Gene: Nsd2 MGI:1276574

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

nuclear receptor binding SET domain protein 2

Synonyms:

5830445G22Rik, 9430010A17Rik, D930023B08Rik, Whsc1, D030027O06Rik, C130020C13Rik, Whsc1l

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 Nsd2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Nsd2 (2 diseases)
Human diseases predicted to be associated with Nsd2 (870 diseases)

The table below shows human diseases associated to Nsd2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Wolf-Hirschhorn Syndrome		Downturned corners of mouth, Abnormal lip morphology, Cleft upper lip, Abnormal heart valve morph...	ORPHA:280
Rauch-Steindl Syndrome		Long philtrum, Postnatal growth retardation, Intrauterine growth retardation, Short stature, Clin...	OMIM:619695

The table below shows human diseases predicted to be associated to Nsd2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno...	ORPHA:477781
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul...	ORPHA:83451
Cleft Palate, Isolated	Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Abnormality of the dentition, Short distal phalanx of finger, Dental malocclusion, Hypoplastic il...	ORPHA:1858
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Craniosynostosis 3	Dental malocclusion, Bicoronal synostosis, Hallux valgus, Sagittal craniosynostosis, Brachydactyl...	OMIM:615314
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl...	OMIM:144750
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Abno...	ORPHA:294975
Heart Defects-Limb Shortening Syndrome	Disproportionate short stature, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb sh...	ORPHA:1354
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Cleft upper lip, Short ...	OMIM:600987
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Perimembranous ventri...	OMIM:620135
Catel-Manzke Syndrome	Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness, Radial de...	ORPHA:1388
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Dental malocclusion, Long fingers, High palate, Mandibular prognathia, Mild short stature, Tapere...	OMIM:618292
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Hand polydactyly, Everted lower lip vermilion, Atrial septal defect, S...	OMIM:249670
Feingold Syndrome 2	Short thumb, 3-4 toe syndactyly, Postnatal growth retardation, Short middle phalanx of the 2nd fi...	OMIM:614326
Pierre Robin Syndrome	Cor pulmonale, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, Short toe, Long philtrum, Sandal gap, Short 5th metacarpal, 11 pairs...	OMIM:617877
Rubinstein-Taybi Syndrome 2	Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Broad thumb, Short 5th toe, Prom...	OMIM:613684
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular...	OMIM:614669
Eng-Strom Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Brachydactyl...	ORPHA:1937
Intermediate Osteopetrosis	Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cort...	ORPHA:210110
Intellectual Developmental Disorder, X-Linked 58	Short philtrum, Dental malocclusion	OMIM:300210
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Intrauterine growth retardation, Cardiomegaly...	OMIM:253250
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion, Brachydactyly, Joint hypermobility	OMIM:619692
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bifid uvula, Joint contracture of the hand, Osteopenia, Dental malocclusion, Delayed eruption of ...	OMIM:612350
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Disproportionate short stature, Abnormal epiphysis m...	ORPHA:2501
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Short stature, Dental malocclusion, Malar flattening, Widely spaced teeth	OMIM:616108
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Natal tooth, Dental malocclusion, Short 1st metacarpal, Short fir...	OMIM:601957
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger, Dental malocclusion	OMIM:155050
Dental Ankylosis	Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Mandibular prognathia, Tooth a...	ORPHA:1077
Sonoda Syndrome	Short stature, Narrow mouth, Ventricular septal defect	OMIM:270460
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization	OMIM:613211
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man...	OMIM:602483
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Atrial septal defect,...	ORPHA:52056
Sandestig-Stefanova Syndrome	Clinodactyly, Muscular ventricular septal defect, Intrauterine growth retardation, Perimembranous...	OMIM:618804
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of...	OMIM:602849
Chromosome 15Q14 Deletion Syndrome	Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Atrial septal defect, Everted l...	OMIM:616898
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Long philtrum, Intrauterine growth retardation, Death in infancy, Neo...	OMIM:608104
Hemifacial Atrophy, Progressive	Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Intellectual Developmental Disorder, Autosomal Recessive 39	Short stature, Hallux valgus, Dental malocclusion	OMIM:615541
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Joint hypermobility, Taurodontia, Perimembranous ventricular septal defect, ...	OMIM:618205
Short Stature, Dauber-Argente Type	Osteopenia, Delayed eruption of teeth, Decreased fibular diameter, Postnatal growth retardation, ...	OMIM:619489
Mcdonough Syndrome	Dental malocclusion, Open bite, Micrognathia, Abnormal palate morphology, Short stature, Short ph...	ORPHA:2471
Potocki-Lupski Syndrome	Mandibular prognathia, Dental malocclusion, Dental crowding, Micrognathia, Patent foramen ovale, ...	OMIM:610883
Dentin Dysplasia	Abnormal dental enamel morphology, Abnormal dental morphology, Increased bone mineral density	ORPHA:1653
Hamel Cerebro-Palato-Cardiac Syndrome	Narrow mouth, Death in infancy, Arachnodactyly, Atrial septal defect, Short stature, Cleft palate	ORPHA:93946
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, A...	ORPHA:363444
Spinal Muscular Atrophy, Type I	Atrial septal defect, Death in childhood, Ventricular septal defect	OMIM:253300
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open b...	ORPHA:61
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal growth ...	OMIM:618728
Lowry-Maclean Syndrome	Delayed eruption of teeth, Abnormal heart morphology, Intrauterine growth retardation, Craniosyno...	OMIM:600252
Long Qt Syndrome 16	Perimembranous ventricular septal defect	OMIM:618782
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Dilated cardiomyopathy, Sandal gap, Intrauterine growth retardation, Ventric...	ORPHA:2515
Feingold Syndrome Type 2	Toe syndactyly, Short thumb, Jejunal atresia, Ventricular septal defect, Brachydactyly, Short sta...	ORPHA:391646
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Downturned corners of mouth,...	ORPHA:1327
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Type E brachydactyly, Short 4th metacarpal, Atrial septal defect, Short stature, Short metatarsal	OMIM:113301
Seckel Syndrome 1	Ivory epiphyses, Postnatal growth retardation, Micrognathia, Dislocated radial head, High palate,...	OMIM:210600
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral va...	OMIM:305620
Three M Syndrome 2	Severe short stature, Thin ribs, Short 5th finger, Dental malocclusion, Delayed eruption of teeth...	OMIM:612921
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, Atrial septal defect, High palate, Short distal phalanx...	OMIM:620662
White Forelock With Malformations	Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect	OMIM:277740
Lessel-Kreienkamp Syndrome	Dental malocclusion, Open mouth, Patent foramen ovale, Thin upper lip vermilion, Bicuspid aortic ...	OMIM:619149
Chromosome 9P Deletion Syndrome	High, narrow palate, Narrow palate, Sandal gap, Long philtrum, Narrow mouth, Ventricular septal d...	OMIM:158170
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Ventricular septal defect, ...	OMIM:614262
Intellectual Disability, Buenos-Aires Type	Abnormal pelvic girdle bone morphology, Dental malocclusion, Open bite, Abnormal dental morpholog...	ORPHA:3079
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Dental malocclusion, Limited elbow extension, Thin upper lip vermilio...	OMIM:619719
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death	OMIM:620203
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Thick lower lip vermilion, Ventricular septal defect, Atrial septal defect, Short philtrum, Widel...	OMIM:608227
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Arthrogryposis multiplex congenita, High palate, Dental malocclusion, Mandibular prognathia	OMIM:608931
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Nemaline Myopathy 9	High palate, Arthrogryposis multiplex congenita, Cleft palate, Ventricular septal defect	OMIM:615731
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ...	OMIM:615297
Pycnodysostosis	Small hand, Carious teeth, Hypoplastic iliac wing, Micrognathia, Delayed eruption of primary teet...	ORPHA:763
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Short met...	OMIM:190350
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Dental malocclusion, Diastema, Micrognathia, Malar flattening, Brachydactyly, Short stature	ORPHA:436245
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Thick lower lip vermilion, Thick upper lip vermilion, Postnatal growth retardation, Wide mouth, M...	OMIM:309545
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Hyp...	OMIM:257850
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Oligodontia, Thin upper lip vermilion...	OMIM:616331
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Bifid uvula, Tracheomalacia, Cleft upper lip, Short thumb, Tetralogy of ...	OMIM:612561
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect	ORPHA:254351
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal heart valve morphology, Joint stiffness, Abnormal hip bone mo...	ORPHA:577
Acrootoocular Syndrome	High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Short toe, Short finger, San...	ORPHA:2980
8p23.1 deletion syndrome	Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect	DECIPHER:39
Kabuki Syndrome 2	Short 5th finger, Natal tooth, Dental malocclusion, Prominent fingertip pads, Atrioventricular ca...	OMIM:300867
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Arthrogryposis, Distal, Type 1C	Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow...	OMIM:619110
Xk Aprosencephaly Syndrome	Narrow mouth, Ventricular septal defect, Atrial septal defect, Abnormal morphology of the radius,...	ORPHA:3469
Holzgreve Syndrome	Hypoplastic left heart, Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Small hand, Downturned corners of mouth, Clinodactyly, Abnormal heart morphology, Postnatal growt...	ORPHA:254525
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ...	ORPHA:1209
Nestor-Guillermo Progeria Syndrome	Thin ribs, Microretrognathia, Dental malocclusion, Dental crowding, Pathologic fracture, Progress...	OMIM:614008
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale	OMIM:611363
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Joint hypermobility, Ventricular septal defect, Arachnodactyly, Hand polydac...	ORPHA:261243
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Postnatal growth retardation, Micrognathia, Narrow mouth, Ventricular se...	ORPHA:251028
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia, Brachydactyly, Short stature, Short metatarsal, Short met...	OMIM:613382
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Intrauterine growth retardation, Overlapping fingers, Narrow mouth...	OMIM:608779
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Limited elbow exte...	ORPHA:401935
Hamamy Syndrome	Micrognathia, Atrial septal defect, Everted lower lip vermilion, High palate, Syndactyly, Osteope...	OMIM:611174
Megabladder, Congenital	Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr...	OMIM:618719
Larsen-Like Syndrome	Dental malocclusion, Radial deviation of the 4th finger, Malar flattening, Joint hypermobility, B...	OMIM:608545
Temple-Baraitser Syndrome	Short distal phalanx of finger, Broad thumb, Downturned corners of mouth, Long philtrum, Broad ha...	OMIM:611816
Oliver Syndrome	Postaxial foot polydactyly, Dental malocclusion, Prominent fingertip pads, Short toe, Camptodacty...	ORPHA:2920
Halperin-Birk Syndrome	Intrauterine growth retardation, Death in childhood, Perimembranous ventricular septal defect, Th...	OMIM:618651
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Postnatal growth retardation, Intrauterine growth retardation, Death...	OMIM:615440
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Intestinal malrotation, Neonatal death, Ventricular septal defect, Cleft...	OMIM:615524
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Postnatal growth retardation, Intrauterine growth reta...	OMIM:619184
Coffin-Siris Syndrome 5	Short distal phalanx of finger, Sandal gap, Thick lower lip vermilion, Intrauterine growth retard...	OMIM:616938
Li-Campeau Syndrome	Long philtrum, Patellar hypoplasia, Patent foramen ovale, Ventricular septal defect, Atrial septa...	OMIM:619189
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul...	OMIM:607941
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia	OMIM:614832
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Perimembranous ventricular septal...	OMIM:611376
Tyshchenko Syndrome	High, narrow palate, Narrow palate, Intrauterine growth retardation, Ventricular septal defect, A...	OMIM:615102
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Clinodactyly, Sandal gap, Broad hallux, 3-4 toe syndactyly, P...	OMIM:618727
Hadziselimovic Syndrome	Ventricular hypertrophy, Thick lower lip vermilion, Tetralogy of Fallot, Ventricular septal defec...	OMIM:612946
Chromosome 22Q11.2 Deletion Syndrome, Distal	Intrauterine growth retardation, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, S...	OMIM:611867
Acrodysostosis 1 With Or Without Hormone Resistance	Hypoplasia of the maxilla, Disproportionate short-limb short stature, Dental malocclusion, Delaye...	OMIM:101800
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
Abruzzo-Erickson Syndrome	Ulnar deviation of finger, Toe syndactyly, Short toe, Abnormal palate morphology, Radioulnar syno...	ORPHA:921
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Widely-spaced maxillary central incisors, Diastema, Thick lower lip vermilion, Clinodactyly, Post...	OMIM:301040
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Ventricular septa...	OMIM:613680
Recombinant Chromosome 8 Syndrome	Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l...	OMIM:179613
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Ventricular septal defect, Duplication of phalanx of hallux, Atrial se...	OMIM:263630
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Metaphyseal cupping, Dental malocclusion, Flared metaphysis, Short finger, Postnatal ...	OMIM:608940
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:616270
Frank-Ter Haar Syndrome	Micrognathia, Mitral valve prolapse, Ventricular septal defect, Bowing of the long bones, Promine...	OMIM:249420
8Q12 Microduplication Syndrome	Long philtrum, Narrow mouth, Ventricular septal defect, Everted lower lip vermilion, Atrial septa...	ORPHA:228399
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:615887
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620642
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Proxi...	OMIM:616202
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Dental malocclusion, Abnormal shoulder morphology, Intrau...	ORPHA:2115
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Clinodactyly, Patent foramen ovale, Camptodactyly, Syndactyly, Brachy...	ORPHA:88630
Blepharophimosis-Impaired Intellectual Development Syndrome	Short distal phalanx of finger, Dental malocclusion, Widely spaced teeth, Exaggerated cupid's bow...	OMIM:619293
Fanconi Anemia, Complementation Group S	Dental malocclusion, Clinodactyly, Thick upper lip vermilion, Macrodontia, Short stature, Narrow ...	OMIM:617883
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Reduced bone mineral density, Ventricular septal defect, Atrial sept...	OMIM:615279
Global Developmental Delay With Or Without Impaired Intellectual Development	Oligodontia, Thin upper lip vermilion, Ventricular septal defect, Atrial septal defect, Short sta...	OMIM:618330
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Cleft soft palate, Ulnar deviation of thumb, ...	OMIM:142900
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati...	OMIM:220210
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Fifth finger distal phalanx clinodactyly, Multiple suture craniosynostosis, Broad secondary alveo...	ORPHA:3369
Zimmermann-Laband Syndrome	Bifid uvula, Overtubulated long bones, Micrognathia, Wide mouth, Supernumerary tooth, Joint hyper...	ORPHA:3473
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo...	OMIM:157980
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Faciocardiomelic Syndrome	Osteopenia, Dental malocclusion, Slender long bone, Long philtrum, Hyperplasia of the maxilla, Mi...	OMIM:612731
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus...	ORPHA:2476
Congenital Gerbode Defect	Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent...	ORPHA:99095
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Downturned corners of mouth, Ventricular septal defect, Ectopic anus, Aplasia/Hypoplasia of the d...	ORPHA:94066
Filippi Syndrome	2-4 toe syndactyly, Finger clinodactyly, Postnatal growth retardation, Intrauterine growth retard...	OMIM:272440
Myopathy, Myofibrillar, 8	Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, Joint hypermobility, Achi...	OMIM:617258
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Microcolon, Total absence of the pericardium, Hypoplastic tricuspid valve, Cer...	OMIM:600001
Burn-Mckeown Syndrome	Bifid uvula, Cleft upper lip, Narrow mouth, Ventricular septal defect, 2-3 toe syndactyly, Atrial...	OMIM:608572
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Atrial septal defect, Thick vermilion border, Short stature, Pulmoni...	OMIM:618499
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Abnormal heart morphology, Death in infancy, Neonatal death, Hypoplasi...	OMIM:613390
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Carious teeth, Postnatal growth retardation, Intrauterine growth retardati...	ORPHA:93324
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Narrow mouth, Thin vermilion border, Atrial septal defect, Short stature, Incisor ...	OMIM:615502
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Abnormality of the dentition, Long philtrum, Ventricular septal defect, Smooth philtrum, Atrial s...	ORPHA:261190
Van Maldergem Syndrome 1	Osteopenia, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, Clinodac...	OMIM:601390
Robinow Syndrome	Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of permanent teeth, Vent...	ORPHA:97360
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno...	ORPHA:137888
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Holt-Oram Syndrome	Hypoplastic left heart, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ...	ORPHA:392
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Intrauterine growth retardation, Bicuspid aortic valve, Atrial septal defect, Short stature, Grow...	OMIM:617744
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Postaxial foot polydactyly, Bicuspid aortic valve, Atrial septal defect, ...	OMIM:615981
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
White Forelock With Malformations	Finger syndactyly, Abnormal palate morphology, Joint hypermobility, Deep philtrum, Atrial septal ...	ORPHA:2475
Zechi-Ceide Syndrome	Short distal phalanx of finger, Cleft lip, Downturned corners of mouth, Sandal gap, Abnormal hear...	ORPHA:217017
Sclerosteosis 1	Tooth malposition, Abnormal pelvic girdle bone morphology, Dental malocclusion, Deviation of fing...	OMIM:269500
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening, Camptodactyly	OMIM:608257
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Transposition of...	ORPHA:1913
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Abnormality of the dentition, Dental malocclusion, Thick lower lip vermilion, Micrognathia, Malar...	ORPHA:85321
Ellis-Van Creveld Syndrome	Neonatal short-limb short stature, Postaxial foot polydactyly, Disproportionate short-limb short ...	OMIM:225500
Robinow Syndrome, Autosomal Dominant 3	Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Broad thumb, Clinodac...	OMIM:616894
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Genu valgum, Joint hypermobility, Arachnodactyly, Atrial septal defect, Short stature...	ORPHA:1035
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent...	OMIM:615996
Li-Ghorbani-Weisz-Hubshman Syndrome	Downturned corners of mouth, Overlapping toe, Ventricular septal defect, Atrial septal defect, Th...	OMIM:618974
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Ventricular septal def...	OMIM:300373
Short Stature And Facioauriculothoracic Malformations	Cleft upper lip, Cervical ribs, Proportionate short stature, Ventricular septal defect, High pala...	OMIM:609654
3C Syndrome	Aortic valve stenosis, Finger syndactyly, Postnatal growth retardation, Abnormal mitral valve mor...	ORPHA:7
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Intrauterine growth retardation, Overlapping toe, Overlapping fingers, Vent...	OMIM:618142
Short Stature, Developmental Delay, And Congenital Heart Defects	Proportionate short stature, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Stuve-Wiedemann Syndrome 2	Intrauterine growth retardation, Neonatal death, Bowing of the long bones, Death in adolescence, ...	OMIM:619751
Short Syndrome	Dental malocclusion, Downturned corners of mouth, Delayed eruption of teeth, Clinodactyly, Slende...	OMIM:269880
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Overlapping toe, Ventricular septal defect, Bicuspid aortic valve, Broad phalanx, Hi...	ORPHA:508498
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Joint stiffness, Ventricular septal defect, Joint hypermobility, Sh...	OMIM:620210
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Bifid uvula, Absent thumb, Submucous cleft hard palate, Atrial septal defect, Pulmonic stenosis	OMIM:619239
20P12.3 Microdeletion Syndrome	Broad thumb, Long philtrum, Narrow mouth, Atrial septal defect, Short stature, Broad hallux phalanx	ORPHA:261295
Progeria-Short Stature-Pigmented Nevi Syndrome	Bifid uvula, Osteopenia, Short distal phalanx of finger, Dental malocclusion, Selective tooth age...	ORPHA:2959
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Genu valgum, Hypophosphatemic rickets, Coxa valga, Short stature, Hypoplasia of te...	OMIM:613312
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion, Clinodactyly, Down-sloping shoulders, Tape...	OMIM:615560
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Cranial hyperostosis, Osteopetrosis, Short stature, Diaphyseal sclerosis	OMIM:259730
Van Maldergem Syndrome 2	Osteopenia, Hypoplasia of the maxilla, Cutaneous syndactyly of toes, Dental malocclusion, Downtur...	OMIM:615546
Aase-Smith Syndrome I	Slender finger, Open mouth, Death in infancy, Ventricular septal defect, Flexion contracture, Cle...	OMIM:147800
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Even-Plus Syndrome	Severe short stature, Epiphyseal dysplasia, Dysplasia of the femoral head, Patent foramen ovale, ...	OMIM:616854
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca...	OMIM:619371
Rhizomelic Limb Shortening With Dysmorphic Features	Short 5th finger, Rhizomelia, Prominent fingertip pads, Long philtrum, Short thumb, Patent forame...	OMIM:618821
17Q12 Microduplication Syndrome	Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Atrial septal defect, Cleft palate	ORPHA:261272
Joubert Syndrome 18	Intrauterine growth retardation, Trident pelvis, Ventricular septal defect, Bowing of the long bo...	OMIM:614815
Noonan Syndrome 4	Dental malocclusion, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect...	OMIM:610733
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Tetralogy of Fallot, Joint stiffness, Abnormal hip bone morphology, Abnormal lowe...	ORPHA:1166
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Narrow mouth, Patellar aplasia, Dysplastic patella, Arachnodactyly, Dislocated radi...	OMIM:265000
Insulin-Like Growth Factor I, Resistance To	Severe short stature, Small hand, Clinodactyly, Long philtrum, Short finger, Sandal gap, Radial d...	OMIM:270450
Chromosome 5Q12 Deletion Syndrome	Long philtrum, Postnatal growth retardation, Patent foramen ovale, Ventricular septal defect, Lon...	OMIM:615668
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot,...	ORPHA:2008
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Long philtrum, Tetralogy of Fallot, Atrial septal defect, Sh...	OMIM:300887
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Dental malocclusion, Contractures of the large joints, Micrognathia, Thin upper lip v...	ORPHA:329178
Lujan-Fryns Syndrome	Abnormality of the dentition, Dental crowding, Camptodactyly of finger, Joint hypermobility, Arac...	ORPHA:776
Al-Raqad Syndrome	Sandal gap, Narrow mouth, Joint hypermobility, Thin upper lip vermilion, Brachydactyly, Atrial se...	OMIM:616459
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Clinodactyly of the 3rd toe, Downturned corners of mouth, Oligodactyly, Intrauterine growth retar...	ORPHA:521308
Genitopalatocardiac Syndrome	Cleft upper lip, Ventricular septal defect, Transposition of the great arteries, Double outlet ri...	OMIM:231060
Fetal Alcohol Syndrome	Intrauterine growth retardation, Joint stiffness, Microdontia, Thin upper lip vermilion, Smooth p...	ORPHA:1915
Ogden Syndrome	Everted upper lip vermilion, Thick upper lip vermilion, Postnatal growth retardation, Ventricular...	OMIM:300855
Rubinstein-Taybi Syndrome 1	Broad thumb, Postnatal growth retardation, Hypoplastic iliac wing, Narrow mouth, Mitral valve pro...	OMIM:180849
Coffin-Siris Syndrome 6	High, narrow palate, Clinodactyly, Deep philtrum, Atrial septal defect, Brachydactyly, Short stat...	OMIM:617808
Frontoocular Syndrome	Coronal craniosynostosis, Narrow mouth, Narrow philtrum, Atrial septal defect, High palate, Pulmo...	OMIM:605321
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Narrow palate, Hypoplasia of the maxilla, Joint contracture of the hand, Dental malocc...	OMIM:182212
Al Kaissi Syndrome	High, narrow palate, Small hand, Clinodactyly, Long philtrum, Postnatal growth retardation, Intra...	OMIM:617694
Turnpenny-Fry Syndrome	Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Mitral valve prolapse, Atrial septal def...	OMIM:618371
Meckel Syndrome, Type 4	Intrauterine growth retardation, Ventricular septal defect, Bowing of the long bones, Atrial sept...	OMIM:611134
Cri-Du-Chat Syndrome	Bifid uvula, Microretrognathia, Downturned corners of mouth, Thick lower lip vermilion, Short phi...	OMIM:123450
Cerebellar-Facial-Dental Syndrome	Severe short stature, Macrodontia of permanent maxillary central incisor, Infancy onset short-tru...	ORPHA:444072
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal de...	OMIM:235750
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Congenital contracture, Abnormal heart morphology, Narrow mouth, J...	ORPHA:352490
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Short 5th finger, Prominent fingertip pads, Long philtrum, Abnormal heart mo...	ORPHA:485405
Takenouchi-Kosaki Syndrome	Dental malocclusion, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Clinodactyl...	OMIM:616737
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Prominent fingertip pads, Long philtrum, Anteriorly placed anus, Abnormal he...	OMIM:618494
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Cleft palate, Fused ...	OMIM:214300
Fibrochondrogenesis 1	Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Nar...	OMIM:228520
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Carious teeth, Downturned corners of mouth, Multiple muscular ventricular septal defects, Death i...	OMIM:620070
Suleiman-El-Hattab Syndrome	Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Clinodactyly, Patent foram...	OMIM:618950
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial...	ORPHA:216694
Hajdu-Cheney Syndrome	Osteopenia, Foot acroosteolysis, Dental malocclusion, Long philtrum, Dislocated radial head, Path...	OMIM:102500
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short 5th finger, Short distal phalanx of finger, Downturned corners of mouth, Long philtrum, Thi...	OMIM:220500
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Thin ribs, Decreased number of sternal ossification centers, ...	OMIM:234100
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te...	OMIM:618067
Myopathy, Centronuclear, X-Linked	Dental malocclusion, Arachnodactyly, Slender toe, High palate, Flexion contracture	OMIM:310400
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral triphalangeal thumbs, Short distal phalanx of finger, Narrow mouth, Open mouth, Microdo...	OMIM:619356
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Long philtrum, Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, ...	ORPHA:75389
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de...	ORPHA:1120
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Short distal phalanx of finger, Intrauterine growth retardation, Joint stiff...	ORPHA:2516
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Broad thumb, Long philtrum, Intrauterine growth retardation, Overlapping toe, Ventricular septal ...	OMIM:617452
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Small hand, Prominent fingertip pads, Long philtrum, Anteriorly placed anus,...	OMIM:612863
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Smoot...	OMIM:618652
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Abnormal tibia morphology, Micrognathia, Genu valgum, Mitral valve prol...	ORPHA:666
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Bro...	OMIM:175700
Tarp Syndrome	Rocker bottom foot, Meckel diverticulum, Clinodactyly, Tetralogy of Fallot, Intrauterine growth r...	OMIM:311900
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Dental malocclusion, Proportionate short stature, Down-sloping shoulders, Deep phi...	OMIM:227330
Congenital Myopathy 17	Dental malocclusion, Clinodactyly, Long philtrum, Overlapping toe, Overlapping fingers, Tented up...	OMIM:618975
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Reduced bone mineral density, Atrial septal defect, Long philtrum	ORPHA:466926
Pycnodysostosis	Aplastic clavicle, Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of...	OMIM:265800
Cardioacrofacial Dysplasia 2	Conical tooth, Postaxial foot polydactyly, Atrioventricular canal defect, Genu valgum, Tented upp...	OMIM:619143
3P25.3 Microdeletion Syndrome	High, narrow palate, Broad thumb, Downturned corners of mouth, Broad hallux, Proximal placement o...	ORPHA:435638
Diprosopus	Cleft palate, Non-midline cleft of the upper lip, Abnormal cardiac septum morphology	ORPHA:1681
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Clinodactyly, Patent foramen ovale, Ventricular septal defect, At...	OMIM:614261
Alazami Syndrome	Slender long bone, Widely spaced teeth, Postnatal growth retardation, Atrial septal defect, Thick...	ORPHA:319671
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Long philtrum, Monkey wrench femoral neck, Genu valgum, Limited e...	OMIM:618870
Schwartz-Jampel Syndrome	Pursed lips, Micrognathia, Narrow mouth, Genu valgum, Hip contracture, Bowing of the long bones, ...	ORPHA:800
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Toe syndactyly, Broad thumb, Long philtrum, Intrauterine growth retardation, Overlapping toe, Ven...	ORPHA:505237
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Long philtrum, Genu valgum, Joint ...	OMIM:619721
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial cardiac fibrosis, Bicuspid a...	OMIM:613426
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Postnatal growth retardation, Intrauterine growth retardation, Microdontia, ...	ORPHA:2728
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Long philtrum, Tetralogy of Fallot, Intestinal malrotation, Overlapping t...	OMIM:618316
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Cleft soft palate, Smooth philtrum, Esophageal atresia, Atrial septal defect, Brachy...	OMIM:614526
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Congenital Heart Defects, Multiple Types, 3	Abnormal heart morphology, Tetralogy of Fallot, Atrial septal defect	OMIM:614954
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Osteopenia, Dental malocclusion, Hypertrophic cardiomyopathy, Open ...	OMIM:115150
Hypomandibular Faciocranial Dysostosis	Aglossia, Coronal craniosynostosis, Atrial septal defect, Pursed lips	OMIM:241310
Warsaw Breakage Syndrome	Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth retardation, Ventricular s...	OMIM:613398
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Short distal phalanx of finger, Cleft palate, Ventricular septal defect	OMIM:601355
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb shortening, Shor...	ORPHA:2347
Cerebrocostomandibular Syndrome	Carious teeth, Postnatal growth retardation, Cleft soft palate, Ventricular septal defect, Short ...	OMIM:117650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Open bite, Open mouth, Ventricular...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Open bite, Open mouth, Ventricular...	ORPHA:352665
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Growth delay, Atrial septal defect	OMIM:620211
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Ventricular septal defect, Atrial s...	OMIM:620663
Contractural Arachnodactyly, Congenital	Osteopenia, Ulnar deviation of finger, Elbow flexion contracture, Limited elbow extension, Mitral...	OMIM:121050
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Postaxial foot polydactyly, Finger syndactyly, Tetralogy of Fallot, Tarsa...	ORPHA:2473
Laubry-Pezzi Syndrome	Patent foramen ovale, Aortic valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Le...	ORPHA:99094
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Hypertrophic cardiomyop...	ORPHA:1842
Atelis Syndrome 1	Carious teeth, Long philtrum, Ventricular septal defect, Atrial septal defect, High palate	OMIM:620184
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Bicuspid aortic valve, Atrial septal defect, High palate, Prominent...	OMIM:612474
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Total anomalous pulmonary venous return, Dental malocclusion, Downturned corners of mouth, Long p...	ORPHA:487796
Coffin-Siris Syndrome 7	Downturned corners of mouth, Thick lower lip vermilion, Patent foramen ovale, Ventricular septal ...	OMIM:618027
Braddock-Carey Syndrome 1	Small hand, Clinodactyly, Anteriorly placed anus, Aortic valve prolapse, Ventricular septal defec...	OMIM:619980
Trisomy 13	High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Long p...	ORPHA:3378
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Protruding tongue, Dea...	OMIM:612938
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Long philtrum, Narrow mouth, Patent foramen ovale, Mitral valve prolapse, Arachn...	OMIM:615539
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Tracheomalacia, Camptodactyly of finger, Cutaneous finger syndactyly,...	ORPHA:896
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Abnormal cardiac septum morphology, Neonatal death	OMIM:601612
Congenital Myopathy 11	Atrial septal defect, Patent foramen ovale	OMIM:619967
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Atrial septal defect, Ventricular septal defect	ORPHA:49827
Diamond-Blackfan Anemia 7	Osteopenia, Secundum atrial septal defect, Short thumb, Tetralogy of Fallot, Intrauterine growth ...	OMIM:612562
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Postnatal growth retardation, Intrauterine growth retardatio...	ORPHA:83617
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megacolon, Atrial...	OMIM:613870
Microphthalmia, Syndromic 2	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Contracture of the proxi...	OMIM:300166
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect, Intrauterine growth retardation, Cleft soft palate, Thin upper lip...	OMIM:620183
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Downturned corners of mouth, Sandal gap, Intestinal malrotation, ...	OMIM:617602
Thanatophoric Dysplasia	Abnormal ilium morphology, Disproportionate short-limb short stature, Intrauterine growth retarda...	ORPHA:2655
Aortic Valve Disease 3	Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect	OMIM:618496
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Downturned corners of mouth, Intestinal malrotation, Ventricular septal defect, Thin upper lip ve...	ORPHA:457193
Lissencephaly Syndrome, Norman-Roberts Type	Intrauterine growth retardation, Patent foramen ovale, Adducted thumb, Atrial septal defect, Rock...	ORPHA:89844
Cardiomyopathy, Dilated, 2J	Dilated cardiomyopathy, Secundum atrial septal defect	OMIM:620635
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Postnatal growth retardation, Intrauterine growth retardation, Noncompact...	OMIM:610198
Kapur-Toriello Syndrome	Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, Intestinal ...	OMIM:244300
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Joint hypermobility, Atrial septal defect, Short stature, Reduced bone mineral density, Recurrent...	OMIM:619115
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Short st...	OMIM:249270
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Thick lower lip vermilion, Thick upper lip vermilion, Open mouth, Joint hypermobility, Atrial sep...	OMIM:611087
Achondrogenesis, Type Ii	Disproportionate short-limb short stature, Long philtrum, Broad long bones, Short tubular bones o...	OMIM:200610
Localized Scleroderma	Abnormality of the dentition, Abnormal facial skeleton morphology, Dental malocclusion, Sclerosis...	ORPHA:90289
Congenital Rubella Syndrome	Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Short stature, ...	ORPHA:290
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect	OMIM:618901
Spondyloenchondrodysplasia	Hypoplastic ilia, Short distal phalanx of finger, Dental malocclusion, Delayed eruption of teeth,...	ORPHA:1855
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Slender finger, Broad thumb, Downturned corners of mouth, Diastema, Patent foramen ovale, Ventric...	ORPHA:329224
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Open mouth, Ventricular septal defect, Arachnodactyly, Joint hypermobility, Atrial septal defect,...	OMIM:301039
Phelan-Mcdermid Syndrome	Dental malocclusion, Long philtrum, Widely spaced teeth, Micrognathia, Malar flattening, Ventricu...	OMIM:606232
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Ventricular septal defect, B...	OMIM:271640
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Arthrogryposis multiplex congenita, Finger syndactyly, Long philtrum, Sandal ga...	ORPHA:254346
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Long philtrum, Thick lower lip vermilion, Tented upper lip vermilion, Patent foramen ovale, Thin ...	OMIM:620075
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Postnatal growth retardation, Intrauterine growth retardation, Patent foramen ovale, Ventricular ...	OMIM:620113
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Dental malocclusion, Retrognathia, Diastema, Tracheomalacia, Micrognathia,...	ORPHA:96121
Trisomy X	Joint hypermobility, Ventricular septal defect, Atrial septal defect, Hip dysplasia, Clinodactyly...	ORPHA:3375
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Cleft lip, Clinodactyly, Biventricular hypertrophy, Coronary artery fistu...	OMIM:619343
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Bifid uvula, Secundum atrial septal defect, Downturned corners of mouth, Long philtrum, Hypertrop...	OMIM:619121
Chromosome 6Pter-P24 Deletion Syndrome	Dental crowding, Cleft upper lip, Tetralogy of Fallot, Abnormal dental morphology, Narrow mouth, ...	OMIM:612582
Tetrasomy 15Q26	Intrauterine growth retardation, Arachnodactyly, Atrial septal defect, Camptodactyly, High palate	OMIM:614846
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna, Endocardial fibroelastosis, Neonatal death	OMIM:276822
17Q23.1Q23.2 Microdeletion Syndrome	Shallow acetabular fossae, Limitation of joint mobility, Congenital contracture, Sandal gap, Wide...	ORPHA:261279
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Short st...	OMIM:608747
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malrotation, Dextrotransposi...	OMIM:619657
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Emanuel Syndrome	Aortic valve stenosis, Tooth malposition, Bifid uvula, Submucous cleft lip, Dental crowding, Dela...	ORPHA:96170
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Arthrogryposis-like hand anomaly, Downturned corners of mouth, Clinodactyly, Widely spaced teeth,...	ORPHA:369891
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Narrow mouth, Mitral valve prolapse, Bicuspid aortic valve, Rad...	OMIM:245600
Diamond-Blackfan Anemia 4	Short stature, Growth delay, Atrial septal defect	OMIM:612527
Teebi Hypertelorism Syndrome 1	Coronal craniosynostosis, Small hand, Natal tooth, Dental crowding, Long philtrum, Ventricular se...	OMIM:145420
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Toe syndactyly, Broad thumb, Downturned corners of mouth, Long philtrum, Narrow mouth, Open mouth...	OMIM:619720
Elsahy-Waters Syndrome	Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil...	OMIM:211380
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Short lower limbs, Secundum atrial septal defect, Abnormal fibular epi...	ORPHA:96190
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Short thumb	OMIM:609054
Buratti-Harel Syndrome	Bifid uvula, Broad thumb, Velopharyngeal insufficiency, Broad hallux, Submucous cleft hard palate...	OMIM:619314
Wiedemann-Steiner Syndrome	Short 5th finger, Small hand, Short toe, Long philtrum, Postnatal growth retardation, Intrauterin...	OMIM:605130
Barber-Say Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien...	OMIM:209885
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Tetralogy of Fallot, Abnormal pericardium morphology, Abnormal ...	ORPHA:1335
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Downturned corners of mouth, Clinodactyly, Thick upper lip vermilion, Intrauterine growth retarda...	OMIM:617360
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Right Atrial Isomerism	Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at...	OMIM:208530
Ellis Van Creveld Syndrome	Synostosis of carpal bones, Genu valgum, Ventricular septal defect, Atrial septal defect, Dextroc...	ORPHA:289
Distal 22Q11.2 Microdeletion Syndrome	Toe syndactyly, Ankyloglossia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Bowing of...	ORPHA:261330
Mandibulofacial Dysostosis, Guion-Almeida Type	Slender finger, Preaxial hand polydactyly, Ventricular septal defect, Deep philtrum, Esophageal a...	OMIM:610536
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Abnormal...	ORPHA:261183
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Tented upper lip vermilion, Open mouth, Joint hypermobility, Atrial septal defect, Wide mouth	ORPHA:500533
Emanuel Syndrome	Aortic valve stenosis, Congenital hip dislocation, Dental crowding, Long philtrum, Intestinal mal...	OMIM:609029
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Sandal gap, Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventricular septal de...	ORPHA:477817
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Atrioventricular canal defect, Postnatal growth retardation, Short first me...	OMIM:619135
Fumarase Deficiency	Perimembranous ventricular septal defect, Necrotizing enterocolitis, High palate	OMIM:606812
Nephrotic Syndrome, Type 11	Cleft lip, Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Ventricula...	OMIM:616730
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Clubbing of toes, Tetralogy of Fallot, Thin upper lip vermilion, 2-3 toe syndactyly, Overriding a...	ORPHA:3304
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	2-3 toe cutaneous syndactyly, Secundum atrial septal defect, Postnatal growth retardation, Thin u...	OMIM:620242
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Open bite, Ankyloglos...	ORPHA:1507
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect	OMIM:614475
Transaldolase Deficiency	Intrauterine growth retardation, Patent foramen ovale, Ventricular septal defect, Deep philtrum, ...	OMIM:606003
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Schuurs-Hoeijmakers Syndrome	Downturned corners of mouth, Volvulus, Diastema, Patent foramen ovale, Thin upper lip vermilion, ...	OMIM:615009
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Osteolysis involving tarsal bones, Increased susceptibility to fra...	ORPHA:371428
16P13.11 Microdeletion Syndrome	Cleft upper lip, Camptodactyly of finger, Metatarsus valgus, Exaggerated cupid's bow, Ventricular...	ORPHA:261236
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Broad hallux, Tented upper lip vermilion, Aganglionic megacolon, Atrial septal def...	OMIM:614749
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Sandal gap, Long philtrum, Oligodontia, Thin upper lip vermilion, Ventricular se...	OMIM:617061
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Deep philtrum, S...	OMIM:615879
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Bifid uvula, Mitral stenosis, Submucous cleft hard...	OMIM:617660
Sifrim-Hitz-Weiss Syndrome	Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect, Short clavic...	OMIM:617159
Bent Bone Dysplasia Syndrome 2	Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ili...	OMIM:620076
Mandibulofacial Dysostosis-Microcephaly Syndrome	Preaxial hand polydactyly, Atrial septal defect, Short stature, Cleft palate, Accessory oral fren...	ORPHA:79113
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Atrial septal defect	OMIM:620247
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Disproportionate short-trunk short stature,...	ORPHA:457395
Stevenson-Carey Syndrome	Joint contracture of the hand, Downturned corners of mouth, Narrow mouth, Atrial septal defect, H...	OMIM:611961
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Small hand, Toe syndactyly, Ventricular septal defect, Limited elbow movement, Bicuspid aortic va...	OMIM:610759
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Ventricular septal defect, Bicusp...	ORPHA:353281
Cockayne Syndrome A	Carious teeth, Dental malocclusion, Limitation of joint mobility, Square pelvis bone, Hypoplastic...	OMIM:216400
Megalencephaly	Genu valgum, Atrial septal defect	ORPHA:2477
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Narrow palate, Hypoplasia of the maxilla, Coronal craniosynostosis, ...	OMIM:614188
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Broad thumb, Dental crowding, Open mouth, Ventricular septal defect, Thin upper lip vermilion, Sh...	OMIM:309520
Bohring-Opitz Syndrome	Short toe, Cleft upper lip, Dislocated radial head, Intestinal malrotation, Intrauterine growth r...	OMIM:605039
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Death in infancy, Atrial septal defe...	ORPHA:1790
Martin-Probst Syndrome	Dental malocclusion, Thick lower lip vermilion, Micrognathia, Malar flattening, Short stature, Wi...	OMIM:300519
Agnathia-Otocephaly Complex	Microglossia, Secundum atrial septal defect, Tracheomalacia, Aglossia, Situs inversus totalis, Na...	OMIM:202650
Schneckenbecken Dysplasia	Hypoplastic scapulae, Disproportionate short-limb short stature, Stillbirth, Advanced tarsal ossi...	OMIM:269250
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Short thumb, Overlapping toe, Arachnodactyly, Radioulnar synostosis, Wrist f...	ORPHA:436003
Cole-Carpenter Syndrome 2	Thin ribs, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Microretrognathia, Osteopenia,...	OMIM:616294
Au-Kline Syndrome	Bifid uvula, Dental malocclusion, Downturned corners of mouth, Retrognathia, Overlapping toe, Ope...	OMIM:616580
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Bifid uvula, Toe syndactyly, Downturned corners of mouth, Absence of the p...	OMIM:601808
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Small hand, Widely spaced teeth, Camptodactyly, Sagittal craniosynostosis,...	ORPHA:459061
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di...	ORPHA:3282
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Intrauterine growth retardation, Death in infancy, Ventricul...	OMIM:614576
Heterotaxy, Visceral, 7, Autosomal	Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Intestina...	OMIM:616749
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticul...	OMIM:115470
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Long philtrum, Intrauterine growth retardation, Abnormal mitral valve morphology, Atrial septal d...	ORPHA:1292
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Ventricular septal defect, Abnormal...	ORPHA:251014
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Thick upper lip vermilion, Postnatal growth retardation, Hypopla...	OMIM:611717
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Prominent fingertip pads, Thick vermilion border, Mitral valve prolapse, Joint hypermobility, Ara...	OMIM:300986
Intellectual Developmental Disorder, X-Linked, Syndromic 35	2-3 toe cutaneous syndactyly, Cutaneous syndactyly of toes, Dental crowding, Contracture of the p...	OMIM:300998
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Postnatal growth retardation, Mic...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Postnatal growth retardation, Mic...	ORPHA:353277
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp...	OMIM:613854
Formiminoglutamic Aciduria	Atrial septal defect	ORPHA:51208
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Prune Belly Syndrome	Congenital hip dislocation, Volvulus, Tetralogy of Fallot, Intestinal malrotation, Ventricular se...	ORPHA:2970
Cockayne Syndrome B	Severe short stature, Carious teeth, Dental malocclusion, Limitation of joint mobility, Square pe...	OMIM:133540
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Postnatal growth retardation, Hypoplastic i...	OMIM:210720
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Limitation of joint mobility, Postnatal growth retardation, Hypoplastic ili...	OMIM:223800
3Mc Syndrome 1	Lambdoidal craniosynostosis, Coronal craniosynostosis, Short 5th finger, Cleft lip, Dental crowdi...	OMIM:257920
Coffin-Siris Syndrome 4	Short 5th finger, Everted upper lip vermilion, Long philtrum, Thick lower lip vermilion, Mitral a...	OMIM:614609
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N...	OMIM:235510
Chromosome 10Q26 Deletion Syndrome	2-3 toe cutaneous syndactyly, Congenital hip dislocation, Toe syndactyly, Prominent fingertip pad...	OMIM:609625
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Tarsal synostosis, Patellar...	OMIM:147891
Fanconi Anemia, Complementation Group I	Absent thumb, Short 1st metacarpal, Short thumb, Intrauterine growth retardation, Patent foramen ...	OMIM:609053
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Osteopenia, Long philtrum, Abnormal heart valve morphology, Gingival overg...	ORPHA:363705
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Mccune-Albright Syndrome	Abnormal facial skeleton morphology, Dental malocclusion, Aneurysmal bone cyst, Osteomalacia, Mon...	ORPHA:562
Recombinant 8 Syndrome	Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Camptodactyly of fing...	ORPHA:96167
Koolen-De Vries Syndrome	Narrow palate, Slender finger, Prominent fingertip pads, Cleft upper lip, Widely spaced teeth, In...	OMIM:610443
Loeys-Dietz Syndrome 5	Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Patent foramen ovale, Ventricular sep...	OMIM:615582
Carpenter Syndrome 2	Carious teeth, Broad thumb, Cutaneous finger syndactyly, Atrial septal defect, Dextrocardia, High...	OMIM:614976
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Long philtrum, Postnatal growth retardation, Intrauterine growth retardation, Left ventricular hy...	OMIM:620510
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Postn...	OMIM:200990
Meacham Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Death in childhood, Death in infan...	OMIM:608978
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, Cleft upper lip, 11 pairs of ribs, Median cleft palate, Complete atri...	OMIM:264480
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Broad thumb, Secundum atrial septal defect, Clinodactyly, Long hallux, Hallux valgus,...	OMIM:620194
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Patent foramen ovale	OMIM:617182
Timothy Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Thin upper li...	OMIM:601005
Cardiac-Valvular Ehlers-Danlos Syndrome	Dental crowding, Sandal gap, Abnormal heart valve morphology, Recurrent shoulder dislocation, Gen...	ORPHA:230851
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Neonatal death, Short foot, Short t...	OMIM:269860
Orofaciodigital Syndrome Iv	Toe syndactyly, Lobulated tongue, Short tibia, Clinodactyly, Hamartoma of tongue, Short finger, P...	OMIM:258860
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Ventricular septal defect, Left ventricular hypertrophy, Atrial sept...	OMIM:615355
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Clinodactyly, Open mouth, Patent foramen ovale, Transposition of the great arteries, Everted lowe...	OMIM:616789
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fallot, Cervical ribs, Fibular aplas...	ORPHA:3320
Fg Syndrome Type 1	Finger syndactyly, Clinodactyly of the 2nd finger, Open mouth, Mitral valve prolapse, Progressive...	ORPHA:93932
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Clinodactyly, Intrauterine growth retardation, Narrow mouth, Ventricular septal defec...	OMIM:614114
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Tetralogy of Fallot, ...	ORPHA:210122
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Abnormality of the dentition, Osteomyelitis, Joint hypermobility, Atrial septal defect, High pala...	OMIM:618282
Distal Xq28 Microduplication Syndrome	Dental crowding, Clinodactyly, Thick lower lip vermilion, Open mouth, Short lingual frenulum, Pat...	ORPHA:293939
Coffin-Lowry Syndrome	Narrow palate, Bifid sternum, Dental malocclusion, Thick lower lip vermilion, Widely spaced teeth...	OMIM:303600
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion	ORPHA:83601
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Flexion contracture, Arthrogryposis multiplex congenita, Patent foramen ovale, Multiple prenatal ...	OMIM:616867
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Intrauterine growth retardation, Atrial septal defect, Joint contracture, Short statu...	OMIM:618005
Noonan Syndrome 13	Clinodactyly, Long philtrum, Widely spaced teeth, Overlapping toe, Limited elbow extension, Mitra...	OMIM:619087
Orofaciodigital Syndrome V	Bifid uvula, Postaxial foot polydactyly, Sandal gap, Tetralogy of Fallot, Ankyloglossia, Hamartom...	OMIM:174300
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Atrial septal defect, Mitral stenosis, Mitral atresia	ORPHA:2248
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Atrial septal defect, Flat acetab...	OMIM:250220
Meier-Gorlin Syndrome 7	Narrow mouth, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Atrial septal defect,...	OMIM:617063
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventr...	ORPHA:457279
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Osteopenia, Downturned corners of mouth, Abnormal heart morphology, Atrioventricular...	ORPHA:453499
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Fanconi Anemia, Complementation Group Q	Absent thumb, Anteriorly placed anus, Esophageal atresia, Short stature, Growth delay, Primum atr...	OMIM:615272
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone o...	OMIM:618162
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Zaki Syndrome	Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Median pseudocleft lip, Hypoplasia ...	OMIM:619648
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th...	OMIM:613751
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Dental malocclusion, Clinodactyly of the 2nd finger, Long philtrum, Micrognathia, Cli...	ORPHA:73223
Mosaic Trisomy 9	Tessier cleft, Limitation of joint mobility, Finger clinodactyly, Camptodactyly of finger, Abnorm...	ORPHA:99776
Proximal 16P11.2 Microdeletion Syndrome	Abnormal heart morphology, Abnormal aortic valve morphology, Rib fusion, Hand polydactyly, Atrial...	ORPHA:261197
Thanatophoric Dysplasia Type 2	Limitation of joint mobility, Joint hypermobility, Brachydactyly, Atrial septal defect, Short sta...	ORPHA:93274
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Ventricular septal defect, Hiatus hernia, Atrial s...	OMIM:619769
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Delayed...	ORPHA:289157
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal rib morphology, Broad ribs, Short ribs, Ventricular septal defect, Atrial septal defect,...	ORPHA:2519
Primary Pulmonary Hypoplasia	Secundum atrial septal defect, Patellar hypoplasia, Intrauterine growth retardation, Dextrocardia...	ORPHA:2257
Craniofacioskeletal Syndrome	Small hand, Intrauterine growth retardation, Ventricular septal defect, Thin upper lip vermilion,...	OMIM:300712
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Abnormal heart morphology, Open mouth, Patent foramen ovale, Ventricular septal...	ORPHA:500159
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, High palate, Atrial septal defect, Short philtrum	OMIM:618354
Noonan Syndrome 1	High, narrow palate, Dental malocclusion, Clinodactyly, Radial deviation of finger, Hypertrophic ...	OMIM:163950
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome

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