Platyspondyly, Knee dislocation, Lumbar hyperlordosis, Joint hypermobility, Short neck, Radial he...	OMIM:615777
Necrotizing Enterocolitis	Abnormal heart morphology, Cyanosis	ORPHA:391673
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Hypodontia, Narrow nasal bridge, Short nose	ORPHA:544503
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Hypospadias, Unilateral renal agenesis, Ventricular septal defect, Hydrone...	ORPHA:464311
Bardet-Biedl Syndrome 6	Renal cyst, Hypospadias	OMIM:605231
Tuberous Sclerosis Complex	Chronic kidney disease, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal insufficiency,...	ORPHA:805
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial sep...	ORPHA:818
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Osteogenesis Imperfecta, Type X	Platyspondyly, Osteopenia, Genu valgum, Thoracic scoliosis, Generalized joint hypermobility, Decr...	OMIM:613848
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Mitral valve pro...	ORPHA:500095
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Vater/Vacterl Association	Hypospadias, Renal agenesis, Renal dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Uretero...	OMIM:192350
White-Kernohan Syndrome	Depressed nasal bridge, Hydroureter, Retrognathia, Underdeveloped nasal alae, Anteriorly placed a...	OMIM:619426
Chand Syndrome	Hypohidrosis, Atelectasis	ORPHA:1401
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Short distal phalanx of finger, Short nose, Cerebral hemorrhage	OMIM:277450
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Arterial dissection, Aortic dissection, Abnormal venous morphology, Mitral valve prolapse, Aortic...	ORPHA:1900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Mesomelia, Microglossia, Hamartoma of tongue, Intestinal malrotation, Ventricular septal defect, ...	OMIM:263520
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Short nose	OMIM:618087
Lethal Kniest-Like Dysplasia	Platyspondyly, Short neck, Coronal cleft vertebrae, Hypoplastic vertebral bodies	ORPHA:2347
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Depressed nasal bridge, Choanal atresia, Long philtrum, Malar flattening, Choanal stenosis, Atria...	OMIM:207410
Focal Dermal Hypoplasia	Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Ventricular septal def...	ORPHA:2092
Restrictive Dermopathy	Choanal atresia, Microcolon, Natal tooth, Aplasia/Hypoplasia involving the nose, Temporomandibula...	ORPHA:1662
Stuve-Wiedemann Syndrome 1	Wide nasal base, Carious teeth, Smooth tongue, Pursed lips, Short tibia, Anteverted nares, Microg...	OMIM:601559
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph...	ORPHA:1834
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Platyspondyly, Thoracolumbar kyphosis, Kyphoscoliosis, Dislocated radial head, Cervical instabili...	OMIM:617425
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Depressed nasal bridge, Conical tooth, Hypoplasia of the maxilla...	OMIM:305100
Cadds	Micrognathia, Adrenal hypoplasia, Short nose	ORPHA:369942
Monosomy 9P	Depressed nasal bridge, Choanal atresia, Abnormality of the dentition, Long philtrum, Anteverted ...	ORPHA:261112
Stickler Syndrome	Depressed nasal bridge, Depressed nasal ridge, Bifid uvula, Hypoplasia of the maxilla, Microretro...	ORPHA:828
Smith-Lemli-Opitz Syndrome	Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypospadias, Paten...	OMIM:270400
Schinzel-Giedion Syndrome	Abnormality of the ureter, Micrognathia, Streak ovary, High palate, Hypospadias, Short nose, Broa...	ORPHA:798
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro...	ORPHA:2461
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Spina bifida occulta, Butterfly vertebrae, Fused cervical vertebrae	OMIM:619227
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral valve prol...	OMIM:613795
Thanatophoric Dysplasia, Type Ii	Platyspondyly	OMIM:187601
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar scoliosis, Lumbar hyperlordosis, Cervical C2/C3 vertebral fusion	OMIM:617796
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Aortic dissection, Arterial calcification, Medial calcification of large...	ORPHA:51608
Mgat2-Cdg	Dental crowding, Abnormal heart morphology, Open mouth, Ventricular septal defect, Hypoplastic ni...	ORPHA:79329
Geleophysic Dysplasia 1	Aortic valve stenosis, Wide nasal bridge, Long philtrum, Anteverted nares, Mitral stenosis, Thin ...	OMIM:231050
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Mhc Class I Deficiency 1	Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis	OMIM:604571
Orofaciodigital Syndrome Type 14	Microretrognathia, Lobulated tongue, Bilateral cryptorchidism, Hamartoma of tongue, Bulbous nose,...	ORPHA:434179
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis	ORPHA:1302
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertension, Recurrent respiratory infections, Secundum atrial septal defect	OMIM:619758
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Genu varum, Abnormal carpal morphology	ORPHA:85166
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Joint contracture of the 5th finger	OMIM:614407
Deeah Syndrome	Narrow palate, Retrognathia, Long philtrum, Decreased response to growth hormone stimulation test...	OMIM:619004
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Atrial septal defect, Thrombocyt...	ORPHA:457351
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Long philtrum, Breast hypoplasia, Narrow mouth, Malar flattening, Cryptor...	OMIM:601353
Tuberous Sclerosis 2	Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Renal cell...	OMIM:613254
Joubert Syndrome 39	Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Carotid artery occlusion, Aortic valve calcificat...	ORPHA:740
Opsismodysplasia	Renal phosphate wasting, Depressed nasal bridge, Rhizomelia, Hypoplasia of the odontoid process, ...	OMIM:258480
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia, Phocomelia	ORPHA:3004
Meckel Syndrome, Type 10	Micropenis, Renal cyst, Hypospadias	OMIM:614175
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Broad nasal tip, Dental crowding, Sh...	OMIM:617157
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Unde...	ORPHA:306542
Treacher Collins Syndrome 2	Choanal atresia, Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Micrognathia,...	OMIM:613717
Spondyloenchondrodysplasia With Immune Dysregulation	Platyspondyly, Rheumatoid arthritis, Lumbar hyperlordosis, Sclerosis of skull base, Joint swellin...	OMIM:607944
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Urolithiasis, Renal insufficiency, Wide mouth, Cryptorchidism, Hyperurico...	OMIM:300661
Acromesomelic Dysplasia 4	Platyspondyly, Thoracic platyspondyly, Lumbar hyperlordosis, Genu valgum, Thoracic scoliosis, Bea...	OMIM:619636
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Dental crowding, Downturned corners of mouth, Widely spaced teeth, Bulbous nose, ...	OMIM:618268
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Cardiomyopathy, Abnormal heart morphology, Lacticac...	ORPHA:26791
Eosinophilic Fasciitis	Myositis, Muscular edema, Acrocyanosis	ORPHA:3165
Congenital Myopathy 22B, Severe Fetal	Wide nasal bridge, Dental crowding, Retrognathia, Micrognathia, Tented upper lip vermilion, Trian...	OMIM:620369
Juvenile Polyposis Syndrome	Abnormal onset of bleeding, Gastrointestinal hemorrhage, Hematochezia, Arteriovenous malformation...	ORPHA:2929
Lissencephaly 9 With Complex Brainstem Malformation	Pachygyria, Lissencephaly, Ventricular septal defect	OMIM:618325
Noonan Syndrome	Juvenile myelomonocytic leukemia, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Abnorma...	ORPHA:648
Noonan Syndrome 1	High, narrow palate, Dental malocclusion, Juvenile myelomonocytic leukemia, Hypertrophic cardiomy...	OMIM:163950
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Achondroplasia	Lumbar hyperlordosis, Limited elbow extension, Generalized joint hypermobility, Narrow vertebral ...	OMIM:100800
Frontofacionasal Dysplasia	Bifid uvula, Hypoplasia of the frontal bone, Underdeveloped nasal alae, Cleft upper lip, Midline ...	OMIM:229400
Frontometaphyseal Dysplasia	Joint contracture of the hand, Interphalangeal joint contracture of finger, Camptodactyly of fing...	ORPHA:1826
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hypoplastic coccygeal vertebrae, Dilation of Virchow-Robin spaces, Long philtrum, Bulbous nose, M...	OMIM:619512
Marfanoid-Progeroid-Lipodystrophy Syndrome	Aortic root aneurysm, Bruising susceptibility, Progeroid facial appearance, Reduced subcutaneous ...	OMIM:616914
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Hypospadias, Unilateral renal agenesis, Ventricular septal defect, Hydrone...	ORPHA:464306
Kbg Syndrome	Delayed skeletal maturation, Short neck, Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis	OMIM:148050
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Renal hypoplasia, Breast aplasia, Absent hand, Cryptorchidism, Ve...	ORPHA:3138
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Atrioventricular canal defect, Coarctation of aorta, Patent ductus arteriosus, Horseshoe kidney	OMIM:617088
Aicardi-Goutières Syndrome	Moyamoya phenomenon, Hypertrophic cardiomyopathy, Cutis marmorata, Calcification of the aorta, Mu...	ORPHA:51
Pontocerebellar Hypoplasia, Type 2E	Micrognathia, Short nose, Wide nose	OMIM:615851
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Micrognathia, Ventricular septal defect, Short hard palate, Glossop...	ORPHA:1393
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Type I diabetes mellitus, Bilateral choanal atresia, Underdeveloped nasal a...	OMIM:619525
Phace Syndrome	Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo...	ORPHA:42775
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Long philtrum, Congenital hypothyroidism, Micrognathia, Tented upper lip vermilion, Smooth philtr...	OMIM:617527
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Gray matter heterotopia, Right atrial enlargement, Lissencephaly, Simplifie...	OMIM:615219
Encephalocraniocutaneous Lipomatosis	Interrupted aortic arch, Aortic valve stenosis, Abnormal aortic morphology, Tricuspid valve prola...	ORPHA:2396
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Short nose, Broad philtrum, Wide mouth, Cleft palate, Wide nose	ORPHA:1394
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Ureteral stenosis, Anteverted nares, Narrow mouth, Cryptorchidism, Abnorm...	ORPHA:2719
Lymphatic Malformation 6	Intestinal lymphangiectasia, Micrognathia, Splenomegaly, Hypothyroidism, Atrial septal defect, Va...	OMIM:616843
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Narrow mouth, Cryptorchidis...	ORPHA:95699
Dend Syndrome	Downturned corners of mouth, Long philtrum, Anteverted nares, Elevated hemoglobin A1c, Short nose	ORPHA:79134
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Joint contracture of the 5th finger, Joint contracture of the 4th finger, Patent foramen ovale, S...	OMIM:618914
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Hypertrophic cardiomyopathy, Secundum atrial septal defect, Facial diplegia, Perisylvian polymicr...	OMIM:619121
Turnpenny-Fry Syndrome	Abnormality of the dentition, Small hand, Dental malocclusion, Downturned corners of mouth, Denta...	OMIM:618371
Neurooculorenal Syndrome	Ectopic posterior pituitary, Unilateral renal agenesis, Short 1st metacarpal, Central hypothyroid...	OMIM:620305
C Syndrome	Depressed nasal bridge, Multicystic kidney dysplasia, Micromelia, Long philtrum, Horseshoe kidney...	ORPHA:1308
Coffin-Siris Syndrome 1	Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Atrial septal defec...	OMIM:135900
Neurodegeneration With Brain Iron Accumulation 2A	Micrognathia, Short nose	OMIM:256600
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Megacystis, Multicystic kidney dysplasia, Neoplasm of the heart, Hydroureter	ORPHA:2241
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Osteopenia, Hypoplastic acetabulae, Butterfly vertebrae, Decreased calvarial ossif...	OMIM:620076
Cutis Laxa, Autosomal Recessive, Type Ia	Aortic regurgitation, Peripheral pulmonary artery stenosis, Vascular tortuosity, Emphysema, Supra...	OMIM:219100
Opsismodysplasia	Hypoplastic vertebral bodies, Depressed nasal bridge, Splenomegaly, Short nose	ORPHA:2746
Schimke Immunoosseous Dysplasia	Platyspondyly, Osteopenia, Shallow acetabular fossae, Lumbar hyperlordosis, Short neck, Ovoid ver...	OMIM:242900
Congenital Disorder Of Glycosylation, Type Ig	Recurrent upper respiratory tract infections, Patent ductus arteriosus, Recurrent pneumonia, Pate...	OMIM:607143
Atrial Septal Defect, Ostium Secundum Type	Transient ischemic attack, Cyanosis, Abnormal mitral valve morphology, Stroke, Right atrial enlar...	ORPHA:99103
Aneurysm-Osteoarthritis Syndrome	Arterial dissection, Bifid uvula, Dental malocclusion, Aortic dissection, Retrognathia, Arterial ...	ORPHA:284984
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Wide nasal bridge, Depressed nasal bridge, Accessory spleen, Microretrognathia, Polysplenia, Sple...	OMIM:619418
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Anteverted nares, Gingi...	OMIM:300868
Monosomy 9Q22.3	Delayed eruption of teeth, Long philtrum, Narrow mouth, Cardiac fibroma, Orofacial cleft, Ovarian...	ORPHA:77301
Aicardi Syndrome	Block vertebrae, Polymicrogyria, Gray matter heterotopia, Butterfly vertebrae, Hemivertebrae, Pac...	OMIM:304050
Arnold-Chiari Malformation Type I	Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Scoliosis, Fused...	ORPHA:268882
Carpenter Syndrome 2	Carious teeth, Narrow naris, Supernumerary nipple, Cryptorchidism, Atrial septal defect, Dextroca...	OMIM:614976
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Abnormal heart morphology, Vesicoureteral reflux, Renal insufficiency,...	ORPHA:2237
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Flared nostrils, Tooth malposition, Small hand, Atrial septal defect, High palat...	ORPHA:480880
Lipodystrophy, Familial Partial, Type 7	Spontaneous pneumothorax, Lower limb muscle weakness, Pleural effusion, Pulmonary arteriovenous m...	OMIM:606721
Witteveen-Kolk Syndrome	Flared nostrils, Small hand, Male urethral meatus stenosis, Hyperplasia of the maxilla, Narrow mo...	OMIM:613406
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort...	ORPHA:391665
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Atelectasis	ORPHA:534
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Atrial septal defect, Short nose, Hypoplasia of the maxilla, Absent thumb, Do...	ORPHA:500150
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Rag...	OMIM:252010
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Restrictive Dermopathy 2	Cyanosis	OMIM:619793
Alg12-Cdg	Recurrent pneumonia, Pachygyria, Biventricular hypertrophy, Muscular ventricular septal defect, I...	ORPHA:79324
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Treacher Collins Syndrome 1	Choanal atresia, Abnormal heart morphology, Cleft soft palate, Narrow mouth, Micrognathia, Malar ...	OMIM:154500
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Small hand, Broad nasal tip, Long philtrum, Thick lower lip vermilion, Bu...	OMIM:309590
Congenital Disorder Of Glycosylation, Type Iim	Wide nasal bridge, Mandibular prognathia, Open mouth, Ureteropelvic junction obstruction, Exagger...	OMIM:300896
Hyperoxaluria, Primary, Type I	Peripheral arterial stenosis, Cutis marmorata, Acrocyanosis	OMIM:259900
Menke-Hennekam Syndrome 1	Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Ever...	OMIM:618332
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Sponastrime Dysplasia	Aplasia of the nasal bone, Hypoplasia of the nasal bone, Neutropenia, Short foot, Hypospadias, Sh...	ORPHA:93357
Restrictive Dermopathy 1	Choanal atresia, Depressed nasal bridge, Natal tooth, Temporomandibular joint ankylosis, Microgna...	OMIM:275210
Magel2-Related Prader-Willi-Like Syndrome	Precocious puberty, Small pituitary gland, Small hand, Xerostomia, Downturned corners of mouth, C...	ORPHA:398069
Congenital Disorder Of Glycosylation, Type Iiaa	Patent ductus arteriosus after premature birth, Persistent patent ductus venosus, Knee flexion co...	OMIM:620454
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Open mouth, Cryptorchidis...	ORPHA:261537
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Short hallux, High palate, Mesomelic arm...	OMIM:268305
Koolen-De Vries Syndrome Due To A Point Mutation	Pear-shaped nose, Open mouth, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, A...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Pear-shaped nose, Open mouth, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, A...	ORPHA:363958
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Micropenis, Wi...	OMIM:617798
Mowat-Wilson Syndrome	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Open mouth, Cryptorchidis...	ORPHA:2152
Chromosome 1P36 Deletion Syndrome, Distal	Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial se...	OMIM:607872
Hypothyroidism, Congenital, Nongoitrous, 5	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea...	OMIM:225250
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Bruising susceptibility, Emphysema, Dilata...	OMIM:130050
Idiopathic Pulmonary Fibrosis	Orthodeoxia, Acrocyanosis	ORPHA:2032
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Arboleda-Tham Syndrome	Narrow mouth, Ventricular septal defect, Short hallux, Atrial septal defect, Patent ductus arteri...	OMIM:616268
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Open mouth, Cryptorchidis...	ORPHA:261552
Plaa-Associated Neurodevelopmental Disorder	Long philtrum, Micrognathia, Tented upper lip vermilion, Smooth philtrum, High palate, Short nose	ORPHA:521426
Renal Agenesis	Pulmonary hypoplasia, Hypertension, Ventricular septal defect	ORPHA:411709
Mietens Syndrome	Wide nasal bridge, Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Wide nose	ORPHA:2557
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect	OMIM:619135
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst	OMIM:614091
Acrocephalopolydactylous Dysplasia	Micromelia, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Short nose, Hypoplasia of the sm...	OMIM:200995
Neonatal Marfan Syndrome	Abnormal cardiac ventricle morphology, Aortic root aneurysm, Mitral valve prolapse, Tricuspid val...	ORPHA:284979
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Aicardi Syndrome	Block vertebrae, Polymicrogyria, Butterfly vertebrae, Pachygyria, Scoliosis	ORPHA:50
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Hypoplastic aortic arch, Open mouth, Anteverted nares	ORPHA:457284
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Limb hypertonia, Cyanosis	OMIM:619580
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Macroglossia, Atrial septal defect	ORPHA:93947
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Depressed nasal bridge, Pancreatic fibrosis, Short ribs, Ventricular septal defect	OMIM:615503
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Vascular tortuosity...	OMIM:614437
Molybdenum Cofactor Deficiency, Type A	Increased urinary taurine, Decreased urinary urate, Long philtrum, Increased urinary hypoxanthine...	OMIM:252150
Neurodevelopmental Disorder With Spasticity And Poor Growth	Patent foramen ovale, Knee flexion contracture, Limb hypertonia, Achilles tendon contracture, Rec...	OMIM:618076
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Absent thumb, Short thumb, Horseshoe kidney, Pancytopenia, Cryptorch...	OMIM:227645
Saul-Wilson Syndrome	Platyspondyly, Hypoplasia of the odontoid process, Madelung deformity, Irregular vertebral endplates	OMIM:618150
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Atrioventricular canal defect, Cyst of the ductus choledochus, Coarctation of aorta, Patent ductu...	OMIM:619480
Von Hippel-Lindau Disease	Cardiomyopathy, Elevated urinary catecholamine level, Stroke, Multiple renal cysts, Renal cell ca...	ORPHA:892
Aica-Ribosiduria Due To Atic Deficiency	Secundum atrial septal defect	OMIM:608688
Familial Idiopathic Dilatation Of The Right Atrium	Cardiomegaly, Abnormal vena cava morphology, Right atrial enlargement, Abnormal jugular vein morp...	ORPHA:1677
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Aortic root aneurysm, Mitral valve prolapse	ORPHA:449291
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Cryptorchidism, Mitral v...	OMIM:616202
Schwartz-Jampel Syndrome	Elbow dislocation, Genu valgum, Hip contracture, Short neck, Protrusio acetabuli, Spinal rigidity...	ORPHA:800
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Hepatosplenomegaly, Micrognathia, Cryptorchidism, Splenomegaly, Ventricular septal d...	OMIM:614866
Coffin-Lowry Syndrome	Narrow palate, Thick nasal septum, Broad columella, Dental malocclusion, Thick lower lip vermilio...	OMIM:303600
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal cyst, Renal hypoplasia, Patent ductus arteriosus	OMIM:616300
Limb Body Wall Complex	Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Cleft lip, Abnormal heart morphology,...	ORPHA:2369
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Depressed nasal bridge, Peripheral pulmonary artery stenosis, Renal tubular ...	OMIM:619575
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Diastasis recti...	ORPHA:576
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Ante...	OMIM:181450
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy...	OMIM:231680
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ankyloglossia, Ventricular septal defect, Hematuria, Bicuspid aortic valve, High palate, Hypospad...	OMIM:619475
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Platyspondyly, Hip subluxation, Carpal synostosis, Pathologic fracture, Genu valgum, Kyphoscolios...	OMIM:271640
Classical Ehlers-Danlos Syndrome	Arterial dissection, Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Umbilical...	ORPHA:287
Pallister-Killian Syndrome	Aortic valve stenosis, Small hand, Supernumerary nipple, Micrognathia, Cryptorchidism, Ventricula...	OMIM:601803
Wiedemann-Steiner Syndrome	Wide nasal bridge, Rhizomelia, Long philtrum, Decreased response to growth hormone stimulation te...	ORPHA:319182
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Vertebral wedging, Decreased calvarial ossification	OMIM:617866
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the tongue, Tooth agenesis, Breast aplasi...	ORPHA:570
Den Hoed-De Boer-Voisin Syndrome	Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Wi...	OMIM:619229
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Atrial septal defect, Short nose	ORPHA:522077
Trichorhinophalangeal Syndrome, Type Ii	Recurrent pneumonia, Recurrent upper respiratory tract infections, Internal carotid artery dissec...	OMIM:150230
Neu-Laxova Syndrome 1	Depressed nasal ridge, Micromelia, Cleft upper lip, Thick lower lip vermilion, Micrognathia, Cryp...	OMIM:256520
Greenberg Dysplasia	Platyspondyly, Fractured rib, Ectopic ossification, Supernumerary vertebral ossification centers,...	OMIM:215140
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Ureterocele, Urinary retention...	ORPHA:79404
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr...	ORPHA:2973
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico...	OMIM:113650
Duane Retraction Syndrome	Abnormal form of the vertebral bodies, Short neck, Camptodactyly, Spina bifida occulta, Abnormal ...	ORPHA:233
Wolf-Hirschhorn Syndrome	Wide nasal bridge, Downturned corners of mouth, Abnormal lip morphology, Cleft upper lip, Abnorma...	ORPHA:280
Alveolar Echinococcosis	Abnormal pericardium morphology, Hepatic cysts, Abnormal bladder morphology, Renal cyst, Pancreat...	ORPHA:284
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Wide nasal bridge, Bifid uvula, Broad nasal tip, Long philtrum, Malar flattening, Ventricular sep...	OMIM:620330
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Jaberi-Elahi Syndrome	Triangular mouth, Depressed nasal bridge, Short nose	OMIM:617988
Roberts-Sc Phocomelia Syndrome	Hyperplasia of the maxilla, Narrow naris, Micrognathia, Cryptorchidism, Ventricular septal defect...	OMIM:268300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Short foot, Polycy...	OMIM:210710
Classical-Like Ehlers-Danlos Syndrome Type 2	Webbed neck, Aortic root aneurysm, Bruising susceptibility, Prominent veins on trunk, Umbilical h...	ORPHA:536532
Multiple Mitochondrial Dysfunctions Syndrome 7	Partial atrioventricular canal defect, Cyanosis	OMIM:620423
Schimke Immuno-Osseous Dysplasia	Platyspondyly, Shallow acetabular fossae, Lumbar hyperlordosis, Short neck, Ovoid vertebral bodies	ORPHA:1830
Livedoid Vasculopathy	Abnormal capillary morphology, Ischemic stroke, Venous insufficiency, Varicose veins	ORPHA:542643
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Volvulus, Intestinal malrotation, Bulbous nose, Cryptorchidism, Ventricular s...	OMIM:616682
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Microcephaly 30, Primary, Autosomal Recessive	Intrauterine growth retardation, Secundum atrial septal defect	OMIM:620183
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Hyperinsulinemia, Micrognathia, Gastrointestinal angiodyspla...	ORPHA:99413
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Intrauterine growth retardation, Ventricular septal defect, Hyperhidrosis, Bradycardia, Retinal h...	OMIM:614653
Mosaic Monosomy X	Inflammation of the large intestine, Hyperinsulinemia, Micrognathia, Gastrointestinal angiodyspla...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Hyperinsulinemia, Micrognathia, Gastrointestinal angiodyspla...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Hyperinsulinemia, Micrognathia, Gastrointestinal angiodyspla...	ORPHA:881
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Trichothiodystrophy 1, Photosensitive	Retrognathia, Hypogonadism, Intestinal obstruction, Triangular mouth, Short nose	OMIM:601675
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Intrauterine growth retardation, ...	OMIM:610505
Sepsis In Premature Infants	Cyanosis, Jaundice, Purpura, Petechiae	ORPHA:90051
Osteogenesis Imperfecta, Type Vii	Absent pulmonary artery, Hypoplastic pulmonary veins	OMIM:610682
Genitopatellar Syndrome	Wide nasal bridge, Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bowel, Delay...	OMIM:606170
1P36 Deletion Syndrome	Dilated cardiomyopathy, Abnormal heart valve morphology, Tetralogy of Fallot, Aortic arch aneurys...	ORPHA:1606
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Abnormality of the ureter, Anteverted nares, Aganglionic megacolon, Sh...	ORPHA:3339
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate	ORPHA:2736
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Molybdenum Cofactor Deficiency, Type B	Increased urinary taurine, Decreased urinary urate, Long philtrum, Increased urinary hypoxanthine...	OMIM:252160
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent...	OMIM:619573
Immunodeficiency 23	Erythema, Aortic root aneurysm, Vasculitis in the skin	OMIM:615816
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c...	OMIM:102700
Congenital Bile Acid Synthesis Defect Type 2	Renal cyst, Dark urine	ORPHA:79303
Costello Syndrome	Depressed nasal bridge, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Anteverted nares,...	OMIM:218040
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Platyspondyly, Joint stiffness, Severe platyspondyly, Scoliosis, Ovoid vertebral bodies	OMIM:608940
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Secundum atrial septal defect	OMIM:620242
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Abnormal localization of kidney, Overriding aorta, Renal hypoplasia/aplasia	ORPHA:3186
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Lumbar hyperlordosis, Kyphosis	OMIM:616482
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma	ORPHA:2869
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Platyspondyly, Joint hypermobility, Carpal bone hypoplasia, Short neck, Irregular vertebral endpl...	OMIM:610442
Wolf-Hirschhorn Syndrome	Wide nasal bridge, Craniofacial asymmetry, Malrotation of small bowel, Precocious puberty, Access...	OMIM:194190
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Downturned corners of mouth, Intestinal malrotation, Decreased testicular size,...	OMIM:619321
Warburg Micro Syndrome 2	Micropenis, Prominent nasal bridge, Cryptorchidism, Short nose	OMIM:614225
Acro-Renal-Ocular Syndrome	Vertebral fusion, Vertebral segmentation defect	ORPHA:959
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
1P21.3 Microdeletion Syndrome	Micrognathia, Broad nasal tip, Wide mouth, Short nose	ORPHA:293948
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Peters-Plus Syndrome	Micrognathia, Short lingual frenulum, Cryptorchidism, Ventricular septal defect, Atrial septal de...	OMIM:261540
Campomelia, Cumming Type	Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts	ORPHA:1318
Gm1 Gangliosidosis Type 1	Platyspondyly, Beaking of vertebral bodies T12-L3, Acetabular dysplasia, Hypoplastic vertebral bo...	ORPHA:79255
Meckel Syndrome, Type 6	Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder	OMIM:612284
Townes-Brocks Syndrome	Hypospadias, Renal hypoplasia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Renal in...	ORPHA:857
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Vesicoureteral reflux, Patent foramen ovale, Hydronephr...	ORPHA:96149
Familial Adenomatous Polyposis 4	Renal cyst, Ovarian cyst	OMIM:617100
Diphallia	Penoscrotal transposition, Absent thumb, Duplicated colon, Horseshoe kidney, Abnormal heart morph...	ORPHA:227
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the odontoid process, Micromelia, Lo...	OMIM:271665
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Accelerated skeletal maturation, Delayed skeletal maturation, Pachygyria	ORPHA:93317
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anomalous origin of left subclavian artery, Precocious puberty, Retrognathia, Increased circulati...	ORPHA:438213
Postinfectious Vasculitis	Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cerebral vasculitis, Cutis marmorata, I...	ORPHA:48435
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Coarctation of aorta, Vascu...	OMIM:249000
Mody	Nephropathy, Renal cyst, Glycosuria, Abnormality of the kidney	ORPHA:552
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Spondyloenchondrodysplasia	Platyspondyly, Lower limb pain, Arthritis, Juvenile rheumatoid arthritis, Kyphosis	ORPHA:1855
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal dental pulp morphology, Long philtrum, Abnormal heart morphology, Hypertrophic cardiomyo...	ORPHA:363700
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Osteopenia, Scoliosis, Large knee	OMIM:619269
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Genitourinary And/Or Brain Malformation Syndrome	Ileal atresia, Long philtrum, Micrognathia, Streak ovary, Cryptorchidism, Aplasia of the nasal bo...	OMIM:618820
Early Infantile Epileptic Encephalopathy	Precocious puberty, Depressed nasal bridge, Ureterocele, Short finger, Anteverted nares, Ventricu...	ORPHA:1934
Poems Syndrome	Pericardial effusion, Acrocyanosis, Plethora	ORPHA:2905
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atrophy	OMIM:615802
Occipital Horn Syndrome	Platyspondyly, Synostosis of joints, Hip dislocation, Osteopenia, Rickets, Delayed cranial suture...	ORPHA:198
Mayer-Rokitansky-Kuster-Hauser Syndrome	Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,...	OMIM:277000
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Coombs-positive hem...	ORPHA:83471
Otopalatodigital Syndrome, Type Ii	Depressed nasal bridge, Short thumb, Rudimentary fibula, Micrognathia, Narrow mouth, Malar flatte...	OMIM:304120
Dermatomyositis	Vasculitis, Erythema, Shawl sign, V-sign, Inflammatory myopathy, Myositis, Facial erythema, Limb-...	ORPHA:221
Hypermobile Ehlers-Danlos Syndrome	Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Umbilical hernia, Mitral valv...	ORPHA:285
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff...	ORPHA:93111
Occipital Horn Syndrome	Platyspondyly, Persistent open anterior fontanelle, Genu valgum, Limited elbow extension, Joint h...	OMIM:304150
Marfan Syndrome	Arterial dissection, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Skelet...	ORPHA:558
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency	OMIM:608091
Menkes Disease	Arterial stenosis, Venous insufficiency, Bladder diverticulum, Vascular dilatation, Intracranial ...	ORPHA:565
Trichothiodystrophy	High, narrow palate, Carious teeth, Retrognathia, Cardiomyopathy, Increased mean corpuscular hemo...	ORPHA:33364
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Osteopenia, Platyspondyly, Congenital hip dislocation, Joint di...	OMIM:225400
Choanal Atresia	Cyanosis	ORPHA:137914
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Vascular dilatati...	ORPHA:2750
Branchio-Oculo-Facial Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis	ORPHA:1297
Apert Syndrome	Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect	ORPHA:87
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Marfan Syndrome	Mitral annular calcification, Pulmonary artery dilatation, Aortic root aneurysm, Aortic dissectio...	OMIM:154700
Cockayne Syndrome Type 3	Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Premature coro...	ORPHA:90324
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Micrognathia, Ventricular septal defect, Atrial septal defe...	OMIM:619991
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Scoliosis, Ovoid vertebral bodies	ORPHA:85167
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car...	ORPHA:75565
Distal Deletion 3P	Atrioventricular canal defect	ORPHA:1620
Aspartylglucosaminuria	Wide nasal bridge, Abnormality of the dentition, Carious teeth, Aspartylglucosaminuria, Gingival ...	ORPHA:93
Msh3-Related Attenuated Familial Adenomatous Polyposis	Renal cyst, Ovarian dermoid cyst	ORPHA:480536
Craniotubular Dysplasia, Ikegawa Type	Wide nasal bridge, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Anteverte...	OMIM:619727
Sarcoidosis, Susceptibility To, 1	Emphysema, Pleural effusion, Pulmonary infiltrates, Pulmonary arterial hypertension, Pericardial ...	OMIM:181000
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R...	OMIM:243910
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Combined Oxidative Phosphorylation Deficiency 15	Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson...	OMIM:614947
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Vesicou...	OMIM:107480
Alpha-Mannosidosis, Infantile Form	Platyspondyly, Osteopenia, Talipes valgus, Joint stiffness, Genu valgum, Joint hypermobility, Sho...	ORPHA:309282
Ethylene Glycol Poisoning	Facial palsy, Cyanosis	ORPHA:31826
Johanson-Blizzard Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Anal atresia, Rectovaginal fistu...	OMIM:243800
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Micrognathia, Thymus hyperplasia	OMIM:619036
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pancreatic cysts	OMIM:208500
Yunis-Varon Syndrome	Hypoplastic scapulae, Micrognathia, Cryptorchidism, Ventricular septal defect, Absent sternal oss...	OMIM:216340
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Acromesomelic Dysplasia 1	Short toe, Short metacarpal, Hypoplasia of the radius, Short metatarsal, Acromesomelia, Short nose	OMIM:602875
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec...	OMIM:607721
Kyphomelic Dysplasia	Platyspondyly, Flat acetabular roof, Limitation of joint mobility, Pterygium	OMIM:211350
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Cyanosis	OMIM:610913
Pauci-Immune Glomerulonephritis	Arteritis, Pulmonary hemorrhage, Abnormality of the pulmonary vasculature, Purpura, Small vessel ...	ORPHA:93126
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:99880
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Knee flexion contracture, Weakness of facial musculature	OMIM:617239
Peroxisome Biogenesis Disorder 1B	Renal cyst, Hyperoxaluria	OMIM:601539
Poland Syndrome	Renal hypoplasia, Small hand, Aplasia/Hypoplasia of the radius, Ureterocele, Acute leukemia, Apla...	ORPHA:2911
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:143
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Hip dislocation, Rickets, Wrist swelling, Osteomala...	OMIM:309000
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath...	OMIM:600740
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia	OMIM:610199
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Delayed skeletal maturation, Pathologic fracture, Spondylolisthesis...	OMIM:208400
Spondyloocular Syndrome	Platyspondyly, Osteopenia, Vertebral compression fracture, Femur fracture	OMIM:605822
Proteus Syndrome	Carious teeth, Arteriovenous malformation, Venous malformation, Open mouth, Thick nasal alae, Enl...	ORPHA:744
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Rhizomelia, Short distal phalanx of finger, Delay...	OMIM:143095
2P15P16.1 Microdeletion Syndrome	Hydronephrosis, Multicystic kidney dysplasia	ORPHA:261349
Myasthenia Gravis	Myositis, Acrocyanosis	ORPHA:589
Pearson Syndrome	Glycosuria, Cardiomyopathy, Abnormal heart morphology, Renal insufficiency, Proteinuria, Renal cy...	ORPHA:699
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul...	OMIM:266920
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chylothorax, Panniculitis, Pleural effusion, Atrial septal defect	ORPHA:2526
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Limited elbow extension,...	OMIM:300106
Peroxisome Biogenesis Disorder 4B	Adrenal insufficiency, Ureterocele, Short nose	OMIM:614863
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Death in childhood, Death in infancy	OMIM:618426
Cardiogenic Shock	Cyanosis, Hypoxemia	ORPHA:97292
Bardet-Biedl Syndrome 20	Male hypogonadism, Bilateral cryptorchidism, Proteinuria, Atrial septal defect, Micropenis	OMIM:619471
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1454
Ring Chromosome 12 Syndrome	Secundum atrial septal defect	ORPHA:1439
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia	OMIM:613091
Spondylometaphyseal Dysplasia, Sedaghatian Type	Depressed nasal bridge, Rhizomelia, Short toe, Short finger, 11 pairs of ribs, Short ribs, Atrial...	OMIM:250220
Diamond-Blackfan Anemia 21	Aortic regurgitation, Secundum atrial septal defect	OMIM:620072
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia	ORPHA:3301
Von Hippel-Lindau Syndrome	Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma	OMIM:193300
Primary Hyperoxaluria	Cutis marmorata, Acrocyanosis, Cardiomyopathy	ORPHA:416
D-Bifunctional Protein Deficiency	Renal cyst	OMIM:261515
Pitt-Hopkins Syndrome	Acrocyanosis, Short neck, Failure of eruption of permanent teeth	ORPHA:2896
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro...	DECIPHER:81
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Heart murmur, Arteria lusoria, Patent foramen ovale	OMIM:618653
Meckel Syndrome	Multicystic kidney dysplasia, Situs inversus totalis, Urethral atresia, Ureteral duplication, Pan...	ORPHA:564
Sotos Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Acute lymphoblastic leukemia, Hy...	ORPHA:821
Beckwith-Wiedemann Syndrome	Nephropathy, Hypertrophic cardiomyopathy, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis,...	ORPHA:116
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect, Patent duc...	OMIM:613355
Microphthalmia With Limb Anomalies	Horseshoe kidney, Venous insufficiency	ORPHA:1106
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis	OMIM:223900
Bardet-Biedl Syndrome	Chronic kidney disease, Cardiomyopathy, Abnormal heart morphology, Horseshoe kidney, Vesicoureter...	ORPHA:110
Pancreatic And Cerebellar Agenesis	Flexion contracture, Secundum atrial septal defect, Severe intrauterine growth retardation	OMIM:609069
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cleft vertebral arch, Contracture of the distal interphalangeal joint of the fingers, Coronal cra...	ORPHA:83617
Familial Dysautonomia	Acrocyanosis	ORPHA:1764
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Mckusick-Kaufman Syndrome	Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula	OMIM:236700
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Recurrent urinary tract infections, Reduced renal corticomedullary...	ORPHA:731
Joubert Syndrome 21	Renal cyst, Hyperechogenic kidneys	OMIM:615636
Acrorenal-Mandibular Syndrome	Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder	OMIM:200980
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
Chilton-Okur-Chung Neurodevelopmental Syndrome	Epistaxis, Aplasia of the right hemidiaphragm, Intrauterine growth retardation, Patent foramen ov...	OMIM:619841
Mandibuloacral Dysplasia Progeroid Syndrome	Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale, Left ventricular hypertrophy...	OMIM:619127
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis	ORPHA:293987
Neurofibromatosis-Noonan Syndrome	Secundum atrial septal defect, Pulmonic stenosis	OMIM:601321
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Platyspondyly, Enlargement of the ankles, Abnormal joint morphology, Broad carpal bones, Multiple...	ORPHA:99646
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Delayed skelet...	ORPHA:2273
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent upper respiratory tract infections, Corneal neovascularization, Neonatal death, Hypohid...	OMIM:308205
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Congenital diaphragmatic hernia, Pulmonary hypoplasia	OMIM:273395
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Renal cyst, Hypospadias	ORPHA:495875
Caroli Syndrome	Polycystic kidney dysplasia, Abnormality of the kidney	ORPHA:480520
Roberts Syndrome	Long penis, Polycystic kidney dysplasia	ORPHA:3103
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion	OMIM:211380
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula	ORPHA:93271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Multicystic kidney dysplasia, Micropenis	OMIM:615287
Goodpasture Syndrome	Cyanosis	OMIM:233450
Branchiooculofacial Syndrome	Renal cyst, Hypospadias, Renal agenesis	OMIM:113620
Norrie Disease	Venous insufficiency	ORPHA:649
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Pmm2-Cdg	Hypertrophic cardiomyopathy, Proteinuria, Abnormal renal tubule morphology, Multiple renal cysts,...	ORPHA:79318

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 Plxnd1

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 Plxnd1.

No publications found that use IMPC mice or data for Plxnd1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Plxnd1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Plxnd1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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