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Gene: Nsd2 MGI:1276574

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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:
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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Abnormality of the philtrum, Abnormal he... ORPHA:280
Rauch-Steindl Syndrome
Short stature, Miscarriage, Postnatal growth retardation, Thin vermilion border, Short philtrum, ... OMIM:619695

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ... OMIM:144750
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Brachydactyly, Short stature, Abnormality of the dentition, Dental maloccl... ORPHA:1858
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Craniosynostosis 3
Hallux valgus, Right unicoronal synostosis, Sagittal craniosynostosis, Dental malocclusion, Left ... OMIM:615314
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Upper limb phocomelia, Abnormal heart morphology, Abnormal cardiac sept... ORPHA:294975
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor... ORPHA:1354
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Short stature, Ventricular septal defect, B... OMIM:600987
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... OMIM:620135
Catel-Manzke Syndrome
Short stature, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Joint stiff... ORPHA:1388
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion, High palate, Mild short... OMIM:618292
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Short stature, Hand polydactyly, Everted lower lip vermilion, Pulmonic... OMIM:249670
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Cupped ribs, Metaphy... OMIM:608940
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Feingold Syndrome 2
Ventricular septal defect, Short stature, Postnatal growth retardation, Short middle phalanx of t... OMIM:614326
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Thin upper lip vermilion, 11 pairs of ribs, Dental crowding, Short stature, Sandal ga... OMIM:617877
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... OMIM:614669
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Short stature, Micrognathia, Carious teeth, Talon cusp, Dental malocclu... OMIM:613684
Eng-Strom Syndrome
Ventricular septal defect, Short stature, Camptodactyly of finger, Arthritis, Abnormal cardiac se... ORPHA:1937
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate OMIM:261800
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Mulibrey Nanism
Dental crowding, Short stature, Cardiomegaly, Absent frontal sinuses, Enamel hypoplasia, Hypoplas... OMIM:253250
Trichothiodystrophy 9, Nonphotosensitive
Joint laxity, High, narrow palate, Dental malocclusion, Brachydactyly OMIM:619692
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Delayed eruption of teeth, Short stature, Camptodacty... OMIM:612350
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Tongue fasciculations, Death in childhood OMIM:253300
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Short stature, Widely spaced teeth, Dental malocclusion OMIM:616108
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Sonoda Syndrome
Ventricular septal defect, Short stature, Narrow mouth OMIM:270460
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Short distal phalanx of finger OMIM:155050
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Dental malocclusion, Short first metatarsal, Thick vermilion ... OMIM:601957
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Growth delay, Short foot, Aplasia... ORPHA:52056
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Dental Ankylosis
Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel morphology, Mandibular pro... ORPHA:1077
Sandestig-Stefanova Syndrome
Rocker bottom foot, Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricul... OMIM:618804
Intermediate Osteopetrosis
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... ORPHA:210110
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h... OMIM:602483
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Short stature, Dental malocclusion OMIM:615541
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Perimembranous ventricular septal defect, Protein-losing enteropathy, Camptodac... OMIM:608104
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velophary... ORPHA:363444
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular... OMIM:619489
Snijders Blok-Campeau Syndrome
Joint laxity, Taurodontia, High palate, Widely spaced teeth, Perimembranous ventricular septal de... OMIM:618205
Potocki-Lupski Syndrome
Mandibular prognathia, Short stature, Dental crowding, Micrognathia, Dental malocclusion, Wide mo... OMIM:610883
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Arachnodactyly, Short stature, Cleft palate, Narrow mouth, Atrial septal defect ORPHA:93946
Mcdonough Syndrome
Mandibular prognathia, Short stature, Micrognathia, Open bite, Dental malocclusion, Short philtru... ORPHA:2471
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Open bite, Dental mal... ORPHA:61
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges... OMIM:602849
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Cleft palate, Abnormal heart morphology, Intrauterin... OMIM:600252
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Short stature, Sandal gap, High, narrow palate, Dilated cardiomyopathy... ORPHA:2515
Long Qt Syndrome 16
Perimembranous ventricular septal defect OMIM:618782
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Jejunal atresia, Short stature, Short thumb, Short mid... ORPHA:391646
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short stature, Short metatarsal, Atrial septal defect, Short 4th metacarpal, Type E brachydactyly OMIM:113301
White Forelock With Malformations
Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:277740
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Seckel Syndrome 1
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, High pal... OMIM:210600
Chromosome 9P Deletion Syndrome
Long toe, Thin upper lip vermilion, Ventricular septal defect, Sandal gap, Hallux varus, Tapered ... OMIM:158170
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Mandibular prognathia, Toe syndactyly, Short stature, Camptodactyly of finger, Ope... ORPHA:1327
Three M Syndrome 2
Delayed eruption of teeth, Severe short stature, Short stature, Dental malocclusion, Thin ribs, S... OMIM:612921
Frontometaphyseal Dysplasia 1
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee... OMIM:305620
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ... OMIM:190350
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Atrial septal defect, Bicuspid aortic valve, Dental malocclusion, Pulmo... OMIM:619149
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Short stature, Abnormal dental morphology, Open bite, Dental malocclusion,... ORPHA:3079
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl... OMIM:619719
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Short stature, Micrognathia, Diastema, Dental malocclusion, Malar flattening, Brachydactyly ORPHA:436245
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... OMIM:608227
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion OMIM:608931
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle... OMIM:615297
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Ventricular septal defect, High palate, Cleft palate OMIM:615731
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... ORPHA:763
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Mandibular prognathia, Postnatal growth retardation, Thick lower lip vermilion, Wide mouth, Thick... OMIM:309545
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Short stature, Dental crowding, Fifth finger distal ... OMIM:257850
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Cleft upper lip, Short thumb,... OMIM:612561
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Arthrogryposis, Distal, Type 1C
Pursed lips, Hip contracture, Short stature, Shoulder flexion contracture, Rocker bottom foot, Ca... OMIM:619110
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Narrow mouth, Atrial septal defect,... ORPHA:3469
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal heart valve morphology, Short stature, Joint stiffness, Cleft... ORPHA:577
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Short st... ORPHA:2980
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Kabuki Syndrome 2
Joint laxity, Natal tooth, Atrial septal defect, Short stature, Micrognathia, Postnatal growth re... OMIM:300867
Holzgreve Syndrome
Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip OMIM:236110
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Short stature, Cleft soft p... OMIM:616331
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Abnormal heart morphology, Sh... ORPHA:254525
16P13.11 Microduplication Syndrome
Arachnodactyly, Ventricular septal defect, Craniosynostosis, Joint hyperflexibility, Hand polydac... ORPHA:261243
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Overlapping fingers, Short stature, Protruding tongue, Secundum atrial septal d... OMIM:608779
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ... ORPHA:251028
Brachydactyly, Type E2
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy... OMIM:613382
Hamamy Syndrome
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Atrial septal defect, Long... OMIM:611174
Halperin-Birk Syndrome
Flexion contracture, Hip dislocation, Perimembranous ventricular septal defect, Thick vermilion b... OMIM:618651
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Temple-Baraitser Syndrome
Broad hallux, Proximal placement of thumb, Adducted thumb, Downturned corners of mouth, Wide mout... OMIM:611816
Larsen-Like Syndrome
Joint laxity, Short stature, Dental malocclusion, Cleft palate, Radial deviation of the 4th finge... OMIM:608545
Combined Oxidative Phosphorylation Deficiency 17
Death in infancy, Postnatal growth retardation, Death in childhood, Intrauterine growth retardati... OMIM:615440
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Thin upper lip vermilion, Limited elbow extension and supination, Brachydactyly, Ve... ORPHA:401935
Oliver Syndrome
Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flex... ORPHA:2920
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Dental crowding, Joint stiffness, Postnatal growth retard... OMIM:619184
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Short stature, Dental crowding, Limited elbow movement, Joint stiffness, Micro... OMIM:614008
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft palate, Neonata... OMIM:615524
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Perimembranous ventricular septal defect, Pulmo... OMIM:611376
Coffin-Siris Syndrome 5
Thin upper lip vermilion, Short stature, Arachnodactyly, Sandal gap, Thick lower lip vermilion, W... OMIM:616938
Hadziselimovic Syndrome
Ventricular hypertrophy, Short stature, Ventricular septal defect, Thick lower lip vermilion, Hig... OMIM:612946
Li-Campeau Syndrome
Ventricular septal defect, Short stature, Patellar hypoplasia, Long philtrum, Atrial septal defec... OMIM:619189
Tyshchenko Syndrome
Short stature, Ventricular septal defect, High, narrow palate, Cleft palate, Narrow palate, High ... OMIM:615102
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Protruding tongue, Diastema, Postnatal growth retardation, Clinodactyl... OMIM:301040
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Momo Syndrome
Delayed eruption of teeth, Short stature, Thick lower lip vermilion, Dental malocclusion, Femoral... ORPHA:2563
Abruzzo-Erickson Syndrome
Toe syndactyly, Short stature, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar syn... ORPHA:921
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Short stature, Cleft palate, Intrauterine growth retardation, Truncus a... OMIM:611867
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... OMIM:263630
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo... OMIM:618727
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Mild postnatal... OMIM:101800
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Postnatal grow... OMIM:179613
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malo... OMIM:613680
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
8Q12 Microduplication Syndrome
Ventricular septal defect, Narrow mouth, Short foot, Everted lower lip vermilion, Long philtrum, ... ORPHA:228399
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Frank-Ter Haar Syndrome
Osteopenia, Micrognathia, Secundum atrial septal defect, High palate, Short palm, Atrial septal d... OMIM:249420
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Short stature, Accessory oral frenulum, Flexion contracture, Osteolysis involving bon... ORPHA:88630
Cerebellofaciodental Syndrome
Short stature, Ventricular septal defect, Tapered finger, Dental malocclusion, Shortening of all ... OMIM:616202
Blepharophimosis-Impaired Intellectual Development Syndrome
Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Tapered finger, Flexion contract... OMIM:619293
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Short stature, Ventricular septal defect, Oligodontia, Atrial septal de... OMIM:618330
Cardiofaciocutaneous Syndrome 3
Short stature, Ventricular septal defect, Reduced bone mineral density, Wide mouth, Pulmonic sten... OMIM:615279
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Missing ribs, Double outlet right ventricle, Cleft palate,... OMIM:220210
Fanconi Anemia, Complementation Group S
Short stature, Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Clin... OMIM:617883
Harrod Syndrome
Arachnodactyly, Dental malocclusion, Abnormal shoulder morphology, Joint hyperflexibility, Abnorm... ORPHA:2115
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal gro... ORPHA:3369
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Zimmermann-Laband Syndrome
Hallux valgus, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Growth del... ORPHA:3473
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... OMIM:157980
Heart Defects, Congenital, And Other Congenital Anomalies
Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... OMIM:600001
Faciocardiomelic Syndrome
Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypopl... OMIM:612731
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypopl... ORPHA:94066
Burn-Mckeown Syndrome
Short stature, Ventricular septal defect, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Thin... OMIM:608572
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Isolated Osteopoikilosis
Syndactyly, Increased bone mineral density, Abnormally ossified vertebrae, Abnormal pelvis bone m... ORPHA:166119
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
15Q14 Microdeletion Syndrome
Short stature, Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philt... ORPHA:261190
Noonan Syndrome 11
Short stature, Thick vermilion border, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... OMIM:618499
Intellectual Developmental Disorder, Autosomal Dominant 21
Short stature, Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Atrial septal de... OMIM:615502
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Fanconi Anemia, Complementation Group O
Death in infancy, Short stature, Miscarriage, Proximal placement of thumb, Absent thumb, Short th... OMIM:613390
White Forelock With Malformations
Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly o... ORPHA:2475
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Carious teeth, ... ORPHA:93324
Zechi-Ceide Syndrome
Sandal gap, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morphology, Downturned corn... ORPHA:217017
Holt-Oram Syndrome
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... ORPHA:392
Filippi Syndrome
Ventricular septal defect, Postnatal growth retardation, 2-4 toe syndactyly, Cutaneous syndactyly... OMIM:272440
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Short fourth metatarsal, Irregular dentition, Tented upper lip vermilio... OMIM:601390
Robinow Syndrome
Dental crowding, Micrognathia, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Fu... ORPHA:97360
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Short stature, Growth delay, Atrial septal defect, Intrauterine growth ret... OMIM:617744
Beta-Mercaptolactate Cysteine Disulfiduria
Arachnodactyly, Short stature, Sandal gap, Genu valgum, Joint hyperflexibility, High palate, Atri... ORPHA:1035
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Myopathy, Myofibrillar, 8
Micrognathia, Distal joint laxity, Achilles tendon contracture, Dental malocclusion, High palate,... OMIM:617258
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand OMIM:608257
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... OMIM:615981
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... OMIM:615996
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Overlapping toe, Downturned corners of mouth, Thick vermilion border, ... OMIM:618974
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Sclerotic scapulae, Malar flattening, 2-3 finger syndactyly, D... OMIM:269500
3C Syndrome
High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Atrial septal defect, ... ORPHA:7
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Short stature, Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malo... ORPHA:85321
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Downturned corners of mouth, Clinodactyly of the 5th finger, Clinodacty... ORPHA:521308
Short Syndrome
Joint laxity, Enlarged epiphyses, Delayed eruption of teeth, Micrognathia, Dental malocclusion, B... OMIM:269880
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Short stature, Hypoplastic right heart, Ventricular septal defect, Micrognathia, Clef... OMIM:616894
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... OMIM:300373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Generalized joint laxity, Hypermobility of interphalangeal joints, Short p... ORPHA:508498
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxi... OMIM:618142
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Proportionate short stature OMIM:617044
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Proportionate short stature, Cleft upper lip, Cleft palate, High palat... OMIM:609654
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Short stature, Narrow mouth, Atrial septal defect, Broad thumb, Long philtrum ORPHA:261295
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula OMIM:619239
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Short stature, Joint stiffness, Postnatal growth retardation, Cleft pa... OMIM:620210
Hypophosphatemic Rickets, Autosomal Recessive, 2
Short stature, Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Pulmonic stenosis, Hy... OMIM:613312
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camptodactyly, Neona... OMIM:619751
Even-Plus Syndrome
Epiphyseal dysplasia, Severe short stature, Dysplasia of the femoral head, High palate, Hypodonti... OMIM:616854
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Broad ha... OMIM:300963
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Multiple joint contractures, Short stature, Selective tooth agenesis, Micrognathia, F... ORPHA:2959
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect ORPHA:261272
Osteopetrosis, Autosomal Recessive 3
Short stature, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis OMIM:259730
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Short thumb, Limited shoulder movement, Shor... OMIM:618821
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Severe short stature, Short stature, Ventricular septal defect, Sandal ... OMIM:270450
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect, Flexion contracture, Cleft palate, Open mouth, Slend... OMIM:147800
Van Maldergem Syndrome 2
Osteopenia, Joint laxity, Short fourth metatarsal, Tented upper lip vermilion, Irregular dentitio... OMIM:615546
Noonan Syndrome 4
Short stature, Ventricular septal defect, Dental malocclusion, Wide mouth, Thick vermilion border... OMIM:610733
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Cl... OMIM:615560
Joubert Syndrome 18
Joint laxity, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Postaxial poly... OMIM:614815
Rubinstein-Taybi Syndrome 1
Dental crowding, High, narrow palate, Flexion contracture, High palate, Hypoplastic iliac wing, A... OMIM:180849
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Short stature, Sandal gap, Long philtrum, Atrial septal defect, Tetralog... OMIM:300887
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Short stature, Ventricular septal defect, Joint stiffness, Cleft palate, Tooth agenesis, Abnormal... ORPHA:1166
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Downtur... OMIM:265000
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di... OMIM:619371
Lujan-Fryns Syndrome
Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Joint hyp... ORPHA:776
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Mitral stenosis, Ventricular ... ORPHA:2008
Chromosome 5Q12 Deletion Syndrome
Long toe, Ventricular septal defect, Postnatal growth retardation, Long fingers, Wide mouth, Macr... OMIM:615668
Al-Raqad Syndrome
Joint laxity, Thin upper lip vermilion, Sandal gap, Narrow mouth, Atrial septal defect, Brachydac... OMIM:616459
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, D... OMIM:300855
Fetal Alcohol Syndrome
Thin upper lip vermilion, Atrial septal defect, Short stature, Joint stiffness, Non-midline cleft... ORPHA:1915
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractu... ORPHA:329178
Frontoocular Syndrome
Narrow philtrum, High palate, Pulmonic stenosis, Narrow mouth, Atrial septal defect, Coronal cran... OMIM:605321
Coffin-Siris Syndrome 6
Short stature, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Atrial septal de... OMIM:617808
Al Kaissi Syndrome
Thin upper lip vermilion, Macrodontia, Short stature, Postnatal growth retardation, High, narrow ... OMIM:617694
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Cleft palate, Transposition of the great arteries, Do... OMIM:231060
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Arachnodactyly, Craniosynostosis, Micrognathia, Metatarsus adductus, Hy... OMIM:182212
Meckel Syndrome, Type 4
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Cleft palate, At... OMIM:611134
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Prominent fingertip pads, Tapered finger, High, narrow palate, 2-3 toe syndactyly,... ORPHA:485405
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Ventricular septal defect, Polysyndactyly of hallux, Aganglionic megac... OMIM:235750
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Autism Spectrum Disorder Due To Auts2 Deficiency
Short stature, Abnormal heart morphology, Congenital contracture, Short philtrum, Joint contractu... ORPHA:352490
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, R... OMIM:228520
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Short stature, Abnormality of the humerus, Preaxial hand polydactyly, ... ORPHA:3098
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Short stature, Rocker bottom foot, Tapered finger, Carious teeth, Pericardial e... OMIM:620070
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Prominent fingertip pads, Ventricular septal defect, Overlapping toe, H... OMIM:618494
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft upper lip, Cleft palate, Fused cervical vertebrae, Cervical C2/C... OMIM:214300
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Ventricular septal defect, Thick lower lip vermilion, Downturned corner... OMIM:618950
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Metatarsus adductus, Thick lower lip vermilion, ... OMIM:123450
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thin upper lip vermilion, Ventricular septal defect, Thick lower lip vermilion, Long thumb, Gingi... OMIM:220500
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Atrial septal defect, Delayed eruption of permanent teeth, Narrow mo... OMIM:619356
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Downturned corners of mouth, W... OMIM:618067
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Short stature, Ventricular septal defect, Micrognathia, Absent frontal ... OMIM:102500
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Short stature, Ventricular septal defect, Postaxial hand polydactyly, Everted lower lip vermilion... ORPHA:75389
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Ventricula... ORPHA:444072
Takenouchi-Kosaki Syndrome
Thin upper lip vermilion, Overlapping toe, Proximal placement of thumb, Tapered finger, Dental ma... OMIM:616737
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, ... ORPHA:1120
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... OMIM:618371
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Short stature, Ventricular septal defect, Overlapping toe, Tapered fing... OMIM:617452
Myopathy, Centronuclear, X-Linked
Arachnodactyly, Flexion contracture, Dental malocclusion, Slender toe, High palate OMIM:310400
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, Prominent fingertip pads, Sandal gap, High, narrow palate, Submucous cl... OMIM:612863
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the radius, Tetralogy of Fallot, Cleft p... OMIM:311900
Hallermann-Streiff Syndrome
Natal tooth, Selective tooth agenesis, Proportionate short stature, Micrognathia, High, narrow pa... OMIM:234100
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Broad hallux, Proximal placement of thumb, T... ORPHA:435638
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Joint stiffness, High, narrow palate, Cleft palate, Intrauterine growt... ORPHA:2516
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Downturned corners of mouth, Atrial septal defect, Paten... OMIM:618652
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Reduced bone mineral density, Overlapping toe, Long philtrum ORPHA:466926
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Micrognathia, Abnormal tibia morphology, Flexion contrac... ORPHA:666
Cardioacrofacial Dysplasia 2
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common atrium, Deep philtrum,... OMIM:619143
Alazami Syndrome
Postnatal growth retardation, Wide mouth, Slender long bone, Thick vermilion border, Short philtr... ORPHA:319671
Pycnodysostosis
Increased bone mineral density, Short stature, Aplastic clavicle, Micrognathia, Absent frontal si... OMIM:265800
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Short stature, Ventricular septal defect, Cleft palate, Atrial septal defect, Clin... OMIM:614261
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Postnatal growth retardation, Cleft palate, Hypoplasia of teeth, Widely spa... ORPHA:2728
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Down-sloping shoulders, Proportionate short stature, Metatarsus add... OMIM:227330
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Pursed lips, Coronal craniosynostosis, Aglossia OMIM:241310
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... OMIM:613426
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Dental malocc... OMIM:618975
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Thin upper lip vermilion, Hyperextensibility of the finger joints, Toe syndactyly, Short stature,... ORPHA:505237
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Clinodactyly of th... OMIM:117650
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate ORPHA:1681
Schwartz-Jampel Syndrome
Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Pursed lips, Increased bone mine... ORPHA:800
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, A... OMIM:201000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Widely spaced teeth, High palate, Atrial septal defect, Microdontia, Promi... OMIM:612474
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Parachute mi... OMIM:618316
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint laxity, Ventricular septal defect, Short stature, Monkey wrench femoral neck, Limited elbow... OMIM:618870
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Joint laxity, Prominent fingertip pads, Bicuspid aortic valve, Short stature, Arachnodactyly, Tap... OMIM:619721
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology OMIM:601612
Atelis Syndrome 1
Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect OMIM:620184
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Atrial septal defect, Short stature, Abnorma... OMIM:115150
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology OMIM:614954
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Atrial septal defect, Short stature OMIM:620211
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Abnormal thumb morphology, Abnormal femur morphology, Joint hy... ORPHA:1842
Warsaw Breakage Syndrome
Ventricular septal defect, Postnatal growth retardation, 2-3 toe syndactyly, Wide mouth, High pal... OMIM:613398
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Cleft palate, Short distal phalanx of finger OMIM:601355
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Atrial septal defect, Broad thumb, Smooth philtrum, Brachy... OMIM:614526
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Bicuspid aortic valve, High, narrow palate, Downturned corners of mouth, Atrial septa... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Bicuspid aortic valve, High, narrow palate, Downturned corners of mouth, Atrial septa... ORPHA:352665
Trisomy 13
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P... ORPHA:3378
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Arachnodactyly, Overlapping toe, Postnatal growth retardation, Pyloric stenosis, Contracture of t... ORPHA:83617
Contractural Arachnodactyly, Congenital
Osteopenia, Hip contracture, Bowing of the long bones, Bicuspid aortic valve, Ventricular septal ... OMIM:121050
Mckusick-Kaufman Syndrome
Finger syndactyly, Aganglionic megacolon, Short stature, Ventricular septal defect, Tarsal synost... ORPHA:2473
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick ... OMIM:612938
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Clinodactyly, Pierre-Robin sequence, Small hand... OMIM:619980
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Short stature, Bicuspid aortic valve, Ventricular septal defect, Sagitt... OMIM:618027
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, Tracheomalacia, Joint stiffness, Abnormal fi... ORPHA:896
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Intestinal malrotation, Short stature, Ventricular septal defect, Carious teeth,... OMIM:617602
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Flexion contracture, Interphala... OMIM:613870
Congenital Myopathy 11
Atrial septal defect, Patent foramen ovale OMIM:619967
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Short stature ORPHA:49827
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Overlapping toe, Proximal placement of thum... ORPHA:487796
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Thin upper lip vermilion, Short stature, Intestinal malrotation, Ventricular septal defect, Crani... ORPHA:457193
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Dental crowding, Arachnodactyly, Narrow mouth, Mitral valve prolapse, High palate, ... OMIM:615539
Diamond-Blackfan Anemia 7
Osteopenia, Ventricular septal defect, Secundum atrial septal defect, Short thumb, Osteoporosis, ... OMIM:612562
Kapur-Toriello Syndrome
Overlapping fingers, Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, ... OMIM:244300
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Pierre-Robin sequence... OMIM:620183
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Atrial septal defect, Intrauterine growth retardation, Patent foramen ovale, ... ORPHA:89844
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short stature, Ventricular septal defect, Proximal placement of thumb, Clinodactyly of the 5th to... OMIM:620113
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Joint laxity, Thick lower lip vermilion, Wide mouth, Atrial septal defect, Open mouth, Thick uppe... OMIM:611087
Thanatophoric Dysplasia
Joint stiffness, Abnormal sacroiliac joint morphology, Joint hyperflexibility, Hip dysplasia, Dis... ORPHA:2655
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Postnatal growth retardation, Dilated cardiomyopathy, Atrial septal... OMIM:610198
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Short stature, Recurrent fractures, Reduced bone mineral density, Atrial septal defect, Joint hyp... OMIM:619115
Congenital Rubella Syndrome
Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine growth retardation, ... ORPHA:290
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Tented upper lip vermilion, Thick lower lip vermilion, Wide mouth, Ever... OMIM:620075
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect... OMIM:300166
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Atrial septal d... OMIM:249270
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Broad long bones, Short tubular bones of the hand, Hypoplas... OMIM:200610
Phelan-Mcdermid Syndrome
Ventricular septal defect, Micrognathia, Dental malocclusion, 2-3 toe syndactyly, High palate, Wi... OMIM:606232
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Cleft lip, Complete atrioventricular canal defe... OMIM:619343
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ... ORPHA:1855
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphy... OMIM:271640
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Craniosyn... ORPHA:254346
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Diastema, Slender fin... ORPHA:329224
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Atrial septal defect, Short stature, Short lingual frenulum, Craniosyno... ORPHA:96121
Tetrasomy 15Q26
Arachnodactyly, High palate, Camptodactyly, Atrial septal defect, Intrauterine growth retardation OMIM:614846
17Q23.1Q23.2 Microdeletion Syndrome
Long toe, Coxa magna, Short stature, Sandal gap, Long fingers, Limitation of joint mobility, Pate... ORPHA:261279
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Thin upper lip vermilion, Proximal placement of thumb, Secundum atrial septal defect, 2-3 toe syn... OMIM:619121
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Aplasia of the ulna, Hand oligodactyly, Endocardial fibroelastosis OMIM:276822
Diamond-Blackfan Anemia 4
Growth delay, Atrial septal defect, Short stature OMIM:612527
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Clinodactyly of the 5th fi... OMIM:608747
Emanuel Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Dental crowding, Truncus arteriosus, Ventr... ORPHA:96170
Localized Scleroderma
Abnormality of the dentition, Flexion contracture, Dental malocclusion, Abnormal facial skeleton ... ORPHA:90289
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Wiedemann-Steiner Syndrome
Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Short stature, Tapered finger, P... OMIM:605130
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Dental crowding, Short stature, Ventricular septal defect,... OMIM:145420
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Joint laxity, Tented upper lip vermilion, Exaggerated cupid's bow, Bicuspid aortic valve, Toe syn... OMIM:619720
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Toe syndactyly, Short stature, Intestinal malrotation, Ventricular septal d... OMIM:619657
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Joint laxity, Ventricular septal defect, Arachnodactyly, Short philtrum, Camptodactyly, Atrial se... OMIM:301039
Buratti-Harel Syndrome
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Clinodactyl... OMIM:619314
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Atrial septal defect, Short lingual frenulum, Short stature, Ventricula... OMIM:617360
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Rhizomelic arm shortening, Short lower limbs, Abnormal fibular epi... ORPHA:96190
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Short stature, Ventricular septal defect, Clinodactyly, Abnormal heart morphology, Do... ORPHA:369891
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Broad toe, Tented upper lip vermilion, Dental crowding, Ventricular septal defect, ... OMIM:612582
Nephrotic Syndrome, Type 11
Ventricular septal defect, Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Dilat... OMIM:616730
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Cardiomegaly, Shoulder dislocation, Atrial septal defect, Micr... OMIM:245600
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Conical incisor, Atrial septal defect, Microdontia, Atrioventric... ORPHA:289
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... OMIM:142900
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Joint laxity, Tented upper lip vermilion, Wide mouth, Atrial septal defect, Open mouth ORPHA:500533
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Pentalogy Of Cantrell
Ventricular septal defect, Abnormal pericardium morphology, Non-midline cleft lip, Abnormal tibia... ORPHA:1335
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Intestinal malrotation, Delayed eruption of primary ... OMIM:609029
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Short stat... ORPHA:261330
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Short thumb, Intrauterine growth retardation OMIM:609054
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... OMIM:209885
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Thin upper lip vermilion, Postnatal growth retardation, Secundum atrial septal defect, 2-3 toe cu... OMIM:620242
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, 2-3 toe syndactyly, Clubbing of toes, Clubbing of fin... ORPHA:3304
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Joint laxity, Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular sept... ORPHA:477817
Mandibulofacial Dysostosis, Guion-Almeida Type
Short stature, Ventricular septal defect, Proximal placement of thumb, Esophageal atresia, Deep p... OMIM:610536
Ritscher-Schinzel Syndrome 3
Thin upper lip vermilion, Hypoplasia of the ulna, Death in infancy, Postnatal growth retardation,... OMIM:619135
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Abnorma... ORPHA:1507
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... OMIM:211380
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Short stature, Ventricular septal defect, Clef... ORPHA:261236
Fumarase Deficiency
Necrotizing enterocolitis, Perimembranous ventricular septal defect, High palate OMIM:606812
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hallux, Cleft palate, Sho... OMIM:614749
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Transaldolase Deficiency
Ventricular septal defect, Deep philtrum, Wide mouth, Thin vermilion border, Short philtrum, Atri... OMIM:606003
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
3Mc Syndrome 1
Dental crowding, Ventricular septal defect, Single interphalangeal crease of fifth finger, Cleft ... OMIM:257920
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Ventricular septal defect, Bicuspid aortic valve, Osteolysis involving bones of the u... ORPHA:371428
Sifrim-Hitz-Weiss Syndrome
Short stature, Ventricular septal defect, Tapered finger, Flat acetabular roof, Anteriorly placed... OMIM:617159
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... ORPHA:457395
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Limited elbow movement, Proximal placement of thumb, Downturned corners of... OMIM:610759
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Sandal gap, Tapered finger,... OMIM:617061
Bent Bone Dysplasia Syndrome 2
Osteopenia, Bowed humerus, Short tibia, Ulnar bowing, Hypoplastic acetabulae, Femoral bowing, Thi... OMIM:620076
Stevenson-Carey Syndrome
Pierre-Robin sequence, Downturned corners of mouth, Hip dysplasia, Narrow mouth, Atrial septal de... OMIM:611961
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Downturned corners of mouth, Wide mout... OMIM:615009
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Accessory oral frenulum, Preaxial hand polydactyly, Cleft palate, Atrial septal de... ORPHA:79113
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Thin upper lip vermilion, Hyperextensibility of the finger joints, Dental crowding,... OMIM:309520
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Sagittal cranios... OMIM:615879
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Submucous cleft hard palate, Aortic valve stenosis, Hypoplastic left heart, Atrial... OMIM:617660
Megalencephaly
Atrial septal defect, Genu valgum ORPHA:2477
Bohring-Opitz Syndrome
Bilateral cleft palate, Syndactyly, Short stature, Intestinal malrotation, Ventricular septal def... OMIM:605039
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Sandal gap, Short stature, Tarsal synostosis, Wide capital femoral epiphyses, Flat c... OMIM:147891
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
Hypomandibular Faciocranial Dysostosis
Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Narrow mouth,... ORPHA:1790
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Sagittal craniosynostosis, Small hand, Cleft palate, Widely spaced teeth, Camptoda... ORPHA:459061
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Overlapping toe, Metatarsus adductus, High, narrow palate, Short thumb, Abnormal ... ORPHA:436003
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Short distal phalanx of toe, Short stature, Abnormal mitral valve morphology, Symphalangism affec... ORPHA:1292
Chromosome 18Q Deletion Syndrome
Joint laxity, Thin upper lip vermilion, Toe syndactyly, Short stature, Absence of the pulmonary v... OMIM:601808
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Ventricular septal defect, Postaxial polydactyly, Esophageal varix, Growth dela... OMIM:614576
Holoprosencephaly 9
Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxia... OMIM:610829
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Cat Eye Syndrome
Anal stenosis, Short stature, Intestinal malrotation, Ventricular septal defect, Rectal fistula, ... OMIM:115470
Chromosome 10Q26 Deletion Syndrome
Thin upper lip vermilion, Prominent fingertip pads, Congenital hip dislocation, Short stature, To... OMIM:609625
Heterotaxy, Visceral, 7, Autosomal
Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Bicuspid aortic valve, Atrial septal defect, Joint laxity, Broad hallux, Short s... ORPHA:353281
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Short stature, Bicuspid aortic valve, Ventricular septal defect, Cardio... ORPHA:363705
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Narrow mouth, Trac... OMIM:202650
Au-Kline Syndrome
Overlapping toe, Craniosynostosis, Postaxial polydactyly, Sagittal craniosynostosis, Coxa valga, ... OMIM:616580
Prune Belly Syndrome
Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Abnormal rib morph... ORPHA:2970
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Absent thumb, Short thumb, Short 1st metacarpal, Hypopl... OMIM:609053
2Q31.1 Microdeletion Syndrome
Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, Clinodactyly o... ORPHA:251014
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Joint laxity, Prominent fingertip pads, Short stature, Arachnodactyly, Mitral valve prolapse, Wid... OMIM:300986
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition... ORPHA:96167
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Thin upper lip vermilion, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:300998
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finge... OMIM:235510
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Craniosynostosis And Dental Anomalies
Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Short stature, Sag... OMIM:614188
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... OMIM:223800
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Short stature, Ventricular septal defect, ... OMIM:614609
Martin-Probst Syndrome
Short stature, Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Malar fl... OMIM:300519
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Bicuspid aortic valve, Micrognathia, High palate, Atrial septal defect, Patent f... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Bicuspid aortic valve, Micrognathia, High palate, Atrial septal defect, Patent f... ORPHA:353277
Cockayne Syndrome A
Mandibular prognathia, Hip contracture, Short stature, Delayed eruption of primary teeth, Carious... OMIM:216400
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... OMIM:608978
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Snail-like ilia, Cleft pal... OMIM:269250
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... OMIM:200990
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... OMIM:614779
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ... OMIM:616294
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subp... ORPHA:289157
Koolen-De Vries Syndrome
Prominent fingertip pads, Vertebral fusion, Short stature, Bicuspid aortic valve, Ventricular sep... OMIM:610443
Mccune-Albright Syndrome
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ... ORPHA:562
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Dental crowding, Short stature, Abnormal heart valve morphology, Sandal gap, Recur... ORPHA:230851
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Short stature, Cleft soft palate, Eosinophilic infiltration of the es... OMIM:615582
Cockayne Syndrome B
Mandibular prognathia, Severe short stature, Delayed eruption of primary teeth, Postnatal growth ... OMIM:133540
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great a... OMIM:616789
Fg Syndrome Type 1
Dental crowding, Generalized joint laxity, Fused teeth, High palate, Atrial septal defect, Finger... ORPHA:93932
Noonan Syndrome 8
Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic c... OMIM:615355
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyl... OMIM:258860
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ... ORPHA:210122
Carpenter Syndrome 2
High, narrow palate, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Cutaneous finger ... OMIM:614976
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Patent foramen ovale OMIM:617182
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Patent foramen ovale, Hamartoma... OMIM:269860
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Short stature, Ventricular septal defect, Craniosynostosis, Subvalvular aortic stenos... OMIM:614114
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Abnormality of the dentition, High palate, Pulmonic stenosis, Atrial septal defect... OMIM:618282
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, Hallux valgus, Secundum atrial septal defect, High palate, Broad thumb, Clinodactyly,... OMIM:620194
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Microdon... OMIM:601005
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Short stature, Hip dislocation, High palate, Atrial septal defect, Intrauterine growt... OMIM:618005
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Short stature, Metatarsus adductus, Clinodactyly, Thick ... ORPHA:293939
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Zaki Syndrome
Toe syndactyly, Short stature, Long fingers, Wide mouth, Median pseudocleft lip, High palate, Sho... OMIM:619648
Noonan Syndrome 13
Joint laxity, Atrial septal defect, Overlapping toe, Tapered finger, Metatarsus adductus, Clinoda... OMIM:619087
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Ventricular septal defect, Ham... OMIM:174300
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ... OMIM:303600
Meier-Gorlin Syndrome 7
Bowing of the legs, Anteriorly placed anus, High palate, Atrial septal defect, Dislocated radial ... OMIM:617063
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... OMIM:250220
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... ORPHA:439
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Cleft palate, Fur... ORPHA:453499
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Patent fora... OMIM:616867
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia ORPHA:2248
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d... ORPHA:457279
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Noonan Syndrome 1
Short stature, Ventricular septal defect, Micrognathia, Postnatal growth retardation, High, narro... OMIM:163950
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Atrial s... OMIM:619769
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Fanconi Anemia, Complementation Group Q
Short stature, Absent thumb, Esophageal atresia, Primum atrial septal defect, Anteriorly placed a... OMIM:615272
Thanatophoric Dysplasia Type 2
Short stature, Limitation of joint mobility, Joint hyperflexibility, Atrial septal defect, Abnorm... ORPHA:93274
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventric... OMIM:264480
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Dental crowding, Deep philtrum, Macroglossia, Camptodactyly, High palate, Thick vermilion border,... ORPHA:397709
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Short stature, Ventricular septal defect, Small hand, Cleft palate, Sho... OMIM:300712
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Postaxial hand polydactyly, Abnormal rib morphology, Short ribs, Atria... ORPHA:2519
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Irregular epiphyses,... OMIM:618162
Noonan Syndrome 7
Short stature, Joint hypermobility, Growth delay, Thick vermilion border, Pulmonic stenosis, Atri... OMIM:613706
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Micrognathia, Dental malocclusion, Localized hypoplasia of dental ename... ORPHA:73223
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Craniosynostosis, Pyloric stenosis, Rib fusion, Cleft palate, Abnormal heart morpho... ORPHA:261197
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect, High palate, Short philtrum OMIM:618354
Noonan Syndrome 5
Short stature, Wide mouth, Thick vermilion border, Pulmonic stenosis, Atrial septal defect, Hyper... OMIM:611553
Distal Deletion 10Q
Thin upper lip vermilion, Prominent fingertip pads, Short stature, Sandal gap, Craniosynostosis, ... ORPHA:96148
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Ventricular septal defect, 2-3 toe syndactyly, Cleft palate, Furrowed... OMIM:616449
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Joint stiffness, Hypoplastic ilia, Abnormal sacroiliac joi... ORPHA:1860
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Tracheobronchomalacia, Abnormal h... ORPHA:500159
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Short sta... OMIM:600373
Down Syndrome
Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventricular canal defect, Patent f... OMIM:190685
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect OMIM:601927
20Q13.33 Microdeletion Syndrome
Hallux valgus, Tapered finger, Abnormal cardiac ventricle morphology, Abnormal limb bone morpholo... ORPHA:261311
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Tented upper lip vermilion, Overlapping toe, Flexion contracture, Thick vermilion border, High pa... OMIM:619383
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Contracture of the proximal interphalangeal joint of the 4th finge... OMIM:618109
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy ORPHA:101028
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Ventricular septal defect, Hypoplastic left atrium, Neonatal... OMIM:601186
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Short statur... ORPHA:261323
Intellectual Disability-Strabismus Syndrome
Short stature, Rocker bottom foot, Abnormality of the dentition, Achilles tendon contracture, Lim... ORPHA:363528
Mosaic Trisomy 9
Ventricular septal defect, Intestinal malrotation, Dextrocardia, Abnormal heart valve morphology,... ORPHA:99776
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Multiple prenatal fractures, Flexion contracture, Cardiomyopathy, ... OMIM:616866
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Smooth philtrum, Joint laxity, Short stature, Postaxial polydactyly, Abnormality of the dentition... OMIM:300968
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli... ORPHA:284984
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Intestinal malrotation, Tetralogy of Fallot, Abnormal heart morphology, At... ORPHA:2847
Myhre Syndrome
Short palm, Craniofacial hyperostosis, Brachydactyly, Severe short stature, Joint stiffness, Subm... ORPHA:2588
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxia... OMIM:263520
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Kagami-Ogata Syndrome
Ventricular septal defect, Coxa valga, Long fingers, Flexion contracture, Thin ribs, Pulmonic ste... OMIM:608149
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Short stature, Cleft palate, Sh... OMIM:614207
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, Broad hallux, Arachnodactyly, Dental malocclusion, High palate, Short finger, Malar... OMIM:601552
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ... OMIM:620366
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Flexion contracture, Humeroradial synostosis, F... OMIM:207410
Myhre Syndrome
Short philtrum, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Short... OMIM:139210
Larsen Syndrome
Joint laxity, Vertebral fusion, Short metacarpal, Short stature, Ventricular septal defect, Spatu... OMIM:150250
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Ventricular septal defect, Hip dysplasia, Atrial septal defect, Arthrogryposis ... OMIM:208085
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Narrow greater sciatic notch, Short palm, Atrial septal defect, Exaggerate... OMIM:312870
Genitopatellar Syndrome
Delayed eruption of teeth, Short palm, Hip contracture, Short stature, Hypoplastic ilia, Patellar... ORPHA:85201
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... OMIM:609945
Primary Pulmonary Hypoplasia
Dextrocardia, Secundum atrial septal defect, Cleft palate, Patellar hypoplasia, Intrauterine grow... ORPHA:2257
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Foot oligodactyly... OMIM:305600
Double Outlet Right Ventricle
Short stature, Intestinal malrotation, Ventricular septal defect, Submucous cleft hard palate, Do... ORPHA:3426
Alagille Syndrome
Hypoplasia of the ulna, Ventricular septal defect, Abnormal rib morphology, Short philtrum, Clino... ORPHA:52
Trisomy 18
Short stature, Ventricular septal defect, Camptodactyly of finger, Esophageal atresia, Non-midlin... ORPHA:3380
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atrial septal defec... OMIM:274000
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Tented upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect... ORPHA:464738
Rabson-Mendenhall Syndrome
Atrial septal defect, Dental crowding, Short stature, Ventricular septal defect, Abnormality of t... ORPHA:769
Tarp Syndrome
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Pierre-Robin sequence, Alveolar rid... ORPHA:2886
7Q31 Microdeletion Syndrome
Prominent fingertip pads, Postnatal growth retardation, Clinodactyly of the 2nd finger, Wide mout... ORPHA:251061
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Short stature, Ventricular septal defect, Dextrocardia, Cleft upper l... OMIM:614294
Cerebrocostomandibular Syndrome
Death in infancy, Short stature, Ventricular septal defect, Tracheomalacia, Posterior rib gap, Cl... ORPHA:1393
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Intrauterine growth retardation, Limb joint contracture, Patent foramen ovale OMIM:620327
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Cervical C2/C3 vertebral fusion, Osteoporosis, Atrial... OMIM:617190
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Disproportionate short stature, Coxa vara, Tooth agenesis, Narrow pelvis bo... ORPHA:2637
Orofaciodigital Syndrome Type 2
Finger clinodactyly, High palate, Short tibia, Atrioventricular canal defect, Finger syndactyly, ... ORPHA:2751
Tatton-Brown-Rahman Syndrome
Proportionate short stature, Deep philtrum, Short toe, Widely-spaced maxillary central incisors, ... ORPHA:404443
Oculodentodigital Dysplasia
Atrial septal defect, Selective tooth agenesis, Cleft upper lip, Carious teeth, Clinodactyly, 4-5... OMIM:164200
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Flexion contracture, High palate, Short philtrum, Death in childhood, Patent foramen ... OMIM:619127
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Joint laxity, Thin upper lip vermilion, Toe syndactyly, Short stature, Bicuspid aortic valve, Cra... OMIM:300707
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... ORPHA:1330
Mosaic Variegated Aneuploidy Syndrome 1
Short stature, Postnatal growth retardation, Cleft palate, Short sternum, Pulmonic stenosis, Long... OMIM:257300
Williams Syndrome
Osteopenia, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Clinodactyly of the 5th finger, Mi... ORPHA:904
White-Sutton Syndrome
Joint laxity, Short stature, Cleft palate, Downturned corners of mouth, Thin vermilion border, Sh... OMIM:616364
Boomerang Dysplasia
Severe short stature, Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia OMIM:112310
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, High palate, Coronary-pulmonary artery fistula OMIM:619699
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect OMIM:619909
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, High pa... OMIM:608670
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Transketolase Deficiency
Ventricular septal defect, Proportionate short stature, Abnormal heart morphology, Atrial septal ... ORPHA:488618
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse... ORPHA:536471
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Postaxial polydactyly, Knee flexion contracture OMIM:603387
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... OMIM:306955
Brachytelephalangic Chondrodysplasia Punctata
Calcaneal epiphyseal stippling, Ventricular septal defect, Proportionate short stature, Postnatal... ORPHA:79345
Distal Triplication 15Q
Arachnodactyly, Craniosynostosis, Flexion contracture, Abnormal heart morphology, High palate, Ca... ORPHA:314588
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Atrial septal defect, Horizontal ribs OMIM:614857
Noonan Syndrome 3
Short stature, Ventricular septal defect, Sagittal craniosynostosis, Left unilambdoid synostosis,... OMIM:609942
Catel-Manzke Syndrome
Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Joint laxity, Short metac... OMIM:616145
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Cardiomegaly, High, narrow palate, Abnormal finger m... ORPHA:3472
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Bicoronal synostosis, Everted upper lip vermilion, Sandal gap, Rocker bottom foot,... OMIM:619951
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Atrial septal defect, Hallux valgus, Dental crowding, Left ventricular noncompactio... OMIM:300967
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale, Death in childhood OMIM:614582
Congenital Heart Block
Pericardial effusion, Intrauterine growth retardation, Patent foramen ovale, Endocardial fibroela... ORPHA:60041
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Mosaic Trisomy 16
Syndactyly, Ventricular septal defect, Short thumb, Abnormal heart morphology, Anteriorly placed ... ORPHA:1708
Sotos Syndrome
Joint laxity, Atrial septal defect, Ventricular septal defect, High, narrow palate, Muscular vent... OMIM:117550
Van Esch-O'Driscoll Syndrome
Short stature, Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Downturn... OMIM:301030
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro... OMIM:619167
Omodysplasia 1
Short humerus, Ventricular septal defect, Rhizomelia, Increased fibular diameter, Limited knee fl... OMIM:258315
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous ... OMIM:617478
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Short stature... OMIM:613091
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... ORPHA:1512
Tetraamelia Syndrome 2
Ventricular septal defect, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankyloglossia OMIM:618021
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft upper lip, Split hand, Clubbing, Cleft palate, Growth delay, Dea... OMIM:600460
Fryns Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Prominent fingertip pads, Atrial septal ... OMIM:229850
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Downturned corners of mouth, Widely spaced teeth, Short philtrum, Atrial septal ... OMIM:301044
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Juvenile Polyposis Of Infancy
Short stature, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Abnormal hear... ORPHA:79076
Distal Deletion 6P
Abnormality of the dentition, Orofacial cleft, Downturned corners of mouth, Short foot, Short phi... ORPHA:96125
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Transposition of the great arteries, Toe clinodact... OMIM:619910
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Atrial septal defect, Phocomelia, Microgastria, Aplastic clavicle, Hi... ORPHA:2538
Cockayne Syndrome
Severe short stature, Abnormal dental morphology, Delayed eruption of primary teeth, Postnatal gr... ORPHA:191
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Wide mouth, Growth delay, Short foot, Median pseudocleft lip, Clin... OMIM:619758
Spondyloocular Syndrome
Osteopenia, Long toe, Duodenal ulcer, Short stature, Arachnodactyly, Abnormality of the dentition... OMIM:605822
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Deep philtrum, Flexion contracture, Tibial bowing, Short philtrum, Hy... ORPHA:96334
Developmental And Epileptic Encephalopathy 18
Atrial septal defect OMIM:615476
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion ORPHA:83601
Joubert Syndrome 3
Atrial septal defect, Open mouth OMIM:608629
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Growth delay, Atrial septal defect, Double outlet right ventricle, Abnormal cortic... OMIM:614886
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Long fingers, Velopharyngeal insufficienc... OMIM:617746
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Patent ... OMIM:616028
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect, Thin upper lip vermilion, Long philtrum OMIM:618665
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Growth delay, Macroglossia, Atrial septal defect, Short stature ORPHA:93947
Pontocerebellar Hypoplasia, Type 8
Tented upper lip vermilion, Ventricular septal defect, Joint stiffness, Arthrogryposis multiplex ... OMIM:614961
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Atrial septal defect, Short stature, Dextrocardia, Tracheoesophageal fi... OMIM:277380
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep philtrum, Short metata... OMIM:617137
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... OMIM:619702
Noonan Syndrome 2
Short stature, Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyo... OMIM:605275
Seckel Syndrome 9
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature OMIM:616777
Marshall-Smith Syndrome
Irregular dentition, Large sternal ossification centers, Distal widening of metacarpals, Coxa var... OMIM:602535
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, A... OMIM:304120
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Williams-Beuren Syndrome
Osteopenia, Bicuspid aortic valve, Flexion contracture, Atrial septal defect, Microdontia, Clinod... OMIM:194050
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Horizontal ribs, Cleft lip, Complete a... OMIM:617925
Lymphatic Malformation 13
Neonatal death, Long philtrum, Atrial septal defect, Patent foramen ovale, Smooth philtrum OMIM:620244
Noonan Syndrome 10
Short stature, Ventricular septal defect, Mitral valve prolapse, Hypertrophic cardiomyopathy, Hig... OMIM:616564
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Short stature, Intestinal malrotation, Vent... OMIM:244450
Diamond-Blackfan Anemia 21
Hallux valgus, Short stature, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial... OMIM:620072
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Ventricular septal defect, Pos... ORPHA:1465
Opitz Gbbb Syndrome
Natal tooth, Short stature, Ventricular septal defect, Tracheomalacia, Craniosynostosis, Cleft li... ORPHA:2745
Zttk Syndrome
Flexion contracture, Downturned corners of mouth, High palate, Short philtrum, Atrial septal defe... OMIM:617140
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Hi... OMIM:603457
Ring Chromosome 12 Syndrome
Syndactyly, Secundum atrial septal defect, High, narrow palate, Abnormal 5th finger morphology, G... ORPHA:1439
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Knee flexion contract... OMIM:210710
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Short stature, Overlapping toe, Cranio... OMIM:213980
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Posterior rib fusion, Atrial septal defect, Neonat... OMIM:265380
Monosomy 18Q
Short stature, Absence of the pulmonary valve, Arachnodactyly, Tapered finger, Secundum atrial se... ORPHA:1600
Prader-Willi Syndrome Due To Translocation
Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Patent foramen ovale, B... ORPHA:177907
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Thin upper lip vermilion, Short stature, Ventricular septal defect, Joint hypermobility, Craniosy... OMIM:617506
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Cleft lip, Cleft palate, Narrow palate, Contracture of the proximal interphalangea... OMIM:618223
8P11.2 Deletion Syndrome
Short stature, Mitral valve prolapse, Growth delay, High palate, Supernumerary ribs, Atrial septa... ORPHA:251066
Mucopolysaccharidosis-Plus Syndrome
Metaphyseal widening, Flexion contracture, Clubbing, Macroglossia, Flared iliac wing, Thick vermi... OMIM:617303
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... OMIM:612098
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Abnormality of the dentition, Long fingers, Pierre-Robin sequence, Thi... OMIM:617557
Wolf-Hirschhorn Syndrome
Orofacial cleft, Downturned corners of mouth, Short philtrum, Atrial septal defect, Vertebral fus... OMIM:194190
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Atrial septal defect, Advanced eruption of teeth, Atrioventricular c... ORPHA:818
Duane-Radial Ray Syndrome
Syndactyly, Anal stenosis, Hypoplasia of the ulna, Ventricular septal defect, Aganglionic megacol... OMIM:607323
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Thin upper lip vermilion, Hyperextensibility of the finger joints, Short stature, Ventr... ORPHA:163979
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Abnormal cardiac septum ... ORPHA:1880
Faciocardiorenal Syndrome
Narrow mouth, Cleft palate, Hypodontia, Tricuspid valve prolapse, Endocardial fibroelastosis, Smo... ORPHA:1973
Loeys-Dietz Syndrome 3
Joint laxity, Atrial septal defect, Ventricular hypertrophy, Arachnodactyly, Protrusio acetabuli,... OMIM:613795
Vici Syndrome
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Postnatal growth retardation, Dil... OMIM:242840
Diamond-Blackfan Anemia 1
11 pairs of ribs, Short stature, Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, ... OMIM:105650
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Accessory oral frenulum, Aplastic clavicle, Postaxial polydactyly, Preaxial ... OMIM:616546
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ... ORPHA:93325
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Abnormality of the philtrum, Abnormal he... ORPHA:280
Chops Syndrome
Short stature, Ventricular septal defect, High, narrow palate, Anomalous pulmonary venous return,... OMIM:616368
Cranioectodermal Dysplasia 2
Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Microdontia, Patent foramen ... OMIM:613610
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Short stature, Abnormality of the dentition, Secundum atrial septal defect, Wide mouth, Pulmonic ... OMIM:615802
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Atrial septal defect, Microdontia, Bifid... OMIM:613458
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Short stature, Coronary artery fistula, Neonatal death, Atrial septal ... OMIM:620024
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Intestinal malrotation, Dextrocardia, Partial ... OMIM:270100
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, 2-3 toe syndactyly, Joint contracture of the 4th finger, Joint contracture of the 5th... OMIM:618914
Fanconi Anemia, Complementation Group F
Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Atrial... OMIM:603467
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Protruding tongue, Gingival overgrowth, Long philtrum, Patent foramen ovale OMIM:619179
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Cleft palate, Abnormal ilium morphology, Thin vermilion border, High palate, Long ... OMIM:614080
Aica-Ribosuria Due To Atic Deficiency
Wide mouth, Thin upper lip vermilion, Secundum atrial septal defect OMIM:608688
Alagille Syndrome 2
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:610205
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Ventricular septal defect, Short stature, Rocker bottom foot, Cardiomegaly, Campto... OMIM:602782
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Patent foramen ovale, Recurrent aphthous stomatitis OMIM:614868
Congenital Disorder Of Glycosylation, Type Ig
Thin upper lip vermilion, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the r... OMIM:607143
Renpenning Syndrome 1
Thin upper lip vermilion, Macrodontia, Short stature, Ventricular septal defect, Situs inversus t... OMIM:309500
Restrictive Dermopathy 1
Natal tooth, Limb joint contracture, Rocker bottom foot, Congenital pseudoarthrosis of the clavic... OMIM:275210
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Atrial septal defect, Micro... OMIM:615873
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Joint laxity, Short stature, Ventricular septal defect, Tarsal synostosis, Mus... OMIM:157800
Holoprosencephaly 13, X-Linked
Median cleft lip, Ventricular septal defect, Submucous cleft hard palate, Cleft palate, Hypoplast... OMIM:301043
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, High palate, Atrial septal defect, Patent foramen ovale, Prominent pa... ORPHA:280633
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Short stature,... OMIM:300990
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Dental crowding, Cleft upper lip, Aplasia/Hypoplasia of the phal... OMIM:219000
Scimitar Syndrome
Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur... ORPHA:185
Cardiac Diverticulum
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... ORPHA:1686
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Short stature, Submucous cleft hard palate, Flexion contracture, Delayed puberty, Atrial septal d... OMIM:618891
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Cleft lip, Ventricular septal defect, Cleft palate, Intrauterine growth retardation OMIM:611812
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Atrial septal defect, Craniosynostosis, Tapered finger, Small hand, Severe post... OMIM:620005
Bdv Syndrome
Atrial septal defect, Delayed puberty OMIM:619326
Mucolipidosis Type Ii
Hip contracture, Short stature, Abnormal mitral valve morphology, Craniosynostosis, Limited wrist... ORPHA:576
Alg9-Cdg
Thin upper lip vermilion, Villous atrophy, Rhizomelia, Ventricular septal defect, Pericardial eff... ORPHA:79328
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, High, narrow p... ORPHA:369837
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... ORPHA:1071
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Short stature, Ventricular septal defect, Cleft palate, Anteriorly placed anus,... OMIM:309801
Coffin-Siris Syndrome 1
Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Atrial septal defec... OMIM:135900
Pseudoaminopterin Syndrome
Brachydactyly, Short stature, Overlapping toe, Limited elbow movement, Sagittal craniosynostosis,... ORPHA:221120
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... ORPHA:2255
Axenfeld-Rieger Syndrome, Type 3
Microdontia, Atrial septal defect, Hypodontia OMIM:602482
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Submucous cleft hard pa... ORPHA:3047
Adams-Oliver Syndrome 1
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Cleft palate, ... OMIM:100300
Cutis Laxa, Autosomal Recessive, Type Iic
Joint laxity, Dental crowding, Short stature, Overlapping toe, Pyloric stenosis, Mitral valve pro... OMIM:617402
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Cleft upper lip... OMIM:256520
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Ventricular septal defect, Metatarsus adductus, Cleft palate, Death in adolesce... OMIM:614866
Fanconi Anemia
Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal thumb, Atrial... ORPHA:84
Alzahrani-Kuwahara Syndrome
Short stature, Ventricular septal defect, Coronary sinus enlargement, Narrow philtrum, Thick verm... OMIM:619268
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Joint laxity, Thin upper lip vermilion, Hallux valgus, Dental crowding, Ventricular septal defect... ORPHA:466791
Pseudo-Torch Syndrome 1
Cleft lip, High palate, Patent foramen ovale, Long philtrum OMIM:251290
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly placed anus, ... ORPHA:26793
Neurocardiofaciodigital Syndrome
Syndactyly, Short stature, Double inlet left ventricle, Thin vermilion border, High palate, Polyd... OMIM:619869
Floating-Harbor Syndrome
Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Atrial septa... OMIM:136140
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, High, narrow palate, Clinodactyly of the 5th finger, Atrial septal de... ORPHA:373
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Postnatal growth retardation, Wide distal femoral metaphysis, Po... OMIM:269150
Klippel-Trénaunay Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology ORPHA:90308
Ramos-Arroyo Syndrome
Severe short stature, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mou... ORPHA:1051
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Short stature, Osteolysis, Cleft palate, Growth delay, Colon cancer, Clinod... ORPHA:1052
Jacobsen Syndrome
Ventricular septal defect, Missing ribs, Pyloric stenosis, Flexion contracture, Clinodactyly of t... OMIM:147791
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Short stature, Growth delay, Atrial septal defect, Double outlet right ven... ORPHA:1667
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Thin upper lip vermilion, Short stature, Flexion contracture, Xerostomia, Osteoporosi... ORPHA:398069
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Finger syndactyly, Ventricular septal defect, Short toe, Orofacial cleft, T... ORPHA:1519
Peters-Plus Syndrome
Short lingual frenulum, Limited elbow movement, Proximal placement of thumb, Short metatarsal, An... OMIM:261540
Brain-Lung-Thyroid Syndrome
Short stature, Ventricular septal defect, Growth delay, Abnormal cardiac septum morphology, Hypod... ORPHA:209905
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Proportionate short stature, Narrow mouth, Growth delay, Macroglossia,... OMIM:613457
Developmental Delay With Or Without Dysmorphic Facies And Autism
Thin upper lip vermilion, Short stature, Ventricular septal defect, Cleft lip, 2-3 toe cutaneous ... OMIM:618454
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Intestinal malrotation, Coronary sinus enlarge... OMIM:618280
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal... ORPHA:3097
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Cardiofaciocutaneous Syndrome
Short stature, Abnormal heart valve morphology, Abnormal morphology of ulna, Submucous cleft hard... ORPHA:1340
Arboleda-Tham Syndrome
Secundum atrial septal defect, Downturned corners of mouth, Short philtrum, Atrial septal defect,... OMIM:616268
Fontaine Progeroid Syndrome
Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus, Oligodontia, Atrial septal de... OMIM:612289
Rauch-Steindl Syndrome
Short stature, Miscarriage, Postnatal growth retardation, Thin vermilion border, Short philtrum, ... OMIM:619695
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Overlapping toe, Deep philtrum, Hip dislocat... OMIM:613884
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Tapered finger, Dilatation o... ORPHA:459070
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Neurodevelopmental Disorder With Spasticity And Poor Growth
Tented upper lip vermilion, Short stature, High, narrow palate, Achilles tendon contracture, Knee... OMIM:618076
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Congenital hip dislocation, Abnormal periodontium morphology, High palate, Atrial sep... ORPHA:480880
Proximal Spinal Muscular Atrophy
Multiple joint contractures, Flexion contracture, Hip dislocation, Elbow flexion contracture, Kne... ORPHA:70
Meckel Syndrome, Type 7
Situs inversus totalis, Postaxial foot polydactyly, Atrial septal defect, Aortic valve stenosis, ... OMIM:267010
Alg12-Cdg
Thin upper lip vermilion, Overlapping fingers, Sandal gap, Intestinal malrotation, Proximal place... ORPHA:79324
Smith-Lemli-Opitz Syndrome
Dental crowding, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Atrial septal defect,... OMIM:270400
Roberts-Sc Phocomelia Syndrome
Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal defect, Phocomelia, Wrist f... OMIM:268300
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Joint laxity, Short stature, Ventricular septal defect, High palate, Pulmonic sten... OMIM:607721
Pancreatic And Cerebellar Agenesis
Death in infancy, Joint stiffness, Secundum atrial septal defect, Flexion contracture, Severe int... OMIM:609069
Cornelia De Lange Syndrome
Proximal placement of thumb, Downturned corners of mouth, Widely spaced teeth, High palate, Atria... ORPHA:199
Orofaciodigital Syndrome Xiv
Natal tooth, Ventricular septal defect, Broad hallux, Hamartoma of tongue, Cleft lip, Supernumera... OMIM:615948
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Short stature, Ventricular septal defect, Abnormal tibia morphology, Bone cyst, Abnormal heart mo... ORPHA:363700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Atrial septal defect, Hip contracture, Death in infancy, Pierre-Robin sequence, Flexion contractu... OMIM:300868
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Death in infancy, Sandal gap, Pyloric stenosis, Rectal prolapse, Growth... OMIM:613177
Diamond-Blackfan Anemia
Short stature, Cleft soft palate, Ventricular septal defect, Absent thumb, Cleft lip, Short thumb... ORPHA:124
Bartsocas-Papas Syndrome 1
Syndactyly, Anal stenosis, Short metacarpal, Hypoplastic scapulae, Cleft upper lip, Absent thumb,... OMIM:263650
Aortic Valve Disease 2
Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis OMIM:614823
Mogs-Cdg
Cardiomegaly, High palate, Atrial septal defect, Overlapping fingers, Left ventricular hypertrophy ORPHA:79330
Hardikar Syndrome
Short stature, Cleft soft palate, Intestinal malrotation, Ventricular septal defect, Celiac disea... OMIM:301068
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Short stature, Ventricular septal defect, Cleft lip, Furrowed tongue, Hip dysplasia, ... OMIM:616975
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Kabuki Syndrome 1
Prominent fingertip pads, Anal stenosis, Congenital hip dislocation, Short stature, Intestinal ma... OMIM:147920
Loeys-Dietz Syndrome 1
Joint laxity, Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, ... OMIM:609192
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Fraser Syndrome
Finger syndactyly, Toe syndactyly, Dental crowding, Cleft upper lip, Dental malocclusion, Orofaci... ORPHA:2052
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Dextrocardia, Abnormal morphology of ulna, Mi... ORPHA:2911
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Thin ribs OMIM:617397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Transposition of the great arte... OMIM:253800
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Distal Deletion 12Q
Median cleft lip, Short stature, Broad hallux, Overlapping toe, High, narrow palate, Supernumerar... ORPHA:96149
Monosomy 22Q13.3
Clinodactyly of the 5th finger, Malar flattening, Dental crowding, Dental malocclusion ORPHA:48652
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Thin upper lip vermilion, Atrial septal defect, Prominent fingertip pads, Broad hallu... ORPHA:363611
Tetrasomy 9P
Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5t... ORPHA:3310
Syndromic Diarrhea
Villous atrophy, Gastritis, Short stature, Bicuspid aortic valve, Ventricular septal defect, Abno... ORPHA:84064
Monosomy 13Q34
Postaxial hand polydactyly, Growth delay, Postaxial foot polydactyly, Pulmonic stenosis, Common a... ORPHA:96168
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Clinodactyly of the 5t... OMIM:607872
Limb Body Wall Complex
Ventricular septal defect, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, C... ORPHA:2369
Congenital Disorder Of Glycosylation, Type Iim
Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick vermilion border, Atrial... OMIM:300896
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Renal-Hepatic-Pancreatic Dysplasia 1
Intestinal malrotation, Situs inversus totalis, Neonatal death, Atrial septal defect, Aortic valv... OMIM:208540
22Q11.2 Deletion Syndrome
Short philtrum, Atrial septal defect, Short stature, Abnormal dental enamel morphology, Arachnoda... ORPHA:567
Congenital Tracheomalacia
Ventricular septal defect, Tracheomalacia, Cardiomegaly, Esophageal atresia, Partial anomalous pu... ORPHA:95430
Floating-Harbor Syndrome
Oligodontia, Humeral pseudarthrosis, Short philtrum, Atrial septal defect, Microdontia, Mesocardi... ORPHA:2044
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cor triatriatum, Perianal abscess, Secundum atrial septal defect, Oral ulcer, Cleft palate, Growt... OMIM:612541
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint laxity, Thin upper lip vermilion, Arachnodactyly, Intestinal malrotation, Hiatus hernia, Ge... OMIM:601776
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Short stature, Broad hallux, Carious teeth, Patent foramen... OMIM:620186
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Bicuspid aortic valve, High, narrow palate, Reduced bone mineral density, Inflammatio... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Bicuspid aortic valve, High, narrow palate, Reduced bone mineral density, Inflammatio... ORPHA:99228
Monosomy X
Osteopenia, Bicuspid aortic valve, High, narrow palate, Reduced bone mineral density, Inflammatio... ORPHA:99226
Turner Syndrome
Osteopenia, Bicuspid aortic valve, High, narrow palate, Reduced bone mineral density, Inflammatio... ORPHA:881
Pallister-Hall Syndrome
Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Mesoaxial polydactyly, Radial b... ORPHA:672
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Congenital hip dislocation, Exaggerated cupid's bow, Long fingers, High palate, Short philtrum, C... OMIM:619512
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis OMIM:614300
Yunis-Varon Syndrome
Congenital hip dislocation, Short metatarsal, Short philtrum, High palate, Absent hallux, Decreas... OMIM:216340
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Perianal ... OMIM:619573
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Overlapping toe, Deep philtrum, Double outlet right ventricle, Clubbin... ORPHA:163956
Khan-Khan-Katsanis Syndrome
Tented upper lip vermilion, Short stature, Postaxial polydactyly, Clinodactyly, Joint contracture... OMIM:618460
Degcags Syndrome
Osteopenia, High palate, Atrial septal defect, Patent foramen ovale, Syndactyly, Hiatus hernia, S... OMIM:619488
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Flexion contracture, Abnormal heart morphology, Macroglossia, Thick vermilion bo... ORPHA:505248
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Death in childh... OMIM:610505
Koolen-De Vries Syndrome Due To A Point Mutation
Joint laxity, Prominent fingertip pads, Anomaly of lower limb diaphyses, Abnormal dental morpholo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint laxity, Prominent fingertip pads, Anomaly of lower limb diaphyses, Abnormal dental morpholo... ORPHA:363958
Restrictive Dermopathy
Osteopenia, Natal tooth, Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Subm... ORPHA:1662
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Thin upper lip vermilion, Progressive flexion contractures, Equinus calcaneus, 2-3 ... ORPHA:522077
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Growth delay, Abnormal cardiac septum morphology, Atrial... ORPHA:980
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Short stature, Ventricular septal defect, Small hand, Fibular hypoplasi... ORPHA:444077
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal defect, Prea... OMIM:619471
Lymphatic Malformation 7
Pericardial effusion, Atrial septal defect OMIM:617300
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Thin upper lip vermilion, Abnormality of canine, Tapered finger, Short thumb, Widely spaced teeth... ORPHA:477993
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale ORPHA:542306
Loeys-Dietz Syndrome 2
Joint laxity, Syndactyly, Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the... OMIM:610168
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Costello Syndrome
Hyperextensibility of the finger joints, Short stature, Ventricular septal defect, Limited elbow ... OMIM:218040
Neurooculorenal Syndrome
Intestinal malrotation, Dextrocardia, Short hallux, Postnatal growth retardation, Short 1st metac... OMIM:620305
Charge Syndrome
Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Hypoplasia of the ulna, Ov... OMIM:214800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Short stature, Ventricular septal defect, Tapered finger, Carious teeth, Short thumb, ... OMIM:619522
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Atrial septal defect, Hyperextensibility at elbow, Arachnodactyly, Joint hypermobility, Proportio... ORPHA:500150
Townes-Brocks Syndrome
Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Atrial septal defect... ORPHA:857
Hypothyroidism, Congenital, Nongoitrous, 5
Growth delay, Patent foramen ovale OMIM:225250
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Anteriorly placed anus, Hypoplastic left heart,... OMIM:618748
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Bicuspid aortic valve, Short stature, Postnatal growth retardation, Secundum atrial sep... OMIM:613355
Viss Syndrome
Chronic gastritis, High, narrow palate, Generalized joint laxity, Right ventricular dilatation, H... OMIM:619472
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, 2-3 toe syndactyly, Anteriorly placed anus, High palate, Patent ... OMIM:618653
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Secundum atrial septal defect, Metaphyseal widening, Subarterial ven... ORPHA:99646
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition of the gr... ORPHA:99050
Gabriele-De Vries Syndrome
Hallux valgus, Abnormality of upper lip vermillion, Sandal gap, Craniosynostosis, Abnormality of ... ORPHA:506358
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly, 2-3 toe synda... OMIM:107480
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect ORPHA:457351
Lymphatic Malformation 6
Atrial septal defect, Intestinal lymphangiectasia, Short stature OMIM:616843
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Villous atrophy, Short stature, Esophageal carcinoma, Enterocolitis, Growth delay, Ab... ORPHA:391487
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Flexion contracture, Orofacial cleft, Growth delay, Polydactyly, Hype... ORPHA:17
Multisystemic Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Intestinal malrotation OMIM:613834
Chilton-Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Short fourth metatarsal, Short fifth metatarsal, Short stature, Joint h... OMIM:619841
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Bicuspid aortic valve, Short stature, Ventricular septal defect, Deep p... ORPHA:438213
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Short stature, Aganglionic megacolon, Postaxial hand polydactyly, Hip dislocati... OMIM:308205
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Hip dislocation, Hip dysplasia, Joint contracture, Camptodactyly, Atrial... OMIM:617403
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricula... OMIM:606170
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Short stature, Ventricular septal defect, Pylor... OMIM:235730
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital hip dislocation, Flexion contracture, Anteriorly placed an... OMIM:601803
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal ... OMIM:619534
Johanson-Blizzard Syndrome
Colonic diverticula, Joint laxity, Short stature, Ventricular septal defect, Malabsorption, Situs... OMIM:243800
Diphallia
Atrial septal defect, Rectoperineal fistula, Absent thumb, Abnormal heart morphology, Duplicated ... ORPHA:227
Oculoectodermal Syndrome
Growth delay, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:600268
Neuroocular Syndrome
Hyperextensibility of the finger joints, Short stature, Tapered finger, Patent foramen ovale, Sho... OMIM:619539
Wiedemann-Rautenstrauch Syndrome
Secundum atrial septal defect, Flexion contracture, Downturned corners of mouth, Genu varum, Long... OMIM:264090
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis, Thick vermilion border, Short stature OMIM:601321
Coffin-Siris Syndrome 12
Joint laxity, Short stature, Celiac disease, Short thumb, Velopharyngeal insufficiency, Submucous... OMIM:619325
Alagille Syndrome 1
Hypoplasia of the ulna, Ventricular septal defect, Abnormal rib morphology, Atrial septal defect,... OMIM:118450
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Severe short stature, Thick vermilion border, Long philtrum ORPHA:2526
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Su... ORPHA:99125
Liver Disease, Severe Congenital
Joint laxity, Chronic gastritis, Ventricular septal defect, Left atrial enlargement, Cardiomegaly... OMIM:619991
Oligomeganephronia
Secundum atrial septal defect ORPHA:2260
Eisenmenger Syndrome
Ventricular septal defect, Clubbing, Aortopulmonary window, Abnormal heart morphology, Bacterial ... ORPHA:97214
Penile Agenesis
Ventricular septal defect, Rectal fistula, Tracheoesophageal fistula, Atrial septal defect, Anal ... ORPHA:49
Sotos Syndrome
Joint laxity, Hip contracture, Aganglionic megacolon, Ventricular septal defect, Ankle flexion co... ORPHA:821

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 Nsd2

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 Nsd2.

No publications found that use IMPC mice or data for Nsd2.

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MGI Allele Allele Type Produced
Nsd2em1(IMPC)Ccpcz Exon Deletion Mice

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