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Gene: Tbx2 MGI:98494

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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:
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.

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, Narrow palate, Cleft palate, Contracture of the proximal interphalangeal joint of the ... OMIM:618223

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb 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
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb 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
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Syngnathia
Cleft palate OMIM:119550
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... 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
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... OMIM:311895
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... ORPHA:2669
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis... OMIM:256200
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... OMIM:612961
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology ORPHA:294975
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Uvula, Bifid
Bifid uvula OMIM:192100
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Sprengel Deformity
Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should... ORPHA:3181
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe OMIM:176305
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication OMIM:223200
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Nuchal Bleb, Familial
Stillbirth, Cystic hygroma, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Cleft palate, Split foot OMIM:183700
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... OMIM:249710
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis ORPHA:295
Cleft Soft Palate
Cleft soft palate OMIM:119570
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... DECIPHER:46
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion OMIM:619462
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly OMIM:612913
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Chondrodysplasia, Blomstrand Type
Premature birth, Micromelia, Polyhydramnios, Fetal ascites, Squared iliac bones, Flared metaphysi... OMIM:215045
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Cleft hard palate, Delayed epiphyseal ossificati... ORPHA:166016
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Upper limb undergrowth, Polyhydramnios OMIM:613124
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death OMIM:276822
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... OMIM:619110
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... OMIM:617927
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... OMIM:615996
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... ORPHA:2756
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb ORPHA:2091
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft palate, Cleft upper lip OMIM:179400
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... ORPHA:3405
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... ORPHA:3201
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate ORPHA:2521
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... OMIM:258860
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... ORPHA:957
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... OMIM:192445
Diffuse Neonatal Hemangiomatosis
Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites ORPHA:2123
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Congenital Heart Block
Premature birth, Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edem... ORPHA:60041
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Achondrogenesis, Type Ib
Polyhydramnios, Micromelia, Hypoplastic ilia, Breech presentation, Edema, Hydrops fetalis, Stillb... OMIM:600972
Coloboma Of Macula And Skeletal Anomalies
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... OMIM:216800
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Ascites, Hydrops fetalis, Pulmonic stenosis OMIM:619433
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Transaldolase Deficiency
Edema, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Atrial septal defect ORPHA:101028
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Acrorenal Syndrome
Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla... ORPHA:971
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... OMIM:618779
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Hydrops fetali... OMIM:601927
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... ORPHA:2631
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Abnormal limb bone morphology, Hydrops fetalis, Polyhydramnios ORPHA:2204
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Thick lower lip vermilion, Gingival overgrowth, Abs... OMIM:618658
Bardet-Biedl Syndrome 8
Situs inversus totalis, Postaxial polydactyly OMIM:615985
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Redundant neck skin, Nonimmune hydrops fetalis OMIM:619003
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hydrops fetalis, Fetal akinesia sequence OMIM:618815
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Facial Clefting, Oblique, 1
Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
Infantile Sialic Acid Storage Disease
Premature birth, Cardiomegaly, Hydrops fetalis, Ascites, Metaphyseal irregularity OMIM:269920
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... OMIM:620107
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic sten... OMIM:249670
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Achondrogenesis Type 1B
Thickened nuchal skin fold, Polyhydramnios, Micromelia, Short neck, Hydrops fetalis, Short foot, ... ORPHA:93298
Achondrogenesis Type 1A
Thickened nuchal skin fold, Polyhydramnios, Micromelia, Short neck, Hydrops fetalis, Short foot, ... ORPHA:93299
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Fractured radius, Ventricular septal defect, Polyhydramnios, Decreased fibular diame... OMIM:616897
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, T... OMIM:618529
Klippel-Trénaunay Syndrome
Edema, Patent ductus arteriosus, Hydrops fetalis, Upper limb asymmetry, Abnormal tricuspid valve ... ORPHA:90308
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis OMIM:608540
Orofaciodigital Syndrome Xvii
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... OMIM:617926
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... ORPHA:93316
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... OMIM:602418
Achondrogenesis
Thickened nuchal skin fold, Polyhydramnios, Micromelia, Short neck, Hydrops fetalis, Umbilical he... ORPHA:932
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate OMIM:607361
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph... ORPHA:85166
Weyers Acrofacial Dysostosis
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... OMIM:193530
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... ORPHA:1350
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly OMIM:615982
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites ORPHA:2414
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Paten... OMIM:618142
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Fetal akinesi... OMIM:617022
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... OMIM:147891
Glycogen Storage Disease Iv
Decreased fetal movement, Polyhydramnios, Edema, Hydrops fetalis, Cardiomyopathy, Ascites OMIM:232500
Mulibrey Nanism
Single transverse palmar crease, Cardiomegaly, Myocardial fibrosis, Hydrops fetalis, Pericardial ... OMIM:253250
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly OMIM:614526
Neuraminidase Deficiency
Bone-marrow foam cells, Cardiomegaly, Facial edema, Hydrops fetalis, Epiphyseal stippling, Cardio... OMIM:256550
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... OMIM:165590
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect, Polyhydramnio... ORPHA:261344
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Short neck, Hy... ORPHA:1865
Cardiomyopathy, Familial Hypertrophic, 27
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... OMIM:618052
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Acetabular erosions, Bifid uvula, Finger joint hypermobility OMIM:601492
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d... OMIM:616331
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate OMIM:201550
Polydactyly, Postaxial, Type A6
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger OMIM:615226
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger ORPHA:231140
Hb Bart'S Hydrops Fetalis
Pericarditis, Hydrops fetalis, Polyhydramnios, Oligohydramnios ORPHA:163596
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... ORPHA:65759
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Talip... OMIM:614815
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... OMIM:217085
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Mosaic Trisomy 9
Micromelia, Polyhydramnios, Short neck, Hydrops fetalis, Finger clinodactyly, Endocardial fibroel... ORPHA:99776
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate OMIM:614120
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... OMIM:141400
Orofaciodigital Syndrome Type 2
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... ORPHA:2751
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... OMIM:614091
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Trisomy 13
Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Hydrops fetalis,... ORPHA:3378
Schneckenbecken Dysplasia
Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Short... OMIM:269250
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
W Syndrome
Hypoplasia of the ulna, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus adductus, Submu... ORPHA:2804
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra... OMIM:617405
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... OMIM:114300
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... ORPHA:90650
Birk-Barel Syndrome
Tented upper lip vermilion, Single transverse palmar crease, High palate, Short philtrum, Submuco... OMIM:612292
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr... OMIM:619142
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... OMIM:615981
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Prominent fingertip pads, Bicuspid aortic valve, Arachnodactyly, Postaxial polydactyly, Tapered f... OMIM:619721
Achondrogenesis, Type Ii
Broad long bones, Edema, Short tubular bones of the hand, Polyhydramnios, Hydrops fetalis, Short ... OMIM:200610
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ... ORPHA:2010
Polydactyly-Myopia Syndrome
Postaxial hand polydactyly ORPHA:2917
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... ORPHA:1856
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Say Syndrome
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate, Tapered finger OMIM:181180
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Sialidosis Type 2
Umbilical hernia, Ascites, Hydrops fetalis, Pedal edema ORPHA:87876
Retinitis Pigmentosa 89
Bicuspid aortic valve, Postaxial polydactyly OMIM:618955
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Postaxial polydactyly, Brachydactyly OMIM:615633
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Absent thumb OMIM:619239
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping finge... OMIM:616738
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly OMIM:615937
Split-Hand/Foot Malformation 3
Split hand, Cleft palate, High palate, Narrow mouth, Camptodactyly OMIM:246560
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Pos... OMIM:614175
Meckel Syndrome, Type 2
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd... OMIM:603194
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly, Narro... OMIM:164220
Stickler Syndrome, Type Ii
Arachnodactyly, Long fingers, High, narrow palate, Pierre-Robin sequence, Cleft palate, Bifid uvula OMIM:604841
Brachycephaly, Trichomegaly, And Developmental Delay
Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate, Thick lower li... OMIM:617412
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Bowing of the legs, Pol... OMIM:200600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... OMIM:613091
Meckel Syndrome, Type 5
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... OMIM:611561
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M... ORPHA:292
Simpson-Golabi-Behmel Syndrome, Type 2
Postaxial hand polydactyly, Broad thumb, Short finger OMIM:300209
Anencephaly 2
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Meckel Syndrome, Type 8
Polydactyly, Talipes equinovarus, Cleft palate, Cleft upper lip OMIM:613885
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Sing... OMIM:620244
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Femoral bowin... OMIM:615503
Greenberg Dysplasia
Micromelia, Polyhydramnios, Hydrops fetalis, Tetraphocomelia, Hypoplasia of the calcaneus, Neonat... OMIM:215140
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Broad hallux, Proximal placement of thumb, Tapered finger, Overlapping... ORPHA:435638
Mesomelia-Synostoses Syndrome
Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the humerus, Abnormal metacarp... ORPHA:2496
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Postaxial hand polydactyly, Foot polydactyly ORPHA:2155
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... OMIM:258850
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly OMIM:604757
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... OMIM:212093
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Microcephaly 30, Primary, Autosomal Recessive
Clinodactyly of the 5th finger, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... OMIM:617895
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... OMIM:175700
Mohr Syndrome
Syndactyly, Median cleft lip, Accessory oral frenulum, Preaxial hand polydactyly, Postaxial hand ... OMIM:252100
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Premature birth, Patent ductus arteriosus, Hy... ORPHA:354
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... OMIM:174300
Pelger-Huet Anomaly
Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd... OMIM:169400
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus, Non-midline cleft lip ORPHA:2476
Campomelia, Cumming Type
Bowing of the long bones, Micromelia, Lymphedema, Hydrops fetalis, Clubbing of toes, Oligohydramn... ORPHA:1318
Alg8-Cdg
Premature birth, Edema, Hydrops fetalis, Oligohydramnios, Talipes equinovarus, Camptodactyly, Asc... ORPHA:79325
Fetal Gaucher Disease
Decreased fetal movement, Fetal akinesia sequence, Hydrops fetalis, Stillbirth, Neonatal death ORPHA:85212
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... ORPHA:544254
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short distal phalanx of finger OMIM:609166
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... OMIM:616843
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis OMIM:618839
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Palmar telangiectasia, Ple... ORPHA:69735
Combined Oxidative Phosphorylation Deficiency 57
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Fetal pleural effusion,... OMIM:620167
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Orofaciodigital Syndrome Vi
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... OMIM:277170
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Buratti-Harel Syndrome
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb... OMIM:619314
Jeune Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Nephronophthisis 15
Polydactyly OMIM:614845
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Thin upper lip vermilion, Single transverse palmar crease, Intestinal malrotation, Ve... OMIM:614701
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hyd... OMIM:235510
Orofaciodigital Syndrome Ix
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... OMIM:258865
Mucopolysaccharidosis Type 7
Lymphedema, Metatarsus adductus, Short neck, Hydrops fetalis, Epiphyseal stippling, Abnormal hip ... ORPHA:584
Hydrolethalus
Micromelia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft, Cleft palate... ORPHA:2189
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Polyhydramnios, Short neck, Preaxial polyda... OMIM:616546
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... ORPHA:2491
Free Sialic Acid Storage Disease
Ascites, Abnormality of the upper limb, Hydrops fetalis ORPHA:834
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... OMIM:617866
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Joubert Syndrome 7
Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip vermilion, Downturned ... OMIM:618950
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect, Overlapping toe, Postaxial polydactyly, Tapered finger OMIM:613792
Scalp Defects-Postaxial Polydactyly Syndrome
Postaxial polydactyly type A ORPHA:1003
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Joubert Syndrome 24
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus OMIM:616654
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Short neck, Metatarsus adductus, Hydrops fetalis, Genu valgum, C... OMIM:253220
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s... ORPHA:404440
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... OMIM:268305
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrops fetalis... OMIM:263520
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... OMIM:615994
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Short neck, Dilated cardiomyopathy, Hydrops fetalis, Hypertrophi... OMIM:230500
Cree Mental Retardation Syndrome
Cutaneous finger syndactyly, Rocker bottom foot, Cleft soft palate OMIM:606851
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Triangular mouth, Flattened epiphysis, Genu valgum, Polydac... OMIM:607131
Long Qt Syndrome 3
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:603830
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Dilated cardiomyopathy, Abnor... ORPHA:367
Hogue-Janssen Syndrome 2
Deviation of the 5th finger, Hip dysplasia, Broad hallux, Postaxial polydactyly OMIM:616362
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Abnormal ti... ORPHA:2879
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Alg9-Cdg
Short neck, Hydrops fetalis, Right ventricular dilatation, Narrow greater sciatic notch, Abnormal... ORPHA:79328
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Cardiomyopathy, Flared iliac wing, Short long bone, Abnormal placenta morphology... ORPHA:79255
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th fi... ORPHA:397590
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... ORPHA:1071
Joubert Syndrome 23
Polydactyly OMIM:616490
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Polydactyly OMIM:602501
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... ORPHA:3472
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrops fetalis, Coarctation of aorta, Foot polydactyly, Short palm ORPHA:268249
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... ORPHA:79329
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Tibial bowing,... OMIM:166210
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand OMIM:146160
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Premature birth, Aplastic cl... ORPHA:50945
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... ORPHA:313781
Culler-Jones Syndrome
Cleft palate, Postaxial polydactyly, Cleft upper lip OMIM:615849
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... ORPHA:2754
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... ORPHA:69085
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Submucous c... ORPHA:178303
Mitochondrial Trifunctional Protein Deficiency 1
Abnormality of the amniotic fluid, Dilated cardiomyopathy, Hydrops fetalis OMIM:609015
Joubert Syndrome 27
Thick lower lip vermilion, Polydactyly OMIM:617120
Meier-Gorlin Syndrome 5
Elbow dislocation, Irregular femoral epiphysis, Patellar aplasia, Submucous cleft hard palate, Sl... OMIM:613805
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ... OMIM:608670
Loeys-Dietz Syndrome 5
Scapular winging, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosinophilic inf... OMIM:615582
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Nonimmune hydrops fetalis, Brachydactyly OMIM:618265
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Polyhydramnios, Short neck, Postaxial hand polydactyly, Patent ductus art... OMIM:613610
Joubert Syndrome 39
Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... OMIM:265380
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi... ORPHA:2438
Farber Disease
CNS foam cells, Abnormality of the hand, Short toe, Abnormality of the elbow, Hydrops fetalis, Jo... ORPHA:333
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Postaxial polydactyly OMIM:603387
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate OMIM:619122
Cardioacrofacial Dysplasia 2
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... OMIM:619143
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... ORPHA:884
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,... OMIM:618106
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Decreased fetal movement, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders,... OMIM:265000
Biemond Syndrome Type 2
Preaxial polydactyly ORPHA:141333
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Postaxial polydactyly, Patent ductus arteriosus, Hip dysplasia, Atrial... OMIM:614576
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta... OMIM:206920
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly ORPHA:64754
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Rhizomelia, Submucous cleft hard palate, Epiphyseal stippling, Abnormal pelvic gir... OMIM:222765
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Deep palmar crease, Short philtrum, Smooth philtrum, Adducted thumb ORPHA:293725
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Short toe, Cutaneous syndact... OMIM:617667
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate ORPHA:250999
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis ORPHA:88618
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, High iliac wing, Cle... ORPHA:2780
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Hip dysplasia, Abnormal tongue morphology, Polydactyly ORPHA:531151
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Premature birth, Polyhydramnios, Postaxial polydactyly, Fetal pericard... OMIM:219730
Orofaciodigital Syndrome Xv
Postaxial hand polydactyly, Broad hallux, Duplication of phalanx of hallux OMIM:617127
Rhombencephalosynapsis
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact... ORPHA:59315
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft hard palate, Small han... OMIM:612863
Joubert Syndrome 16
Polydactyly OMIM:614465
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Postaxial polydactyly, Patent ductus arteriosus, Squared iliac bones, Preaxial polyda... OMIM:616300
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... OMIM:619879
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Atrial septal ... OMIM:201000
Joubert Syndrome 32
Postaxial foot polydactyly, Hypertrophic cardiomyopathy, Postaxial hand polydactyly OMIM:617757
Cerebrocostomandibular Syndrome
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... OMIM:117650
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... OMIM:200990
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca... ORPHA:90652
Stickler Syndrome, Type I
Arachnodactyly, Irregular femoral epiphysis, Submucous cleft hard palate, Pierre-Robin sequence, ... OMIM:108300
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased fetal movement, Ulnar deviation of the hand, Premature birth, Rocker b... OMIM:208150
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal defect, Prea... OMIM:619471
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Talipes eq... ORPHA:199302
Frontonasal Dysplasia 1
Postaxial hand polydactyly, Tetralogy of Fallot, Pectoral muscle hypoplasia/aplasia, Radial devia... OMIM:136760
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Decreased fetal movement, Tapered toe, Shoulder flexion contra... OMIM:620369
Native American Myopathy
Cleft palate, Downturned corners of mouth, High palate, Talipes equinovarus, Camptodactyly, Submu... ORPHA:168572
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Cleft hard pal... OMIM:300990
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout... OMIM:619680
Joubert Syndrome 37
Postaxial polydactyly OMIM:619185
Myhre Syndrome
Brachydactyly, Narrow mouth, Submucous cleft hard palate, Gingival cleft, Cleft palate, Abnormal ... ORPHA:2588
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Bilateral fetal pyelectasis, Polyhydramnios, Short neck, Breech presentation, Pa... OMIM:300868
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Split hand, Foot polydactyly, Duodenal atresia ORPHA:3004
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral ... OMIM:607823
Bardet-Biedl Syndrome 1
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... OMIM:209900
Orofaciodigital Syndrome I
Syndactyly, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary ... OMIM:311200
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Lymphedema, Pericardial ef... ORPHA:2136
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Clinodactyly... OMIM:600325
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Joubert Syndrome 22
Postaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly OMIM:615665
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Postaxial polydactyly, Tapered finger, Patent ductus arteriosus, Small hand, Hip dislocation, Sho... OMIM:300968
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... ORPHA:2886
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... OMIM:302960
Amish Lethal Microcephaly
Cleft soft palate ORPHA:99742
3Mc Syndrome 3
Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly OMIM:248340
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... ORPHA:2753
Macrodactyly
Macrodactyly OMIM:155500
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... ORPHA:221120
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Postaxial han... ORPHA:3082
Acromelic Frontonasal Dysostosis
Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia... OMIM:603671
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Yunis-Varon Syndrome
Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Polyhydramnios,... OMIM:216340
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Complete atrioventricular canal defect, Preaxial polydactyly, Hypoplastic ... OMIM:617925
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy, Abnormality... OMIM:212065
Joubert Syndrome 14
Ventricular septal defect, Postaxial polydactyly OMIM:614424
Diamond-Blackfan Anemia
Ventricular septal defect, Nonimmune hydrops fetalis, Absent thumb, Short neck, Short thumb, Part... ORPHA:124
Congenital Sialidosis Type 2
Edema, Abnormal heart morphology, Polydactyly, Umbilical hernia, Ascites ORPHA:93400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg shortening, Proximal femora... ORPHA:397715
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly ORPHA:314655
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hydrops fetalis OMIM:224120
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Capillary Malformation-Arteriovenous Malformation
Lymphedema, Chylothorax, Nonimmune hydrops fetalis, Abnormal heart morphology ORPHA:137667
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... OMIM:609945
Carpenter Syndrome 2
Short digit, Dextrocardia, Single transverse palmar crease, Postaxial polydactyly, Situs inversus... OMIM:614976
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Abnormal dental enamel morphology, Aplastic clavicle, Abnormal metacarpal morp... ORPHA:2658
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Cleft palat... OMIM:247200
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Arterial calcification, Medial calcification of large arteries, Edema, C... ORPHA:51608
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Vent... OMIM:607323
C Syndrome
Short metacarpal, Toe syndactyly, Ventricular septal defect, Micromelia, Patent ductus arteriosus... OMIM:211750
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hydrops fetalis OMIM:613673
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilateral cleft lip, Unilate... OMIM:619103
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Cerebrooculonasal Syndrome
Postaxial polydactyly, Postaxial hand polydactyly, Narrow palate, Cleft palate, Downturned corner... OMIM:605627
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Polyd... OMIM:301022
Pallister-Hall-Like Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hip dislocation, Postaxial foot polydactyly OMIM:241800
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Hydrops fetalis, Dehydration, Abnormal heart morphology ORPHA:79282
Joubert Syndrome 15
Preaxial polydactyly OMIM:614464
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of ... OMIM:615630
Acrofacial Dysostosis, Weyers Type
Clinodactyly of the 5th finger, Overlapping fingers, Postaxial hand polydactyly, Small hand ORPHA:952
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Ge... OMIM:225500
Mckusick-Kaufman Syndrome
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Patent ductus arteriosus, Postax... ORPHA:2473
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Kinsship Syndrome
Thin upper lip vermilion, Single transverse palmar crease, Coxa valga, Thick lower lip vermilion,... OMIM:619297
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Eclabion, Thin upper lip vermilion, Cleft soft palate, Tapered finger, Long fingers, High, narrow... OMIM:619950
Dubowitz Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Anal stenosis, Toe syndactyly, Sandal... ORPHA:235
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl... OMIM:617527
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema OMIM:137940
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia... OMIM:114290
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper lip, Palmar pits, Hamarto... OMIM:109400
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Postaxial hand polydactyly OMIM:220220
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Patent ductus arteriosus, Postaxial hand polydactyly, Cone-shaped epiphysi... OMIM:617088
Acrocallosal Syndrome
Postaxial hand polydactyly, Triphalangeal thumb ORPHA:36
Acalvaria
Postaxial hand polydactyly ORPHA:945
Constricting Bands, Congenital
Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus OMIM:217100
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Elbow dislocation, High, narrow palate, Patellar apla... ORPHA:2554
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Submucous cleft hard pala... ORPHA:457279
Double Outlet Right Ventricle
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth ORPHA:3426
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula OMIM:617660
Oliver Syndrome
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Postax... ORPHA:2920
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Patent duct... OMIM:249000
Walker-Warburg Syndrome
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Thin upper lip vermilion, Deep philtrum, Thin lower lip vermilion, Elbow flexion... OMIM:619194
Galactosialidosis
Nonimmune hydrops fetalis OMIM:256540
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Brachydactyly, Abnormal distal phalanx morphology of finger, Micromelia, Aplastic clavicle, Large... ORPHA:2636
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth OMIM:154500
Desmosterolosis
Intestinal malrotation, Micromelia, Metatarsus adductus, Submucous cleft hard palate, Cleft palat... ORPHA:35107
Velocardiofacial Syndrome
Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin ... OMIM:192430
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Dental malocclusion, Cleft palate, Downturned... OMIM:616580
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... ORPHA:3138
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, High palate, Overla... OMIM:300960
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... OMIM:615873
Pearson Syndrome
Hydrops fetalis, Dehydration, Abnormal heart morphology, Corneal stromal edema, Cardiomyopathy ORPHA:699
Gaucher Disease
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... ORPHA:355
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1389
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Preaxial polydactyly, Cleft palate, Wide mouth, Duodenal... OMIM:243605
Khan-Khan-Katsanis Syndrome
Clinodactyly, Patent foramen ovale, Patent ductus arteriosus after premature birth, Postaxial pol... OMIM:618460
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis OMIM:266200
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Unilateral cleft palate, Abnormality of the dentition, Upper li... ORPHA:1299
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Popliteal Pterygium Syndrome
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... OMIM:119500
Adnp Syndrome
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe... ORPHA:404448
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Preaxia... OMIM:210710
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis OMIM:602522
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia OMIM:619227
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Abnormality of the dentition, Open bite, Deep philtrum, ... OMIM:115150
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Patent ductus arteriosu... ORPHA:464306
Loeys-Dietz Syndrome 2
Syndactyly, Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Pa... OMIM:610168
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Polyhydramnios, Aortic isthmus hypoplasia, Hypoplastic iliac win... OMIM:180849
Tolchin-Le Caignec Syndrome
Arachnodactyly, Submucous cleft hard palate, High palate, Narrow mouth, Clinodactyly of the 5th f... OMIM:618971
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Orofaci... ORPHA:77301
Neu-Laxova Syndrome
Abnormality of the philtrum, Micromelia, Submucous cleft hard palate, Cleft palate, Large hands, ... ORPHA:2671
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short palm, Atrial septal defect, Patent ductus arteriosus, Short g... OMIM:312870
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Carious teeth, Velopharyn... OMIM:223370
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Genu valgum, Downturned corners of mouth, Smooth philtrum OMIM:619321
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Ventricular septal defect, Spina bifida, Absent radius, Shor... OMIM:192350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly, Abnormal heart morpholog... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly, Abnormal heart morpholog... ORPHA:352665
Rabson-Mendenhall Syndrome
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... ORPHA:769
Meckel Syndrome, Type 4
Atrial septal defect, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydac... OMIM:611134
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pyloric stenosis, Supe... ORPHA:268261
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Rocker bottom foot, Coxa valga, Postaxial hand polydactyly, Postaxial ... OMIM:301056
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Broad hallux, Sandal gap, Persistence of primary teeth, 2-3 toe cutane... OMIM:300166
Joubert Syndrome 30
Postaxial hand polydactyly OMIM:617622
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Dental crowding, High, narrow palate, Narrow mouth, Wide mouth, Short philtrum, Wi... OMIM:300967
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Broad hallux, Postaxial polydactyly ORPHA:457284
Bardet-Biedl Syndrome 21
Postaxial hand polydactyly OMIM:617406
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand... OMIM:146510
Neurocardiofaciodigital Syndrome
Syndactyly, Patent ductus arteriosus, Double inlet left ventricle, Polydactyly, Atrial septal def... OMIM:619869
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Talipes equinovarus, Cleft soft palate OMIM:614557
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect ORPHA:75389
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Dehydration OMIM:557000
Marden-Walker Syndrome
Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Pyloric stenosis, Submucous cleft h... ORPHA:2461
Non-Distal Duplication 13Q
Postaxial hand polydactyly, Arachnodactyly ORPHA:1702
Holoprosencephaly 13, X-Linked
Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in... OMIM:301043
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Postaxial hand p... OMIM:264480
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short metacarpal, Limited elbow movement, Preaxial hand polydactyly, Enlarged metaphyses, Abnorma... ORPHA:508533
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... ORPHA:480880
Cardiofaciocutaneous Syndrome
Abnormal morphology of ulna, Submucous cleft hard palate, Genu valgum, Deep palmar crease, Palmop... ORPHA:1340
Apert Syndrome
Syndactyly, Finger syndactyly, Overriding aorta, Ventricular septal defect, Limited elbow movemen... OMIM:101200
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Patent ductus arteriosus, Coarctation of aorta, Polydactyly, Interrup... ORPHA:17
Bresek Syndrome
Neonatal death, Postaxial hand polydactyly ORPHA:85284
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Ulnar-Mammary Syndrome
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Ventricular septal ... OMIM:181450
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact... ORPHA:93271
Niemann-Pick Disease Type C
Fetal ascites, Bone-marrow foam cells, Hydrops fetalis, Foam cells, Ascites ORPHA:646
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Syndactyly, Br... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Syndactyly, Br... ORPHA:353277
Orofaciodigital Syndrome Xiv
Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial hand polydactyly, Supernumer... OMIM:615948
Meckel Syndrome, Type 7
Situs inversus totalis, Patent ductus arteriosus, Postaxial foot polydactyly, Atrial septal defec... OMIM:267010
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Postaxial polydactyly, Situ... OMIM:619534
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Postaxial hand polydac... ORPHA:2519
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... OMIM:619503
Degcags Syndrome
Syndactyly, Toe syndactyly, Ventricular septal defect, Premature birth, Polyhydramnios, Echogenic... OMIM:619488
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Talipes equinovarus OMIM:601374
Pallister-Hall Syndrome
Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Radial bowing, Patent... ORPHA:672
Hereditary Angioedema Type 1
Abnormal soft palate morphology, Abnormal uvula morphology, Tongue edema, Intestinal edema ORPHA:100050
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis ORPHA:3261
Faciocardiomelic Syndrome
Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtrum OMIM:612731
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... OMIM:301068
Genitopalatocardiac Syndrome
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Brachydactyly ORPHA:2075
Choanal Atresia
Polydactyly ORPHA:137914
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Broad uvula, Bifid uvula, Long toe, Arachnod... OMIM:619472
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb ORPHA:139471
Zttk Syndrome
Abnormality of the dentition, Submucous cleft hard palate, Small hand, Short foot, Downturned cor... OMIM:617140
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Atrial septal defect... OMIM:304120
Orofaciodigital Syndrome Xvi
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:617563
Okamoto Syndrome
Redundant neck skin, Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial... ORPHA:2729
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Brachydactyly, Elbow dislocation ORPHA:2916
Neuroocular Syndrome
Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Short uvula, Submucous... OMIM:619539
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Submucous cleft hard palate, Neoplasm of the tongue, Clinodactyly of the... ORPHA:3047
Monosomy 13Q34
Postaxial foot polydactyly, Common atrium, Postaxial hand polydactyly, Pulmonic stenosis ORPHA:96168
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Bifid uvula, Long h... ORPHA:261537
Hepatoerythropoietic Porphyria
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:95159
Mowat-Wilson Syndrome
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Widely spaced teeth, Bifid uvula, L... ORPHA:2152
Orofaciodigital Syndrome Type 3
Postaxial foot polydactyly, Postaxial hand polydactyly, Short sternum ORPHA:2752
Cerebrooculonasal Syndrome
Postaxial hand polydactyly ORPHA:66625
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Lon... ORPHA:521426
Bardet-Biedl Syndrome
Finger syndactyly, Postaxial hand polydactyly ORPHA:110
Legius Syndrome
Mitral valve prolapse, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Clinodactyly of the ... ORPHA:137605
Coffin-Siris Syndrome 12
Celiac disease, Short thumb, Slender finger, Velopharyngeal insufficiency, Submucous cleft hard p... OMIM:619325
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Natal tooth, Short femur, Thin upper lip vermilion, Camptodactyly of fin... ORPHA:3455
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Bifid uvula, Long h... ORPHA:261552
Congenital Erythropoietic Porphyria
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:79277
Orofaciodigital Syndrome Type 1
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... ORPHA:2750
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate OMIM:618891
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Arachnodactyly, Absent thumb, Cleft palate, Downturned corners of mouth, Slender long bone, Thin ... ORPHA:500150
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Cleft upper lip, Metatarsus adductus, Submucous cleft hard palate, Abnor... OMIM:607872
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Ventricular septal defect, Rhizomelia, Proximal placement of thumb, Patent duc... ORPHA:818
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus OMIM:612284
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Postaxial hand polydactyly, Deviation of fing... ORPHA:3380
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Rhizomelia, Phalangeal cone-shaped epiphyses, Postaxial hand polydactyly, Short toe, Short metata... OMIM:266920
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Restrictive Dermopathy 1
Natal tooth, Rocker bottom foot, Submucous cleft hard palate, Overtubulated long bones, Osteolyti... OMIM:275210
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe syndactyly, Camptod... ORPHA:373
Holoprosencephaly 2
Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in... OMIM:157170
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Single transverse palmar crease, Wide distal femoral metaphysis,... OMIM:269150
Distal Deletion 3P
Clinodactyly of the 5th finger, Atrioventricular canal defect, Postaxial hand polydactyly ORPHA:1620
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Postaxial hand polydactyly, Ventricular septal defect OMIM:235255
Coach Syndrome 1
Postaxial hand polydactyly OMIM:216360
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Overlapping toe, Micromelia, Proximal placement of thumb, Metatarsus a... OMIM:270400
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arachnodactyly, Patent ductus arteriosus, Bicuspid pulmonary valve, Postax... OMIM:609192
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Overlapping toe, Long fingers, Patent ductus arteriosus,... OMIM:213980
Joubert Syndrome 1
Postaxial foot polydactyly, Clinodactyly, Postaxial hand polydactyly OMIM:213300
Mckusick-Kaufman Syndrome
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly OMIM:236700
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cleft lip, Narrow palate, Cleft palate, Contracture of the proximal interphalangeal joint of the ... OMIM:618223
Hydrolethalus Syndrome 1
Ventricular septal defect, Preaxial hand polydactyly, Complete atrioventricular canal defect, Pos... OMIM:236680
Lathosterolosis
Postaxial foot polydactyly, Postaxial hand polydactyly, Toe syndactyly ORPHA:46059
Focal Dermal Hypoplasia
Short metacarpal, Toe syndactyly, Congenital hip dislocation, Postaxial hand polydactyly, Osteopa... OMIM:305600
Joubert Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:608091
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postaxial hand polydactyly, Ventricular septal defect ORPHA:1655
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Abnormal digit morphology, Median cleft lip and palate ORPHA:95494
Orofaciodigital Syndrome Type 14
Broad hallux, Ventricular septal defect, Deviation of the hallux, Patent ductus arteriosus, Posta... ORPHA:434179
Restrictive Dermopathy
Natal tooth, Camptodactyly of finger, Submucous cleft hard palate, Narrow mouth, Microcolon ORPHA:1662
Lathosterolosis
Postaxial foot polydactyly, Postaxial hand polydactyly, Toe syndactyly, Talipes equinovarus OMIM:607330
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... OMIM:235730
Meckel Syndrome
Bowing of the long bones, Situs inversus totalis, Preaxial hand polydactyly, Postaxial hand polyd... ORPHA:564
Acrocephalopolydactylous Dysplasia
Postaxial hand polydactyly, Micromelia OMIM:200995
Joubert Syndrome With Hepatic Defect
Postaxial hand polydactyly ORPHA:1454
Holoprosencephaly-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly, Abnormal cardiac septum morphology ORPHA:2166
Monosomy 9P
Abnormality of the tarsal bones, Postaxial hand polydactyly, Proximal placement of thumb, Bilater... ORPHA:261112
Arima Syndrome
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:243910
Pallister-Killian Syndrome
Congenital hip dislocation, Single transverse palmar crease, Camptodactyly of 2nd-5th fingers, Sh... OMIM:601803
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Postaxial hand polydactyly, Hip dislocation, Ectrodactyly, Neonatal death, Atrial septal defect OMIM:308205
Holoprosencephaly 9
Postaxial hand polydactyly OMIM:610829

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 Tbx2

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 Tbx2.

No publications found that use IMPC mice or data for Tbx2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Tbx2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tbx2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tbx2tm119072(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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