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Gene: Plxnd1 MGI:2154244

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue,... ORPHA:570

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ... OMIM:231060
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Truncus arteriosus, Prominent nasal bridge, Ventricular septal defect, ... ORPHA:401935
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Skraban-Deardorff Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's... OMIM:617616
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Truncus arte... OMIM:611867
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Cleft pa... ORPHA:2516
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Underdeveloped nasal alae, Cleft palate, Tr... OMIM:601355
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Brachyolmia Type 2
Platyspondyly OMIM:613678
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist... ORPHA:1209
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... OMIM:618845
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Scimitar Syndrome
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, ... ORPHA:185
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Br... OMIM:601927
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common... OMIM:619143
Spondyloepiphyseal Dysplasia, Kimberley Type
Delayed skeletal maturation, Platyspondyly, Genu varum, Genu valgum OMIM:608361
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... OMIM:617478
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Genu valgum, Irregular vertebral endplates, Platys... 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
Double Outlet Right Ventricle
Hypoparathyroidism, Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Su... ORPHA:3426
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Verheij Syndrome
Thin upper lip vermilion, Anteverted nares, Ventricular septal defect, Broad nasal tip, Wide nasa... OMIM:615583
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep ph... ORPHA:261120
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis OMIM:261800
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... OMIM:300845
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia OMIM:616589
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Bulbous... OMIM:192430
Stankiewicz-Isidor Syndrome
Ureteral duplication, Ventricular septal defect, Hypospadias, Micrognathia, Prominent nose, Short... OMIM:617516
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... OMIM:306955
Morquio Syndrome C
Platyspondyly OMIM:252300
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Centril... OMIM:265450
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Right aortic arch, Chronic rhinitis, Hypothyroidism, Goiter OMIM:617577
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic a... ORPHA:99050
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Microphthalmia, Syndromic 9
Ventricular septal defect, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hypoplastic le... OMIM:601186
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr... OMIM:616583
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis ORPHA:3033
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet... OMIM:271530
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Aortic valve stenosis, Pulmonic sten... OMIM:615415
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Absence Of The Pulmonary Artery
Abnormal pulmonary thoracic imaging finding, Abnormal coronary artery morphology, Cardiomegaly, A... ORPHA:980
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose ORPHA:2015
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Ge... OMIM:617719
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias OMIM:615542
17Q21.31 Microduplication Syndrome
Anteverted nares, Abnormality of the dentition, Micrognathia, High palate, Short philtrum, Delaye... ORPHA:217340
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Emanuel Syndrome
Dental crowding, Micrognathia, High palate, Atrial septal defect, Micropenis, Cryptorchidism, Pat... OMIM:609029
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Abnormal cardiac septum mo... ORPHA:1200
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed skeletal maturation, Reduced bone mineral density, Platyspondyly, Delayed ossification of... OMIM:617974
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Micrognathia, Urethral stenosis, Depressed nasal ridge, Cle... ORPHA:1727
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Mitral stenosis, Ventricular septal defect, Hypospadias, Cl... ORPHA:2008
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion, Centrilobular ground-glass opaci... OMIM:234810
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Pseudodiastrophic Dysplasia
Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis ORPHA:85174
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology OMIM:105805
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Torticollis, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Upper limb phocomelia, Abnormal heart morphology, Abnormal cardiac septum morpholog... ORPHA:294975
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft palate, Tooth agenesis, Abnormal a... ORPHA:1166
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Fetal Trimethadione Syndrome
Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathia, High palate, Transp... ORPHA:1913
Emanuel Syndrome
Dental crowding, Micrognathia, High palate, Atrial septal defect, Micropenis, Bifid uvula, Crypto... ORPHA:96170
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
White Forelock With Malformations
Atrial septal defect OMIM:277740
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... OMIM:109730
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles... ORPHA:254361
Kallmann Syndrome-Heart Disease Syndrome
Short lingual frenulum, Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Anomalous ... ORPHA:2326
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphys... ORPHA:70589
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Broad nasal tip, Micrognathia, Cryptorchidism,... OMIM:615524
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Fetal Minoxidil Syndrome
Cryptorchidism, Ventricular septal defect, Depressed nasal bridge, Micrognathia ORPHA:1918
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Protrusio acetabuli, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly... ORPHA:2619
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... OMIM:610967
Familial Aortic Dissection
Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissection, ... ORPHA:229
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
8P23.1 Duplication Syndrome
Wide nose, Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmonic ste... ORPHA:251076
Nemaline Myopathy 9
High palate, Ventricular septal defect, Cleft palate, Micrognathia OMIM:615731
Asbestos Intoxication
Right ventricular failure, Ground-glass opacification, Atelectasis, Pleural thickening, Cor pulmo... ORPHA:2302
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron... ORPHA:244
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atrioventricular canal defect, ... OMIM:264480
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... OMIM:225500
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulation test, Ad... OMIM:220210
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow palate, Macroglos... OMIM:617022
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Platyspondyly, Osteoarthritis OMIM:271600
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Tooth agenesis, Mesomelia, Abnormal mitral valve morphology, Convex nasal ridge, Ab... ORPHA:1277
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Cryptorchidism... OMIM:179613
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... OMIM:271630
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Lissencephaly, Bronchiectasis OMIM:619466
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Micrognat... OMIM:612561
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Monosomy 13Q34
Prominent nasal bridge, Epistaxis, Broad nasal tip, Prominent nose, Micrognathia, Pulmonic stenos... ORPHA:96168
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae OMIM:122600
Hadziselimovic Syndrome
Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Thi... OMIM:612946
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Overriding aorta, Prominent nasal bridge, Carious teeth, Abnormal aortic a... ORPHA:1110
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... ORPHA:1832
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... ORPHA:2306
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Catel-Manzke Syndrome
Ventricular septal defect, Micrognathia, Cleft palate, Glossoptosis, Atrial septal defect, Malar ... ORPHA:1388
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... OMIM:619657
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Ground-glass o... OMIM:610978
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Atrial septal defect, ... ORPHA:93946
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft ORPHA:3434
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
You-Hoover-Fong Syndrome
Accessory oral frenulum, Cleft palate, Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr... OMIM:608227
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus ar... ORPHA:1120
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Underd... OMIM:608572
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Short nose OMIM:300577
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... OMIM:184100
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Hypospadias, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morpholo... ORPHA:1355
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... OMIM:615297
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Cryptorchidism, Patent ductus arteriosus, High palate... ORPHA:3304
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Atrial septal defect, Pancreatic hypoplasia, Patent foramen ovale, Hypoplas... OMIM:600001
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... ORPHA:750
Spondylosis, Cervical
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruptio... OMIM:618506
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... OMIM:615996
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... ORPHA:199241
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Distal 22Q11.2 Microdeletion Syndrome
Short palm, Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Choanal ... ORPHA:261330
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Anteverted nares, Micrognathia, Precocious puberty, Delayed eruption... OMIM:619356
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp... ORPHA:99642
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Choanal... OMIM:241310
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis ORPHA:93283
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular sept... OMIM:145420
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias ORPHA:1919
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility ORPHA:168555
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
Faciocardiomelic Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Dental malocclusion, Wide mouth, Long phi... OMIM:612731
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Ring Chromosome 8 Syndrome
Anteverted nares, Abnormality of the ureter, Short nose, Hydronephrosis, Abnormal palate morphology ORPHA:1450
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Isolated Polycystic Liver Disease
Multiple renal cysts, Vascular dilatation ORPHA:2924
Tetrasomy 15Q26
Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High pala... OMIM:614846
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Scoliosis, Genu varum OMIM:618728
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Fetal Encasement Syndrome
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney OMIM:613630
Meconium Aspiration Syndrome
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Abnormal heart rate varia... ORPHA:70588
Holzgreve Syndrome
Hypoplastic left heart, Renal hypoplasia, Cleft palate, Cleft upper lip OMIM:236110
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pul... OMIM:618021
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Micrognathia, Cryptorchidis... ORPHA:2863
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil... OMIM:617056
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... ORPHA:477817
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Cryptorchidism, High palate, Everted lower lip vermilion, S... ORPHA:1695
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion bord... OMIM:615502
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis OMIM:612847
Down Syndrome
Ventricular septal defect, Atrioventricular canal defect, Pulmonary artery stenosis, Patent ductu... OMIM:190685
Tetralogy Of Fallot
Cryptorchidism, Thin vermilion border, Tetralogy of Fallot ORPHA:3303
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Prominent nose, Short philtrum, Atrial septal defect, Pulmonary artery at... OMIM:618316
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata... OMIM:611773
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Right atrial isomerism, Ureteral duplication, Ventricular septal defect, De... OMIM:270100
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava... OMIM:613759
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Unilateral renal agenesis, Micrognathia, Long nose, Carious teeth, Vel... OMIM:613680
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Bulbous nose, Patent du... OMIM:613870
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Prominent nose, Micrognathia, High, narrow palate, Hypoplas... OMIM:180849
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Fryns Syndrome
Tented upper lip vermilion, Micrognathia, Abnormal aortic arch morphology, High palate, Vesicoure... ORPHA:2059
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis, Camptodactyly of finger ORPHA:896
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:616622
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... ORPHA:94066
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu... ORPHA:284169
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Methimazole Embryofetopathy
Ventricular septal defect, Choanal atresia, Hypospadias, Abnormality of the thyroid gland, Esopha... ORPHA:1923
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi... OMIM:313420
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Bulbous nose, Patent ductus art... OMIM:618330
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr... OMIM:613982
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Wrist swelling, Irregular vertebral endplates, Abnormal hip joi... ORPHA:1159
Diabetes Insipidus, Neurohypophyseal
Wide nose, Decreased circulating osteocalcin level, Long philtrum, Short nose, Central diabetes i... OMIM:125700
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... ORPHA:3097
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b... ORPHA:2771
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection OMIM:135580
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Li-Campeau Syndrome
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Cryptorchidism, Patellar hyp... OMIM:619189
Oculoauriculofrontonasal Syndrome
Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Bifid nasal tip, Cleft lip, Micr... ORPHA:398156
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Platyspondyly, Genu valgum OMIM:609324
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal intervertebral disk morphology, Joint stiffness, Osteoarthritis, Platyspondyly, Avascula... ORPHA:1345
Femoral-Facial Syndrome
Short fourth metatarsal, Maternal diabetes, Micrognathia, Micropenis, Cryptorchidism, Absent vert... OMIM:134780
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Anal atresia, Tetralogy of Fallot, Abnormal pal... ORPHA:1381
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... OMIM:259440
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
8Q12 Microduplication Syndrome
Ventricular septal defect, Wide nasal bridge, Vesicoureteral reflux, Short foot, Everted lower li... ORPHA:228399
Perlman Syndrome
Hypoplasia of penis, Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Cryptorchid... ORPHA:2849
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... ORPHA:95430
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Neu... OMIM:612541
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal aortic arch morphology, Short philtrum, Hypoplasia of the thymus, Atrial s... ORPHA:567
8P23.1 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Pulm... ORPHA:251071
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Ventricular septal defect, Dental crowding, Intestinal malrotation, Hypospadias,... OMIM:617602
Monosomy 18Q
Mandibular prognathia, Prominent nose, Secundum atrial septal defect, Bilateral cryptorchidism, D... ORPHA:1600
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Vasculitis in the skin, Bronchiectasis OMIM:620321
Cardiac Valvular Dysplasia 1
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... OMIM:212093
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif... OMIM:208230
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic kidney dysplasia,... OMIM:173900
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... ORPHA:730
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hypospadias ORPHA:250994
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... ORPHA:90308
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Abnormal cardiac septum morphology, Thin vermilion border, Narrow mouth ORPHA:2370
3C Syndrome
Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, High, narrow palate, Orofacial cleft, Abno... ORPHA:7
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Vesicoureteral reflux, Atrial septal defect, Hypospadias,... ORPHA:353281
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return, Pulmonar... OMIM:106700
Lowry-Maclean Syndrome
Delayed eruption of teeth, Convex nasal ridge, Cleft palate, Abnormal heart morphology OMIM:600252
Lowry-Maclean Syndrome
Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ... ORPHA:2409
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Intraut... OMIM:616276
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thin upper lip vermilion, Short palm, Microretrognathia, Bicuspid aortic v... ORPHA:508498
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Thin upper lip vermilion, Anteverted nares, Dental crowding, Short toe, Pierre-... OMIM:617877
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Pne... ORPHA:99104
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal defect, Depressed nasal ... OMIM:618142
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palat... OMIM:188400
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, High palate, Delayed puberty, Short nose, Anemia, Long philtrum ORPHA:2598
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... OMIM:155050
Even-Plus Syndrome
Bifid nasal tip, Depressed nasal ridge, Vesicoureteral reflux, Renal hypoplasia, High palate, Hyp... OMIM:616854
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Ventricular septal defect, Unilateral renal agenesis, High, narrow pala... OMIM:618494
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum ORPHA:46
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... OMIM:113000
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Unilateral renal agenesis, Abnormality of the dentition, Long nose, Carious teeth, M... ORPHA:363444
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... OMIM:178110
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Enuresis, Malar flattening, Short nose, Retrognathia, Open mouth OMIM:613670
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... OMIM:314390
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Short middle phal... OMIM:614326
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Short palm ORPHA:79094
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Dental Anomalies And Short Stature
Delayed skeletal maturation, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narro... OMIM:601216
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Zechi-Ceide Syndrome
Mandibular prognathia, Wide nose, Cleft lip, Short metatarsal, Wide nasal bridge, Cleft palate, A... ORPHA:217017
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h... OMIM:615220
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Irregular vertebral endpla... OMIM:618395
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Micrognathia, Cryptorchidism, Tetralogy of Fallo... ORPHA:1926
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... ORPHA:70587
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Autosomal Recessive Amelia
Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Abnorm... ORPHA:1027
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Temple-Baraitser Syndrome
Wide nose, Depressed nasal bridge, Downturned corners of mouth, Wide mouth, Short columella, Thic... OMIM:611816
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Thick up... OMIM:619717
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short palm, Depressed nasal bridge, Anteverted nares, Hypospadias, Micrognathia, Cryptorchidism, ... ORPHA:171839
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Depressed nasal bridge, Prominent nasal bridge, Patent ductus arterios... OMIM:618974
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... ORPHA:3405
Pyle Disease
Reduced bone mineral density, Genu valgum, Platyspondyly, Scoliosis, Cubitus valgus, Limited elbo... OMIM:265900
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ... ORPHA:2345
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Long philtrum, Atrial septal defect, Short nose, Tetralogy of Fallot OMIM:300887
Maternal Phenylketonuria
Ventricular septal defect, Abnormal renal morphology, Abnormal heart morphology, Coarctation of a... ORPHA:2209
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Neon... OMIM:265380
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Prominent nose, Micrognathia, Widely spaced teeth, ... OMIM:612474
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Broad nasal tip, Wide nasal br... OMIM:620393
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Prune Belly Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hydroureter, Recurr... ORPHA:2970
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Pierpont Syndrome
Smooth philtrum, Wide nose, Broad nasal tip, Cryptorchidism, Short toe, Micropenis, Broad philtru... OMIM:602342
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Short 5th finger, A... ORPHA:52056
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... ORPHA:2847
Treacher-Collins Syndrome
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplas... ORPHA:861
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Abnormal cortical gyration, Patent ductus arter... OMIM:616867
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Pulmonary artery stenosis, A... ORPHA:75389
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Atrial septal defect, Phocomelia, Microgastria, Multicystic kidney dys... ORPHA:2538
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect,... ORPHA:513456
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega... OMIM:614749
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Long nose, Wide na... OMIM:619995
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae OMIM:230650
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, Leukopenia, Lymphopenia OMIM:620210
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm,... OMIM:616652
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Adrenal hypoplasia, Micrognathia, Pyloric... OMIM:613177
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Protruding tongue, Abnormal heart morphology DECIPHER:52
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia OMIM:615993
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Clark-Baraitser Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Down... OMIM:617752
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Hypospadias, Broad n... OMIM:619736
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... ORPHA:1906
Periventricular Nodular Heterotopia 7
Microretrognathia, Ventricular septal defect, Anteverted nares, Dental crowding, Micrognathia, Cr... OMIM:617201
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Thin upper lip vermilion, Macroorchidism, Ventricular septal defect, Promine... OMIM:309520
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Upper limb muscle weakness, Hypertension, ... ORPHA:494424
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventri... ORPHA:435638
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... OMIM:264180
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly OMIM:156510
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process ORPHA:85172
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Micromelia, Bilateral renal hypoplasia, Cleft maxillary alveolar rid... ORPHA:508488
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral cryptorchidism, Patent... OMIM:618652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scolio... OMIM:606612
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Perching Syndrome
Joint contracture, Cyanosis, Camptodactyly OMIM:617055
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... OMIM:243150
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Desquamative interstitial pneumonitis, Intraalveolar phospholipid acc... OMIM:265120
Syndromic Diarrhea
Lymphopenia, Villous atrophy, Bicuspid aortic valve, Ventricular septal defect, Gastritis, Increa... ORPHA:84064
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Renal tubular dysf... OMIM:614886
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... OMIM:601005
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Ventricular septal defect, Depressed nasal bridge, A... ORPHA:2256
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Abnormal cardiac se... ORPHA:83473
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Carious teeth, Cryptorchidism, Deep philtrum, Thick lower lip vermilion, Abnorm... ORPHA:2701
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Pulmo... OMIM:616894
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Depressed nasal bridge, Ventricular septal defect, Dental crowding, Mic... OMIM:617061
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... OMIM:600987
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Micrognathia, Patent ductus arteriosus, Duodenal stenosis, Shor... ORPHA:2547
Fetal Alcohol Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-midline cleft lip, Cleft palate, At... ORPHA:1915
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Vesicour... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Vesicour... ORPHA:353277
Robinow Syndrome
Dental crowding, Micrognathia, Orofacial cleft, Atrial septal defect, Webbed penis, Micropenis, M... ORPHA:97360
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Congenital Myopathy 11
Atrial septal defect, Weakness of facial musculature, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Filippi Syndrome
Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Serrated... OMIM:272440
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p... ORPHA:2429
Microcephaly-Capillary Malformation Syndrome
Wide nose, Ventricular septal defect, Hypoplasia of the maxilla, Vesicoureteral reflux, Cleft pal... OMIM:614261
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Anteverted nares,... OMIM:619980
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Choanal atresia, Hypospa... OMIM:300712
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Cleft upper lip, Cryptorchidis... OMIM:243310
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Ventricular septal d... OMIM:220500
Charge Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Secundum atrial septal defec... OMIM:214800
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Atrial sep... ORPHA:101028
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... ORPHA:3427
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, A... ORPHA:2001
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures... OMIM:609220
Autosomal Dominant Omodysplasia
Short humerus, Hypoplasia of penis, Depressed nasal bridge, Rhizomelia, Micrognathia, Cryptorchid... ORPHA:93328
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Micrognathia, Minimal change... OMIM:616730
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Prominent nose, Mi... OMIM:619268
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Ground-glass opacification, Atelectasis, Abnormal pulmonary interstitial... OMIM:620233
Complete Atrioventricular Septal Defect
Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o... ORPHA:1329
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Micrognathia, Pericardial effusion, Carious teeth, Multiple muscular ventri... OMIM:620070
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Char Syndrome
Ventricular septal defect, Depressed nasal bridge, Supernumerary nipple, Persistence of primary t... ORPHA:46627
Atelis Syndrome 1
Ventricular septal defect, Prominent nose, Carious teeth, Thrombocytopenia, Leukopenia, High pala... OMIM:620184
Transaldolase Deficiency
Pancytopenia, Ventricular septal defect, Depressed nasal bridge, Thrombocytopenia, Deep philtrum,... OMIM:606003
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Narrow mouth, Atrial septal... ORPHA:261295
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D... OMIM:614744
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Multiple Epiphyseal Dysplasia, Beighton Type
Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Joint stiffness, Thoracic plat... ORPHA:166011
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Mitral valve prolapse, Long philtrum, Short nose ORPHA:90653
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdevelo... ORPHA:521308
Acromicric Dysplasia
Short palm, Short metacarpal, Anteverted nares, Bulbous nose, Thick lower lip vermilion, Small ha... ORPHA:969
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Micrognathia, Short ribs, Preductal coarctation of the aorta,... OMIM:215045
Heart And Brain Malformation Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, High, narrow palate, Cleft l... OMIM:616920
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Cryptorchidism, Bulbous... ORPHA:369891
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Hypospadias ORPHA:276422
Transketolase Deficiency
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... ORPHA:488618
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Microgna... ORPHA:96097
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... ORPHA:485405
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Prominent nasal bridge, Broad nasal tip, Micrognathia, Bilateral crypto... OMIM:613544
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, Po... ORPHA:371428
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl... OMIM:313400
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Diabetes mellitus, Broad nasal tip, Recurrent upper respiratory tract infe... ORPHA:391372
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Urinary incontinence ORPHA:476126
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Developmental Delay With Or Without Dysmorphic Facies And Autism
Micrognathia, Renal cyst, Short philtrum, Microphallus, Vesicoureteral reflux, Patent foramen ova... OMIM:618454
Pallister-Hall-Like Syndrome
Median cleft lip, Depressed nasal bridge, Micromelia, Micrognathia, Cleft palate, Micropenis, Sho... OMIM:241800
Lujan-Fryns Syndrome
Macroorchidism, Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Micrognath... ORPHA:776
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Primary Pulmonary Hypoplasia
Cyanosis, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atrial septal defect, Hypoxem... ORPHA:2257
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, Wide nasal bridge, Nephrocalcinosis, Limb undergrowth, High palate, Neu... OMIM:618005
Potocki-Lupski Syndrome
Mandibular prognathia, Dental crowding, Micrognathia, Hypothyroidism, Dental malocclusion, Wide m... OMIM:610883
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, Cleft palate, Choan... ORPHA:1790
Congenital Rubella Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Intrauterine growth re... ORPHA:290
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Hydroureter, Ventricular septal defect, Depressed na... ORPHA:1458
Recombinant 8 Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Cleft upper lip, Abnormality... ORPHA:96167
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Micropenis, Tetralogy of Fallot OMIM:617925
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum ORPHA:438178
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
German Syndrome
Depressed nasal bridge, Micrognathia, Cryptorchidism, Wide nasal bridge, Orofacial cleft, Abnorma... ORPHA:2077
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Cryptorchidism, Thin vermilion border, High palate, Short philtru... OMIM:617991
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Spondylometaphyseal Dysplasia, Type A4
Ovoid vertebral bodies, Flat acetabular roof, Platyspondyly, Osteoporotic tarsals, Irregular pate... OMIM:609052
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contracture, Cardiomyop... ORPHA:258
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Midnasal stenosis, Antevert... ORPHA:280200
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis OMIM:184840
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Atrial septal def... ORPHA:79113
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, W... OMIM:619149
Noonan Syndrome 11
Depressed nasal bridge, Bulbous nose, Thick vermilion border, Pulmonic stenosis, Atrial septal de... OMIM:618499
Peroxisome Biogenesis Disorder 2A (Zellweger)
Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Aminoaciduria, Hypoplasia ... OMIM:214110
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi... ORPHA:1908
Meckel Syndrome, Type 8
Cleft upper lip, Pericardial effusion, Depressed nasal ridge, Cleft palate, Polycystic kidney dys... OMIM:613885
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Narrow nose, Bulbous nose, Abnormal cardiac ventri... ORPHA:261311
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthritis, Genu valgum, Pl... OMIM:271650
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Re... ORPHA:261494
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Micrognathia, Short thumb, Wide nasal bridge, Short 5th finger, Long philtrum, Stage ... OMIM:618821
Frontoocular Syndrome
Prominent nasal bridge, Micrognathia, Narrow philtrum, High palate, Pulmonic stenosis, Narrow mou... OMIM:605321
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Wide nasal bridge, High palate, Broad alveolar ridges, Convex nasal ridge OMIM:314320
Woods Syndrome
Ventricular septal defect, Supernumerary nipple, Wide nasal bridge, Thin vermilion border, Low ha... OMIM:615236
Phaver Syndrome
Ventricular septal defect, Depressed nasal bridge, Short thumb, Hypoplastic aortic arch, Coarctat... ORPHA:2876
Odontochondrodysplasia
Delayed eruption of teeth, Depressed nasal bridge, Micromelia, Patent ductus arteriosus, Short pa... ORPHA:166272
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Intrauterine growth retardation, Recurrent lower respiratory tract infectio... OMIM:617744
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Chromosome 9P Deletion Syndrome
Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Micropenis, ... OMIM:158170
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, D... OMIM:610536
Noonan Syndrome 12
11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st... OMIM:618624
15Q14 Microdeletion Syndrome
Ventricular septal defect, Prominent nasal bridge, Abnormality of the dentition, Cleft palate, Sh... ORPHA:261190
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Ventricular septal defect, Hypospadias, Vesicoureteral reflux, Micr... OMIM:301056
C Syndrome
Short metacarpal, Ventricular septal defect, Anteverted nares, Accessory oral frenulum, Micromeli... OMIM:211750
Coffin-Siris Syndrome 5
Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Thick lower lip vermilion, Wide mout... OMIM:616938
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Prominent nose, Micrognathia, Patent ductus arteriosus, Wide mouth, Ma... OMIM:615668
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent d... OMIM:619769
Distal Deletion 15Q
Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Short philtrum, Micropenis,... ORPHA:1596
Distal Duplication 18Q
Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal dental m... ORPHA:1716
Meier-Gorlin Syndrome 7
Urethral stricture, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defec... OMIM:617063
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Scoliosis, Reduced sperm motility OMIM:602271
Autism Spectrum Disorder Due To Auts2 Deficiency
Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Abnormal heart morphology, Sho... ORPHA:352490
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Proteinuria, Micrognathia, Cryptorchidism, Wide nasal b... OMIM:249620
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Micrognathia, Decreased response t... OMIM:614114
17P13.3 Microduplication Syndrome
Wide nose, Hypoplasia of penis, High palate, Narrow mouth, Short nose ORPHA:217385
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Parenchym... ORPHA:2902
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Anteverted nares, Ventricular septal defect, Hypospadias, Cardiomegaly, Micrognathia... OMIM:616897
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin sequence, Wi... OMIM:613604
Al-Raqad Syndrome
Atrial septal defect, Thin upper lip vermilion, Short nose, Narrow mouth OMIM:616459
Gaucher Disease, Type Ii
Double aortic arch, Trismus, Thrombocytopenia, Splenomegaly, Anemia OMIM:230900
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Flat acetabu... OMIM:256050
Coffin-Siris Syndrome 6
Depressed nasal bridge, Broad nasal tip, Micrognathia, High, narrow palate, Deep philtrum, Cleft ... OMIM:617808
Orofaciodigital Syndrome Type 5
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... ORPHA:2919
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Mitral regurgit... OMIM:615355
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Wide nasal bridge, Broad secondary alveolar ridge, High palate, Convex... ORPHA:3369
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, I... ORPHA:457193
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... ORPHA:93315
Suleiman-El-Hattab Syndrome
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Thick low... OMIM:618950
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Thoracic aortic aneurysm, Glycogen accumulation in muscle fiber lysoso... ORPHA:365
Hall-Riggs Syndrome
Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral endplates, Platyspondyly... OMIM:234250
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Broad nasal tip, Micrognathia, Ectopic kidney, Cleft palate, Abnormal heart morp... OMIM:239800
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... OMIM:618164
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Micrognathia, Abnormal palate morphology, Narrow mouth ORPHA:1495
Metatropic Dysplasia
Relatively short spine, Enlarged joints, Kyphoscoliosis, Abnormal enchondral ossification, Hypopl... OMIM:156530
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Anteverted nares, Protruding tongue, Cryptorchidism, Patent ductus art... OMIM:612938
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Micropenis, Downturned corners of mouth, Short phil... OMIM:601224
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... ORPHA:2916
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Central cyanosis, Pulmonic stenosis, Sub... OMIM:620067
Distal Triplication 15Q
Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Abnormal heart... ORPHA:314588
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... ORPHA:1529
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis OMIM:126550
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Conotruncal defect OMIM:243440
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Wide nasal bri... OMIM:618067
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defect, Mitral valve prol... OMIM:151100
Peho-Like Syndrome
Short nose, Retrognathia, Open mouth OMIM:617507
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Feingold Syndrome 1
Micrognathia, Asplenia, High palate, Accessory spleen, Anteverted nares, Esophageal atresia, Pate... OMIM:164280
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst OMIM:263630
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Anteverted nares, Cleft soft palate, Broad nasal tip, Abnormality of the d... OMIM:618529
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Pericardial effusion, Hepatosplenomegaly, Wide mouth, Abnormal cardiac se... OMIM:608776
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a... OMIM:616866
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Bicuspid aortic valve, Anteverted nares, Prominent nasal bridge, Ventricular s... ORPHA:500159
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Und... ORPHA:2315
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Hypospadias, Narrow nasal r... ORPHA:363528
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect OMIM:611174
Beta-Mercaptolactate Cysteine Disulfiduria
Anteverted nares, Micromelia, Abnormality of the ureter, High palate, Atrial septal defect, Conve... ORPHA:1035
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar... OMIM:219730
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Anteverted nares, Hypospadias, Micrognathia, Cryptorchidism, Patent ductu... OMIM:217980
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... ORPHA:1507
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Protruding tongue, Cryptorchidism, Co... ORPHA:96147
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... OMIM:614823
Abruzzo-Erickson Syndrome
Hypospadias, Coronal hypospadias, Short toe, Cryptorchidism, Cleft palate, Atrial septal defect, ... ORPHA:921
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Exaggerated cupid's bow, Dext... OMIM:618619
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, In... ORPHA:404440
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology ORPHA:3222
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal... OMIM:184252
Coffin-Siris Syndrome 4
Short philtrum, Atrial septal defect, Pulmonary artery atresia, Thick nasal alae, Depressed nasal... OMIM:614609
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Thoracic platyspondyly, Patent ductus arteriosus, Beaking of vert... OMIM:618961
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the nose ORPHA:1681
Roifman Syndrome
Noncompaction cardiomyopathy, Thin upper lip vermilion, Short metacarpal, Ventricular septal defe... OMIM:616651
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return OMIM:618313
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Micrognathia, Abnormality of the urethra, Cleft palate, Malar flattening, Short nose,... ORPHA:2145
Intellectual Developmental Disorder, Autosomal Recessive 72
Narrow nasal base, Thin upper lip vermilion, Wide nasal ridge, Broad nasal tip, Prominent nose, S... OMIM:618665
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Prominent nasal bridge, Intestin... ORPHA:2712
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Limitation of joint mobility OMIM:619598
Wolcott-Rallison Syndrome
Atrial septal defect, Renal insufficiency, Double outlet right ventricle, Chronic kidney disease ORPHA:1667
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Hypospadias, Conical tooth, Cleft upper lip,... OMIM:106260
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Geroderma Osteodysplastica
Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal form of the vertebral... ORPHA:2078
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Anal stenosis, Depressed nasal bridge, Anteverted nares, Ureteral hypoplasi... OMIM:614080
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Hypospadias, Diastema, Long philtrum, Short nose OMIM:300581
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid process, Kyphosis,... OMIM:607326
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, High, narrow pa... OMIM:619472
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Short toe, Wide nasal bridge, Cleft palate, Short foot, Narrow mo... OMIM:614078
Kabuki Syndrome 2
Natal tooth, Broad nasal tip, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, Dep... OMIM:300867
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Long philtrum, Short nose, Bro... OMIM:618577
Cardiac-Urogenital Syndrome
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... OMIM:618280
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Pulmonary hypoplasia, Neonatal ... OMIM:269860
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose, Abnormal palate morphology, Long philtrum ORPHA:1389
Keutel Syndrome
Wide nose, Ventricular septal defect, Depressed nasal bridge, Underdeveloped nasal alae, Pulmonar... ORPHA:85202
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra... OMIM:613686
Acrocephalopolydactyly
Limb undergrowth, Short nose, Depressed nasal ridge, Hepatosplenomegaly ORPHA:221054
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Choanal atresia, Secundum atrial septal defect, Sho... OMIM:612562
Trisomy 17P
Hypoplasia of penis, Prominent nose, Micrognathia, Orofacial cleft, High palate, Thick nasal alae... ORPHA:261290
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... OMIM:249270
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Mitral valve prolapse, High palate, Narrow mouth, Short nose, Patent foramen ova... OMIM:615539
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti... ORPHA:93352
Pelger-Huet Anomaly
Ventricular septal defect, Depressed nasal bridge, Abnormality of neutrophils, Abnormality of the... OMIM:169400
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... ORPHA:485
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Osteoporosis ORPHA:71267
Hypoglossia With Situs Inversus
Micrognathia, Situs inversus totalis, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mout... OMIM:612776
Holoprosencephaly 13, X-Linked
Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palat... OMIM:301043
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Kagami-Ogata Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of ... OMIM:608149
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T... ORPHA:2332
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Flat acetabular roof, Irregular vertebral endplates, Platyspondyly, Delayed... OMIM:609616
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Platyspondyly, Delayed ossificati... ORPHA:93346
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Platyspondyly, Joint hyperflexibility, Genu valgum ORPHA:250984
Joubert Syndrome 18
Ventricular septal defect, Renal cyst, Cleft palate, Horseshoe kidney, Lobulated tongue, Retrogna... OMIM:614815
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Cutis ma... ORPHA:91387
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Rhizomelia, Micrognathia, Wide nasal bridge, Downturned corners of mou... ORPHA:93267
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Wide mouth, Short nose, Smo... OMIM:615419
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter,... OMIM:615398
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Cle... ORPHA:52055
Pseudoachondroplasia
Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Ulnar deviation of th... OMIM:177170
Alg3-Cdg
Abnormality of the nose, Abnormality of the endocrine system, Coarctation of the descending aorti... ORPHA:79321
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakness of long finger extens... ORPHA:98913
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Diabetes insipidus, Thick lower lip vermilion, Wide nasal bridge, Wide mouth, Nephrocalcinosis, A... OMIM:611087
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Wide nose, Wide nasal bridge, Atrial septal defect, Hypoplastic spleen, Patent... ORPHA:89844
Contractures-Developmental Delay-Pierre Robin Syndrome
Hypospadias, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Short thumb, Cleft pal... ORPHA:436003
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... OMIM:239300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Kyphoscoliosis, Hip subluxation, Kyphosis, Delayed epiphyseal ossification, General... ORPHA:93360
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Macroorchidism, Short nose, O... OMIM:300143
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Hypospadias, Underdeveloped nasal alae, Carious teeth, Micrognathia, Cryptorchi... OMIM:613026
Feingold Syndrome Type 1
Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Micrognathia, Short middle phalanx of t... ORPHA:391641
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Lambert Syndrome
Wide mouth, Malar flattening, Ventricular septal defect, Hypospadias ORPHA:1296
Liposarcoma
Varicose veins, Abnormality of the kidney ORPHA:69078
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Cat Eye Syndrome
Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total anomal... OMIM:115470
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Unilateral renal agenesis, Broad nasal tip, Precocious puberty, Crypto... ORPHA:3306
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognat... OMIM:616367
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency,... OMIM:614701
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology OMIM:613390
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Long peni... ORPHA:1988
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis ORPHA:377
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Abnor... OMIM:618571
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Cleft soft p... OMIM:616331
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
Agnathia-Otocephaly Complex
Wide nose, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft p... OMIM:202650
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Ventricular septal defect, Thyroid lymphangiectasia, Micrognathia, Panc... OMIM:235255
Non-Distal Duplication 13Q
Abnormality of the dentition, Micrognathia, Cryptorchidism, Thin vermilion border, High palate, E... ORPHA:1702
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Cardiomegaly, Deep philtrum, Sho... OMIM:613320
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Abnormal acetabulum morphology, Limb joint contract... ORPHA:93314
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Cryptorchidism, Patent duct... OMIM:300963
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis ORPHA:2901
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Plat... OMIM:602557
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... ORPHA:2473
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Micrognathia, Minimal change... OMIM:618348
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... OMIM:615716
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Pa... OMIM:617159
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Wide nasal bridge, Hypertrophi... OMIM:619383
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... OMIM:614069
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Ovoid vertebral bodies, Abnormality of the vertebral endplates, Limited elbow extension, Platyspo... ORPHA:1856
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Cryptorchidism, Bulbous nose, Patent d... OMIM:615009
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Deep philtrum, ... ORPHA:163956
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Malabsorption, Micr... ORPHA:1225
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Depressed nasal bridge,... OMIM:619720
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus... OMIM:600460
Lujo Hemorrhagic Fever
Shock, Excessive bleeding after a venipuncture, Myocarditis, Atelectasis, Hyperhidrosis, Subconju... ORPHA:319213
Tyshchenko Syndrome
Ventricular septal defect, Supernumerary nipple, High, narrow palate, Cryptorchidism, Narrow pala... OMIM:615102
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Choanal atresia, Hypospa... ORPHA:163979
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Anteverted nares, Bicuspid aortic va... OMIM:618027
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... OMIM:200990
Lambotte Syndrome
Retrognathia, Ventricular septal defect, Convex nasal ridge, Narrow mouth OMIM:245552
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Diabetes mellitus, Ventricular septal defect, Micrognathia, Narrow mout... OMIM:270450
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Pyelonephritis, Varicose veins, Nephritis, Renal dysplasia OMIM:314300
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Cryptorchidism, Deep philtrum, Patent ductus arteriosus, Short toe, Widely... ORPHA:404443
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1445
Noonan Syndrome 9
Hydroureter, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis OMIM:616559
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, Micrognathia, High palate, Short philtrum, Microdontia, Micropenis, Abnormality ... ORPHA:251028
Megalencephaly
Atrial septal defect, Macroorchidism, Long penis, Wide nasal bridge ORPHA:2477
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Ventricular septal defect, Depressed nasal bridge, Hypospadias, Cryptorchi... OMIM:619103
Mosaic Trisomy 16
Single coronary artery origin, Ventricular septal defect, Hypospadias, Maternal diabetes, Abnorma... ORPHA:1708
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Ex... ORPHA:261236
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micromeli... OMIM:618870
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Dental crowding, Prominent nasal bridge, Hypospadias, Long nose, Pierre-Robin s... OMIM:619184
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Cryptorchidism, Bulbous nose, Wide mouth, Macroglossia, Everted lower lip... OMIM:616789
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... ORPHA:884
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Short ... OMIM:235510
Immunodeficiency 9
Stomatitis, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Amelogenesis imperfecta OMIM:612782
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Micrognathia, Downturned corners of mouth, High palate, Atrial septal defe... OMIM:610759
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... ORPHA:93351
Stevenson-Carey Syndrome
Anteverted nares, Underdeveloped nasal alae, Pierre-Robin sequence, Downturned corners of mouth, ... OMIM:611961
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Abnormality of the knee, Fractures of the long bones, Delayed skeletal maturation, Os... ORPHA:319195
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... OMIM:601357
Acrodysostosis
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Antev... ORPHA:950
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of ao... OMIM:614857
Trigonocephaly 1
High, narrow palate, Long penis, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum OMIM:190440
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Non-... ORPHA:1335
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Ventricular septal defect, Anterior pituitary hypoplasia, Micrognathia, B... OMIM:613457
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Unilateral cryptorchidism, Cleft upper lip, Deep philtrum, Flared nostril... OMIM:206920
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Micrognathia, Malabsorptio... ORPHA:452
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck OMIM:118100
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylope... ORPHA:538
Zaki Syndrome
Wide nose, Anteverted nares, Micrognathia, Patent ductus arteriosus, Wide nasal bridge, Wide mout... OMIM:619648
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts... OMIM:267010
Giant Cell Arteritis
Pericarditis, Renal insufficiency, Vasculitis, Hematuria, Aortic dissection, Double outlet right ... ORPHA:397
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Patent foramen ovale OMIM:617182
Oligomeganephronia
Pulmonary venous occlusion, Congenital diaphragmatic hernia, Secundum atrial septal defect, Hyper... ORPHA:2260
Ogden Syndrome
Microretrognathia, Everted upper lip vermilion, Ventricular septal defect, Underdeveloped nasal a... ORPHA:276432
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Open bite, Short toe, Abnormalit... ORPHA:1327
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Panc... ORPHA:97289
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Decreased response to growth hormone stimulation test, Prominent nose, Dow... OMIM:601808
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly OMIM:601438
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Downturned corners of mouth, Thin vermilion bord... ORPHA:1895
Chops Syndrome
Anteverted nares, Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Crypt... OMIM:616368
Bamforth-Lazarus Syndrome
Choanal atresia, Thyroid agenesis, Cleft palate, Congenital hypothyroidism, Retrognathia ORPHA:1226
Miller-Dieker Syndrome
Nephropathy, Abnormal upper lip morphology, Short nose, Anteverted nares ORPHA:531
Zygomycosis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Hematemesis, Atelectasis, Myocarditis, Pneu... ORPHA:73263
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Short nose, Thic... OMIM:300558
Trisomy 12P
Supernumerary nipple, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth,... ORPHA:1699
Orofaciodigital Syndrome Xvii
Micropenis, Tetralogy of Fallot, Renal hypoplasia OMIM:617926
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, Short nose, High palate, Micrognathia OMIM:615042
Toriello-Carey Syndrome
Aganglionic megacolon, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coar... ORPHA:3338
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morp... ORPHA:99094
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Short philtrum, Widely spaced teeth, Cleft lip, Pulmonary artery stenosis, Acute lymphoblastic le... OMIM:280000
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Choanal atresia, Micrognathia, Ectopic kidney, Pate... OMIM:613309
Farber Disease
Skeletal muscle atrophy, CNS foam cells, Nodular pattern on pulmonary HRCT, Atelectasis, Recurren... ORPHA:333
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Short thumb, Bulbous nose, Pa... OMIM:244300
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Ventricular septal defect, Broad nasal tip, Hypoplasia of the max... ORPHA:79345
Harel-Yoon Syndrome
Mandibular prognathia, Hypertrophic cardiomyopathy, Short nose, Micrognathia OMIM:617183
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n... ORPHA:177907
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Hypospadias, M... OMIM:257300
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Long nose, Bulbous nose, Patent ductus arteriosus, High palate, Thick ... OMIM:620113
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Depressed nasal bridge, Anteverted na... OMIM:614613
Baker-Gordon Syndrome
Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum OMIM:618218
Donnai-Barrow Syndrome
Ventricular septal defect, Depressed nasal bridge, Intestinal malrotation, Proteinuria, Short nose ORPHA:2143
Coffin-Siris Syndrome
Papillary thyroid carcinoma, Atrial septal defect, Thick nasal alae, Depressed nasal bridge, Ante... ORPHA:1465
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Depressed nasal bridge, Dental crowding, Deep philtrum, Patent ductus arteriosus, Wide nasal brid... ORPHA:397709
Snijders Blok-Campeau Syndrome
Prominent nose, Wide nasal bridge, Perimembranous ventricular septal defect, High palate, Widely ... OMIM:618205
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr... OMIM:231070
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Short philtrum, Atrial septal de... OMIM:301039
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Thin upper lip vermilion, Wide nose, Peripheral pulmonary artery stenosis, Ventricular septal def... OMIM:617506
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Aminoaciduria, Thick vermilion border, Long philtrum ORPHA:833
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Micropen... OMIM:301040
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Cardiomyopathy, Short philtrum, Short nose, Open mouth OMIM:618437
Thanatophoric Dysplasia
Patent ductus arteriosus, Gray matter heterotopia, Pulmonary hypoplasia, Atrial septal defect, In... ORPHA:2655
Diamond-Blackfan Anemia 8
Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose,... OMIM:612563
Omodysplasia 1
Short humerus, Ventricular septal defect, Depressed nasal bridge, Rhizomelia, Micrognathia, Crypt... OMIM:258315
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, In... OMIM:244450
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Short metacarpal, Depressed nasal bridge, Abnorm... ORPHA:439822
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula OMIM:619239
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Micromelia, Micrognathia, Rhizomelia, Cryptorchidism, H... ORPHA:93329
Seckel Syndrome 5
11 pairs of ribs, Hypospadias, Prominent nasal bridge, Selective tooth agenesis, Micrognathia, Cr... OMIM:613823
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Spondylometaphyseal Dysplasia, Pagnamenta Type
Delayed skeletal maturation, Platyspondyly, Wormian bones, Thoracic kyphosis OMIM:619638
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Sweeney-Cox Syndrome
Choanal atresia, Broad nasal tip, Underdeveloped nasal alae, Micrognathia, Velopharyngeal insuffi... OMIM:617746
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Depressed nasal bridge, Hypogonadotropic hypogonadism, Mic... ORPHA:251066
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Hypospadias, Abnormality of the dentition, Patent ductus... ORPHA:65286
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Micrognath... OMIM:242860
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valv... OMIM:175050
Tarp Syndrome
Meckel diverticulum, Anteverted nares, Micrognathia, Hypoplasia of the radius, Subdural hemorrhag... OMIM:311900
Achondrogenesis Type 1A
Short palm, Anteverted nares, Micromelia, Micrognathia, Short foot, Long philtrum, Short nose ORPHA:93299
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Lymphatic Malformation 5
Hypoplasia of lymphatic vessels, Cleft palate OMIM:153200
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Epistaxis, Dental crowding, Broad nasal tip, Hypoplasia of the maxilla, H... ORPHA:293939
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ... OMIM:613443
Achondrogenesis
Anteverted nares, Micromelia, Micrognathia, Long philtrum, Short nose ORPHA:932
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... OMIM:615156
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... OMIM:616549
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Distal tibial bowing, Genu valgum, Irregular vertebral endplates, Platyspon... OMIM:156500
Oculodentodigital Dysplasia
Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Selective tooth agenesis, Underdevelop... OMIM:164200
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Bulbous nose, Patent ductus arteriosus, Wide nasal bridge, Short foot, Abnormal c... ORPHA:250989
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Bulbous nose, Patent duct... ORPHA:2328
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... OMIM:614207
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... OMIM:608670
Bone Dysplasia, Lethal Holmgren Type
Anteverted nares, Rhizomelia, Micromelia, Patent ductus arteriosus, Depressed nasal ridge, Short ... ORPHA:1842
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Dental crowding, Fusiform ... OMIM:617168
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Desmosterolosis
Depressed nasal bridge, Intestinal malrotation, Micromelia, Abnormality of the nose, Micrognathia... ORPHA:35107
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Sim... OMIM:616777
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Hypoplasia of the odontoid process, Genu valgum, Platyspondyly, Scoliosis, Delayed... OMIM:184250
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Atrial septal defect,... ORPHA:363705
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,... OMIM:619179
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Oligosacchariduria, Downtur... ORPHA:163649
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Prominent nasal bridge, Ectopic kidney, Cryptorchidism, Patent ductus ... ORPHA:1519
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose OMIM:618379
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection, Bicuspid aor... OMIM:619825
Achondrogenesis Type 1B
Anteverted nares, Micromelia, Micrognathia, Short foot, Long philtrum, Short nose ORPHA:93298
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Cryptorchidis... OMIM:218350
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Mitral valve prolapse, Aor... ORPHA:171881
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, Sh... OMIM:620250
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, High palate, Atrial septal defect, Patent foramen ovale, Prominent pa... ORPHA:280633
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Decreased response to growth... OMIM:615866
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... ORPHA:364577
Opitz Gbbb Syndrome
Micrognathia, High palate, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Enl... ORPHA:2745
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Ventricular septal defect, Cleft upper lip, Hypoplasia of the maxil... OMIM:164210
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Depressed nasal bridge, Hypogonadotropic hypogonadism, Esophageal atre... OMIM:301030
Trisomy 13
Median cleft lip, Ventricular septal defect, Displacement of the urethral meatus, Abnormality of ... ORPHA:3378
Faciocardiorenal Syndrome
Underdeveloped nasal alae, Narrow mouth, Wide nasal bridge, Cleft palate, Horseshoe kidney, Hypod... ORPHA:1973
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Ollier Disease
Platyspondyly, Bone pain, Osteolysis, Joint stiffness ORPHA:296
Trisomy 1Q
Microretrognathia, Wide nose, Multicystic kidney dysplasia, Ventricular septal defect, Depressed ... ORPHA:261344
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum... ORPHA:314655
Pseudo-Torch Syndrome 1
Microretrognathia, Renal insufficiency, Anteverted nares, Cleft lip, Patent ductus arteriosus, Sp... OMIM:251290
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Distal ileal atr... OMIM:267000
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham... OMIM:174300
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Atrial septal defect, Patent ductus arteriosus, Abnormality of n... ORPHA:93274
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Hypospadias, Abnormal dental enamel morphology, Choanal atresia,... ORPHA:1896
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Diastema, Cryptorchid... ORPHA:329224
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dela... ORPHA:819
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Cleft p... OMIM:602418
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Cryptorchidism, 3-Methylglutaconic aciduria, Delayed puberty... ORPHA:496790
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspondyly, Pear-s... OMIM:602111
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Ventr... OMIM:619312
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Wide nose, Eosinophilia, Abnormality of the dentition, Micrognathia, High palate, Pulmonic stenos... OMIM:618282
Filippi Syndrome
Wide nose, Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Underdevelope... ORPHA:3255
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, Anteverted nares, High, narrow palate, Patent ductus arteriosus, Dyspla... OMIM:612863
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Depressed nasal bridge, Antev... OMIM:614105
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Wormian bones, Joint hypermobility OMIM:619131
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Wide nose, Exaggerated cupid's bow, Broad nasal tip, Micrognathia, Cryp... OMIM:605130
Distal Deletion 10Q
Smooth philtrum, Thin upper lip vermilion, Prominent nasal bridge, Prominent nose, Micrognathia, ... ORPHA:96148
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Mandibuloacral Dysplasia With Type B Lipodystrophy
Prominent superficial veins, Dental crowding, Narrow nasal ridge, Micrognathia, Insulin-resistant... OMIM:608612
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Hypopituitarism, Depressed nasal bridge, Anteverted ... OMIM:613038
Aarskog-Scott Syndrome
Decreased serum testosterone concentration, Anteverted nares, Elevated circulating luteinizing ho... OMIM:305400
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Micrognathia, Hypoplasia ... ORPHA:560
Carpenter Syndrome 1
Hydroureter, Depressed nasal bridge, Ventricular septal defect, Persistence of primary teeth, Mic... OMIM:201000
Proteus Syndrome
Venous malformation OMIM:176920
Varicose Veins
Varicose veins OMIM:192200
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Limb hypertonia OMIM:301058
Mucopolysaccharidosis, Type Iva
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy... OMIM:253000
Otopalatodigital Syndrome Type 2
Short palm, Abnormal heart valve morphology, Depressed nasal bridge, Short hallux, Micrognathia, ... ORPHA:90652
Fg Syndrome Type 1
Dental crowding, Prominent nose, Micrognathia, Fused teeth, High palate, Atrial septal defect, Hy... ORPHA:93932
Congenital Tracheal Stenosis
Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypopl... ORPHA:141127
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Abnormal vertebral ... ORPHA:915
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Neurogenic bladder, Protruding tongue, Secundum atrial septal defect, Micrognathia, Sp... OMIM:608779
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Micrognathia, Recurrent upper respiratory tract infections, Vesicouret... ORPHA:3078
Fibrochondrogenesis 1
Short palm, Posterior vertebral hypoplasia, Hypoplastic scapulae, Depressed nasal bridge, Antever... OMIM:228520
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Ventricular septal ... OMIM:609942
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Gray matter heterot... OMIM:617397
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Renal cyst, Horseshoe kidney ORPHA:166035
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Prominent nasal bridge, Supernumerary nipple, Secundum atrial septal defect, Cryptor... OMIM:618109
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri... ORPHA:2831
Tetraploidy
Convex nasal ridge, Micrognathia, Cleft palate, Aplasia/Hypoplasia of the thymus, Short philtrum,... ORPHA:3305
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... OMIM:616145
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the gal... ORPHA:2255
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Dilation of Virchow-Robin spa... OMIM:300998
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Tetralogy of Fallot OMIM:250620
Opitz Gbbb Syndrome
Thin upper lip vermilion, Abnormal nasopharynx morphology, Ventricular septal defect, Anteverted ... OMIM:300000
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Cryptorchidism, Bulbous nose, Long philtrum ORPHA:466926
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Platyspondyly, Flexion contracture ORPHA:157965
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Ventricular septal defect, Depressed nasal bridge, Proteinuria, Micrognathia, Hematu... OMIM:616901
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Depressed nasal bridge, Choanal atresia, Abnormality of thyroid physiology, Prominent nose, Abnor... OMIM:300968
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Hyposegmentation of... OMIM:620075
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Wide... OMIM:617452
Lateral Meningocele Syndrome
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Micrognath... OMIM:130720
Bartsocas-Papas Syndrome
Median cleft lip, Underdeveloped nasal alae, Micrognathia, Aplasia/Hypoplasia of the distal phala... ORPHA:1234
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections, Vascular dilatation ORPHA:2314
Toluene Embryopathy
Micrognathia, Cryptorchidism, Thin vermilion border, Hypoplasia of the zygomatic bone, Short nose... ORPHA:1920
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs inversus totalis, St... OMIM:613095
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Abnormality of the philtrum, Non-midline cleft lip, Abnormality of the... ORPHA:1770
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Hypos... OMIM:617751
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid hypoplasia, Ventricular septal defect, Prominent nose, Long nose, Mic... ORPHA:3047
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Glandula... ORPHA:1358
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Smooth philtrum OMIM:614526
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Repeated pneumothoraces, Atel... ORPHA:536467
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... ORPHA:94068
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... ORPHA:2521
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Dental crowding, C... OMIM:612582
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple,... ORPHA:457279
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:609654
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Micrognathia, High, narrow palate, Facial hyperostosis, Submucous clef... ORPHA:2780
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... OMIM:607598
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Patent ductus arteriosus, A... OMIM:602398
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Wide nose, Diabetes mellitus, Anteverted nares, Micrognathia, Hypoplasi... ORPHA:391408
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Micropenis, Dextrocardia, Coarctation of aorta OMIM:618929
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Depressed nasal bridge, Anteverted nares, Aplastic clavicle, Protr... ORPHA:50945
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Underdeveloped nasal alae, Prominent nose, Micromelia, Pat... ORPHA:2637
Serkal Syndrome
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Malrotation of small bowel, Or... ORPHA:139466
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Al Kaissi Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Macrodontia, Broad nasal tip, High, narrow pala... OMIM:617694
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Short neck, Patent ductus arte... OMIM:121050
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Depressed nasal bridge, Leukemia, Smooth philtrum OMIM:602501
Macrocephaly/Autism Syndrome
Dilation of Virchow-Robin spaces, Depressed nasal bridge, Penile freckling, Splenomegaly, Hydroce... OMIM:605309
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High p... ORPHA:124
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Underdeveloped nasal alae, Prominent nose, ... ORPHA:447980
Axenfeld-Rieger Syndrome, Type 3
Patent ductus arteriosus, Concave nasal ridge, Hypodontia, Atrial septal defect, Microdontia, Mal... OMIM:602482
Jansen-De Vries Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Sma... OMIM:617450
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Prominent ... OMIM:619951
Diamond-Blackfan Anemia 1
Micrognathia, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High pal... OMIM:105650
Mosaic Trisomy 1
Microretrognathia, Ventricular septal defect, Depressed nasal bridge, Thick lower lip vermilion, ... ORPHA:1692
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upp... OMIM:614294
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Prominent nose, Micrognathia, Cleft lip, Bulbou... OMIM:301022
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation ORPHA:75508
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Con... OMIM:170100
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Micrognat... OMIM:609192
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Cleft soft palate,... OMIM:615582
Alagille Syndrome
Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Long nose, Cryptorchidism, Abnor... ORPHA:52
Cerebrocostomandibular Syndrome
Micrognathia, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, High palate, Atri... OMIM:117650
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Foam cells, Cyanosis ORPHA:747
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Atelectasis, Myocarditis, Large vessel vasculitis,... ORPHA:728
Odontochondrodysplasia 1
Biconvex vertebral bodies, Genu recurvatum, Osteoporosis, Flat acetabular roof, Coronal cleft ver... OMIM:184260
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Micrognathia ORPHA:1514
Cantu Syndrome
Ovoid vertebral bodies, Short neck, Delayed skeletal maturation, Cuboid-shaped vertebral bodies, ... OMIM:239850
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Bilateral cryptorchidism, Pat... OMIM:300472
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Absent thumb, Esophag... OMIM:300514
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Leukocytosis,... ORPHA:2331
Enlarged Parietal Foramina
Cleft lip, Abnormal cerebral vein morphology, Cleft palate, Venous malformation ORPHA:60015
Thoracoabdominal Syndrome
Renal agenesis, Hypospadias, Patent ductus arteriosus, Transposition of the great arteries, Ectop... OMIM:313850
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Joint stiffness, Platyspondyly, Scoliosis, Severe platyspondyly OMIM:608940
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum, Short distal phala... OMIM:302950
X-Linked Mandibulofacial Dysostosis
Prominent nasal bridge, Micrognathia, Cryptorchidism, High palate, Hypoplasia of the zygomatic bo... ORPHA:1131
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Depressed nasal ... OMIM:612530
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Asplenia, Cleft lip, Cryptorchidism, Cleft palate, Pulmo... OMIM:619123
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Depressed nasal bridge, Penile freckling, Hurthle cell thyroid adenoma, Thy... ORPHA:210548
Acrofacial Dysostosis, Catania Type
Smooth philtrum, Microretrognathia, Hypospadias, Abnormality of the dentition, Carious teeth, Cry... ORPHA:1786
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pulmonic stenosis, Chylopericardium ORPHA:2414
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Micrognathia, Crypto... OMIM:605275
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Ventricular septal defect, Anteverted nares, Exaggerated cupid's bow... OMIM:615879
Czech Dysplasia
Flexion contracture, Limitation of joint mobility, Irregular vertebral endplates, Platyspondyly, ... OMIM:609162
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... OMIM:272460
Microphthalmia, Syndromic 2
Oligodontia, Fused teeth, Atrial septal defect, Hypothyroidism, Bifid uvula, Hypospadias, Persist... OMIM:300166
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuerm... OMIM:108300
Temtamy Preaxial Brachydactyly Syndrome
Short palm, Abnormal spaced incisors, Short hallux, Abnormality of the dentition, Abnormality of ... ORPHA:363417
Trisomy 8P
Short fourth metatarsal, Abnormal atrioventricular connection, Nephrocalcinosis, Aplasia/Hypoplas... ORPHA:264450
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Hypoplasia... ORPHA:1295
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Lumbar hyperlordosis, Congenital hip dislocation, Cervical kyphosis, Kyphoscolio... OMIM:255800
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Arterial Tortuosity Syndrome
Hiatus hernia, Myocarditis, Pyloric stenosis, Dilated cardiomyopathy, Pulmonary artery stenosis, ... ORPHA:3342
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Subm... OMIM:619314
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Cryptorchidism, Wide mou... OMIM:617635
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Cryptorchidism, Non-midline cleft lip, W... ORPHA:2075
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Micrognathia, Retrognathia, Short nose, Meckel diverticulum ORPHA:163961
Distal Deletion 6P
Wide nose, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Abnormality of th... ORPHA:96125
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Abnormality o... ORPHA:2772
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Depressed nasal bridge, Micrognathia, Small hand, Cleft palate, Tubulointerstitial nephritis, Enu... ORPHA:459061
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Lymphangiectasis, Renal cyst OMIM:602579
Alg9-Cdg
Villous atrophy, Micrognathia, Right ventricular dilatation, Abnormal left ventricular outflow tr... ORPHA:79328
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Ectopic kidney, Tracheoesophageal fistula, Orofacial cle... ORPHA:268249
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... OMIM:609008
Koolen-De Vries Syndrome
Bicuspid aortic valve, Prominent nasal bridge, Ventricular septal defect, Cleft upper lip, Pylori... OMIM:610443
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Thickened nuchal skin fold, Limb joint contracture, Ankle flexion contracture, Short neck, Knee f... ORPHA:284417
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Abnormal cardiomyocyte morph... ORPHA:565612
Bohring-Opitz Syndrome
Bilateral cleft palate, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Clef... OMIM:605039
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Ventricular septal defect, Broad nasal tip, Micrognathia, Pancreatic ly... ORPHA:1655
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow nasal bridge, 11 pairs of ribs, Ventricular septal defect, Depressed nasal bridge, Microgn... OMIM:620073
Chromosome 10Q26 Deletion Syndrome
Thin upper lip vermilion, Prominent nose, Micrognathia, Cryptorchidism, Patent ductus arteriosus,... OMIM:609625
Alazami Syndrome
Wide nose, Wide mouth, Short philtrum, Widely spaced teeth, Thick vermilion border, Atrial septal... ORPHA:319671
Sotos Syndrome
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Broad... OMIM:117550
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... OMIM:617021
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Diabetes mellitus, Micrognathia, Secundum atrial septal defect, Prominent nose, High palate, Hype... OMIM:620194
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Camptodactyly of finger, Kyphoscoliosis, Irregular vertebral endplates,... OMIM:612350
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Increased overbite, Micropenis OMIM:618504
Anauxetic Dysplasia 1
Joint laxity, Hip contracture, Lumbar hyperlordosis, Short neck, Limited elbow extension, Elbow f... OMIM:607095
Autosomal Recessive Spondylocostal Dysostosis
Intrauterine growth retardation, Congenital diaphragmatic hernia, Camptodactyly of finger, Anomal... ORPHA:2311
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Intrauterine ... OMIM:619909
Chromosome 16P13.3 Duplication Syndrome
Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antevert... OMIM:613458
Frontometaphyseal Dysplasia 1
Dislocated radial head, Limited elbow movement, Interphalangeal joint contracture of finger, Ankl... OMIM:305620
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Anteverted nares, Hypoplasia of teeth, Short nose, Retrognathia OMIM:234050
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Hypospadias, Cleft palat... OMIM:616449
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate, Adren... OMIM:611812
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur... OMIM:166220
Thakker-Donnai Syndrome
Ventricular septal defect, Anteverted nares, Bulbous nose, Tracheoesophageal fistula, Downturned ... ORPHA:1780
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion... OMIM:619854
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... OMIM:619895
Fraser Syndrome 2
Wide nose, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasal alae, Rectal a... OMIM:617666
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Platyspondyly OMIM:601356
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Depressed nasal ridge, Wide mouth, Short foot, Short philtrum, Short pa... ORPHA:163966
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Wide... ORPHA:453499
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tented upper lip vermilion, Patent ductus arteriosus after premature birth,... OMIM:618460
Down Syndrome
Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, O... ORPHA:870
Grange Syndrome
Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis OMIM:602531
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Nephrocalcinosis, High palate, ... ORPHA:769
Oculodentodigital Dysplasia
Narrow nasal bridge, Mandibular prognathia, Neurogenic bladder, Median cleft lip, Anteverted nare... ORPHA:2710
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Ventricular septal defect, Unilateral renal agenesis, Splenomegaly, Patent ductus a... OMIM:614576
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Thin upper lip vermilion, Abnormal heart valve morphology, Cleft lip, Cryptorc... ORPHA:2953
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Ventricular septal defect, Secundum atrial septal defect, Dental malocc... OMIM:249420
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Tented upper lip vermilion, Nephrocalcinosis, Wide mouth, Atrial septal defect, Open mouth, Diabe... ORPHA:500533
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, In... ORPHA:99776
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Intrauterine growth retar... OMIM:620327
Joubert Syndrome 3
Anteverted nares, Wide nasal bridge, Stage 5 chronic kidney disease, Nephronophthisis, Atrial sep... OMIM:608629
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
Varicose veins, Venous malformation OMIM:613089
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Pulmonary f... OMIM:618278
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Thin upper lip vermilion, Wide nose, Ventricular septal defect, Prominent nasal bridge, Cryptorch... ORPHA:505237
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomegaly, Micrognath... OMIM:614921
Ververi-Brady Syndrome
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ... OMIM:617982
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum... ORPHA:1071
King-Denborough Syndrome
Ventricular septal defect, Broad nasal tip, Bilateral cryptorchidism, Cryptorchidism, Deep philtr... OMIM:619542
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Submucous cleft hard palate, Vesicoureteral reflux, Renal hypoplasia, Hypo... OMIM:617660
Au-Kline Syndrome
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Cryptorchid... OMIM:616580
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Bilateral cryptorchidism... OMIM:619859
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect OMIM:617364
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Thin upper lip vermilion, Prominent nose, Micrognathia, Bulbous nose, Depr... OMIM:156200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Short nose, Depressed nasal bridge, Hypospadias OMIM:616910
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Johnson Neuroectodermal Syndrome
Choanal atresia, Carious teeth, Bulbous nose, Anosmia, Cleft palate, Everted lower lip vermilion,... ORPHA:2316
Chime Syndrome
Short palm, Ventricular septal defect, Abnormal dental morphology, Aplastic clavicle, Abnormality... ORPHA:3474
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Ovoid vertebral bodies, Flat acetabular roof, Platyspondyly, Limited elbow ... OMIM:608728
Pfeiffer Syndrome
Mandibular prognathia, Shortening of all middle phalanges of the fingers, Depressed nasal bridge,... OMIM:101600
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Crossed fused renal ectopia, Abnormal dental enamel morphology, Micromeli... ORPHA:3258
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Short nose, Short distal... ORPHA:1914
Unilateral Polymicrogyria
Epistaxis, Pulmonary arteriovenous malformation, Perisylvian polymicrogyria, Abnormal heart morph... ORPHA:268943
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Rhizomelia, Short proximal phalanx of finger, O... OMIM:616638
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitra... OMIM:616564
Renal And Mullerian Duct Hypoplasia
Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele... OMIM:266810
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Hypospadias, Abnormal pulmonary valve morphology, Abnormal local... ORPHA:500
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Abnormality of the dentition, Broad nasal tip, Micrognathia, ... OMIM:617557
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, E... ORPHA:464738
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Anteverted nares, Micrognathia, Cryptorchidism, Dental malocclusion, W... ORPHA:444072
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Downturned corners of mouth, Hypoplasia of the thymu... OMIM:264090
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Micrognath... OMIM:300855
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Cryptorchid... ORPHA:2083
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... ORPHA:436252
Kury-Isidor Syndrome
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, High palate, Widely spac... OMIM:619762
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Macroglo... ORPHA:261144
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Micrognathia... OMIM:608013
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Hypospadias, Decreased response to growth hormone stimulation test, Adren... OMIM:614732
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibility, Platys... ORPHA:85194
Ohdo Syndrome, Sbbys Variant
Thin upper lip vermilion, Depressed nasal bridge, Hypospadias, Micrognathia, Cryptorchidism, Bulb... OMIM:603736
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Generalized jo... OMIM:618000
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Jacobsen Syndrome
Broad columella, Abnormality of the anus, Multicystic kidney dysplasia, Anteverted nares, Cryptor... ORPHA:2308
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Tarp Syndrome
Extramedullary hematopoiesis, Anteverted nares, Micrognathia, Cryptorchidism, Pierre-Robin sequen... ORPHA:2886
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Long philtrum, P... OMIM:135500
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Short ribs, Malar flattening, Short nose OMIM:614524
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Splenomegaly, Chronic kidney disease, Orofacial cleft, Short ribs, Nep... OMIM:615630
Genitopatellar Syndrome
Delayed eruption of teeth, Short palm, Wide nose, Multicystic kidney dysplasia, Prominent nasal b... ORPHA:85201
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Micrognathia, Downturned corners of mouth, Choanal stenosis, Atrial septal defect, Hypothyroidism... OMIM:620186
Noonan Syndrome 5
Mandibular prognathia, Depressed nasal bridge, Cryptorchidism, Wide mouth, Thick vermilion border... OMIM:611553
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Hypospadias, Micrognathia, Cryptorchidism, Patent ductus art... ORPHA:2282
Noonan Syndrome 4
Ureteral duplication, Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Dental m... OMIM:610733
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Congen... ORPHA:2519
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose OMIM:618774
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Ventricular septal defect, Hydronephrosis, Hypospadias OMIM:236680
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae OMIM:271520
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Renal cyst OMIM:611134
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... ORPHA:1791
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Abnormal nasal morpholo... ORPHA:245
Bardet-Biedl Syndrome 17
Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... OMIM:615994
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Micrognathia, Cryptorchidi... OMIM:247200
Cardiospondylocarpofacial Syndrome
Anteverted nares, Ventricular septal defect, Bulbous nose, Muscular ventricular septal defect, Dy... OMIM:157800
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Multiple bla... ORPHA:2728
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone m... OMIM:614856
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Short neck OMIM:618958
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Short palm, Ventricular septal defect, Anteverted nares, Hypospadias, Precoc... ORPHA:254346
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge ORPHA:2835
Joubert Syndrome 14
Tented upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Cleft palate, Rena... OMIM:614424
Lathosterolosis
Foam cells with lamellar inclusion bodies, Anteverted nares, Bilobate gallbladder, Increased mean... OMIM:607330
De Barsy Syndrome
Delayed eruption of teeth, Ventricular septal defect, Cryptorchidism, Small, conical teeth, Paten... ORPHA:2962
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Cardiomegaly, Prominent nose, High, narrow palate, Pineal cyst, Short philtrum, ... OMIM:300967
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Malar flattening, Short nos... OMIM:616420
Mucopolysaccharidosis Type 4
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Spinal canal... ORPHA:582
Short Stature-Micrognathia Syndrome
Rhizomelia, Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft palate, High palate, M... OMIM:617164
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Choanal stenosis, High palate, Depressed nasal bridge, Anteverted ... OMIM:615485
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage ORPHA:624
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Underdeveloped nasal alae, Micrognathia, Mitral valve prolapse, Wide mouth, High palate, Short ph... OMIM:300986
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Open bite, Micrognathia, ... OMIM:115150
Larsen Syndrome
Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Dislocated wrist, Accessory... OMIM:150250
Desbuquois Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Small hand ORPHA:1425
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy ORPHA:444013
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pulmonary artery sli... OMIM:235730
Waardenburg Syndrome Type 1
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underd... ORPHA:894
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose... OMIM:125310
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... ORPHA:26793
Donnai-Barrow Syndrome
Ventricular septal defect, Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Prote... OMIM:222448
Dysosteosclerosis
Increased bone mineral density, Recurrent fractures, Hypoplastic vertebral bodies, Irregular vert... ORPHA:1782
Ruvalcaba Syndrome
Short metacarpal, Dental crowding, Micromelia, Cryptorchidism, Delayed puberty, Small hand, Hemat... ORPHA:3121
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Decreased response to growth hormone stimulation test, Absent thumb, S... OMIM:609053
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Patent ductus arteriosus, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis... OMIM:230600
Oculoauriculovertebral Spectrum With Radial Defects
Vesicoureteral reflux, Atrioventricular canal defect, Distal urethral duplication, Renal hypoplas... ORPHA:2549
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Anteverted nares, Decreased response to growth hormone stimulation tes... OMIM:602782
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Flexion contracture, Patent foramen ovale, Camptodactyly ORPHA:88630
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Underdeveloped nasal alae, Broad nasal tip, High, n... OMIM:272950
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bridge, Long ph... OMIM:616430
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Thin vermilion border, S... OMIM:610015
5Q14.3 Microdeletion Syndrome
Short nose, Anteverted nares, Short philtrum, Open mouth ORPHA:228384
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Neoplasm of the adrenal cortex, Wide nose, Anteverted nares, Abnormal large... ORPHA:109
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Hypospadias, Supernumerary nipple, Underdeveloped nasal alae, Cryptorc... ORPHA:217346
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Decreased response to growth hormone stimulation test, Thin vermilion border, H... OMIM:601853
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Kniest Dysplasia
Hip contracture, Enlarged joints, Short neck, Delayed epiphyseal ossification, Limitation of join... OMIM:156550
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella... ORPHA:3320
17Q12 Microduplication Syndrome
Atrial septal defect, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly ORPHA:391428
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... ORPHA:402075
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Anteverted nares, Decreased response to growth hormone stimulation test, Unilateral re... OMIM:213980
Raine Syndrome
Mandibular prognathia, Natal tooth, Hydroureter, Depressed nasal bridge, Choanal atresia, Microme... OMIM:259775
Wiskott-Aldrich Syndrome
Hemolytic anemia, Sinusitis, Abnormal eosinophil morphology, Epistaxis, Microcytic anemia, Thromb... ORPHA:906
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Ureteral... OMIM:208540
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation ORPHA:137608
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Dilation of Virchow-Robin spaces, Unilateral renal ag... OMIM:617190
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Lowry-Wood Syndrome
Joint stiffness, Elbow dislocation, Delayed skeletal maturation, Platyspondyly, Patellar dislocat... ORPHA:1824
Caudal Regression Syndrome
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnor... ORPHA:3027
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Congenital Fibrinogen Deficiency
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v... ORPHA:335
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... OMIM:614868
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Micrognathia, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal ... OMIM:208085
Dermotrichic Syndrome
Aganglionic megacolon, Depressed nasal bridge, Aminoaciduria, Short nose, Anemia ORPHA:99688
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Desbuquois Dysplasia 1
Joint dislocation, Joint laxity, Phalangeal dislocation, Hyperlordosis, Short neck, Kyphosis, Ost... OMIM:251450
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Choanal atresia, Ventricular septal ... OMIM:301044
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
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Vesicoureteral reflux, Short nose, ... OMIM:618828
Zellweger Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Depressed nasal bridge, Hypospadias, Mal... ORPHA:912
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia OMIM:617260
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Tented upper lip vermilion, Short philtrum ORPHA:85277
Fetal Hydantoin Syndrome
Cryptorchidism, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Sho... ORPHA:1912
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Thin upper lip vermilion, Wide nose, Peripheral pulmonary artery stenosis, Bicuspid aortic valve,... OMIM:300707
Tetrasomy 18P
Narrow mouth, Short nose, Thin vermilion border, Long philtrum ORPHA:3307
Noonan Syndrome 13
Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Mitral valve prolapse, Wide mo... OMIM:619087
20Q11.2 Microduplication Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Tented phil... ORPHA:363659
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Anteverted nares, Open bite, Venous insufficiency, Abn... ORPHA:2969
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Enlarged joints, Short neck, Osteoarthritis,... ORPHA:1427
Okamoto Syndrome
Tented upper lip vermilion, Urinary incontinence, Primum atrial septal defect, Downturned corners... ORPHA:2729
Aase-Smith Syndrome I
Open mouth, Ventricular septal defect, Cleft palate OMIM:147800
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... OMIM:600376
Zttk Syndrome
Hypoplasia of the maxilla, Downturned corners of mouth, High palate, Short philtrum, Atrial septa... OMIM:617140
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, Reduced bone mi... OMIM:616507
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Mucopolysaccharidosis, Type X
Hyperlordosis, Genu valgum, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, I... OMIM:619698
Smith-Mccort Dysplasia 2
Enlarged interphalangeal joints, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, F... OMIM:615222
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... ORPHA:444077
Poikiloderma With Neutropenia
Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Micrognathia, Splenomegaly, Neu... OMIM:604173
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Agyria, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis... OMIM:253800
Tetrasomy 9P
Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Micropen... ORPHA:3310
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Prominent ... ORPHA:96191
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular... OMIM:614816
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Short palm, Micropen... OMIM:268310
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Peho Syndrome
Short nose, Tented upper lip vermilion, Retrognathia, Open mouth OMIM:260565
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Ramos-Arroyo Syndrome
Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Carious teeth, Patent ductus art... ORPHA:1051
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Osteosclerosis of ribs, Abnor... ORPHA:174
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Renal ... OMIM:614922
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Esophageal atresia... ORPHA:77298
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, Absent nasal bridg... ORPHA:261211
Warsaw Breakage Syndrome
Wide mouth, High palate, Tetralogy of Fallot, Ventricular septal defect OMIM:613398
White-Sutton Syndrome
Mandibular prognathia, Depressed nasal bridge, Broad nasal tip, Micrognathia, Patent ductus arter... OMIM:616364
Micro Syndrome
Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, High pala... ORPHA:2510
Joubert Syndrome 20
Renal cyst OMIM:614970
Houge-Janssens Syndrome 3
Broad nasal tip, Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal d... OMIM:618354
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Ventricular septal defect, Aortopulmonary collateral arteries, Micrognathia, Cr... OMIM:620025
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nip... ORPHA:1812
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Depressed nasal bridge, Transient ischemic attack, Supernumerar... OMIM:600268
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Bilateral cryptorchidism, Neph... OMIM:617402
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Short lingual frenul... OMIM:617360
17Q23.1Q23.2 Microdeletion Syndrome
Depressed nasal bridge, Bulbous nose, Patent ductus arteriosus, Patellar hypoplasia, Widely space... ORPHA:261279
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Anteverted nares, Micrognathia, Cryptorchidism, Thrombocytopenia, Dila... ORPHA:261250
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Macrodontia, Protruding... OMIM:212066
Mucopolysaccharidosis-Plus Syndrome
Wide nose, Proteinuria, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Wide nasal brid... OMIM:617303
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Carotid artery dissection, Progeroid facial appearance, Congenital diaph... OMIM:208050
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Abnormal cerebral vascular morphology, Nephroblastoma, Ovarian serous... ORPHA:276280
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Bicuspid aortic valve, Hypoplastic left heart, Long philtrum, Atrial septa... OMIM:619721
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi... OMIM:617865
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect, Abnormal renal morphology OMIM:613792
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Pericardial effusion, Micropenis, High pa... OMIM:617822
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Short hallux, Small hand, Cleft ... ORPHA:93260
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Micrognathia, Short metatarsal, Patellar hypoplasia, Hand monodactyly, High palate, Atrial septal... OMIM:609945
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pu... ORPHA:99106
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Atrial septal defect, Bi... OMIM:300373
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hyperlordosis, Hypoplasia of the odontoid process, Irregular carpal bones, Osteoporosis, Hip disl... OMIM:226980
Glomuvenous Malformation
Abnormal renal morphology, Gastrointestinal arteriovenous malformation, Arteriovenous malformatio... ORPHA:83454
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Short hallux, Abnormality of ... OMIM:608156
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Pancytopenia, Stomatitis, Dextrocardia, Homocystinuria, Megaloblastic a... OMIM:277380
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Marshall-Smith Syndrome
Irregular dentition, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Choanal sten... OMIM:602535
Renpenning Syndrome 1
Mandibular prognathia, Micrognathia, High palate, Short philtrum, Atrial septal defect, Hypospadi... OMIM:309500
Trisomy 8Q
Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Wide nasal bridge, Clef... ORPHA:1752
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the knee, Kyphoscoliosis, Genu valgum, Platyspondyly, Abnormality of the vertebral... ORPHA:93316
Lymphatic Malformation 7
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Pulmon... OMIM:617300
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Micrognathia, Atrial septal defect, Phocomelia, Atrioventricular canal defe... OMIM:274000
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Atrial septal defect, M... ORPHA:289
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ... OMIM:617107
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Malar flattening, Micrognathia, Absent frontal sinuses,... OMIM:154780
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Lumbar hyperlordosis, Enlarged joints, Flexion contracture, Premature osteoarthritis, Coronal cle... OMIM:215150
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Cervical myelopathy, Limb muscle weakness OMIM:207950
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Tented upper lip vermilion, Micrognathia, High, narrow palate, Renal cyst, Downturned corners of ... ORPHA:369837
Thymic Carcinoma
Abnormal vena cava morphology ORPHA:99868
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Flexion contracture, Intrauterine growth retardation, Polymicrogyria, ... ORPHA:79243
Trisomy 18
Microretrognathia, Ventricular septal defect, Choanal atresia, Esophageal atresia, Non-midline cl... ORPHA:3380
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Downturned corners of mouth, Thin vermilion border, Short philtrum, Hypogona... ORPHA:2983
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, Nephrocalcinosis, Widel... ORPHA:79500
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral segmentation defec... ORPHA:96169
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Intraventricular hemorrhage, Wid... OMIM:613603
Jacobsen Syndrome
U-Shaped upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Anteverted nares... OMIM:147791
Ehlers-Danlos Syndrome, Classic Type, 1
Poor wound healing, Mitral valve prolapse, Aortic root aneurysm, Umbilical hernia, Bruising susce... OMIM:130000
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, High, narrow palate, Atrial sep... ORPHA:373
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Partial absence... ORPHA:955
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Short nose, High palate, Wide nasal bridge OMIM:218000
Vici Syndrome
Micrognathia, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, Neutropenia... OMIM:242840
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... OMIM:612528
Developmental And Epileptic Encephalopathy 18
Atrial septal defect OMIM:615476
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Depressed nasal bridge, Dental ... OMIM:300990
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Short hallux, Absent frontal sinuses, Wide nasal bridge, Cleft palate, ... OMIM:311300
Trisomy 10P
Absent gallbladder, Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Micrognath... ORPHA:171929
Ctcf-Related Neurodevelopmental Disorder
Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Abnormality of the dentition, Phimos... ORPHA:363611
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Atrial septal defect, Patent ductus arteriosus, Gray matter hete... ORPHA:1860
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Cleft... OMIM:154400
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... ORPHA:70
White Forelock With Malformations
Atrial septal defect, Deep philtrum, Abnormal palate morphology ORPHA:2475
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal cranio... OMIM:616294
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tented upper lip vermilion, Depressed nasal bridge, Short metacarpal, Ab... ORPHA:457395
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... ORPHA:96334
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short metacarpal, Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Renal cyst,... OMIM:250410
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Pulmonary arteriovenous fistulas, Telangiectasia, Hypoxemia,... ORPHA:2038
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Hypospadias, Cryptorc... ORPHA:494344
Costello Syndrome
Ventricular septal defect, Depressed nasal bridge, Abnormal dental enamel morphology, Abnormality... ORPHA:3071
Diaphanospondylodysostosis
Depressed nasal bridge, Micrognathia, Missing ribs, Depressed nasal ridge, Cleft palate, Horsesho... OMIM:608022
7Q31 Microdeletion Syndrome
Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Patent ductus arteriosus after birth... ORPHA:251061
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Patent ductus arteriosus, Enla... ORPHA:505248
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... OMIM:253010
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Stroke OMIM:615812
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent superficial veins, Prominent nasa... OMIM:601812
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Posterior wedging of vertebr... ORPHA:168549
Orofaciodigital Syndrome Type 2
Micrognathia, Central retinal vessel vascular tortuosity, High palate, Short tibia, Atrioventricu... ORPHA:2751
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Short nose, Retrognath... ORPHA:561
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom... OMIM:300912
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Recurrent fractures, Decreased calvarial ossification, Platyspondyly, Wormian bones, ... OMIM:616229
Boudin-Mortier Syndrome
Aortic root aneurysm, Mitral valve prolapse OMIM:619543
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Patent ductus a... OMIM:603467
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondy... OMIM:610915
Gm1 Gangliosidosis
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Spleno... ORPHA:354
Cooper-Jabs Syndrome
Ventricular septal defect, Anteverted nares, Missing ribs, Anteriorly placed anus, Malar flattening ORPHA:1488
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Trisomy 20P
Macroorchidism, Anteverted nares, Hypospadias, Abnormality of the dentition, Micrognathia, Crypto... ORPHA:261318
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Choanal stenosis, Vesicoureteral reflux, Atrial septal defect, H... OMIM:607323
Cornelia De Lange Syndrome 1
Micromelia, Micrognathia, Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of ... OMIM:122470
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Phelan-Mcdermid Syndrome
Ventricular septal defect, Micrognathia, Bulbous nose, Patent ductus arteriosus, Dental malocclus... OMIM:606232
Holoprosencephaly
Hypoplasia of penis, Abnormality of the spleen, Deep philtrum, Depressed nasal ridge, Panhypopitu... ORPHA:2162
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... OMIM:258900
Cohen Syndrome
Ventricular septal defect, Prominent nasal bridge, Aplasia/Hypoplasia of the tongue, Macrodontia,... ORPHA:193
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Unilateral cleft ... OMIM:610828
Holt-Oram Syndrome
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a... OMIM:142900
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar synostosis, Genu v... OMIM:171480
Peters Plus Syndrome
Ureteral duplication, Micromelia, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein... ORPHA:709
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep p... OMIM:619833
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Short hallux, Small hand, Cleft ... ORPHA:93259
Infantile Liver Failure Syndrome 3
Hypoplastic vertebral bodies, Beaking of vertebral bodies, Abnormal acetabulum morphology, Platys... OMIM:618641
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Renal cyst, Short palm, Atrial septal defect, Exaggerated median tongue fu... OMIM:312870
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Long nose, Downturned corners of mouth, High palate, At... OMIM:619522
Floating-Harbor Syndrome
Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners... OMIM:136140
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Depressed nasal bridge, Micromelia, Hypoplasia of the radius, Short ri... OMIM:617895
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Pursed lips, Dental crowding, Underdeveloped nasal alae, Whistling appeara... OMIM:193700
Geleophysic Dysplasia 2
Short palm, Thin upper lip vermilion, Mitral stenosis, Tricuspid stenosis, Mitral valve prolapse,... OMIM:614185
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... OMIM:618748
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... ORPHA:352665
Pterygium Colli, Isolated
Short nose OMIM:177990
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... OMIM:263200
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Short distal phalanx of toe, Abnormal mitral valve morphology, Prominent nose, Wide nasal bridge,... ORPHA:1292
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Downt... OMIM:618430
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Transient ischemic attack, Abnormal pericardium morphology, Cutis marmorata, Myocarditi... ORPHA:183
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Cleft upper lip, Micrognathia, Patent ductus arteriosus, Cleft palate,... OMIM:153400
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Micrognathia, Volvulus, Short nose OMIM:617802
Dyggve-Melchior-Clausen Disease
Short neck, Hypoplasia of the odontoid process, Abnormality of the vertebral endplates, Atlantoax... ORPHA:239
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Wide nose, Multicystic kidney dysplasia, Micrognathia, Depressed nasal ridg... ORPHA:1052
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Cleft palate, Hypoplasia of the zygomatic bone, Narrow mouth, ... ORPHA:83
Gapo Syndrome
Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Micrognathia, Retinal arteriolar... OMIM:230740
Apert Syndrome
Delayed eruption of teeth, Mandibular prognathia, Overriding aorta, Ventricular septal defect, De... OMIM:101200
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Facial diplegia, Left ventricular hypertrop... ORPHA:31150
X Small Rings
Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Upp... ORPHA:96201
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Short nose ORPHA:329178
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Decreased response to growth hormone stimulation test, Ascending aorta hypoplasi... OMIM:619503
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia, Venous malformation OMIM:612918
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Orofaciodigital Syndrome Vi
11 pairs of ribs, Short femur, Accessory oral frenulum, Broad nasal tip, Cleft upper lip, Hamarto... OMIM:277170
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Nephrolithias... ORPHA:369929
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Supernume... OMIM:311200
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Pel... OMIM:613001
Neurocardiofaciodigital Syndrome
Patent ductus arteriosus, Retrognathia, Vesicoureteral reflux, Double inlet left ventricle, Thin ... OMIM:619869
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Kyphoscoliosis, Hip dislocation, Advanced ossification of carpal bones,... OMIM:615349
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Cantú Syndrome
Ovoid vertebral bodies, Accelerated skeletal maturation, Short neck, Delayed skeletal maturation,... ORPHA:1517
Osteoglophonic Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate... OMIM:166250
Degcags Syndrome
Prominent nose, Micrognathia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Hig... OMIM:619488
Schneckenbecken Dysplasia
Ovoid vertebral bodies, Short neck, Advanced ossification of carpal bones, Flat acetabular roof, ... OMIM:269250
Lathosterolosis
Hypoplasia of penis, Anteverted nares, Micrognathia, Bulbous nose, Gingival overgrowth, Horseshoe... ORPHA:46059
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Micrognathia, Long nose, T lymphocytopenia, Short metacarpal, Depressed nasal bridge, Anteverted ... ORPHA:508533
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:612813
Anauxetic Dysplasia 3
Thoracolumbar kyphoscoliosis, Genu valgum, Platyspondyly, Beaking of vertebral bodies, Hip sublux... OMIM:618853
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... OMIM:142945
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Depressed nasal bridge, Anteverted nares, Dental crowding, Un... OMIM:619005
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morpho... ORPHA:1666
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly place... OMIM:612289
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Penile Agenesis
Urethral atresia, male, Ventricular septal defect, Depressed nasal bridge, Hydroureter, Rectal fi... ORPHA:49
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Micrognathia, Pyloric stenosis, Cleft palate, Abnorma... ORPHA:261197
Keutel Syndrome
Sinusitis, Ventricular septal defect, Depressed nasal bridge, Cartilaginous ossification of nose,... OMIM:245150
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Delayed skeletal maturation, P... OMIM:616723
3Q29 Microduplication Syndrome
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Wide nasal bridge, Cleft ... ORPHA:251038
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Micrognathia, Short philtrum, High palate, Atrial septal defect, Hypospad... ORPHA:96121
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Ragged-red muscle fibers,... ORPHA:17
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Cryptorchidism, Submuc... ORPHA:1340
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Premature graying o... ORPHA:363618
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Ring Chromosome 7 Syndrome
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Hypospadias, Situs inversus tota... ORPHA:1449
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Multic... OMIM:223800
Monosomy 22
Wide nose, Aplasia of the thymus, Hypochromic microcytic anemia, Micropenis, Hepatosplenomegaly, ... ORPHA:96123
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Patent ductus arteri... ORPHA:85276
Hardikar Syndrome
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Cleft soft ... OMIM:301068
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Wide nose, Ventricular septal defect, Unilateral renal agenesis, Micrognat... ORPHA:261337
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Smooth philtrum, Thin upper lip vermilion, Short metacarpal, Anteverted nare... OMIM:601358
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Micrognathia, Atrial septal defect, Agenesis of pinea... ORPHA:536471
Pallister-Hall Syndrome
Adrenal hypoplasia, Ectopic kidney, Depressed nasal ridge, Gonadotropin deficiency, Atrial septal... ORPHA:672
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, 11 pairs of ribs, Bicuspid aortic valve, Depressed nasal bridge, Rhizomelia, C... OMIM:245600
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Carotid artery tortuosity, Dental crowding, Hiatus hernia, Micrognath... OMIM:619329
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Abnormal heart morphology ORPHA:254534
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Recurrent upper r... OMIM:602450
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... OMIM:618775
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Dental crowding, Bulbous nose, Mitral valve prolapse, Aortic roo... ORPHA:230851
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Renal hypoplasia, Narrow mouth, Vesicoureteral reflux... OMIM:613735
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility... OMIM:259770
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Periventricular heterotopia, Kyphosis, Increased skull ossification, Cr... OMIM:618476
Distal Deletion 9P
Hypospadias, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, ... ORPHA:1642
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Depressed nasal ridge, Hypoplasia of the calcaneus, Short nose, Dis... OMIM:300863
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Kleefstra Syndrome 1
Natal tooth, Hypospadias, Protruding tongue, Persistence of primary teeth, Cryptorchidism, Conotr... OMIM:610253
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Small hand OMIM:618618
Floating-Harbor Syndrome
Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, ... ORPHA:2044
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, E... ORPHA:3107
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Delayed skeletal maturat... OMIM:271510
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Hypoplasia of the maxil... OMIM:609460
Meier-Gorlin Syndrome 6
Microretrognathia, Anteverted nares, Depressed nasal bridge, Decreased response to growth hormone... OMIM:616835
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Depressed nasal bridge, Micrognathi... OMIM:620005
Cranioectodermal Dysplasia 2
Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Mi... OMIM:613610
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Anteverted nares, Broad nasal tip, Carious teeth, Prominent veins on trunk, Prominent nasolabial ... ORPHA:357074
Hypophosphatasia, Infantile
Craniosynostosis, Vertebral clefting, Increased susceptibility to fractures, Platyspondyly, Decre... OMIM:241500
Warburg Micro Syndrome 3
Micrognathia, Narrow palate, Micropenis, Downturned corners of mouth, Short nose, Decreased testi... OMIM:614222
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi... OMIM:615873
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Anteverted nares, Abnormality of the dentition, Downturned corners of mouth, Dilatation of the ce... OMIM:612394
Hall-Riggs Syndrome
Delayed skeletal maturation, Platyspondyly, Scoliosis, Joint stiffness ORPHA:2107
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria ORPHA:445038
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, Micrognathia, Aplasia of the ulna, High, narrow palate, Cryptorc... ORPHA:2879
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Hajdu-Cheney Syndrome
Wide nose, Ventricular septal defect, Anteverted nares, Intestinal malrotation, Micrognathia, Abs... OMIM:102500
Charge Syndrome
Vesicoureteral reflux, Micropenis, Depressed nasal bridge, Hypogonadotropic hypogonadism, Cleft u... ORPHA:138
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, Short hallux, Short foot, High palate, S... ORPHA:93258
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose OMIM:611936
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Hypospadias, Submucous cleft hard palate, Aortic root aneurysm, Chordee, Type II diabetes mellitu... OMIM:618891
Erythrocytosis, Familial, 2
Varicose veins, Stroke, Cerebral hemorrhage OMIM:263400
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Wide mo... OMIM:618590
Sillence Syndrome
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morp... ORPHA:3168
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pachygyria, Pulmonary artery stenosis, Hyperten... OMIM:100300
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Accelerated skeletal maturation, Hypopl... OMIM:253220
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Multiple prenatal fractures, Absent ossification of calvaria, Platyspondyly,... OMIM:166210
Alagille Syndrome 1
Hypoplasia of the ulna, Depressed nasal bridge, Ventricular septal defect, Long nose, Bulbous nos... OMIM:118450
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hyp... OMIM:269150
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis, Pulmonary artery ... ORPHA:991
Foix-Alajouanine Syndrome
Neurogenic bladder, Urinary incontinence, Functional abnormality of the bladder, Urinary retentio... ORPHA:79093
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon... ORPHA:209905
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral... OMIM:123700
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... ORPHA:3472
Kaposi Sarcoma
Venous insufficiency ORPHA:33276
Renal Nutcracker Syndrome
Proteinuria, Vulval varicose vein, Hematuria, Varicose veins, Renal artery stenosis, Microscopic ... ORPHA:71273
Rhombencephalosynapsis
Microretrognathia, Anteverted nares, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal... ORPHA:59315
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Cleft palate, Anteriorly placed anus, C... OMIM:309801
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, Carious teeth, High palate, Narrow mouth, Malar flattening, Short nose, Long ph... OMIM:219200
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Anteverted nares, Choanal atresia, Ventricular septal defect, Micrognathia, Hypospadias, Cleft li... OMIM:616975
Kabuki Syndrome 1
Premature thelarche, Micrognathia, High palate, Atrial septal defect, Micropenis, Hemolytic anemi... OMIM:147920
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Abnormal heart morphology ORPHA:1867
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Renal cyst, Glossoptos... ORPHA:2031
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Bruising susceptibility, Arterial rupture OMIM:619115
Bartsocas-Papas Syndrome 1
Anal stenosis, Short metacarpal, Hypoplastic scapulae, Cleft upper lip, Underdeveloped nasal alae... OMIM:263650
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, W... OMIM:619306
3Mc Syndrome 1
Ventricular septal defect, Dental crowding, Supernumerary nipple, Cleft upper lip, Cleft lip, Pat... OMIM:257920
Cerebrooculonasal Syndrome
U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Narrow palate,... OMIM:605627
Weill-Marchesani Syndrome 1
Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arter... OMIM:277600
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Patent ductus arteriosus, Varico... ORPHA:33001
Orofaciodigital Syndrome X
Depressed nasal bridge, Hand oligodactyly, Cleft palate, Retrognathia, Fibular aplasia OMIM:165590
Juvenile Polyposis Of Infancy
Refractory anemia, Depressed nasal bridge, High, narrow palate, Rectal prolapse, Adenomatous colo... ORPHA:79076
Fryns Syndrome
Ureteral duplication, Tented upper lip vermilion, Ectopic pancreatic tissue, Renal cyst, Atrial s... OMIM:229850
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Hypoparathyroidism, Micromelia, Abnormal circulating calcium-phosphate regulati... ORPHA:50810
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement OMIM:616028
Dravet Syndrome
Limited neck range of motion, Cyanotic episode ORPHA:33069
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platy... OMIM:618019
Meester-Loeys Syndrome
Poor wound healing, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm... OMIM:300989
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Platyspondyly, Severe platyspondyly, Short neck OMIM:187600
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Wafer-thin ... OMIM:151210
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Ventricular septal defect, Hamartoma of tongue, Micrognathia, Cle... OMIM:615948
Atelosteogenesis, Type I
11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Depressed nasal bridge, Rhizomeli... OMIM:108720
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Ventricular septal defect, Dental crowding, Micrognathia, High, narrow... ORPHA:2789
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bri... OMIM:615803
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Tetrasomy 5P
Anteverted nares, Short hallux, Micrognathia, Wide nasal bridge, High palate, Long philtrum, Shor... ORPHA:3309
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Ventricular septal defect, Tented upper lip vermilion, Anteverted nares OMIM:614961
Myopathy With Extrapyramidal Signs
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Splenomegaly, Leukocytosis OMIM:615673
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Anterior pituitary hypoplasia, Prominent nose, Bilateral cryptorchidism, High, n... ORPHA:466791
Fanconi Anemia
Micrognathia, Leukopenia, High palate, Atrial septal defect, Abnormality of the hypothalamus-pitu... ORPHA:84
Frontometaphyseal Dysplasia 2
Short metacarpal, Neurogenic bladder, Bicuspid aortic valve, Depressed nasal bridge, Broad nasal ... OMIM:617137
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cardiomyopathy, Cyanosis ORPHA:159
Ayme-Gripp Syndrome
Mandibular prognathia, Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Abnormalit... OMIM:601088
Myhre Syndrome
Mandibular prognathia, Short palm, Craniofacial hyperostosis, Abnormal penis morphology, Hypospad... ORPHA:2588
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal maturation, Flex... OMIM:300232
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridg... OMIM:139210
10Q22.3Q23.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Macroglossia, High palate, Na... ORPHA:357001
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... ORPHA:904
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Anteverted nares, Dental crow... ORPHA:261323
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Early onset of sexual maturation, Atria... OMIM:194050
Microphthalmia, Syndromic 3
Vertebral fusion, Patent ductus arteriosus, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia OMIM:206900
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypoplastic left heart OMIM:618829
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Anteverted nares, Hypospadias, Protruding tongue, Micrognathia, High, ... OMIM:214100
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth OMIM:618798
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Micrognathia, Short thu... OMIM:268400
2Q31.1 Microdeletion Syndrome
Short palm, Ventricular septal defect, Micrognathia, Cryptorchidism, Bulbous nose, Deep philtrum,... ORPHA:251014
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Broad nasal tip, Micrognathia, Wide nasal bridge, High palate, Long philt... OMIM:300749
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Adactyly, Wide nasal bridge, Cle... ORPHA:989
Weill-Marchesani Syndrome 2
Short metacarpal, Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, P... OMIM:608328
Trichohepatoenteric Syndrome 1
Wide nose, Villous atrophy, Anteverted nares, Ventricular septal defect, Hypospadias, Increased m... OMIM:222470
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Medial calcification of large arteries, Functional abnormality of the bladder, T... ORPHA:391487
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Proteinuria, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal t... OMIM:613404
Esophageal Atresia
Tetralogy of Fallot, Ventricular septal defect, Cyanosis, Coarctation of aorta ORPHA:1199
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Abnormal aortic morphology, Nephroblastoma ORPHA:1001
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Delayed closure of the anterior fontanelle, Sclerotic scapula... OMIM:224300
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Abnormality of the dentition, Micrognathia, Delayed puberty,... ORPHA:90154
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Micrognathia, Cryptorc... OMIM:613884
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Flat acetabular roof, Irregular vertebral endplates... OMIM:271700
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard p... ORPHA:261537
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Hypoplasia of the premaxilla, Micrognat... ORPHA:2166
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Faciodigitogenital Syndrome, Autosomal Recessive
Anteverted nares, Prominent nasal bridge, Trismus, Deep philtrum, Cryptorchidism, Dental malocclu... OMIM:227330
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bone hypoplasia OMIM:184253
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Hypospadias, Short ... ORPHA:2438
Mowat-Wilson Syndrome
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard p... ORPHA:2152
Mogs-Cdg
Wide nose, Cardiomegaly, Thrombocytopenia, Retrognathia, Hepatosplenomegaly, Hydrocele testis, Hi... ORPHA:79330
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Decreased response to growth hormone stimulation t... OMIM:616007
Geleophysic Dysplasia 1
Short palm, Mitral stenosis, Anteverted nares, Tricuspid stenosis, Wide mouth, Short foot, Aortic... OMIM:231050
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Rhizomelia, Allergic rhinitis, Patent ductus arteri... OMIM:618162
Vacterl/Vater Association
Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Atelosteogenesis Type I
Joint dislocation, Abnormal ossification involving the femoral head and neck, Coronal cleft verte... ORPHA:1190
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malforma... ORPHA:1556
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car... OMIM:608836
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Deep philtrum, Wide mouth, Sho... ORPHA:1974
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling OMIM:612852
Distal Deletion 19P
Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Short philtrum, Tricuspid val... ORPHA:96129
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard p... ORPHA:261552
Peho Syndrome
Anteverted nares, Open mouth, Gingival overgrowth, Abnormal upper lip morphology, Malar flattenin... ORPHA:2836
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia, Air bronchogram OMIM:306400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ... ORPHA:268261
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Ataxia-Telangiectasia
Sinusitis, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopeni... OMIM:208900
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Short neck, Increased nuchal translucency, Single ventricle OMIM:619879
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, 11 pairs of ribs, Neurogenic bladder, Tented upper lip vermilion, Ventricu... ORPHA:488632
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Coarctation of aorta, Prolonged prothromb... OMIM:614300
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Hamartoma of tongue, Accessory oral frenulum, Micromelia, Aplastic clavic... OMIM:616546
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tubular epitheli... ORPHA:228308
Noonan Syndrome 7
Depressed nasal bridge, Thick vermilion border, Pulmonic stenosis, Atrial septal defect, Hypertro... OMIM:613706
Tuberous Sclerosis 1
Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary lymphangio... OMIM:191100
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Choanal atresia, Proboscis, Unilate... ORPHA:141099
Clapo Syndrome
Lymphangioma, Varicose veins, Capillary malformation of the lip, Venous malformation ORPHA:168984
Acquired Purpura Fulminans
Intracranial hemorrhage, Acrocyanosis, Macular purpura ORPHA:49566
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Decreased testicular size, Ve... ORPHA:459070
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Proteinuria, Pericardial effusion, Renal cyst, Stroke-like episode, Cardiomyopathy,... OMIM:212065
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Micrognathia ORPHA:1129
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... OMIM:261740
Lymphatic Malformation 13
Depressed nasal bridge, Patent ductus arteriosus, Hydrocele testis, Long philtrum, Atrial septal ... OMIM:620244
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Abnormal lymphatic vessel morphology... ORPHA:464329
Cystic Echinococcosis
Renal cyst, Abnormal heart morphology, Ovarian cyst, Membranous nephropathy, Hepatic cysts ORPHA:400
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Cyanosis, Calcification of the aorta, Hypoxemia, Oxygen desaturation ... ORPHA:60025
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Bilateral cryptorchidism, Bulbous nose, Wide nasal bridge, Micropenis, A... OMIM:617403
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Microme... OMIM:200600
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Adenylosuccinase Deficiency
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum OMIM:103050
Desbuquois Dysplasia 2
Joint laxity, Lumbar hyperlordosis, Short neck, Radial head subluxation, Hip dislocation, Advance... OMIM:615777
Aymé-Gripp Syndrome
Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Proteinuria, Pericardial effusion... ORPHA:1272
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Narrow mouth,... OMIM:601776
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mu... ORPHA:98914
Congenital Myasthenic Syndrome
Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mu... ORPHA:590
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Anterior scalloping of vertebral bodies, Delayed epiphyseal ossification, Cuboid-shap... OMIM:611717
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature,... ORPHA:284227
Spinocerebellar Ataxia-Dysmorphism Syndrome
Downturned corners of mouth, Short nose, Anteverted nares, Thick vermilion border ORPHA:1185
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancrea... OMIM:263520
Fucosidosis
Decreased muscle mass, Acrocyanosis, Vascular skin abnormality, Cardiomegaly ORPHA:349
Basal Cell Nevus Syndrome 1
Vertebral fusion, Kyphoscoliosis, Hemivertebrae, Irregular ossification of hand bones, Vertebral ... OMIM:109400
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... OMIM:166200
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Axial Osteomalacia
Renal cyst OMIM:109130
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Short nose OMIM:618087
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Diets-Jongmans Syndrome
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Broad nasal tip, Cryptorchidism... OMIM:618846
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena... ORPHA:464311
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Depressed ... OMIM:600373
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Cleft palate,... OMIM:616462
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Micrognathia, Atrial septal defect, Advanced eruption of teeth, Atrioventric... ORPHA:818
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Cardiomyopath... ORPHA:157
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Lethal Kniest-Like Dysplasia
Hypoplastic vertebral bodies, Coronal cleft vertebrae, Platyspondyly, Short neck ORPHA:2347
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Ureteral... ORPHA:1662
Stuve-Wiedemann Syndrome 1
Pursed lips, Anteverted nares, Micrognathia, Carious teeth, Pulmonary arterial medial hypertrophy... OMIM:601559
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, H... OMIM:619426
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Downturned corners of mouth, Widely spaced teeth, ... ORPHA:199
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Kyphoscoliosis, Platyspondyly, Delayed ossification of carpal bones, Cervical instability, Thorac... OMIM:617425
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascul... ORPHA:1900
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Short nose, Hypodontia ORPHA:544503
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Absent nipple, Depressed nasal bridge, Abnormal oral mucosa morpholo... OMIM:305100
Smith-Lemli-Opitz Syndrome
Dental crowding, Micromelia, Micrognathia, Renal cyst, Atrial septal defect, Micropenis, Bifid uv... OMIM:270400
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... ORPHA:500095
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Ventricular septal defect, ... ORPHA:2461
Thanatophoric Dysplasia, Type Ii
Platyspondyly OMIM:187601
Monosomy 9P
Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Choanal atresia, Ab... ORPHA:261112
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Cyano... ORPHA:51608
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Thoracic scoliosis, Generalized joint laxity, Genu valgum, Platyspondyl... OMIM:613848
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Cadds
Short nose, Adrenal hypoplasia, Micrognathia ORPHA:369942
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Orofaciodigital Syndrome Type 14
Microretrognathia, Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Bilat... ORPHA:434179
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis, Cerebral hemorrhage, Short distal phalanx of finger OMIM:277450
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca... OMIM:613254
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Choanal stenosis, S... ORPHA:798
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Patent ductus arteriosus, Flexion contracture, Abnormal heart morphology, Total anomalous pulmona... ORPHA:487796
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy... OMIM:163950
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Abnormal carpal morphology, Genu varum ORPHA:85166
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae OMIM:619227
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Dental cro... ORPHA:79329
Chand Syndrome
Atelectasis, Hypohidrosis ORPHA:1401
Focal Dermal Hypoplasia
Narrow nasal bridge, Multicystic kidney dysplasia, Abnormal dental morphology, Ventricular septal... ORPHA:2092
Stickler Syndrome
Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Cleft upper lip, Ope... ORPHA:828
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Atrial septal defect, Retrognathia,... ORPHA:457351
Deeah Syndrome
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... OMIM:619004
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Vater/Vacterl Association
Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Patent d... OMIM:192350
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Scapular winging, Progeroid facial appearance, Mitral valve ... OMIM:616914
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Delayed eruption of teeth, Mitral valve calcification, Prominent superfi... ORPHA:740
Joubert Syndrome 39
Hypoplastic left heart, Polycystic kidney dysplasia OMIM:619562
Opsismodysplasia
Short palm, Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Hypoplasia of... OMIM:258480
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Accelerated skeletal maturation, Thoracic platyspondyly... OMIM:619636
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Depressed nasal bridge, Choanal atresia, Choanal stenosis, Long philtrum, Atrial septal defect, M... OMIM:207410
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Depressed nasal bridge, Cryptorchidism, Cleft palate, Narrow mouth, Mal... OMIM:601353
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Dental crowding, Splenomegaly, Bulbous nose, Patent ductus arteriosus,... OMIM:618268
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Atrioventricular canal defect, Horseshoe kidney, Coarctation of aorta OMIM:617088
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Aplasia of the thymus, Duodenal atresia ORPHA:3004
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Rec... OMIM:617157
Lissencephaly 9 With Complex Brainstem Malformation
Pachygyria, Ventricular septal defect, Lissencephaly OMIM:618325
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cutis marmorata, Cardiomegaly, Calcification of the aorta,... ORPHA:51
Ulnar-Mammary Syndrome
Hypoplasia of penis, Ventricular septal defect, Pyloric stenosis, Cryptorchidism, Absent hand, Re... ORPHA:3138
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia, Cleft palate, Glossoptosis... ORPHA:1393
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopathy, 3-Methylglutaric ac... ORPHA:26791
Heart Block, Congenital
Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node OMIM:234700
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat... OMIM:607944
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Eosinophilic Fasciitis
Muscular edema, Myositis, Acrocyanosis ORPHA:3165
Congenital Myopathy 22B, Severe Fetal
Tented upper lip vermilion, Dental crowding, Micrognathia, Wide nasal bridge, Triangular mouth, H... OMIM:620369
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... ORPHA:391665
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena... ORPHA:464306
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Recurrent respiratory infections, Hypertension OMIM:619758
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Depressed nasal bridge, Anteverted nares, Micrognathia, Patent ductus arteriosus, Pierre-Robin se... OMIM:300868
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... ORPHA:42775
Kbg Syndrome
Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kyphosis OMIM:148050
Achondroplasia
Lumbar hyperlordosis, Limited hip extension, Generalized joint laxity, Lumbar kyphosis in infancy... OMIM:100800
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Depressed nasal bridge, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuric... OMIM:300661
Lymphatic Malformation 6
Micrognathia, Splenomegaly, Hydrocele testis, Varicose veins, Atrial septal defect, Intestinal ly... OMIM:616843
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Dilation of Virchow-Robin spaces, Exaggerated cupid's bow, Narrow nasal ri... OMIM:619512
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short nose, Micrognathia OMIM:615851
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ... OMIM:618914
Coffin-Siris Syndrome 1
Conical tooth, Ectopic kidney, Short philtrum, High palate, Atrial septal defect, Microdontia, De... OMIM:135900
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial ossification,... OMIM:620076
Hyperoxaluria, Primary, Type I
Acrocyanosis, Peripheral arterial stenosis, Cutis marmorata OMIM:259900
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... OMIM:229400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Micrognathia, Congenital hypothyroidism, High palate, Long philtrum, ... OMIM:617527
Treacher Collins Syndrome 2
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Choanal stenosis, Hypoplasia of t... OMIM:613717
Schimke Immunoosseous Dysplasia
Osteopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyp... OMIM:242900
Congenital Disorder Of Glycosylation, Type Iiw
Wide nose, Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hemat... OMIM:619525
C Syndrome
Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Accessory oral frenulum, ... ORPHA:1308
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Accessory spleen, Ventricular septal defect, Depressed nasal bridge, Splenomeg... OMIM:619418
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Intestinal malro... OMIM:620305
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Anemia, Narrow mouth... ORPHA:2719
Opsismodysplasia
Hypoplastic vertebral bodies, Splenomegaly, Short nose, Depressed nasal bridge ORPHA:2746
Cerebrofaciothoracic Dysplasia
Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum ORPHA:1394
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Prominent nose, Abnormal periodontium morphology, High palate, Atrial septal defect, Depressed na... ORPHA:480880
Turnpenny-Fry Syndrome
Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Microdontia, Abnormality of the... OMIM:618371
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Lissencephaly, Atrial septal defect, Right atr... OMIM:615219
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy, Perisylvian polymicr... OMIM:619121
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... ORPHA:268882
Aicardi Syndrome
Block vertebrae, Hemivertebrae, Gray matter heterotopia, Scoliosis, Pachygyria, Polymicrogyria, B... OMIM:304050
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula... ORPHA:95699
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc... ORPHA:2237
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Thin upper lip vermilion, Depressed nasal bridge, Hypospadias, Broad nasal tip, Micrognathia, Nar... OMIM:309590
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Narrow mouth, Car... ORPHA:77301
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foramen ovale, Rec... OMIM:607143
Carpenter Syndrome 2
Bilateral cryptorchidism, High, narrow palate, High palate, Atrial septal defect, Micropenis, Dep... OMIM:614976
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Ureteropelvic junction obstruction, Exaggerated cupid's bow, Vesicovaginal... OMIM:300896
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Dend Syndrome
Anteverted nares, Elevated hemoglobin A1c, Downturned corners of mouth, Long philtrum, Short nose ORPHA:79134
Robin Sequence With Cleft Mandible And Limb Anomalies
Prominent nose, Micrognathia, Aplasia of the epiglottis, High palate, Short tibia, Bifid uvula, M... OMIM:268305
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve ... ORPHA:99103
Restrictive Dermopathy 1
Natal tooth, Ureteral duplication, Depressed nasal bridge, Choanal atresia, Narrow nasal ridge, M... OMIM:275210
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Depressed nasal ridge, Orofacial cleft, High palate, Atria... OMIM:607872
Oculocerebrorenal Syndrome Of Lowe
Atelectasis, Recurrent respiratory infections ORPHA:534
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Arterial tortuosity, Patent ductus arteriosus, Dental malocclusion, Cleft pa... ORPHA:284984
Magel2-Related Prader-Willi-Like Syndrome
Narrow nasal bridge, Thin upper lip vermilion, Premature pubarche, Precocious puberty, Cryptorchi... ORPHA:398069
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,... OMIM:225250
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Intracranial hemorrha... OMIM:613406
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Death in infancy, Cyanosis, Ragged-red muscle fibers, Concentric hypertr... OMIM:252010
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum, Atrial septal defect, Bif... ORPHA:500150
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect OMIM:619135
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Alg12-Cdg
Recurrent respiratory infections, Recurrent pharyngitis, Patent ductus arteriosus, Recurrent pneu... ORPHA:79324
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Arboleda-Tham Syndrome
Mandibular prognathia, Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corner... OMIM:616268
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Anteverted nares, Dep... OMIM:618332
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Patent ductus arteriosus, Atrioventricular canal defect, Coarctat... OMIM:619480
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Depressed nasal bridge, Proteinuria, Narrow nasal ridge, Underdevelop... OMIM:619127
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Short palm, Neutropen... ORPHA:93357
Treacher Collins Syndrome 1
Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart mo... OMIM:154500
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Wide mouth, Micro... OMIM:617798
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Vesico... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Vesico... ORPHA:363958
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Aplasia/Hy... ORPHA:306542
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm, Mitral valve prolapse ORPHA:449291
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Pancreatic fibrosis, Micromelia, Hypoplasia of the small intestine, Polyspleni... OMIM:200995
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Hypoplasia of the radius, Wide nasal bridge, Short nose ORPHA:2557
Limb Body Wall Complex
Depressed nasal bridge, Choanal atresia, Ventricular septal defect, Aplasia/hypoplasia involving ... ORPHA:2369
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia OMIM:614091
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Plaa-Associated Neurodevelopmental Disorder
Tented upper lip vermilion, Micrognathia, High palate, Long philtrum, Short nose, Smooth philtrum ORPHA:521426
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Open mouth, Hypoplastic aortic arch, Anteverted nares, Unilateral renal agenesis ORPHA:457284
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Limb hypertonia OMIM:619580
Holoprosencephaly 9
Depressed nasal bridge, Hypoplasia of the premaxilla, Decreased response to growth hormone stimul... OMIM:610829
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Depressed nasal bridge, Short ribs OMIM:615503
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Flexion contracture, Mitral valve prolapse, Hypoxemia, Asc... ORPHA:284979
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Saul-Wilson Syndrome
Irregular vertebral endplates, Platyspondyly, Madelung deformity, Hypoplasia of the odontoid process OMIM:618150
Aicardi Syndrome
Block vertebrae, Pachygyria, Scoliosis, Polymicrogyria, Butterfly vertebrae ORPHA:50
Duane Retraction Syndrome
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... ORPHA:233
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue,... ORPHA:570
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Abnormal vena cava morp... ORPHA:1677
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Ectopic kidney, Absent r... OMIM:227645
Schwartz-Jampel Syndrome
Short neck, Wrist flexion contracture, Abnormally ossified vertebrae, Increased bone mineral dens... ORPHA:800
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd metacarpal, Aplasi... OMIM:181450
Renal Agenesis
Hypertension, Ventricular septal defect, Pulmonary hypoplasia ORPHA:411709
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c... ORPHA:892
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia ORPHA:93947
Coffin-Lowry Syndrome
Mandibular prognathia, Wide nose, Short metacarpal, Anteverted nares, Rectal prolapse, Thick lowe... OMIM:303600
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... OMIM:252150
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Renal hypoplasia, Renal cyst OMIM:616300
Cerebellofaciodental Syndrome
Ventricular septal defect, Cryptorchidism, Dental malocclusion, Shortening of all distal phalange... OMIM:616202
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Hypospadias, Micrognathia, Cryptorchidism, Splenomegaly, Cleft palate,... OMIM:614866
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Neurodevelopmental Disorder With Spasticity And Poor Growth
Recurrent respiratory infections, Patent ductus arteriosus, Achilles tendon contracture, Knee fle... OMIM:618076
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Depressed nasal bridge, High, narrow palate, Renal tubular acidosis, S... OMIM:619575
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Mitral valve prolapse, Dilatation of the cerebra... ORPHA:287
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, Platyspondyly, Vertebral wedging OMIM:617866
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Delayed proximal femoral epiphy... OMIM:271640
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, High, narrow palate, Short philtrum, High palate, Micropenis, Anteverted n... OMIM:619475
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Aplasia/Hypoplasia of the ribs, Rhizomelia, Decreased response to growt... ORPHA:319182
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Carious teeth, Small h... OMIM:619229
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Hyperplasia of the ... OMIM:268300
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Thin upper lip vermilion, Atrial septal defect, Prominent nasal tip, Short nose, Smooth philtrum ORPHA:522077
Neu-Laxova Syndrome 1
Wide nose, Ventricular septal defect, Micromelia, Swollen lip, Cleft upper lip, Micrognathia, Pat... OMIM:256520
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... ORPHA:536532
Mucolipidosis Type Ii
Aortic regurgitation, Recurrent respiratory infections, Hip contracture, Abnormal atrioventricula... ORPHA:576
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Greenberg Dysplasia
Recurrent fractures, Multiple prenatal fractures, Costal cartilage calcification, Patchy variatio... OMIM:215140
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Malabsorption, Triangular mouth, Hypogonadism, Short nose, Retrognathia OMIM:601675
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Death in infancy, Cyanosis, Neonatal death OMIM:610921
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... OMIM:606721
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Dilatation of the ventricular cavity, Coronary artery stenos... ORPHA:66529
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Prominent nose, Micrognathia, Renal cyst, Short philtrum, Atrial septal defect, Micro... OMIM:210710
Jaberi-Elahi Syndrome
Short nose, Depressed nasal bridge, Triangular mouth OMIM:617988
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Abnormality of the philtrum, Short hallux, Cleft upper lip, Micr... ORPHA:280
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... OMIM:616682
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Livedoid Vasculopathy
Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke ORPHA:542643
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Shallow acetabular fossae ORPHA:1830
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... ORPHA:79404
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Inflammation of the lar... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Inflammation of the lar... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Inflammation of the lar... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Inflammation of the lar... ORPHA:881
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Broad nasal tip, Wide... OMIM:620330
Alveolar Echinococcosis
Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, Abnormal bladder morphology, Hepat... ORPHA:284
Sepsis In Premature Infants
Jaundice, Cyanosis, Petechiae, Purpura ORPHA:90051
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hyperhidrosis, H... OMIM:614653
Combined Oxidative Phosphorylation Deficiency 3
Patent ductus arteriosus, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiom... OMIM:610505
Pallister-Killian Syndrome
Tented upper lip vermilion, Micrognathia, Renal cyst, Anteriorly placed anus, Short palm, Atrial ... OMIM:601803
Genitopatellar Syndrome
Delayed eruption of teeth, Wide nose, Anal stenosis, Ventricular septal defect, Prominent nasal b... OMIM:606170
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Intrauterine growth retardation OMIM:620183
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Aganglionic megacolon, Anteverted nares, Hypospadias, Epispadias, Abno... ORPHA:3339
Costello Syndrome
Renal insufficiency, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Microgn... OMIM:218040
1P36 Deletion Syndrome
Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormal... ORPHA:1606
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine... OMIM:252160
Immunodeficiency 23
Aortic root aneurysm, Erythema, Vasculitis in the skin OMIM:615816
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:3186
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect OMIM:620242
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Scapular winging, Internal carotid artery dissection, Bicuspid ... OMIM:150230
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis OMIM:616482
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Sinusitis, ... OMIM:102700
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Thyroidit... ORPHA:83471
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Joint laxity, Short neck, Perisylvian polymicrogyria, Advanced ossification of carpal bones, Flat... OMIM:610442
Wolf-Hirschhorn Syndrome
Accessory spleen, Ventricular septal defect, Hypospadias, Short hallux, Cleft upper lip, Microgna... OMIM:194190
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Bardet-Biedl Syndrome
Nephrotic syndrome, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:110
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Ureth... ORPHA:857
Peters-Plus Syndrome
Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Micrognathia, Hypoplasia of t... OMIM:261540
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts ORPHA:2869
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Micrognathia, Abnormal heart morphology, Mitral valve prola... ORPHA:363700
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Distal Deletion 12Q
Ectopic kidney, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Polycystic ki... ORPHA:96149
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
1P21.3 Microdeletion Syndrome
Wide mouth, Short nose, Micrognathia, Broad nasal tip ORPHA:293948
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Cleft soft palate, Intestinal malrotation, Leukocytosis, Renal hypopla... OMIM:619321
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Diphallia
Duplicated colon, Ureteral duplication, Rectoperineal fistula, Hypospadias, Distal urethral dupli... ORPHA:227
Warburg Micro Syndrome 2
Cryptorchidism, Short nose, Prominent nasal bridge, Micropenis OMIM:614225
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Pulmonary arterial hypertension,... OMIM:619573
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed skeletal maturation, Platyspondyly, Pachygyria, Accelerated skeletal maturation ORPHA:93317
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Patent ductus arteriosus, Abnormality of the ureter, C... OMIM:249000
Gm1 Gangliosidosis Type 1
Hypoplastic vertebral bodies, Platyspondyly, Acetabular dysplasia, Beaking of vertebral bodies T1... ORPHA:79255
Spondyloenchondrodysplasia
Kyphosis, Arthritis, Platyspondyly, Juvenile rheumatoid arthritis, Lower limb pain ORPHA:1855
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious... ORPHA:438213
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Cardiomyopathy, Ischemic stroke, Vasculit... ORPHA:48435
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short palm, Short metacarpal, Depressed nasal bridge, Micromelia, Micrognathia, Hypoplasia of the... OMIM:271665
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocarditis, Vasculitis, Erythema, Inflammatory myopath... ORPHA:221
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Avascular necrosis of the capital femoral epiphysis, Kyphosis, Osteopor... ORPHA:198
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia, Micrognathi... OMIM:618820
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Protrusio acetabuli, Kyp... OMIM:225400
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis OMIM:615802
Occipital Horn Syndrome
Joint laxity, Persistent open anterior fontanelle, Kyphosis, Capitate-hamate fusion, Osteoporosis... OMIM:304150
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Precocious puberty, Cleft pa... ORPHA:1934
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H... ORPHA:93111
Otopalatodigital Syndrome, Type Ii
Short metacarpal, Depressed nasal bridge, Hypospadias, Short hallux, Micrognathia, Short thumb, C... OMIM:304120
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Platyspondyly, Large knee, Scoliosis OMIM:619269
Trichothiodystrophy
Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Carious teeth, High, narro... ORPHA:33364
Mody
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria ORPHA:552
Aspartylglucosaminuria
Mandibular prognathia, Aspartylglucosaminuria, Abnormality of the dentition, Carious teeth, Malab... ORPHA:93
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Arterial tortuosity, Aortic root aneurysm, Generalized arterial ... OMIM:614437
Menkes Disease
Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Bladder diverticulum, Abnormal ... ORPHA:565
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis,... ORPHA:2750
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Choanal Atresia
Cyanosis ORPHA:137914
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Micrognathia, Biliary hyperplasia, Leukopenia, Aminoaciduria, Pr... OMIM:619991
Tropical Endomyocardial Fibrosis
Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Myocardial calcification... ORPHA:75565
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Flexion contracture, Subdural hemorrhage, Premature graying of hair, Car... ORPHA:90324
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Marfan Syndrome
Reduced subcutaneous adipose tissue, Decreased muscle mass, Bicuspid aortic valve, Flexion contra... OMIM:154700
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Ovoid vertebral bodies, Scoliosis ORPHA:85167
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Distal Deletion 3P
Atrioventricular canal defect ORPHA:1620
Craniotubular Dysplasia, Ikegawa Type
Short palm, Ventricular septal defect, Anteverted nares, Thick lower lip vermilion, Wide nasal br... OMIM:619727
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Johanson-Blizzard Syndrome
Anteriorly placed anus, Downturned corners of mouth, Atrial septal defect, Hypoplasia of the prim... OMIM:243800
Poems Syndrome
Pericardial effusion, Acrocyanosis ORPHA:2905
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Ethylene Glycol Poisoning
Cyanosis, Facial palsy ORPHA:31826
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr... OMIM:107480
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Craniosynostosis, Short neck, Joint stiffness, Osteolysis, Genu valgum,... ORPHA:309282
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Micrognathia OMIM:619036
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Yunis-Varon Syndrome
Micrognathia, Short metatarsal, Short philtrum, High palate, Absent hallux, Micropenis, Patent fo... OMIM:216340
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis OMIM:208500
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:607721
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Kyphomelic Dysplasia
Platyspondyly, Limitation of joint mobility, Flat acetabular roof, Pterygium OMIM:211350
Acromesomelic Dysplasia 1
Short metacarpal, Short toe, Hypoplasia of the radius, Short metatarsal, Acromesomelia, Short nose OMIM:602875
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aor... ORPHA:285
Aspartylglucosaminuria
Joint laxity, Kyphosis, Delayed skeletal maturation, Platyspondyly, Spondylolysis, Scoliosis, Pat... OMIM:208400
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:99880
Myasthenic Syndrome, Congenital, 21, Presynaptic
Weakness of facial musculature, Cyanosis, Knee flexion contracture OMIM:617239
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Diabetes mellitus, Hypospadias, Dextrocardia, Aplasia/Hypoplasia... ORPHA:2911
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis OMIM:610913
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Delayed eruption of teeth, Short metacarpal, Hypoplasia of the ulna, Ven... OMIM:143095
Spondyloepimetaphyseal Dysplasia, X-Linked
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Genu varum, Ant... OMIM:300106
Lowe Oculocerebrorenal Syndrome
Osteomalacia, Camptodactyly of finger, Wrist swelling, Kyphosis, Rickets, Hip dislocation, Genu v... OMIM:309000
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:143
Myasthenia Gravis
Myositis, Acrocyanosis ORPHA:589
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst OMIM:610199
Proteus Syndrome
Thymus hyperplasia, Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morphology, ... ORPHA:744
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Pearson Syndrome
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Abnormal heart morphology, Cardiomy... ORPHA:699
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi... OMIM:266920
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cyanosis, Death in childhood OMIM:618426
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Pleural effusion, Panniculitis, Chylothorax ORPHA:2526
Ring Chromosome 12 Syndrome
Secundum atrial septal defect ORPHA:1439
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Peroxisome Biogenesis Disorder 4B
Short nose, Adrenal insufficiency, Ureterocele OMIM:614863
Bardet-Biedl Syndrome 20
Proteinuria, Bilateral cryptorchidism, Atrial septal defect, Male hypogonadism, Micropenis OMIM:619471
Spondyloocular Syndrome
Duodenal ulcer, Unilateral cryptorchidism, Abnormality of the dentition, Mitral valve prolapse, A... OMIM:605822
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Short metacarpal, Rhizomelia, Depressed nasal bridge, Myocarditis, Short toe, S... OMIM:250220
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Aortic regurgitation OMIM:620072
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Pauci-Immune Glomerulonephritis
Arteritis, Abnormality of the pulmonary vasculature, Pulmonary hemorrhage, Small vessel vasculiti... ORPHA:93126
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst OMIM:193300
Primary Hyperoxaluria
Cardiomyopathy, Acrocyanosis, Cutis marmorata ORPHA:416
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale, Arteria lusoria, Heart murmur OMIM:618653
Pitt-Hopkins Syndrome
Failure of eruption of permanent teeth, Acrocyanosis, Short neck ORPHA:2896
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Osteogenesis Imperfecta
Abnormal endocardium morphology, Delayed eruption of teeth, Cerebral hemorrhage, Flexion contract... ORPHA:666
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Situs inversus totalis, Pancreatic cysts, Ure... ORPHA:564
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... OMIM:613355
Sotos Syndrome
Ureteral duplication, No permanent dentition, Vesicoureteral reflux, Atrial septal defect, Hypoth... ORPHA:821
Beckwith-Wiedemann Syndrome
Ureteral duplication, Nephroblastoma, Cardiomegaly, Nephrolithiasis, Hypercalciuria, Congenital m... ORPHA:116
Microphthalmia With Limb Anomalies
Venous insufficiency, Horseshoe kidney ORPHA:1106
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Flexion contracture, Severe intrauterine growth retardation OMIM:609069
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Fused cervical vertebrae, Coronal craniosynostosis, Contracture of the distal interphalangeal joi... ORPHA:83617
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Oliguria, Stage 5 chro... ORPHA:731
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia OMIM:200980
Chilton-Okur-Chung Neurodevelopmental Syndrome
Aplasia of the right hemidiaphragm, Epistaxis, Patent ductus arteriosus, Cephalohematoma, Intraut... OMIM:619841
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis ORPHA:293987
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent upper respiratory tract infections, Hypohidrosis, Hypertension, Neonatal death, Atrial ... OMIM:308205
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Enlargement of the ankles, Multiple joint contractures, Short neck, Abnormal joint morphology, Ir... ORPHA:99646
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Kyphosis, Delayed skeletal maturation, Platyspondyly, Abnormality of the... ORPHA:2273
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Facial hypotonia, Ebstein anomaly of the tricuspid valve, Distal ar... ORPHA:506358
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Roberts Syndrome
Long penis, Polycystic kidney dysplasia ORPHA:3103
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Hydronephrosis, Micropenis OMIM:615287
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Fraser Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal hypoplasia, Urethral atresia ORPHA:2052
Goodpasture Syndrome
Cyanosis OMIM:233450
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Renal cyst OMIM:113620
Norrie Disease
Venous insufficiency ORPHA:649
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Pmm2-Cdg
Pericarditis, Proteinuria, Pericardial effusion, Intracranial hemorrhage, Nephrotic syndrome, Mul... 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
Plxnd1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Plxnd1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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