Gene: Tbx2 MGI:98494

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

T-box 2

Synonyms:

N/A

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 Tbx2 mutations

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

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

Human diseases associated with Tbx2 (1 diseases)
Human diseases predicted to be associated with Tbx2 (638 diseases)

The table below shows human diseases associated to Tbx2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction		Cleft lip, Contracture of the proximal interphalangeal joint of the 3rd finger, Cleft palate, Nar...	OMIM:618223

The table below shows human diseases predicted to be associated to Tbx2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Digital Clubbing, Isolated Congenital	Clubbing	OMIM:119900
Tendons, Extensor, Of Fingers, Anomalous Insertion Of	Abnormal finger morphology	OMIM:187390
Trigger Thumb	Abnormal thumb morphology	OMIM:190410
Syndactyly Type 2	Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly...	ORPHA:93403
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Polydactyly, Postaxial, Type A9	Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:618219
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Syndactyly, Type Iv	Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac...	OMIM:186200
Polydactyly, Postaxial, Type A1	Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po...	OMIM:174200
Polydactyly, Preaxial Iv	1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange...	OMIM:174700
Polydactyly, Preaxial Ii	Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,...	OMIM:174500
Orofacial Cleft 11	Cleft palate, Cleft lip	OMIM:600625
Syngnathia	Cleft palate	OMIM:119550
Synpolydactyly 1	Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh...	OMIM:186000
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Brachydactyly, Type C	Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ...	OMIM:113100
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate	OMIM:172880
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly	ORPHA:1566
Congenital Radioulnar Synostosis	Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi...	ORPHA:3269
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly	OMIM:607539
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis	OMIM:263450
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Syndactyly Type 1	Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Tapered finger, Cleft palate, Glossoptosis, Pierre-Robin sequence...	OMIM:311895
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Santos Syndrome	Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad...	OMIM:613005
Syndactyly-Polydactyly-Earlobe Syndrome	1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Broad toe, Preaxial foot poly...	OMIM:186350
Scalp Defects And Postaxial Polydactyly	Postaxial polydactyly type A	OMIM:181250
Syndactyly Type 4	Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo...	ORPHA:93405
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Partial duplication of the distal phalanx of the hallux, Bifid uvula, Bifid distal phalanx of the...	ORPHA:2669
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Partial duplication of the distal phalanx of the hallux, Bifid uvula, Short distal phalanx of the...	OMIM:256200
Polydactyly, Postaxial, Type A8	Genu valgum, Postaxial polydactyly	OMIM:618123
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Cleft palate	ORPHA:294975
Multiple Synostoses Syndrome 3	Metatarsal synostosis, Hallux varus, Cleft palate, Broad thumb, Humeroradial synostosis, Cubitus ...	OMIM:612961
Ectrodactyly-Polydactyly Syndrome	Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi...	ORPHA:1892
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Short fifth metatarsal, Postaxial hand polydactyly, 2-3 toe cutaneous...	OMIM:617642
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Short hallux, No permanent dentition, Cleft soft palate, Sandal gap	OMIM:216300
Syndactyly, Type Iii	4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger	OMIM:186100
Uvula, Bifid	Bifid uvula	OMIM:192100
Orofacial Cleft 10	Unilateral cleft lip, Unilateral cleft palate	OMIM:613705
Acropectoral Syndrome	Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly	OMIM:605967
Ectrodactyly-Polydactyly	Postaxial hand polydactyly, Split hand, Split foot	OMIM:225290
Sprengel Deformity	Abnormality of the shoulder girdle musculature, Shoulder muscle hypoplasia, Abnormal shoulder mor...	ORPHA:3181
Orofacial Cleft 1	Cleft upper lip, Cleft palate	OMIM:119530
Orofacial Cleft 5	Cleft upper lip, Cleft palate	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft upper lip, Cleft palate	OMIM:608864
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ...	OMIM:618167
Disorganization, Mouse, Homolog Of	Hand polydactyly, Hip dislocation, Cleft palate, Limb duplication, Cleft upper lip	OMIM:223200
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short 2nd toe, Postaxial hand polydactyly, Short 5th finger, Short thumb	OMIM:176305
Jawad Syndrome	Hallux valgus, Postaxial polydactyly, Short middle phalanx of the 5th finger, 4-5 toe syndactyly,...	OMIM:251255
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar...	OMIM:608180
Congenital Velopharyngeal Incompetence	Abnormal palate morphology, Velopharyngeal insufficiency	ORPHA:2291
Nuchal Bleb, Familial	Stillbirth, Cystic hygroma, Fetal cystic hygroma, Hydrops fetalis	OMIM:257350
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft upper lip, Cleft palate	OMIM:106250
Polydactyly, Postaxial, With Progressive Myopia	Postaxial hand polydactyly	OMIM:174310
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Abnormal metacarpal morphology, Cleft palate, Glossoptosis, Abnorma...	ORPHA:3104
Split-Foot Malformation With Mesoaxial Polydactyly	Mesoaxial hand polydactyly, 4-5 toe syndactyly, 1-2 toe syndactyly, Split hand, Split foot	OMIM:616890
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft lip, Tooth agenesis, Cleft palate	ORPHA:1074
Holzgreve Syndrome	Hand polydactyly, Cleft upper lip, Cleft palate	OMIM:236110
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Split-Hand/Foot Malformation 1	Foot oligodactyly, Ectrodactyly, Syndactyly, Cleft palate, Broad hallux, Clinodactyly, Triphalang...	OMIM:183600
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Split foot, Split hand, Cleft palate	OMIM:183700
Bifid Uvula	Submucous cleft soft palate, Bifid uvula, Cleft lip	ORPHA:99771
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis	ORPHA:295
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication	OMIM:188740
Indomethacin Embryofetopathy	Ventricular septal defect, Atrial septal defect, Hydrops fetalis, Cardiomyopathy, Oligohydramnios...	ORPHA:1909
Split hand/foot malformation 1 (SHFM1)	Cleft palate, Toe syndactyly, 2-3 toe syndactyly, Median cleft lip, Cutaneous finger syndactyly, ...	DECIPHER:46
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe, 1-2 toe complete cutaneous syndactyly, A...	ORPHA:488232
Bardet-Biedl Syndrome 7	Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly	OMIM:615984
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hydrops fetalis, Polyhydramnios, Fetal ascites, Fetal pleural effusion, Fetal pericardial effusion	OMIM:619462
Cleft Palate, Isolated	Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Cleft palate	OMIM:612913
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Postaxial Oligodactyly, Tetramelic	Postaxial oligodactyly, Postaxial foot polydactyly, Absent fifth metatarsal, Radial bowing, Lunat...	OMIM:176240
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Van Der Woude Syndrome 1	Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit	OMIM:119300
2q33.1 deletion syndrome	High palate, Cleft palate	DECIPHER:51
Orofaciodigital Syndrome Type 5	Abnormality of the philtrum, Postaxial foot polydactyly, Bifid uvula, Postaxial polysyndactyly of...	ORPHA:2919
Orofacial Cleft 13	Cleft soft palate, Oligodontia	OMIM:613857
Cleft Palate-Lateral Synechia Syndrome	Cleft palate, Narrow mouth, Oral synechia, Everted lower lip vermilion	ORPHA:2016
Conotruncal Heart Malformations	Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ventricle, Bro...	OMIM:217095
Orofaciodigital Syndrome Viii	High palate, Polydactyly, Short tibia, Syndactyly, Cleft palate, Median cleft lip	OMIM:300484
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Hydrops fetalis, Neonatal death, Endocardial fibroelastosis, Hand oligodactyly	OMIM:276822
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Polyhydramnios, Nonimmune hydrops fetalis, Upper limb undergrowth, Hydrops fetalis	OMIM:613124
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta, Hydrops fetalis, Polyhydramnios, Advanced ossification of car...	OMIM:215045
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Bowing of the arm, Cleft palate	OMIM:249710
Arthrogryposis, Distal, Type 1C	Pursed lips, High palate, Camptodactyly of finger, Camptodactyly of toe, Bifid uvula, Cleft lip, ...	OMIM:619110
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly	ORPHA:2935
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Diastema, Cleft lip, Preaxial polydactyly, Postaxial polydactyly,...	OMIM:617927
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Flattened epiphysis, Dislocated radial head, Cleft hard palate, Fixed elbow...	ORPHA:166016
Postaxial Tetramelic Oligodactyly	Oligodactyly, Abnormal finger morphology, Ectrodactyly, Abnormal metacarpal morphology	ORPHA:2730
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Velopharyngeal insufficiency	OMIM:617732
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly	ORPHA:2091
Triphalangeal Thumbs With Brachyectrodactyly	Split foot, Short 3rd toe, Short 2nd finger, Triphalangeal thumb, Split hand, Brachydactyly	OMIM:190680
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Hydrops fetalis, Polyhydramnios, Abnormal tricuspid valve morphology, ...	ORPHA:3405
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge...	OMIM:618773
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft upper lip, Absent radius, Cleft palate	OMIM:179400
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short distal phalanx of finger, Camptodactyly of finger, Submucous cleft hard palate, Short 4th m...	ORPHA:3201
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:2521
Orofaciodigital Syndrome Iv	Short finger, Clinodactyly, High palate, Hand polydactyly, Postaxial polydactyly, Short tibia, Fo...	OMIM:258860
Boomerang Dysplasia	Abnormality of the humerus, Hydrops fetalis, Aplasia/Hypoplasia of the fibula, Polyhydramnios, Fi...	ORPHA:1263
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Broad palm, Postaxial hand polydactyly, Short foot, Brachydactyly	OMIM:611263
Aphalangy-Syndactyly-Microcephaly Syndrome	Camptodactyly of finger, Postaxial foot polydactyly, Short distal phalanx of finger, Abnormal met...	ORPHA:1113
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal ...	ORPHA:957
Diffuse Neonatal Hemangiomatosis	Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Premature birth, Ascites	ORPHA:2123
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Orofaciodigital Syndrome Type 10	Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Radial devia...	ORPHA:2756
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Pierre-Robin s...	OMIM:192445
Cleft Lip With Or Without Cleft Palate	Median cleft lip and palate, Median cleft lip, Non-midline cleft lip, Non-midline cleft palate, S...	ORPHA:1991
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala...	OMIM:605289
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Postaxial polydactyly, P...	OMIM:615996
Hydrops Fetalis	Nonimmune hydrops fetalis, Abnormality of the neck, Polyhydramnios, Abnormal heart morphology, In...	ORPHA:1041
Brachydactyly-Syndactyly Syndrome	Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,...	OMIM:610713
Transaldolase Deficiency	Coarctation of aorta, Edema, Atrial septal defect, Hydrops fetalis, Biventricular hypertrophy	ORPHA:101028
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Postaxial hand polydactyly, Syndactyly	OMIM:615938
Hydrops Fetalis, Nonimmune	Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:236750
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Coffin-Siris Syndrome 11	Esophageal atresia, High palate, Bifid uvula, Downturned corners of mouth, Small hand, Cleft soft...	OMIM:618779
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft upper lip, Cleft palate	OMIM:137215
Acrorenal Syndrome	Cleft palate, Abnormal morphology of ulna, Abnormality of tibia morphology, Split hand, Aplasia/H...	ORPHA:971
Achondrogenesis, Type Ib	Hypoplastic ilia, Breech presentation, Edema, Hydrops fetalis, Polyhydramnios, Umbilical hernia, ...	OMIM:600972
Weaver-Williams Syndrome	Narrow mouth, Cleft palate	ORPHA:3448
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Ventricular septal defect, Hydrops fetalis, Atrial septal defect, Overriding aorta, Lymphedema, O...	OMIM:601927
Cardiomyopathy, Familial Restrictive, 6	Pulmonic stenosis, Restrictive cardiomyopathy, Ascites, Hydrops fetalis	OMIM:619433
Limb-Mammary Syndrome	Camptodactyly, Hallux valgus, Bifid uvula, Syndactyly, Cleft palate, Hypodontia, Joint contractur...	OMIM:603543
Zimmermann-Laband Syndrome 3	Clinodactyly, Short distal phalanx of finger, High palate, Bifid uvula, Long thumb, Absent distal...	OMIM:618658
Bardet-Biedl Syndrome 8	Situs inversus totalis, Postaxial polydactyly	OMIM:615985
Mitochondrial Complex I Deficiency, Nuclear Type 35	Nonimmune hydrops fetalis, Cardiomyopathy, Redundant neck skin, Neonatal death	OMIM:619003
Split-Hand/Foot Malformation 6	Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hand oligodactyly, Split hand, Split foot	OMIM:225300
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Fetal akinesia sequence, Dilated cardiomyopathy, Hydrops fetalis	OMIM:618815
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Cleft palate	OMIM:258320
Facial Clefting, Oblique, 1	Cleft upper lip, Deep palmar crease, Cleft palate	OMIM:600251
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Infantile Sialic Acid Storage Disease	Hydrops fetalis, Metaphyseal irregularity, Premature birth, Cardiomegaly, Ascites	OMIM:269920
Orofaciodigital Syndrome Xix	High palate, Postaxial foot polydactyly, Type A brachydactyly, Accessory oral frenulum, Microdont...	OMIM:620107
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Hand polydactyly, Abnormal 3rd finger morphology, Pulmonic stenosis, Atrial septal d...	OMIM:249670
Klippel-Trénaunay Syndrome	Edema, Atrial septal defect, Hydrops fetalis, Abnormal tricuspid valve morphology, Patent ductus ...	ORPHA:90308
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of limb bone morphology, Polyhydramnios, Hydrops fetalis	ORPHA:2204
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot	OMIM:313350
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal m...	ORPHA:2631
Congenital Disorder Of Glycosylation, Type Ik	Abnormality of the amniotic fluid, Cardiomyopathy, Nonimmune hydrops fetalis	OMIM:608540
Orofaciodigital Syndrome Xvii	Clinodactyly, Polydactyly, High, narrow palate, Clubbing of fingers, Partial duplication of thumb...	OMIM:617926
Lethal Omphalocele-Cleft Palate Syndrome	Cleft palate, Cleft soft palate, Bifid uvula, Unilateral cleft lip	ORPHA:2736
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Hip dysplasia, Abnormal metaphysis morphology, Irregular iliac cres...	ORPHA:93316
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Fractured radius, Webbed neck, Decreased fibular diameter, Hydrops fetalis, Ventricular septal de...	OMIM:616897
Achondrogenesis Type 1B	Cystic hygroma, Short neck, Hydrops fetalis, Umbilical hernia, Polyhydramnios, Thickened nuchal s...	ORPHA:93298
Cleft Velum	Cleft soft palate, Velopharyngeal insufficiency	ORPHA:99772
Achondrogenesis Type 1A	Cystic hygroma, Short neck, Hydrops fetalis, Umbilical hernia, Polyhydramnios, Thickened nuchal s...	ORPHA:93299
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial hand polyda...	OMIM:615986
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate	OMIM:607361
Weyers Acrofacial Dysostosis	Postaxial foot polydactyly, Clinodactyly of the 5th finger, Postaxial hand polydactyly, Short pal...	OMIM:193530
Bardet-Biedl Syndrome 4	Abnormality of the dentition, Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Robinow Syndrome, Autosomal Recessive 2	Clinodactyly, Camptodactyly, Abnormality of the dentition, Broad thumb, Long philtrum, Absent uvu...	OMIM:618529
Van Der Woude Syndrome 2	Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip	OMIM:606713
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Polyhydramnios, Fetal ascites, Neonatal death, Fetal pleural effusion,...	OMIM:620014
Congenital Pulmonary Lymphangiectasia	Pulmonic stenosis, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites	ORPHA:2414
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Bilateral talipes equinovarus, Postaxial polydactyly, Overlapping toe, Preaxial polydactyly, Vent...	OMIM:618142
Glycogen Storage Disease Iv	Decreased fetal movement, Edema, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Ascites	OMIM:232500
Mulibrey Nanism	Hydrops fetalis, Thickened cortex of long bones, Pericardial constriction, Single transverse palm...	OMIM:253250
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede...	OMIM:617300
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ...	OMIM:228930
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Genu varum, Hydrops fetalis, Metaphyseal cupping, Polyhydramnios,...	ORPHA:85166
Lethal Congenital Contracture Syndrome 10	Stiff neck, Torticollis, Fetal akinesia sequence, Ventricular septal defect, Hydrops fetalis, Sho...	OMIM:617022
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Patellar aplasia, High palate, Wide capital femoral epiphyses, Patellar hypoplasia, Cleft palate,...	OMIM:147891
Neuraminidase Deficiency	Hydrops fetalis, Bone-marrow foam cells, Cardiomyopathy, Facial edema, Epiphyseal stippling, Card...	OMIM:256550
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Broad thumb, Smooth philtrum, Cleft soft palate, Brachydactyly	OMIM:614526
Trisomy 1Q	Increased nuchal translucency, Camptodactyly of finger, Cystic hygroma, Ventricular septal defect...	ORPHA:261344
Orofaciodigital Syndrome X	Cleft palate, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligo...	OMIM:165590
Hydrolethalus Syndrome 2	Preaxial foot polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate	OMIM:614120
Oculofaciocardiodental Syndrome	Oligodontia, Tooth malposition, Short thumb, Solitary median maxillary central incisor, Cleft pal...	ORPHA:2712
Cardiomyopathy, Familial Hypertrophic, 27	Nonimmune hydrops fetalis, Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Rig...	OMIM:618052
Mucopolysaccharidosis, Type Ix	Submucous cleft hard palate, Finger joint hypermobility, Bifid uvula, Acetabular erosions	OMIM:601492
Weyers Ulnar Ray/Oligodactyly Syndrome	High palate, Proximal radial head dislocation, Proximal placement of thumb, Solitary median maxil...	OMIM:602418
Eye Defects-Arachnodactyly-Cardiopathy Syndrome	Abnormal distal phalanx morphology of finger, Abnormal hip bone morphology, Cleft palate, Clinoda...	ORPHA:2725
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Hb Bart'S Hydrops Fetalis	Polyhydramnios, Pericarditis, Oligohydramnios, Hydrops fetalis	ORPHA:163596
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Postaxial polydactyly, Flat acetabular roof...	OMIM:617102
Acromesomelic Dysplasia 2A	Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Aplasia/Hypoplas...	OMIM:200700
Adducted Thumbs Syndrome	High palate, High, narrow palate, Velopharyngeal insufficiency, Cleft palate	OMIM:201550
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	High palate, Polydactyly, Dental crowding, Upper limb asymmetry, Clinodactyly of the 5th finger	ORPHA:231140
Achondrogenesis	Cystic hygroma, Short neck, Hydrops fetalis, Umbilical hernia, Polyhydramnios, Thickened nuchal s...	ORPHA:932
Carpenter Syndrome	Polydactyly, Finger syndactyly, Syndactyly, Preaxial foot polydactyly, Toe syndactyly, Broad thum...	ORPHA:65759
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Polysyndactyly of hallux, Preaxial foot polydactyly	OMIM:235750
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft palate, Hypodontia, Lip pit, Cleft upper lip, Lower lip...	ORPHA:888
Robinow Syndrome, Autosomal Dominant 2	Oligodontia, Abnormality of the dentition, Short distal phalanx of finger, Camptodactyly, Cleft p...	OMIM:616331
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	2-3 finger syndactyly, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Posta...	OMIM:217085
Trisomy 13	Cystic hygroma, Ventricular septal defect, Atrial septal defect, Hydrops fetalis, Ectrodactyly, P...	ORPHA:3378
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Cleft palate, Complete duplication of thumb phalanx, Non-midline cleft lip...	OMIM:141400
Fibrochondrogenesis 1	Camptodactyly, Short neck, Hydrops fetalis, Dumbbell-shaped long bone, Hypoplastic scapulae, Broa...	OMIM:228520
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hypoplastic ilia, Short neck, Hydrops fetalis, Broad long bones, Abnormal heart mo...	ORPHA:1865
Greig Cephalopolysyndactyly Syndrome	Postaxial foot polydactyly, Finger syndactyly, Preaxial foot polydactyly, Toe syndactyly, Broad t...	ORPHA:380
Mosaic Trisomy 9	Camptodactyly of finger, Hip dislocation, Ventricular septal defect, Atrial septal defect, Rocker...	ORPHA:99776
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial foot polydactyly, Trident acetabulum, Postaxial hand polydactyly, Acetabular spurs, Bra...	OMIM:617405
Heart-Hand Syndrome Type 2	Abnormality of the humerus, Abnormality of the dentition, Abnormal palate morphology, Hand polyda...	ORPHA:1350
Cleft Lip/Palate	Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef...	ORPHA:199306
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Triphalangeal thumb,...	OMIM:135750
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
W Syndrome	Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, Upper lip pit, Submucous cleft...	ORPHA:2804
Arthrogryposis, Distal, Type 3	Down-sloping shoulders, Camptodactyly of finger, High palate, Camptodactyly of toe, Congenital hi...	OMIM:114300
Birk-Barel Syndrome	High palate, Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, Single transve...	OMIM:612292
Bardet-Biedl Syndrome 2	Postaxial foot polydactyly, Atrial septal defect, Bicuspid aortic valve, Postaxial hand polydacty...	OMIM:615981
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Otopalatodigital Syndrome Type 1	Oligodontia, Short distal phalanx of finger, Anodontia, Short thumb, Proximal placement of thumb,...	ORPHA:90650
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Achondrogenesis, Type Ii	Cystic hygroma, Edema, Hydrops fetalis, Polyhydramnios, Broad long bones, Stillbirth, Short tubul...	OMIM:200610
Camptobrachydactyly	Hand polydactyly, Syndactyly, Short toe, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Isolated Childhood Apraxia Of Speech	Submucous cleft hard palate, High, narrow palate	ORPHA:209908
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Postaxial polydactyly, Atrial septal defect, Tapered finger, Broad thumb,...	OMIM:619721
Polydactyly-Myopia Syndrome	Postaxial hand polydactyly	ORPHA:2917
Joubert Syndrome 18	Camptodactyly, Postaxial polydactyly, Ventricular septal defect, Trident pelvis, Talipes equinova...	OMIM:614815
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Abnormality of the wrist, Cleft palate, Carpal synostosis, Oligodontia of primary teeth, Tarsal s...	ORPHA:2010
Meckel Syndrome, Type 10	Postaxial foot polydactyly, Camptodactyly, Bifid uvula, Postaxial polydactyly, Ulnar deviation of...	OMIM:614175
Schneckenbecken Dysplasia	Nonimmune hydrops fetalis, Bilateral talipes equinovarus, Short neck, Umbilical hernia, Polyhydra...	OMIM:269250
Say Syndrome	Tapered finger, Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate	OMIM:181180
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Type E brachydactyly, Limited elbow extension, Hip dysplasia, Abnormal hip joint morphology, Flat...	ORPHA:1856
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Short metatarsal, Microdontia, Syndactyly, Cleft palate, Sho...	OMIM:605282
Joubert Syndrome 10	Postaxial polydactyly	OMIM:300804
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Cleft palate	OMIM:217150
Acromesomelic Dysplasia, Grebe Type	Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia invo...	ORPHA:2098
Sialidosis Type 2	Umbilical hernia, Pedal edema, Ascites, Hydrops fetalis	ORPHA:87876
Retinitis Pigmentosa 89	Bicuspid aortic valve, Postaxial polydactyly	OMIM:618955
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	High palate, Short distal phalanx of finger, Agenesis of permanent teeth, Polydactyly, Short ling...	OMIM:614091
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Brachydactyly, Short long bone, Postaxial polydactyly	OMIM:615633
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb, Submucous cleft hard palate, Bifid uvula	OMIM:619239
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Short middle phalanx of the 4th finger, Limited pronation/supination of forearm, Hydrops fetalis,...	OMIM:616738
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Lip pit, Non-midline cleft lip, Cleft palate	ORPHA:1072
Tibial Aplasia-Ectrodactyly Syndrome	Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,...	ORPHA:3329
Bardet-Biedl Syndrome 3	Brachydactyly, Postaxial polydactyly	OMIM:600151
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Nonimmune hydrops fetalis, Ventricular septal defect, Overriding aorta, Fetal pericardial effusio...	OMIM:617021
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Postaxial hand polydactyly	OMIM:615937
Anencephaly 2	Median cleft palate, Cleft maxillary alveolar ridge, Median cleft lip	OMIM:619452
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Polydactyly, Postaxial, Type A6	Postaxial foot polydactyly, Broad phalanges of the 5th finger, Postaxial hand polydactyly	OMIM:615226
Split-Hand/Foot Malformation 3	High palate, Camptodactyly, Cleft palate, Narrow mouth, Split hand	OMIM:246560
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Genu valgum, Complete atrioventricular canal defect, Postaxial pol...	OMIM:619142
Meckel Syndrome, Type 2	Polydactyly, Cleft palate, Postaxial hand polydactyly, Intestinal malrotation, Bowing of the long...	OMIM:603194
Orofaciodigital Syndrome Type 2	Y-shaped metacarpals, Polysyndactyly of hallux, Short tibia, Cleft palate, Preaxial foot polydact...	ORPHA:2751
Schilbach-Rott Syndrome	Bifid uvula, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly, Narrow mouth, Clinodac...	OMIM:164220
Stickler Syndrome, Type Ii	Bifid uvula, High, narrow palate, Long fingers, Cleft palate, Pierre-Robin sequence, Arachnodactyly	OMIM:604841
Brachycephaly, Trichomegaly, And Developmental Delay	Open mouth, High palate, Bifid uvula, Submucous cleft hard palate, Supernumerary tooth, Thin verm...	OMIM:617412
Congenital Enterovirus Infection	Myocarditis, Decreased fetal movement, Pleural effusion, Hydrops fetalis, Polyhydramnios, Cardiom...	ORPHA:292
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Cleft palate, Postaxial hand polydactyly, Cleft upper lip, Bowing of ...	OMIM:611561
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal spurs, Anal atresia, Absent tibia, Preaxial polydactyly, Metaphyseal widening, Postax...	OMIM:613091
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Ectopic anus, Non-midline cleft lip, Cleft palate	ORPHA:2476
Simpson-Golabi-Behmel Syndrome, Type 2	Short finger, Broad thumb, Postaxial hand polydactyly	OMIM:300209
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Atrial septal defect, Single umbilical artery, Neonatal death, Fetal p...	OMIM:620244
Tibial Hemimelia	Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Cleft palate, Cutaneous f...	ORPHA:93322
Meckel Syndrome, Type 8	Talipes equinovarus, Cleft upper lip, Polydactyly, Cleft palate	OMIM:613885
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Postaxial polydactyly, Ventricular septal defect, Syndactyly, Short long bo...	OMIM:615503
Laurin-Sandrow Syndrome	Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Abnormality of the wrist, Aplas...	ORPHA:2378
Cardiac Valvular Dysplasia 1	Mitral stenosis, Pulmonary artery atresia, Hypoplasia of right ventricle, Double inlet left ventr...	OMIM:212093
Orofaciodigital Syndrome Iii	Postaxial foot polydactyly, Bifid uvula, Microdontia, Short sternum, Supernumerary tooth, Postaxi...	OMIM:258850
Microcephaly 30, Primary, Autosomal Recessive	Pierre-Robin sequence, Cleft soft palate, Thin upper lip vermilion, Clinodactyly of the 5th finger	OMIM:620183
Craniosynostosis 2	Cleft soft palate, Triphalangeal thumb, Supernumerary tooth, Brachydactyly	OMIM:604757
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Foot polydactyly, Postaxial hand polydactyly	ORPHA:2155
Combined Oxidative Phosphorylation Deficiency 41	Nonimmune hydrops fetalis, Cardiomegaly, Premature birth	OMIM:618838
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft palate, Cleft lip	OMIM:612370
Greig Cephalopolysyndactyly Syndrome	Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, 1-3 toe syndactyly, Abno...	OMIM:175700
Achondrogenesis, Type Ia	Increased nuchal translucency, Hydrops fetalis, Short neck, Polyhydramnios, Abnormal femoral meta...	OMIM:200600
Mohr Syndrome	Partial duplication of the phalanges of the hallux, High palate, Postaxial foot polydactyly, Synd...	OMIM:252100
Alg8-Cdg	Camptodactyly, Edema, Hydrops fetalis, Brachydactyly, Oligohydramnios, Premature birth, Talipes e...	ORPHA:79325
Orofaciodigital Syndrome V	High palate, Postaxial foot polydactyly, Bifid uvula, Postaxial polydactyly, Ankyloglossia, Agang...	OMIM:174300
Fetal Gaucher Disease	Decreased fetal movement, Fetal akinesia sequence, Hydrops fetalis, Neonatal death, Stillbirth	ORPHA:85212
Pelger-Huet Anomaly	Median cleft palate, Abnormality of the dentition, Polydactyly, Short 4th metacarpal, Short 3rd m...	OMIM:169400
3P25.3 Microdeletion Syndrome	Congenital pseudoarthrosis of the clavicle, 2-3 finger syndactyly, Pulmonic stenosis, Proximal pl...	ORPHA:435638
Gm1 Gangliosidosis	Camptodactyly of finger, Abnormal metaphysis morphology, Ventricular septal defect, Hydrops fetal...	ORPHA:354
Syngap1-Related Developmental And Epileptic Encephalopathy	High palate, Abnormal tongue physiology, Postaxial polydactyly, Narrow mouth, Thin vermilion bord...	ORPHA:544254
Greenberg Dysplasia	Metaphyseal cupping, Absent distal phalanges, Echogenic fetal bowel, Diaphyseal thickening, Epiph...	OMIM:215140
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly	OMIM:615761
Branchiogenic-Deafness Syndrome	Branchial cyst, Short distal phalanx of finger, Submucous cleft hard palate, Branchial fistula	OMIM:609166
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Hydrops fetalis, Palpebral edema, Pleural effusion, Predominantly lower limb lymphedema, Palmar t...	ORPHA:69735
Lymphatic Malformation 6	Nonimmune hydrops fetalis, Edema, Atrial septal defect, Polyhydramnios, Periorbital edema, Facial...	OMIM:616843
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis	ORPHA:477774
Combined Oxidative Phosphorylation Deficiency 42	Nonimmune hydrops fetalis, Cardiomyopathy, Premature birth, Neonatal death	OMIM:618839
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Postaxial polydactyly, Ventricular septal defect, Syndactyly, Hypoplasia of the...	OMIM:617895
Mucopolysaccharidosis, Type Vii	Short neck, Hydrops fetalis, Umbilical hernia, Cardiomyopathy, Abnormal heart valve morphology, P...	OMIM:253220
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Premature birth, Neonatal death	OMIM:618835
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft lip, High palate, Bifid uvula	OMIM:155145
Nephronophthisis 15	Polydactyly	OMIM:614845
Buratti-Harel Syndrome	High palate, Bifid uvula, Submucous cleft hard palate, Broad thumb, Velopharyngeal insufficiency,...	OMIM:619314
Congenital Myopathy 1B, Autosomal Recessive	Polyhydramnios, Decreased fetal movement, Hydrops fetalis	OMIM:255320
Campomelia, Cumming Type	Cystic hygroma, Hydrops fetalis, Bowing of the long bones, Lymphedema, Oligohydramnios, Clubbing ...	ORPHA:1318
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Submucous cleft hard palate, Syndactyly, Cleft palate, Clinodact...	OMIM:614701
Idiopathic Neonatal Atrial Flutter	Fetal distress, Hydrops fetalis	ORPHA:45452
Combined Oxidative Phosphorylation Deficiency 57	Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Neonatal death, Fetal p...	OMIM:620167
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Nonimmune hydrops fetalis, Camptodactyly, Ventricular septal defect, Atrial septal defect, Umbili...	OMIM:235510
Mucopolysaccharidosis Type 7	Short neck, Hydrops fetalis, Umbilical hernia, Abnormal hip bone morphology, Metatarsus adductus,...	ORPHA:584
Orofaciodigital Syndrome Ix	High palate, Abnormality of the dentition, Camptodactyly, Hand polydactyly, Short tibia, Accessor...	OMIM:258865
Orofaciodigital Syndrome Vi	Incomplete cleft of the upper lip, Cleft palate, Preaxial foot polydactyly, Toe syndactyly, Fibul...	OMIM:277170
Free Sialic Acid Storage Disease	Abnormality of the upper limb, Ascites, Hydrops fetalis	ORPHA:834
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Ivic Syndrome	Short 1st metacarpal, Small thenar eminence, Absent thumb, Short thumb, Tetralogy of Fallot, Prea...	OMIM:147750
Joubert Syndrome 7	Postaxial hand polydactyly, Genu valgum, Postaxial polydactyly	OMIM:611560
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Atrioventricular canal defect, Tapered finger, Postaxial polydactyly	OMIM:613792
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial effu...	OMIM:619313
Scalp Defects-Postaxial Polydactyly Syndrome	Postaxial polydactyly type A	ORPHA:1003
Suleiman-El-Hattab Syndrome	High palate, Polydactyly, Downturned corners of mouth, Long philtrum, Smooth philtrum, Single tra...	OMIM:618950
Lymphedema-Distichiasis Syndrome	Nonimmune hydrops fetalis, Cystic hygroma, Ventricular septal defect, Tetralogy of Fallot, Lymphe...	OMIM:153400
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Short neck, Polyhydramnios, Hydrops fetalis, Preaxial polydactyly, Postaxia...	OMIM:616546
Jeune Syndrome	Postaxial foot polydactyly, Abnormal metaphysis morphology, Toe syndactyly, Cone-shaped epiphysis...	ORPHA:474
Joubert Syndrome 24	Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus	OMIM:616654
Tarp Syndrome	Bilateral talipes equinovarus, Postaxial polydactyly, Atrial septal defect, Tetralogy of Fallot, ...	OMIM:311900
Gm1-Gangliosidosis, Type I	Short neck, Hydrops fetalis, Abnormal heart valve morphology, Dilated cardiomyopathy, Hypertrophi...	OMIM:230500
Bardet-Biedl Syndrome 17	Situs inversus totalis, Postaxial foot polydactyly, Dextrocardia, Polydactyly, Mesoaxial polydact...	OMIM:615994
Al-Gazali-Bakalinova Syndrome	Polydactyly, Flattened epiphysis, Tapered finger, Triangular mouth, Clinodactyly, Epiphyseal dysp...	OMIM:607131
Cree Mental Retardation Syndrome	Cleft soft palate, Cutaneous finger syndactyly, Rocker bottom foot	OMIM:606851
Long Qt Syndrome 3	Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:603830
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Single transverse palmar crease, Preaxial polydactyly, Postaxial polydactyly, Ulnar bowing, Hypop...	OMIM:617866
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Nonimmune hydrops fetalis, Fetal akinesia sequence, Polyhydramnios, Dilated cardiomyopathy, Abnor...	ORPHA:367
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial foot polydactyly, Bifid uvula, Postaxial polydactyly, Deep philtrum, Cleft palate, Down...	ORPHA:404440
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Polysyndactyly of hallux, Atrial septal defect, Hydrops fetalis, Posta...	OMIM:263520
Hydrolethalus	Bifid uvula, Unilateral cleft lip, Submucous cleft hard palate, Cleft palate, Postaxial hand poly...	ORPHA:2189
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Intellectual Developmental Disorder, Autosomal Dominant 36	Deviation of the 5th finger, Hip dysplasia, Broad hallux, Postaxial polydactyly	OMIM:616362
Microphthalmia, Syndromic 11	Cleft upper lip, Cleft palate	OMIM:614402
Hemochromatosis, Neonatal	Nonimmune hydrops fetalis, Oligohydramnios	OMIM:231100
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Abnormality of the wrist, Abnormality of the elbow, Postaxial hand polydactyly, Ap...	ORPHA:2491
Alg9-Cdg	Torticollis, Decreased fetal movement, Narrow greater sciatic notch, Hitchhiker thumb, Hydrops fe...	ORPHA:79328
Gm1 Gangliosidosis Type 1	Abnormal placenta morphology, Hydrops fetalis, Cardiomyopathy, Broad metacarpals, Flattened femor...	ORPHA:79255
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Ectrodactyly, Syndactyly, Cleft palate, Short 5th finger, Clinodactyly of the 5th fi...	ORPHA:397590
Lymphatic Malformation 1	Nonimmune hydrops fetalis, Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema	OMIM:153100
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Widely spaced teeth, Submucous cleft hard palate, Finger syndactyly, Cleft palate,...	ORPHA:1071
Joubert Syndrome 23	Polydactyly	OMIM:616490
Yunis-Varon Syndrome	Hip dislocation, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Cardiomyop...	ORPHA:3472
Phocomelia, Schinzel Type	Aplasia of the ulna, Foot oligodactyly, Short neck, Meningocele, Hydrops fetalis, Aplasia/Hypopla...	ORPHA:2879
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Polydactyly, Ventricular septal defect	OMIM:602501
Mgat2-Cdg	Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology, Patent ductus arteriosus, ...	ORPHA:79329
Lymphangiectasia, Pulmonary, Congenital	Nonimmune hydrops fetalis, Chylous ascites, Edema, Polyhydramnios, Facial edema, Palpebral edema,...	OMIM:265300
Short Rib-Polydactyly Syndrome	Situs inversus totalis, Abnormal long bone morphology, Polydactyly, Short tibia, Abnormal heart m...	ORPHA:1505
Hypomelia With Mullerian Duct Anomalies	Postaxial hand polydactyly, Split hand	OMIM:146160
Mycophenolate Mofetil Embryopathy	Coarctation of aorta, Ventricular septal defect, Hydrops fetalis, Short palm, Foot polydactyly	ORPHA:268249
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Hip dislocation, Bifid uvula, Proximal placement of thumb, Short thum...	OMIM:268305
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Tented upper lip vermilion, Smooth philtrum, Clinodactyly, Thin u...	ORPHA:313781
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Postaxial hand polydactyly, Ventricular septal defect	ORPHA:83473
Alpha-Thalassemia	Hydrops fetalis	ORPHA:846
Orofaciodigital Syndrome Type 6	High palate, Hand polydactyly, Mesoaxial polydactyly, Preaxial polydactyly, Syndactyly, Foot poly...	ORPHA:2754
Limb-Mammary Syndrome	Oligodactyly, Bifid uvula, Cleft lip, Cleft hard palate, Syndactyly, Cleft palate, 3-4 finger cut...	ORPHA:69085
Mitochondrial Trifunctional Protein Deficiency 1	Abnormality of the amniotic fluid, Dilated cardiomyopathy, Hydrops fetalis	OMIM:609015
Culler-Jones Syndrome	Cleft upper lip, Postaxial polydactyly, Cleft palate	OMIM:615849
Meier-Gorlin Syndrome 5	Patellar aplasia, Submucous cleft hard palate, Irregular femoral epiphysis, Slender long bone, Lo...	OMIM:613805
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short finger, Oligodontia, High palate, Aplasia of the distal phalanx of the 5th finger, Short di...	OMIM:608670
Joubert Syndrome 27	Polydactyly, Thick lower lip vermilion	OMIM:617120
Laurence-Moon Syndrome	Abnormality of the hand, Polydactyly	OMIM:245800
Loeys-Dietz Syndrome 5	High palate, Bilateral coxa valga, Bifid uvula, Flexion contracture of toe, Hiatus hernia, Increa...	OMIM:615582
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis, Slender long bone, Brachydactyly	OMIM:618265
Osteogenesis Imperfecta, Type Ii	Nonimmune hydrops fetalis, Broad long bones, Crumpled long bones, Tibial bowing, Premature birth,...	OMIM:166210
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Hydrops fetalis	ORPHA:766
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atr...	OMIM:265380
8Q22.1 Microdeletion Syndrome	Camptodactyly of finger, Abnormality of the dentition, Submucous cleft hard palate, Finger syndac...	ORPHA:178303
Farber Disease	CNS foam cells, Short finger, Joint swelling, Hydrops fetalis, Abnormality of the elbow, Abnormal...	ORPHA:333
Joubert Syndrome 39	Joint contracture of the 5th finger, Hypoplastic left heart, Postaxial polydactyly	OMIM:619562
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Atrial septal defect, Postaxial polydactyly	OMIM:603387
Vertebral Hypersegmentation And Orofacial Anomalies	Submucous cleft hard palate, Unilateral cleft palate, Scapular winging, Unilateral cleft lip	OMIM:619122
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Ventricular septal defe...	ORPHA:2438
Tetrasomy 12P	Abnormal soft palate morphology, Anal atresia, Everted lower lip vermilion, Downturned corners of...	ORPHA:884
Septooptic Dysplasia	Short finger, Polydactyly	OMIM:182230
Multiple Pterygium Syndrome, Escobar Variant	Down-sloping shoulders, Camptodactyly of toe, Patellar aplasia, Decreased fetal movement, Hip dis...	OMIM:265000
Intellectual Developmental Disorder, Autosomal Dominant 58	Single transverse palmar crease, High palate, Submucous cleft hard palate, Dental crowding, Protr...	OMIM:618106
Gaucher Disease, Perinatal Lethal	Nonimmune hydrops fetalis, Decreased fetal movement, Polyhydramnios, Neonatal death, Premature bi...	OMIM:608013
Congenital Disorder Of Glycosylation, Type Iil	Hip dysplasia, Ventricular septal defect, Atrial septal defect, Postaxial polydactyly, Patent duc...	OMIM:614576
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
Chromosome 6Q24-Q25 Deletion Syndrome	High palate, Anteriorly placed anus, Submucous cleft hard palate, High, narrow palate, Long philt...	OMIM:612863
Hypoglossia-Hypodactyly Syndrome	Anal atresia, High palate, Aplasia/Hypoplasia of the tongue, Short distal phalanx of finger, Jeju...	ORPHA:989
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly	ORPHA:64754
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Hydrops fetalis	ORPHA:88618
Microphthalmia With Limb Anomalies	Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous syndactyly, Hip dislocation, Met...	OMIM:206920
Cranioectodermal Dysplasia 2	Cystic hygroma, Polydactyly, Atrial septal defect, Hydrops fetalis, Polyhydramnios, Left ventricu...	OMIM:613610
Fraser Syndrome 3	Nonimmune hydrops fetalis, Cutaneous syndactyly, Stillbirth, Sonographic non-visualized fetal bla...	OMIM:617667
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Deep palmar crease, Adducted thumb, Smooth philtrum, Cleft soft palate, Short philtrum	ORPHA:293725
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate	ORPHA:250999
Blomstrand Lethal Chondrodysplasia	Coarctation of aorta, Hydrops fetalis, Metaphyseal cupping, Polyhydramnios, Short metacarpal, Abn...	ORPHA:50945
Endocrine-Cerebroosteodysplasia	Median cleft palate, Single transverse palmar crease, Preaxial polydactyly, Postaxial polydactyly...	OMIM:612651
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Hip dysplasia, Polydactyly	ORPHA:531151
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Bifid uvula, Submucous cleft hard palate, Large iliac wing, High,...	ORPHA:2780
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Postaxial polydactyly, Polyhydramnios, Fetal pericardial effusion, Pre...	OMIM:219730
Rhombencephalosynapsis	Esophageal atresia, Anal atresia, Polydactyly, Finger syndactyly, Aganglionic megacolon, Narrow m...	ORPHA:59315
Orofaciodigital Syndrome Xv	Postaxial hand polydactyly, Broad hallux, Duplication of phalanx of hallux	OMIM:617127
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypoplastic ischia, Polydactyly	OMIM:616910
Acrocallosal Syndrome	Bifid uvula, Cleft palate, Preaxial foot polydactyly, Narrow mouth, Prominent palatine ridges, To...	OMIM:200990
Joubert Syndrome 16	Polydactyly	OMIM:614465
Meckel Syndrome 14	Postaxial foot polydactyly, Postaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Single...	OMIM:619879
Carpenter Syndrome 1	Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Preaxial foot polydactyly, ...	OMIM:201000
Joubert Syndrome 32	Postaxial foot polydactyly, Postaxial hand polydactyly, Hypertrophic cardiomyopathy	OMIM:617757
Cerebrocostomandibular Syndrome	Short humerus, High palate, Congenital hip dislocation, Anteriorly placed anus, Short hard palate...	OMIM:117650
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, High palate, Submucous cleft hard palate, Epiphyseal stippling, Stippled calcifica...	OMIM:222765
Otopalatodigital Syndrome Type 2	Oligodontia, Camptodactyly of finger, Anodontia, Short thumb, Preaxial polydactyly, Synostosis of...	ORPHA:90652
Fetal Akinesia Deformation Sequence 1	Nonimmune hydrops fetalis, Increased nuchal translucency, Short umbilical cord, Fetal akinesia se...	OMIM:208150
Stickler Syndrome, Type I	Bifid uvula, Abnormal femoral epiphysis morphology, Submucous cleft hard palate, Irregular femora...	OMIM:108300
Cardioacrofacial Dysplasia 2	Postaxial foot polydactyly, Clubbing, Atrioventricular canal defect, Clinodactyly of the 5th fing...	OMIM:619143
Bardet-Biedl Syndrome 20	Atrial septal defect, Postaxial polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyl...	OMIM:619471
Frontonasal Dysplasia 1	Camptodactyly, Tetralogy of Fallot, Postaxial hand polydactyly, Radial deviation of finger, Clino...	OMIM:136760
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Postaxial polydactyly, Flat acetabular roof, Short tibia, Stillbirth, Short...	OMIM:616300
Native American Myopathy	High palate, Camptodactyly, Bifid uvula, Cleft palate, Downturned corners of mouth, Submucous cle...	ORPHA:168572
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Cleft hard palate, Submucous cleft hard palate, Dental crowding, Short femur, Narrow...	OMIM:300990
Myhre Syndrome	Abnormal lip morphology, Abnormal metaphysis morphology, Bifid uvula, Unilateral cleft lip, Submu...	ORPHA:2588
Joubert Syndrome 37	Postaxial polydactyly	OMIM:619185
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Breech presentation, Hydrops fetalis, Atrial septal defect, Polyhydramnios, Short neck, Broad pal...	OMIM:300868
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Palpebral edema, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiec...	OMIM:607823
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Postaxial polydactyly, Left ventricular hypertrophy, Syndactyly, Post...	OMIM:209900
Orofaciodigital Syndrome I	Clinodactyly, High palate, Agenesis of permanent teeth, Polydactyly, Ankyloglossia, Syndactyly, E...	OMIM:311200
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Foot polydactyly, Split hand, Duodenal atresia, Phocomelia	ORPHA:3004
Gaucher Disease Type 3	Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Abnormal myocardium...	ORPHA:77261
Aminopterin Syndrome Sine Aminopterin	Rudimentary postaxial polydactyly of hands, Short thumb, Syndactyly, Clinodactyly, Arachnodactyly...	OMIM:600325
Marbach-Schaaf Neurodevelopmental Syndrome	Submucous cleft hard palate, Tapered finger, Downturned corners of mouth, Thin upper lip vermilio...	OMIM:619680
Hennekam Syndrome	Camptodactyly of finger, Hydrops fetalis, Finger syndactyly, Delayed eruption of teeth, Lymphedem...	ORPHA:2136
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Non-midline cleft lip, Hypodontia, Velopharyngeal insufficiency...	ORPHA:199302
Joubert Syndrome 22	Postaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly	OMIM:615665
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hip dislocation, Hip dysplasia, Postaxial polydactyly, Atrial septal defect, Tapered finger, Smal...	OMIM:300968
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly	OMIM:615824
Macrodactyly	Macrodactyly	OMIM:155500
Tarp Syndrome	Hand polydactyly, Hypoplasia of proximal radius, Postaxial polydactyly, Atrial septal defect, Tet...	ORPHA:2886
Amish Lethal Microcephaly	Cleft soft palate	ORPHA:99742
3Mc Syndrome 3	Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly, Cleft upper lip	OMIM:248340
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Short thumb, Postaxial polydactyly, Overlapping toe, Short 4th metac...	ORPHA:221120
Yunis-Varon Syndrome	Short distal phalanx of finger, Hip dislocation, Short thumb, Ventricular septal defect, Tetralog...	OMIM:216340
Acromelic Frontonasal Dysostosis	Polydactyly, Preaxial polydactyly, Short tibia, Syndactyly, Patellar hypoplasia, U-Shaped upper l...	OMIM:603671
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Abnormal epiphysis morphology, Toe syndactyly, Postaxial hand poly...	ORPHA:3082
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Preaxial polydactyly, Postaxial polydactyly, Tetralogy of Fallot, Short tibia, Complete atriovent...	OMIM:617925
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Bifid uvula, Cleft palate, Preaxial hand polydactyly, Rectovaginal fistu...	ORPHA:2753
Cholestasis, Progressive Familial Intrahepatic, 5	Nonimmune hydrops fetalis, Pleural effusion, Ascites	OMIM:617049
Joubert Syndrome 14	Ventricular septal defect, Postaxial polydactyly	OMIM:614424
Congenital Disorder Of Glycosylation, Type Ia	Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema, Cardiomyopathy, Pericardial ...	OMIM:212065
Congenital Sialidosis Type 2	Polydactyly, Edema, Umbilical hernia, Abnormal heart morphology, Ascites	ORPHA:93400
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Hydrops fetalis	OMIM:224120
Diamond-Blackfan Anemia	Nonimmune hydrops fetalis, Abnormality of the thenar eminence, Coarctation of aorta, Absent thumb...	ORPHA:124
Capillary Malformation-Arteriovenous Malformation	Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Abnormal heart morphology	ORPHA:137667
Cranioectodermal Dysplasia 3	2-4 toe syndactyly, Postaxial polydactyly, 2-3 toe syndactyly, Sandal gap, Brachydactyly	OMIM:614099
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Deep philtrum, Polydactyly, High palate	ORPHA:314655
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Carpenter Syndrome 2	Situs inversus totalis, Camptodactyly, Dextrocardia, Hitchhiker thumb, Preaxial polydactyly, Post...	OMIM:614976
Chondrodysplasia Punctata 2, X-Linked Dominant	Stippled calcification in carpal bones, Bilateral talipes equinovarus, Postaxial polydactyly, Epi...	OMIM:302960
Generalized Arterial Calcification Of Infancy	Stippled calcification of the shoulder, Coronary artery calcification, Medial calcification of me...	ORPHA:51608
Lenz-Majewski Hyperostotic Dwarfism	Elbow ankylosis, Abnormal metaphysis morphology, Bifid uvula, Abnormal finger morphology, Submuco...	ORPHA:2658
Miller-Dieker Lissencephaly Syndrome	Camptodactyly, Duodenal atresia, Polydactyly, Deep palmar crease, Cleft palate, Delayed eruption ...	OMIM:247200
Duane-Radial Ray Syndrome	Short humerus, Small thenar eminence, Absent radius, Short thumb, Atrial septal defect, Ventricul...	OMIM:607323
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Hydrops fetalis	OMIM:613673
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hip dislocation, Proximal placement of thumb, Atrial septal defect, Short metatarsal, Preaxial fo...	OMIM:609945
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate, Wide mouth, Thick low...	OMIM:619103
Cerebrooculonasal Syndrome	High palate, Postaxial polydactyly, Broad philtrum, Solitary median maxillary central incisor, Cl...	OMIM:605627
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Early ossification of capital femoral epiphyses, Postaxial polydactyly, Abnormal 5th metacarpal m...	ORPHA:397715
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Dehydration, Abnormal heart morphology, Hydrops fetalis	ORPHA:79282
Mullegama-Klein-Martinez Syndrome	Bifid uvula, Cleft lip, Polydactyly, Cleft palate, Long philtrum, Smooth philtrum, Short philtrum...	OMIM:301022
Acrofacial Dysostosis, Weyers Type	Postaxial hand polydactyly, Clinodactyly of the 5th finger, Small hand, Overlapping fingers	ORPHA:952
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Ellis-Van Creveld Syndrome	Postaxial foot polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Atrial septal defect, Shor...	OMIM:225500
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Short long bone, Postaxial hand polydactyly, Cone-shaped epiphyses of ...	OMIM:615630
Mckusick-Kaufman Syndrome	Postaxial foot polydactyly, Hypoplastic left heart, Ventricular septal defect, Atrial septal defe...	ORPHA:2473
Dubowitz Syndrome	High palate, Abnormality of the dentition, Malabsorption, Submucous cleft hard palate, Aplasia/Hy...	ORPHA:235
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Open mouth, Eclabion, Ankyloglossia, Deep philtrum, Widely spaced teeth, Microdontia, Cleft palat...	OMIM:619950
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Nonimmune hydrops fetalis, Lymphedema	OMIM:137940
Campomelic Dysplasia	Shortening of all phalanges of the toes, Hip dislocation, Cleft palate, Narrow mouth, Shortening ...	OMIM:114290
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Polydactyly	OMIM:616629
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Postaxial polydactyly, Rocker bottom foot, Long fingers, Palmoplantar hyperhidrosis, Single trans...	OMIM:617527
Dandy-Walker Malformation With Postaxial Polydactyly	Aortic valve stenosis, Postaxial hand polydactyly, Patent ductus arteriosus	OMIM:220220
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Atrioventricular canal defect, Short clavicles, Short long bone, Postaxial...	OMIM:617088
Microphthalmia With Limb Anomalies	Hip dislocation, Short tibia, Abnormality of the upper limb, Toe syndactyly, Broad thumb, Bilater...	ORPHA:1106
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Palmar pits, Polydactyly, Odontogenic keratocysts of the jaw, Hamartomato...	OMIM:109400
Acalvaria	Postaxial hand polydactyly	ORPHA:945
Kinsship Syndrome	Hip dislocation, Polydactyly, Ankyloglossia, Widely spaced teeth, Coxa valga, Dislocated radial h...	OMIM:619297
C Syndrome	Postaxial foot polydactyly, Hip dislocation, Ulnar deviation of finger, Ventricular septal defect...	OMIM:211750
Acrocallosal Syndrome	Triphalangeal thumb, Postaxial hand polydactyly	ORPHA:36
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Hip dislocation	OMIM:241800
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	High palate, Contracture of the proximal interphalangeal joint of the 4th toe, Congenital hip dis...	ORPHA:457279
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Patellar aplasia, Bifid uvula, Submucous cleft hard palate, Slender long...	ORPHA:2554
Constricting Bands, Congenital	Hand polydactyly, Syndactyly, Cleft palate, Talipes equinovarus, Cleft upper lip	OMIM:217100
Double Outlet Right Ventricle	Narrow mouth, Intestinal malrotation, Submucous cleft hard palate, Cleft palate	ORPHA:3426
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Bifid uvula	OMIM:617660
Oliver Syndrome	Postaxial foot polydactyly, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Promi...	ORPHA:2920
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Camptodactyly of finger, Postaxial polydactyly, Syndactyly, Postaxial...	OMIM:249000
Walker-Warburg Syndrome	Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:899
Galactosialidosis	Nonimmune hydrops fetalis	OMIM:256540
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Macroglossia, Deep philtrum, Submucous cleft hard palate, Short digit, Thin lower lip vermilion, ...	OMIM:619194
Treacher Collins Syndrome 1	Abnormal parotid gland morphology, Cleft palate, Narrow mouth, Cleft soft palate, Wide mouth	OMIM:154500
Au-Kline Syndrome	Oligodontia, Open mouth, High palate, Hip dysplasia, Bifid uvula, Postaxial polydactyly, Overlapp...	OMIM:616580
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Tooth malposition, Bifid uvula, Submucous cleft hard palate, Cleft palate, Failure of eruption of...	ORPHA:2250
Velocardiofacial Syndrome	Open mouth, Submucous cleft hard palate, Abnormality of the hand, Cleft palate, Velopharyngeal in...	OMIM:192430
Ulnar-Mammary Syndrome	Camptodactyly of finger, Absent hand, Short distal phalanx of finger, Abnormality of the humerus,...	ORPHA:3138
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal distal phalanx morphology of finger, Abnormal metaphysis morphology, Bifid uvula, Abnorm...	ORPHA:2636
Mend Syndrome	High palate, Polydactyly, Overlapping toe, Long fingers, Smooth philtrum, 2-3 toe syndactyly, Bro...	OMIM:300960
Pearson Syndrome	Dehydration, Hydrops fetalis, Cardiomyopathy, Abnormal heart morphology, Corneal stromal edema	ORPHA:699
Gaucher Disease	Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Abnormal myocardium...	ORPHA:355
Desmosterolosis	Bifid uvula, Submucous cleft hard palate, Cleft palate, Narrow mouth, Metatarsus adductus, Intest...	ORPHA:35107
Helsmoortel-Van Der Aa Syndrome	Oligodontia, Polydactyly, Ankyloglossia, Widely spaced teeth, Thin vermilion border, Smooth philt...	OMIM:615873
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Postaxial hand polydactyly	ORPHA:1389
Stromme Syndrome	Duodenal atresia, Preaxial polydactyly, Jejunal atresia, Cleft palate, Intestinal malrotation, Wi...	OMIM:243605
Pyruvate Kinase Deficiency Of Red Cells	Nonimmune hydrops fetalis	OMIM:266200
Khan-Khan-Katsanis Syndrome	Clinodactyly, Patent ductus arteriosus after premature birth, Patent foramen ovale, Postaxial pol...	OMIM:618460
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Submucous cleft soft palate	ORPHA:2282
Branchioskeletogenital Syndrome	Premature loss of teeth, Abnormality of the dentition, Anteriorly placed anus, Bifid uvula, Unila...	ORPHA:1299
Popliteal Pterygium Syndrome	Bifid uvula, Cleft palate, Talipes equinovarus, Cutaneous finger syndactyly, Cleft upper lip, Fib...	OMIM:119500
Adnp Syndrome	Polydactyly, Abnormal finger morphology, Abnormal toe morphology, Advanced eruption of teeth, Bro...	ORPHA:404448
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Edema, Hydrops fetalis, Polyhydramnios, Premature birth, Fetal polyuria	OMIM:602522
Cardiofaciocutaneous Syndrome 1	Open mouth, Abnormality of the dentition, High palate, Deep philtrum, Submucous cleft hard palate...	OMIM:115150
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Tracheoesophageal fistula, Esophageal atresia, Submucous cleft hard palate, Duodenal atresia	OMIM:619227
Loeys-Dietz Syndrome 2	Camptodactyly, Postaxial polydactyly, Atrial septal defect, Syndactyly, Absent distal phalanges, ...	OMIM:610168
Rubinstein-Taybi Syndrome 1	Hypoplastic left heart, Short thumb, Ventricular septal defect, Atrial septal defect, Polydactyly...	OMIM:180849

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