banner
Genes Phenotypes Help, News, Blog

Gene: Tbx2 MGI:98494

Log in to follow
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, Contracture of the proximal interphalangeal joint of the 3rd finger, Contracture of th... 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
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, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... 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 polydactyly type A, Postaxial hand polydactyly OMIM:618498
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Syngnathia
Cleft palate OMIM:119550
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Cleft palate, Pierre-Robin sequence OMIM:172880
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge... OMIM:311895
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Agenesis of permanent teeth, Cleft soft palate, Short h... OMIM:216300
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Cleft palate, Syndactyly ORPHA:294975
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula, Broad hallux, Abnormal thumb morphology, Bifid distal phalanx of the thumb, Partial ... ORPHA:2669
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula, Short distal phalanx of the thumb, Bifid distal phalanx of the thumb, Short distal p... OMIM:256200
Sprengel Deformity
Abnormal shoulder morphology, Abnormality of the shoulder girdle musculature, Cleft palate, Shoul... ORPHA:3181
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Ectrodactyly-Polydactyly
Split hand, Split foot, Postaxial hand polydactyly 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
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Short 2nd toe, Short thumb, Postaxial hand polydactyly OMIM:176305
Uvula, Bifid
Bifid uvula OMIM:192100
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Nuchal Bleb, Familial
Cystic hygroma, Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
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
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Split-Hand/Foot Malformation 1
Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala... OMIM:183600
Cleft Soft Palate
Cleft soft palate OMIM:119570
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Mesomelic arm shortening, C... OMIM:249710
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split foot, Split hand, Cleft palate OMIM:183700
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
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
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... OMIM:611263
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, Median cleft upper lip, 2-3 toe syndactyly, Split ha... DECIPHER:46
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... ORPHA:1909
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Hydrops fetalis, Polyhydramnios, Fetal pleural effusion OMIM:619462
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ... ORPHA:166016
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac... ORPHA:2919
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Upper limb undergrowth, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Chondrodysplasia, Blomstrand Type
Fetal ascites, Micromelia, Flared metaphysis, Advanced tarsal ossification, Preductal coarctation... OMIM:215045
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Ulnar Agenesis And Endocardial Fibroelastosis
Finger aplasia, Endocardial fibroelastosis, Neonatal death, Aplasia of the ulna, Hydrops fetalis OMIM:276822
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly ORPHA:2935
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent... OMIM:615996
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Long philtrum, Short toe, Ol... ORPHA:2756
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot OMIM:190680
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Short distal phalanx of finger, Short toe, Camptodactyly of finger, Submucou... ORPHA:3201
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly ORPHA:2730
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate, Camptodactyly of finger ORPHA:2521
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Singl... ORPHA:3405
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef... OMIM:192445
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip, Absent radius OMIM:179400
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Accessory oral fren... OMIM:258860
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... ORPHA:1113
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Premature birth ORPHA:2123
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Congenital Heart Block
Endocardial fibroelastosis, Pleural effusion, Oligohydramnios, Patent foramen ovale, Peripheral e... ORPHA:60041
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Abnormal heart morphology, Ascites,... ORPHA:1041
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Hallux valgus, Cleft palate, Coxa valga, Contracture of the distal interphalangeal j... OMIM:216800
Achondrogenesis, Type Ib
Hypoplastic ilia, Micromelia, Umbilical hernia, Breech presentation, Stillbirth, Polyhydramnios, ... OMIM:600972
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Transaldolase Deficiency
Biventricular hypertrophy, Coarctation of aorta, Atrial septal defect, Hydrops fetalis, Edema ORPHA:101028
Coffin-Siris Syndrome 11
Bifid uvula, Small hand, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High... OMIM:618779
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal morphology of ulna, Split h... ORPHA:971
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:2631
Cardiomyopathy, Familial Restrictive, 6
Ascites, Restrictive cardiomyopathy, Hydrops fetalis, Pulmonic stenosis OMIM:619433
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial septal defect, H... OMIM:601927
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Situs inversus totalis OMIM:615985
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Toe syndactyly, Downturned corners of mouth, Lobulated tongue, Post... OMIM:620107
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Abnormal limb bone morphology, Limb undergrowth ORPHA:2204
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Redundant neck skin, Cardiomyopathy, Nonimmune hydrops fetalis OMIM:619003
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Broad thumb, Clinodactyly, Long philtrum, Prominent fingertip pads,... OMIM:618529
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hydrops fetalis, Fetal akinesia sequence OMIM:618815
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Bifid uvula, Talipes equinovarus OMIM:132800
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Limb-Mammary Syndrome
Bifid uvula, Joint contracture of the hand, Hypodontia, Hallux valgus, Split hand, Camptodactyly,... OMIM:603543
Infantile Sialic Acid Storage Disease
Ascites, Cardiomegaly, Hydrops fetalis, Metaphyseal irregularity, Premature birth OMIM:269920
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis... ORPHA:93316
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Flared metaphysis, Hypertrophic cardiomyopathy, Ascites, Decreased fibular diameter,... OMIM:616897
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Torticollis, Abnormal 3rd fing... OMIM:249670
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate ORPHA:2736
Achondrogenesis Type 1B
Micromelia, Umbilical hernia, Talipes equinovarus, Short neck, Short foot, Thickened nuchal skin ... ORPHA:93298
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Cardiomyopathy, Nonimmune hydrops fetalis OMIM:608540
Orofaciodigital Syndrome Xvii
High, narrow palate, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of... OMIM:617926
Achondrogenesis Type 1A
Micromelia, Umbilical hernia, Short neck, Short foot, Thickened nuchal skin fold, Polyhydramnios,... ORPHA:93299
Klippel-Trénaunay Syndrome
Ascites, Upper limb asymmetry, Abnormal tricuspid valve morphology, Abnormality of the pulmonary ... ORPHA:90308
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Hydrops fetalis, Chylopericardium, Pulmonic stenosis ORPHA:2414
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solitary median ... OMIM:602418
Weyers Acrofacial Dysostosis
Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly, Clinodactyly of the 5th fi... OMIM:193530
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Postaxial foot polydactyly, Cleft palate, Polydactyly OMIM:607361
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia... ORPHA:85166
Tetramelic Monodactyly
Hand monodactyly, Split hand, Split foot, Foot monodactyly OMIM:187510
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
Achondrogenesis
Micromelia, Umbilical hernia, Short neck, Thickened nuchal skin fold, Polyhydramnios, Cystic hygr... ORPHA:932
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Heart-Hand Syndrome Type 2
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor... ORPHA:1350
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Ventricular septal defect, Postaxial ... OMIM:618142
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Cleft soft palate, Smooth philtrum, Esophageal atresia, Brachydactyly OMIM:614526
Robinow Syndrome, Autosomal Dominant 2
Mesomelia, Abnormality of the dentition, Short distal phalanx of finger, Broad thumb, Dental malo... OMIM:616331
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Glycogen Storage Disease Iv
Cardiomyopathy, Ascites, Decreased fetal movement, Talipes equinovarus, Polyhydramnios, Hydrops f... OMIM:232500
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Nonimmune hydrops fetal... OMIM:620014
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Orofaciodigital Syndrome X
Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa... OMIM:165590
Lethal Congenital Contracture Syndrome 10
Stiff neck, Overlapping fingers, Oligohydramnios, Femoral bowing, Ventricular septal defect, Card... OMIM:617022
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Mucopolysaccharidosis, Type Ix
Bifid uvula, Finger joint hypermobility, Submucous cleft hard palate, Acetabular erosions OMIM:601492
Neuraminidase Deficiency
Facial edema, Cardiomyopathy, Ascites, Bone-marrow foam cells, Epiphyseal stippling, Cardiomegaly... OMIM:256550
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ischia, Hypoplastic ilia, Increased placental thickness, Micromelia, Broad long bones... ORPHA:1865
Mulibrey Nanism
Ascites, Single transverse palmar crease, Cardiomegaly, Thickened cortex of long bones, Pericardi... OMIM:253250
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Submucous cleft hard palate, Oligodontia, ... ORPHA:2712
Trisomy 1Q
Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Increased nuchal translucency... ORPHA:261344
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Tarsal synostosis, Patellar... OMIM:147891
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Joubert Syndrome 18
Trident pelvis, Ventricular septal defect, Bowing of the long bones, Talipes equinovarus, Postaxi... OMIM:614815
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Polydactyly, Clinodactyly of the 5th finger, High palate, Upper limb asymmetry ORPHA:231140
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty... ORPHA:65759
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Preaxial foot polydactyly OMIM:235750
Hemifacial Microsomia With Radial Defects
Orofacial cleft, Triphalangeal thumb, Short mandibular rami, Non-midline cleft of the upper lip, ... OMIM:141400
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Complete atrioventricular canal defect, Postaxial pol... OMIM:619142
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Hydrolethalus Syndrome 2
Preaxial foot polydactyly, Postaxial foot polydactyly, Cleft palate, Postaxial hand polydactyly OMIM:614120
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Oligohydramnios, Hydrops fetalis, Pericarditis ORPHA:163596
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Fibrochondrogenesis 1
Hypoplastic ischia, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Rhizomelia, ... OMIM:228520
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Postaxial foot polydactyly, Bicuspid aortic valve, Atrial septal defect, ... OMIM:615981
Schneckenbecken Dysplasia
Hypoplastic scapulae, Advanced ossification of carpal bones, Umbilical hernia, Advanced tarsal os... OMIM:269250
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Mesomelia, Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Micromelia, Agenesi... OMIM:614091
Arthrogryposis, Distal, Type 3
Bifid uvula, Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or ... OMIM:114300
W Syndrome
Upper lip pit, Broad uvula, Radial bowing, Elbow dislocation, Clinodactyly, Submucous cleft hard ... ORPHA:2804
Mosaic Trisomy 9
Elbow dislocation, Endocardial fibroelastosis, Ventricular septal defect, Talipes equinovarus, Sh... ORPHA:99776
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Bicus... OMIM:619721
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial foot polydactyly, Acetabular spurs, Brachydactyly, Postaxial hand polydactyly, Trident ... OMIM:617405
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... ORPHA:90650
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Trisomy 13
Abnormal pelvic girdle bone morphology, Ectrodactyly, Bilateral single transverse palmar creases,... ORPHA:3378
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly OMIM:114150
Polydactyly-Myopia Syndrome
Postaxial hand polydactyly ORPHA:2917
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Broad first metatarsal... ORPHA:2751
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the ... ORPHA:1856
Retinitis Pigmentosa 89
Postaxial polydactyly, Bicuspid aortic valve OMIM:618955
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Carpal synostosis, Abnormality of the wrist, Tarsal synostosis, Cle... ORPHA:2010
Achondrogenesis, Type Ii
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Short long bone, Still... OMIM:200610
Adducted Thumbs Syndrome
High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate OMIM:201550
Congenital Disorder Of Glycosylation, Type Il
Ascites, Fetal skin edema, Decreased fetal movement, Short neck, Atrial septal defect, Pericardia... OMIM:608776
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
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Bra... OMIM:605282
Birk-Barel Syndrome
Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, Single transverse palmar cr... OMIM:612292
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, Complete atrioventricular canal defect, 2-3 toe synda... OMIM:217085
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Absent thumb, Submucous cleft hard palate OMIM:619239
Sialidosis Type 2
Ascites, Hydrops fetalis, Pedal edema, Umbilical hernia ORPHA:87876
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Brachydactyly, Short long bone OMIM:615633
Polydactyly, Postaxial, Type A6
Postaxial foot polydactyly, Broad phalanges of the 5th finger, Postaxial hand polydactyly OMIM:615226
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly OMIM:615937
Microphthalmia, Syndromic 8
Cleft upper lip, Split foot, Orofacial cleft, Widely-spaced maxillary central incisors, Cleft palate OMIM:601349
Split-Hand/Foot Malformation 3
Narrow mouth, Split hand, Camptodactyly, High palate, Cleft palate OMIM:246560
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Ventricular sept... OMIM:617021
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Meckel Syndrome, Type 10
Bifid uvula, Postaxial foot polydactyly, Postaxial polydactyly, Ulnar deviation of the hand, Post... OMIM:614175
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Bifid uvula, Clinodactyly, Narrow mouth, Submucous cleft hard palat... OMIM:164220
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of forearm, Short middle... OMIM:616738
Meckel Syndrome, Type 2
Intestinal malrotation, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Cleft ... OMIM:603194
Brachycephaly, Trichomegaly, And Developmental Delay
Bifid uvula, Prominent fingertip pads, Thick lower lip vermilion, Open mouth, Submucous cleft har... OMIM:617412
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Simpson-Golabi-Behmel Syndrome, Type 2
Postaxial hand polydactyly, Broad thumb, Short finger OMIM:300209
Craniosynostosis 2
Triphalangeal thumb, Cleft soft palate, Brachydactyly, Supernumerary tooth OMIM:604757
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Cleft upper lip, Preaxial polydactyly, Hamartoma of ton... OMIM:613091
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Achondrogenesis, Type Ia
Hypoplastic ischia, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe limb sho... OMIM:200600
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Cleft upper lip, Bowing of the long bones, Postaxial hand polydactyly... OMIM:611561
Lymphatic Malformation 13
Fetal pericardial effusion, Lymphedema, Ascites, Patent foramen ovale, Nonimmune hydrops fetalis,... OMIM:620244
Congenital Enterovirus Infection
Fetal ascites, Cardiomyopathy, Fetal distress, Pleural effusion, Polyhydramnios, Decreased fetal ... ORPHA:292
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Large placenta, Neonatal death, Diaphyseal undertubula... OMIM:215140
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal defect, Postaxial poly... OMIM:615503
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Ventricular septal defect, Postaxial polydactyly, Brachydactyly, Hy... OMIM:617895
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Clinodactyly of the 5th finger, Cleft soft palate, Pierre-Robin sequence OMIM:620183
Meckel Syndrome, Type 8
Talipes equinovarus, Cleft upper lip, Cleft palate, Polydactyly OMIM:613885
3P25.3 Microdeletion Syndrome
Acromesomelia, Broad thumb, Broad hallux, Overlapping toe, Ventricular septal defect, Postaxial p... ORPHA:435638
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Preaxial hand polydactyly, Mirror... ORPHA:2378
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Foot polydactyly, Postaxial hand polydactyly ORPHA:2155
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Bro... OMIM:175700
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Aplasia/Hypoplasia of the radius, Non-midline cleft of the upper lip, Cleft palate ORPHA:2476
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... OMIM:252100
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Branchial cyst, Submucous cleft hard palate OMIM:609166
Pelger-Huet Anomaly
Abnormality of the dentition, Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal,... OMIM:169400
Campomelia, Cumming Type
Clubbing of toes, Micromelia, Lymphedema, Oligohydramnios, Bowing of the long bones, Brachydactyl... ORPHA:1318
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Dumbbell-shaped long bone, Brachyda... ORPHA:440354
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Thin upp... OMIM:174300
Gm1 Gangliosidosis
Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Cardiomyopathy, Abnormal dia... ORPHA:354
Fetal Gaucher Disease
Decreased fetal movement, Neonatal death, Fetal akinesia sequence, Stillbirth, Hydrops fetalis ORPHA:85212
Alg8-Cdg
Ascites, Oligohydramnios, Talipes equinovarus, Brachydactyly, Camptodactyly, Hydrops fetalis, Ede... ORPHA:79325
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Orofaciodigital Syndrome Iii
Bifid uvula, Postaxial foot polydactyly, Microdontia, Short sternum, Postaxial hand polydactyly, ... OMIM:258850
Buratti-Harel Syndrome
Bifid uvula, Broad thumb, Velopharyngeal insufficiency, Broad hallux, Submucous cleft hard palate... OMIM:619314
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Premature birth, Cardiomyopathy, Nonimmune hydrops fetalis OMIM:618839
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Palpebral ... ORPHA:69735
Lymphatic Malformation 6
Facial edema, Generalized edema, Webbed neck, Chylothorax, Lymphedema, Ascites, Pleural effusion,... OMIM:616843
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Submucous cleft hard palate,... OMIM:614701
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Neonatal death, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Nephronophthisis 15
Polydactyly OMIM:614845
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Neonatal death, Nonim... OMIM:620167
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Accessory oral frenulum, Preaxial han... OMIM:277170
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricula... OMIM:620609
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Mucopolysaccharidosis Type 7
Umbilical hernia, Ascites, Lymphedema, Abnormal hip bone morphology, Epiphyseal stippling, Short ... ORPHA:584
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Hydrops fetalis, Decreased fetal movement OMIM:255320
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Micromelia, Submucous cleft hard palate, Posta... ORPHA:2189
Syngap1-Related Developmental And Epileptic Encephalopathy
Narrow mouth, Postaxial polydactyly, Thin vermilion border, High palate, Wide mouth ORPHA:544254
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Periorbital edema, Joint contracture of the hand, Small hand, Delayed eruption of teeth, Lymphede... OMIM:235510
Joubert Syndrome 7
Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly OMIM:611560
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Hand polydacty... OMIM:258865
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Ventricul... OMIM:146510
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... OMIM:617866
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Occipital meningocele, Postaxial polydactyly... OMIM:616546
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Suleiman-El-Hattab Syndrome
Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Clinodactyly, Single trans... OMIM:618950
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis, Abnormality of the upper limb ORPHA:834
Cree Impaired Intellectual Development Syndrome
Cutaneous finger syndactyly, Cleft soft palate, Rocker bottom foot OMIM:606851
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... ORPHA:3429
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect, Overlapping toe, Postaxial polydactyly, Tapered finger OMIM:613792
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Tetralogy of Fallot, Limited ... OMIM:147750
Scalp Defects-Postaxial Polydactyly Syndrome
Postaxial polydactyly type A ORPHA:1003
Joubert Syndrome 24
Talipes equinovarus, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:616654
Tarp Syndrome
Clinodactyly, Tetralogy of Fallot, Single transverse palmar crease, Neonatal death, Postaxial pol... OMIM:311900
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Umbilical hernia, Abnormal heart valve morphology, Genu valgum, Acetabular dyspla... OMIM:253220
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Webbed neck, Chylothorax, Lymphedema, Tetralogy of Fallot, V... OMIM:153400
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft upper lip, Bifid uvula, High palate OMIM:155145
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo... ORPHA:404440
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Triangular mouth, Flattened epiphys... OMIM:607131
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Situs inversus totalis, Polydactyly, Brac... OMIM:615994
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Disproport... OMIM:263520
Noonan Syndrome 2
Mitral valve prolapse, Ventricular septal defect, Low posterior hairline, Bicuspid aortic valve, ... OMIM:605275
Long Qt Syndrome 3
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:603830
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Short neck,... OMIM:230500
Houge-Janssens Syndrome 2
Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip dysplasia OMIM:616362
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Broad long bone diaphyses, Acetabular dysplasia, Flared iliac wing, Hydrops fetal... ORPHA:79255
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Ascites, Abnormal cardiomyocyte morphology, Nonimmune hydrops fetalis, Fe... ORPHA:367
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Polydactyly, Clinodactyly of the 5th finger, Cleft palate, Syndac... ORPHA:397590
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Tarsal synostosis, Absent phalangeal crease, Cleft palate OMIM:618469
Culler-Jones Syndrome
Postaxial polydactyly, Cleft palate, Cleft upper lip OMIM:615849
Alg9-Cdg
Ventricular septal defect, Low posterior hairline, Talipes equinovarus, Short neck, Atrial septal... ORPHA:79328
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis OMIM:153100
Joubert Syndrome 23
Polydactyly OMIM:616490
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Narrow mouth, Talipes equinovarus, Short hallux, Small thenar eminence, High palate,... OMIM:268305
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly, Ventricular septal defect OMIM:602501
Hypomelia With Mullerian Duct Anomalies
Split hand, Postaxial hand polydactyly OMIM:146160
Mgat2-Cdg
Abnormal heart morphology, Ventricular septal defect, Brachydactyly, Hydrops fetalis, Patent duct... ORPHA:79329
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Ventricular septal defect, Aplasia of the distal pha... ORPHA:3472
Osteogenesis Imperfecta, Type Ii
Abnormal pelvic girdle bone morphology, Broad long bones, Crumpled long bones, Tibial bowing, Non... OMIM:166210
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Tented upper lip vermilion, Polydactyly, Thin upper lip vermilio... ORPHA:313781
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla... ORPHA:989
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Coarctation of aorta, Foot polydactyly, Hydrops fetalis, Short palm ORPHA:268249
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Palmoplantar keratoderma, Delayed eruption of teeth, Finger syndactyly, Widely spa... ORPHA:1071
Blomstrand Lethal Chondrodysplasia
Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Natal tooth, Abnormal epiphysis morphology, F... ORPHA:50945
Alpha-Thalassemia
Pericardial effusion, Generalized edema, Hydrops fetalis, Pleural effusion ORPHA:846
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Finger syndactyly, Long philtrum, Camptodactyly of finger, Sandal g... ORPHA:178303
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate OMIM:619122
Loeys-Dietz Syndrome 5
Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Hiatus hernia, Eosinophilic infiltrat... OMIM:615582
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Finger clinodactyly, Preaxial polydactyly, Hamartoma of to... ORPHA:2754
Meier-Gorlin Syndrome 5
Clinodactyly, Elbow dislocation, Long philtrum, Slender long bone, Hypoplasia of the capital femo... OMIM:613805
Limb-Mammary Syndrome
Bifid uvula, Cleft lip, Toe syndactyly, Oligodactyly, Submucous cleft soft palate, Hypodontia, Cl... ORPHA:69085
Laurence-Moon Syndrome
Abnormality of the hand, Polydactyly OMIM:245800
Joubert Syndrome 27
Polydactyly, Thick lower lip vermilion OMIM:617120
Mitochondrial Trifunctional Protein Deficiency 1
Abnormality of the amniotic fluid, Dilated cardiomyopathy, Hydrops fetalis OMIM:609015
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Brachydactyly, Nonimmune hydrops fetalis OMIM:618265
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Patent foramen ovale, Polydactyly, Left ventricular hypertrophy, Short ... OMIM:613610
Endocrine-Cerebroosteodysplasia
Natal tooth, Sandal gap, Micromelia, Preaxial polydactyly, Thick upper lip vermilion, Fibular bow... OMIM:612651
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... ORPHA:2438
Joubert Syndrome 39
Hypoplastic left heart, Postaxial polydactyly, Joint contracture of the 5th finger OMIM:619562
Cardioacrofacial Dysplasia 2
Postaxial foot polydactyly, Atrioventricular canal defect, Genu valgum, Clinodactyly of the 5th f... OMIM:619143
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Atrial septal defect, Ventricular septal defect OMIM:603387
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Single transverse palmar crease,... OMIM:618106
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th finger, Microglossia, Exaggerated median tongue furrow, ... OMIM:608670
Biemond Syndrome Type 2
Preaxial polydactyly ORPHA:141333
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Postaxial polydactyly, Atrial septal defect, Hip dysplasia, Patent duc... OMIM:614576
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Hypoplast... OMIM:265380
Farber Disease
Short toe, Short finger, Ascites, Abnormality of the wrist, Joint swelling, CNS foam cells, Abnor... ORPHA:333
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Smooth philtrum, Deep palmar crease, Adducted thumb, Short philtrum ORPHA:293725
Multiple Pterygium Syndrome, Escobar Variant
Ulnar deviation of finger, Rocker bottom foot, Umbilical hernia, Patellar aplasia, Decreased feta... OMIM:265000
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly ORPHA:64754
1Q41Q42 Microdeletion Syndrome
Talipes equinovarus, Cleft palate, Submucous cleft hard palate, Thick vermilion border ORPHA:250999
Gaucher Disease, Perinatal Lethal
Desquamation of skin soon after birth, Ascites, Decreased fetal movement, Nonimmune hydrops fetal... OMIM:608013
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal humeral epiph... OMIM:222765
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, High iliac wing, Coarse metaphyseal trabecularization, Delayed ... ORPHA:2780
9Q21.13 Microdeletion Syndrome
Polydactyly, Hip dysplasia, Downturned corners of mouth, Abnormal tongue morphology ORPHA:531151
Fraser Syndrome 3
Short toe, Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Cutaneous syndactyly, Sonographic... OMIM:617667
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Cardiomyopathy ORPHA:88618
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Small hand, Prominent fingertip pads, Long philtrum, Anteriorly placed anus,... OMIM:612863
Orofaciodigital Syndrome Xv
Duplication of phalanx of hallux, Broad hallux, Postaxial hand polydactyly OMIM:617127
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Ventricula... OMIM:201000
Meckel Syndrome 14
Postaxial foot polydactyly, Bowing of the long bones, Postaxial polydactyly, Single ventricle, Po... OMIM:619879
Ventriculomegaly With Cystic Kidney Disease
Fetal pericardial effusion, Ventricular septal defect, Postaxial polydactyly, Polyhydramnios, Pre... OMIM:219730
Rhombencephalosynapsis
Finger syndactyly, Narrow mouth, Polydactyly, Aganglionic megacolon, Tracheoesophageal fistula, E... ORPHA:59315
Joubert Syndrome 16
Polydactyly OMIM:614465
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hypoplasia, Postaxial ... OMIM:616300
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Atrial septal defect, Posta... OMIM:619471
Holt-Oram Syndrome
Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d... OMIM:142900
Stickler Syndrome, Type I
Abnormal femoral epiphysis morphology, Bifid uvula, Irregular femoral epiphysis, Submucous cleft ... OMIM:108300
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:617757
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty... ORPHA:90652
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly pl... OMIM:117650
Frontonasal Dysplasia 1
Joint contracture of the hand, Clinodactyly, Radial deviation of finger, Tetralogy of Fallot, Pec... OMIM:136760
Fetal Akinesia Deformation Sequence 1
Slender long bone, Camptodactyly of finger, Small placenta, Ulnar deviation of the hand or of fin... OMIM:208150
Congenital Myopathy 22B, Severe Fetal
Tapered toe, Shoulder flexion contracture, Slender long bone, Ascites, Elbow flexion contracture,... OMIM:620369
Myhre Syndrome
Bifid uvula, Gingival cleft, Abnormal epiphysis morphology, Unilateral cleft lip, Abnormal lip mo... ORPHA:2588
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Submucous cleft hard palate, Thin upper lip vermilion, Brachydactyly... OMIM:619680
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Broad distal phalanx of finger, Dental crowding, Delayed eruption of teeth, Narrow m... OMIM:300990
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Palmar telangiectasia, Nonimmune hydrops fe... OMIM:607823
3Mc Syndrome 3
Tessier cleft, Clinodactyly, Cleft upper lip, Preaxial polydactyly, Radioulnar synostosis, Cleft ... OMIM:248340
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Polydactyly OMIM:616910
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Left ventricular h... OMIM:209900
Joubert Syndrome 37
Postaxial polydactyly OMIM:619185
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Cleft upper lip, Radial deviation of finger, Hamartoma of tongue, An... OMIM:311200
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Split hand, Duodenal atresia, Phocomelia ORPHA:3004
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Arachnodactyly, Brachydactyly, Rudiment... OMIM:600325
Native American Myopathy
Bifid uvula, Downturned corners of mouth, Submucous cleft soft palate, Talipes equinovarus, Campt... ORPHA:168572
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:615665
Hennekam Syndrome
Chylothorax, Delayed eruption of teeth, Finger syndactyly, Lymphedema, Ascites, Camptodactyly of ... ORPHA:2136
Amish Lethal Microcephaly
Cleft soft palate ORPHA:99742
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Elbow flexion contracture, Hip contracture, Bilateral fetal pyelectasis, Short ne... OMIM:300868
Isolated Cleft Lip
Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodontia, Hypodontia, Bilateral... ORPHA:199302
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hip dislocation, Small hand, Postaxial polydactyly, Atrial septal defect, Hip dysplasia, Short fo... OMIM:300968
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... ORPHA:77261
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Congenital Syphilis
Large placenta, Tibial bowing, Myocarditis, Hydrops fetalis, Premature birth ORPHA:499009
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Tetralogy of Fallot, Single trans... ORPHA:2886
Intellectual Developmental Disorder, Autosomal Dominant 73
Ankyloglossia, Cleft soft palate, Bilateral single transverse palmar creases, Everted lower lip v... OMIM:620450
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cystic hygroma, Hydranencephaly, Pulmonary artery atresia, Patent foramen ovale, Finger joint hyp... OMIM:620371
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
Macrodactyly
Macrodactyly OMIM:155500
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Perineal fistula, Rectal atresia, Anal atresi... ORPHA:2753
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Metatarsus valgus, ... ORPHA:3082
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Complete atrioventricular canal defect, F... OMIM:617925
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, V... OMIM:216340
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Rhizomelic arm shortening, Proximal femoral metaphyseal irregularity, Abno... ORPHA:397715
Joubert Syndrome 14
Postaxial polydactyly, Ventricular septal defect OMIM:614424
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Abnormality of the amniotic flui... OMIM:212065
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Congenital Sialidosis Type 2
Umbilical hernia, Abnormal heart morphology, Ascites, Polydactyly, Edema ORPHA:93400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... OMIM:609945
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly ORPHA:314655
Diamond-Blackfan Anemia
Webbed neck, Absent thumb, Abnormality of the thenar eminence, Short thumb, Abnormal heart morpho... ORPHA:124
Carpenter Syndrome 2
Broad thumb, Preaxial polydactyly, Cutaneous finger syndactyly, Situs inversus totalis, Bilateral... OMIM:614976
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Bifid uvula, Aplastic clavicle, Finger syndactyly, Abnormal dental enamel mo... ORPHA:2658
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Delayed eruption of teeth, Thick upper lip vermilion, Single trans... OMIM:247200
Capillary Malformation-Arteriovenous Malformation
Abnormal heart morphology, Chylothorax, Nonimmune hydrops fetalis, Lymphedema ORPHA:137667
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Syndactyly OMIM:224120
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Talipes equinovarus, Hand polydactyly, Cleft palate, Syndactyly OMIM:217100
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Nonimmune hydrops fetalis OMIM:617049
C Syndrome
Hip dislocation, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Ulnar deviation of fin... OMIM:211750
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:615989
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Aortic dissection, Fetal distress, Ascites, Medial calcification of larg... ORPHA:51608
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft lip, Thick lower lip vermilion, Submucous cleft hard palate, Unilateral cleft pa... OMIM:619103
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hydrops fetalis OMIM:613673
Mullegama-Klein-Martinez Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long philtrum, Polydactyly, Thin... OMIM:301022
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Postaxial hand polydactyly, Hip dislocation OMIM:241800
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Postaxial foot polydactyly, Finger syndactyly, Tetralogy of Fallot, Ventr... ORPHA:2473
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Long philtrum, Solitary median maxillary central inci... OMIM:605627
Joubert Syndrome 15
Preaxial polydactyly OMIM:614464
Acrofacial Dysostosis, Weyers Type
Postaxial hand polydactyly, Small hand, Clinodactyly of the 5th finger, Overlapping fingers ORPHA:952
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial foot polydactyly, Hypoplastic iliac wing, Acetabular spurs, Gen... OMIM:225500
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Ventricular septal defect, Brachydactyly, Short long bone, Postaxial hand polydactyl... OMIM:615630
Acromelic Frontonasal Dysostosis
Short tibia, Cleft upper lip, Preaxial hand polydactyly, Patellar hypoplasia, Preaxial foot polyd... OMIM:603671
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... ORPHA:1106
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Abnormal heart morphology, Dilated cardiomyopathy, Hydrops fetalis, Dehydration ORPHA:79282
Kinsship Syndrome
Downturned corners of mouth, Thick lower lip vermilion, Widely spaced teeth, Ankyloglossia, Dislo... OMIM:619297
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis, Long fingers,... OMIM:617527
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Shortening of all phalanges... OMIM:114290
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Eclabion, Downturned corners of mouth, Prominent fingertip pads, Widely spac... OMIM:619950
Dubowitz Syndrome
Abnormality of the dentition, Anal stenosis, Small hand, Toe syndactyly, Delayed eruption of teet... ORPHA:235
Basal Cell Nevus Syndrome 1
Palmar pits, Irregular ossification of hand bones, Short distal phalanx of the thumb, Cleft upper... OMIM:109400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema OMIM:137940
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Submucous cleft hard palate OMIM:617660
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Atrioventricular canal defect, Postaxial polydactyly, Short clavicles, Bra... OMIM:617088
Acrocallosal Syndrome
Triphalangeal thumb, Postaxial hand polydactyly ORPHA:36
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Long philtrum, Submucous cleft hard palate, Contracture of the proxim... ORPHA:457279
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Aplastic clavicle, Abnormal epiphysis morphology, Elbow disloca... ORPHA:2554
Acalvaria
Postaxial hand polydactyly ORPHA:945
Double Outlet Right Ventricle
Intestinal malrotation, Cleft palate, Narrow mouth, Submucous cleft hard palate ORPHA:3426
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Broad distal phalanx of finger, Hypoplasia of the capital femoral epiphysis, Elbow flexion contra... OMIM:619194
Walker-Warburg Syndrome
Bifid uvula, Cleft palate, Metatarsus valgus, Submucous cleft hard palate ORPHA:899
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Patent ductus arteriosus, Postaxial hand polydactyly OMIM:220220
Oliver Syndrome
Postaxial foot polydactyly, Short toe, Prominent fingertip pads, Camptodactyly of finger, Elbow f... ORPHA:2920
Desmosterolosis
Bifid uvula, Micromelia, Intestinal malrotation, Narrow mouth, Submucous cleft hard palate, Metat... ORPHA:35107
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid uvula, Aplastic clavicle, Bifid femur, Broad distal phalanx of finger, Micromelia, Aplasia/... ORPHA:2636
Joubert Syndrome 10
Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly OMIM:300804
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Clinodactyly, Radial deviation of finger, Camptodactyly of finger, Bo... OMIM:249000
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Open mouth, Submucous cleft hard palate, Abnormality of the hand, C... OMIM:192430
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Wide mouth, Abnormal parotid gland morphology, Cleft palate OMIM:154500
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala... ORPHA:2250
Galactosialidosis
Nonimmune hydrops fetalis OMIM:256540
Au-Kline Syndrome
Bifid uvula, Dental malocclusion, Downturned corners of mouth, Overlapping toe, Open mouth, Oligo... OMIM:616580
Mend Syndrome
Broad hallux, Overlapping fingers, Overlapping toe, Polydactyly, 2-3 toe syndactyly, Smooth philt... OMIM:300960
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Ankyloglossia, Genu valgum, Everted lower lip vermilion, High, narrow ... OMIM:615873
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Abnormality of the wrist, Absent hand, V... ORPHA:3138
Autoinflammatory Disease, Systemic, With Vasculitis
Premature birth, Cardiomegaly, Periorbital edema, Hydrops fetalis, Ascending tubular aorta aneurysm OMIM:620376
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Submucous cleft soft palate ORPHA:2282
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1389
Pearson Syndrome
Cardiomyopathy, Abnormal heart morphology, Corneal stromal edema, Hydrops fetalis, Dehydration ORPHA:699
Branchioskeletogenital Syndrome
Bifid uvula, Abnormality of the dentition, Carious teeth, Downturned corners of mouth, Anteriorly... ORPHA:1299
Stromme Syndrome
Preaxial polydactyly, Intestinal malrotation, Jejunal atresia, Wide mouth, Duodenal atresia, Clef... OMIM:243605
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Mitral valve prolapse, Patent foramen ovale, Arachnodactyly, Bicus... OMIM:610168
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Patent foramen ovale, Clinodactyly, Patent ductus arteriosus after prematu... OMIM:618460
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Thick lower lip vermilion, Single transverse palmar crease... ORPHA:404448
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis OMIM:266200
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Submucous cleft hard palate OMIM:619227
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Ventric... OMIM:210710
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Dental malocclusion, Open bite, Open mouth, Submucous cleft hard pa... OMIM:115150
Neu-Laxova Syndrome
Bifid uvula, Micromelia, Submucous cleft hard palate, Everted lower lip vermilion, Abnormality of... ORPHA:2671
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Acromesomelia, Toe syndactyly, Oligohydramnios, Ventricular septal defect,... ORPHA:464306
Tolchin-Le Caignec Syndrome
Narrow mouth, Submucous cleft hard palate, Arachnodactyly, Clinodactyly of the 5th finger, High p... OMIM:618971
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Ventricular sept... OMIM:192350
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Polyhydramnios, Hydrops fetalis, Edema, Premature birth OMIM:602522
Monosomy 9Q22.3
Palmar pits, Delayed eruption of teeth, Long philtrum, Narrow mouth, Polydactyly, Orofacial cleft... ORPHA:77301
Dubowitz Syndrome
Carious teeth, Delayed eruption of teeth, Velopharyngeal insufficiency, Agenesis of permanent tee... OMIM:223370
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Mitral valve prolapse, Ventricular septal defect, Low poster... OMIM:180849
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Ventricular septal defect, Talipes equinovarus, 2-3 finger syndactyly, Atrial septal... OMIM:312870
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Bifid uvula, Hand clenching, Dental malocclusion, Delayed eruption ... OMIM:300166
Neurocardiofaciodigital Syndrome
Tetralogy of Fallot, Polydactyly, Atrial septal defect, Double inlet left ventricle, Patent ductu... OMIM:619869
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Overlapping fingers, Ventricular septal defect, Talipes equinovarus, ... OMIM:301056
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Genu valgum, Smooth philtrum OMIM:619321
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short 5th toe, 2-4 toe cutaneous syndactyly, Widely spaced teeth, Cleft soft palate, Polydactyly,... ORPHA:268261
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Ventricular septal defect, Postaxial polydactyly, Bicuspid aortic valv... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Ventricular septal defect, Postaxial polydactyly, Bicuspid aortic valv... ORPHA:352665
Meckel Syndrome, Type 4
Bowing of the long bones, Postaxial hand polydactyly, Atrial septal defect, Ventricular septal de... OMIM:611134
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Delayed eruption of primary teeth, Abs... OMIM:149730
Gaucher Disease
Aortic valve calcification, Abnormal pericardium morphology, Abnormal heart valve morphology, Mit... ORPHA:355
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Dental crowding, Furrowed tongue, Gingival overgrowth, Polydactyly,... ORPHA:769
Bardet-Biedl Syndrome 21
Postaxial hand polydactyly OMIM:617406
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Postaxial polydactyly, Clinodactyly of the 5th finger, Broad hallux, Hip dysplasia ORPHA:457284
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly, Atrial septal defect, Ventricular septal defect ORPHA:75389
Loeys-Dietz Syndrome 1
Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Talipes equinovarus, Postaxial poly... OMIM:609192
Marden-Walker Syndrome
Bifid uvula, Camptodactyly of finger, Narrow mouth, Submucous cleft hard palate, Arachnodactyly, ... ORPHA:2461
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Dental crowding, Synostosis of the proximal phalanx of the thumb with the 1s... OMIM:300967
Non-Distal Duplication 13Q
Arachnodactyly, Postaxial hand polydactyly ORPHA:1702
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Dehydration OMIM:557000
Holoprosencephaly 13, X-Linked
Median cleft palate, Submucous cleft hard palate, Median cleft upper lip, Solitary median maxilla... OMIM:301043
Joubert Syndrome 30
Postaxial hand polydactyly OMIM:617622
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Long philtrum, Genu valgum, Submucous cleft hard palate, Abnormal morph... ORPHA:1340
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Talipes equinovarus, Cleft soft palate OMIM:614557
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Aplasia/hypoplasia involving bones of the extremi... ORPHA:508533
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Slender finger, Small hand, Congenital hip dislocation, Cardiomyopathy, Overlapping toe, Postaxia... ORPHA:480880
Apert Syndrome
Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca... OMIM:101200
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Choanal Atresia
Polydactyly ORPHA:137914
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hypertrophic cardiomyopathy, Patent foramen ovale, Polydactyly, Short hu... ORPHA:17
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Complete atrioventricular canal defect, Ventricular septal defect, 2-... OMIM:264480
Microphthalmia, Syndromic 6
Bifid uvula, Toe syndactyly, Microglossia, Finger syndactyly, Thumb contracture, Single transvers... OMIM:607932
Bresek Syndrome
Postaxial hand polydactyly, Neonatal death ORPHA:85284
Ulnar-Mammary Syndrome
Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ... OMIM:181450
Hardikar Syndrome
Unilateral cleft lip, Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Bilatera... OMIM:301068
Meckel Syndrome, Type 7
Aortic valve stenosis, Postaxial foot polydactyly, Situs inversus totalis, Patent ductus arterios... OMIM:267010
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Internally rotated shoulders, Cleft soft palate, Narrow mouth, Hip contracture, High palate, Esop... OMIM:619503
Biliary, Renal, Neurologic, And Skeletal Syndrome
Primum atrial septal defect, Unbalanced atrioventricular canal defect, Broad thumb, Secundum atri... OMIM:619534
Degcags Syndrome
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Patent foramen ovale, Ventri... OMIM:619488
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Broad thumb, Natal tooth, Ventricular septal defect, Bicuspid aortic valve... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Broad thumb, Natal tooth, Ventricular septal defect, Bicuspid aortic valve... ORPHA:353277
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Hydrops fetalis, Postax... ORPHA:93271
Niemann-Pick Disease Type C
Fetal ascites, Ascites, Bone-marrow foam cells, Foam cells, Hydrops fetalis ORPHA:646
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Patent ductus arteriosus, Atrial septal defect, Ventricular septal de... ORPHA:2519
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Viss Syndrome
Cleft soft palate, Genu valgum, Contracture of the proximal interphalangeal joint of the 2nd toe,... OMIM:619472
Orofaciodigital Syndrome Xiv
Cleft lip, Natal tooth, Broad hallux, Anteriorly placed anus, Preaxial polydactyly, Hamartoma of ... OMIM:615948
Acrocallosal Syndrome
Postaxial foot polydactyly, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Preaxia... OMIM:200990
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Ov... ORPHA:672
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis ORPHA:3261
Legius Syndrome
Clinodactyly of the 5th finger, Pulmonic stenosis, Mitral valve prolapse, Polydactyly ORPHA:137605
Genitopalatocardiac Syndrome
Brachydactyly, Abnormal cardiac septum morphology, Postaxial hand polydactyly ORPHA:2075
Faciocardiomelic Syndrome
Dental malocclusion, Slender long bone, Long philtrum, Hypoplastic pelvis, Polydactyly, Wide mouth OMIM:612731
Zttk Syndrome
Bifid uvula, Abnormality of the dentition, Small hand, Downturned corners of mouth, Narrow mouth,... OMIM:617140
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Cardiomyopathy, Abnormal heart morph... ORPHA:110
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Proximal placement of thumb, Finger syndactyly ORPHA:139471
Orofaciodigital Syndrome Xvi
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:617563
Charge Syndrome
Interrupted aortic arch, Webbed neck, Bifid femur, Delayed eruption of teeth, Umbilical hernia, T... ORPHA:138
Okamoto Syndrome
Aortic valve stenosis, Webbed neck, Abnormal heart morphology, Abnormal left ventricle morphology... ORPHA:2729
Neuroocular Syndrome 1
Short uvula, Downturned corners of mouth, Prominent fingertip pads, Widely spaced teeth, Tibial t... OMIM:619539
Monosomy 13Q34
Common atrium, Postaxial foot polydactyly, Pulmonic stenosis, Postaxial hand polydactyly ORPHA:96168
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Camptodactyly of finger, Bilateral single transverse palmar creases, Submucous cleft... ORPHA:3047
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Elbow dislocation, Postaxial hand polydactyly ORPHA:2916
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tooth malposition, Long hallux, Genu valgum, Open mouth, Arachnodactyly, Syndactyly, Ulnar deviat... ORPHA:261537
Hepatoerythropoietic Porphyria
Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis ORPHA:95159
Orofaciodigital Syndrome Type 3
Short sternum, Postaxial foot polydactyly, Postaxial hand polydactyly ORPHA:2752
Mowat-Wilson Syndrome
Tooth malposition, Genu valgum, Open mouth, Everted lower lip vermilion, Syndactyly, Enterocoliti... ORPHA:2152
Plaa-Associated Neurodevelopmental Disorder
Postaxial foot polydactyly, Single transverse palmar crease, Long fingers, Postaxial hand polydac... ORPHA:521426
Holoprosencephaly 2
Bifid uvula, Median cleft palate, Submucous cleft hard palate, Bilateral cleft palate, Median cle... OMIM:157170
Cerebrooculonasal Syndrome
Postaxial hand polydactyly ORPHA:66625
Lathosterolosis
2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, 2-4 toe cutaneous syndactyly, Talipes e... OMIM:607330
Coffin-Siris Syndrome 12
Slender finger, Broad thumb, Hip subluxation, Velopharyngeal insufficiency, Short thumb, Submucou... OMIM:619325
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tooth malposition, Long hallux, Genu valgum, Open mouth, Arachnodactyly, Syndactyly, Ulnar deviat... ORPHA:261552
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate OMIM:618891
Orofaciodigital Syndrome Type 1
Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty... ORPHA:2750
Congenital Erythropoietic Porphyria
Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis ORPHA:79277
Chromosome 1P36 Deletion Syndrome, Distal
Short 5th finger, Bifid uvula, Long philtrum, Cleft upper lip, Camptodactyly of finger, Submucous... OMIM:607872
Smith-Lemli-Opitz Syndrome
Hip dislocation, Aplasia/Hypoplasia of the radius, Rhizomelia, Postaxial foot polydactyly, Finger... ORPHA:818
Meckel Syndrome, Type 6
Talipes equinovarus, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:612284
Alstrom Syndrome
Polydactyly, Dilated cardiomyopathy, Atherosclerosis OMIM:203800
Wiedemann-Rautenstrauch Syndrome
Abnormality of the dentition, Hypoplastic ilia, Natal tooth, Downturned corners of mouth, Camptod... ORPHA:3455
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Rhizomelia, Phalangeal cone-shaped epiphyses, Short toe, Clinodactyly of the 2nd finger, Absent m... OMIM:266920
Trisomy 18
Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Bilateral single tran... ORPHA:3380
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Absent thumb, Downturned corners of mouth, Slender long bone, Submucous cleft soft p... ORPHA:500150
Restrictive Dermopathy 1
Rocker bottom foot, Natal tooth, Overtubulated long bones, Narrow mouth, Submucous cleft hard pal... OMIM:275210
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal digit morphology, Median cleft palate, Polydactyly ORPHA:95494
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Toe syndactyly, Broad thumb, Finger syndactyly, Cardiomyopathy, Short... ORPHA:373
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... OMIM:269150
Distal Deletion 3P
Atrioventricular canal defect, Clinodactyly of the 5th finger, Postaxial hand polydactyly ORPHA:1620
Coach Syndrome 1
Postaxial hand polydactyly OMIM:216360
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Postaxial hand polydactyly, Ventricular septal defect OMIM:235255
Joubert Syndrome 1
Postaxial foot polydactyly, Clinodactyly, Postaxial hand polydactyly OMIM:213300
Smith-Lemli-Opitz Syndrome
2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, Short toe, Short thumb, Micromelia, Hyp... OMIM:270400
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Overlapping toe, Talipes equinovarus, Atrial septal defect, Long fingers, Postaxial hand polydact... OMIM:213980
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, Postaxial hand polydactyly OMIM:236700
Lathosterolosis
Toe syndactyly, Postaxial foot polydactyly, Postaxial hand polydactyly ORPHA:46059
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Complete atrioventricular canal defect, Ventri... OMIM:236680
Joubert Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:608091
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cleft lip, Contracture of the proximal interphalangeal joint of the 3rd finger, Contracture of th... OMIM:618223
Focal Dermal Hypoplasia
Midclavicular hypoplasia, Congenital hip dislocation, Finger aplasia, Toe syndactyly, 3-4 finger ... OMIM:305600
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postaxial hand polydactyly, Ventricular septal defect ORPHA:1655
Orofaciodigital Syndrome Type 14
Postaxial foot polydactyly, Broad hallux, Deviation of the hallux, Ventricular septal defect, Dup... ORPHA:434179
Restrictive Dermopathy
Microcolon, Natal tooth, Camptodactyly of finger, Narrow mouth, Submucous cleft hard palate ORPHA:1662
Mowat-Wilson Syndrome
Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of teeth, Widely spaced... OMIM:235730
Meckel Syndrome
Postaxial foot polydactyly, Preaxial hand polydactyly, Situs inversus totalis, Bowing of the long... ORPHA:564
Joubert Syndrome With Hepatic Defect
Postaxial hand polydactyly ORPHA:1454
Acrocephalopolydactylous Dysplasia
Micromelia, Postaxial hand polydactyly OMIM:200995
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Postaxial hand polydactyly ORPHA:2166
Monosomy 9P
Abnormality of the tarsal bones, Proximal placement of thumb, Bilateral single transverse palmar ... ORPHA:261112
Arima Syndrome
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:243910
Pallister-Killian Syndrome
Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Ventricular septal defect, Atrial ... OMIM:601803
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ectrodactyly, Neonatal death, Atrial septal defect, Postaxial hand polydactyly, Hip dislocation 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter