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Gene: Wdr35 MGI:1921932

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

WD repeat domain 35

Synonyms:

4930459M12Rik

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 Wdr35 mutations

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

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

Human diseases associated with Wdr35 (4 diseases)
Human diseases predicted to be associated with Wdr35 (717 diseases)

The table below shows human diseases associated to Wdr35 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Micrognathia, Pectus excavatum, Postaxial hand polydactyly, Polydactyly, ...	OMIM:613610
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Pectus excavatum, Abnormal diaphysis morphology, Na...	ORPHA:1515
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Micromelia, Esophageal atresia, Abnormal pelvis bone ossification, Preaxial hand pol...	ORPHA:93271

The table below shows human diseases predicted to be associated to Wdr35 by phenotypic similarity.

Disease	Matching phenotypes	Source
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Acropectoral Syndrome	Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly	ORPHA:85203
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Thoracic Dysostosis, Isolated	Pectus excavatum, Short ribs, Bell-shaped thorax	OMIM:187750
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl...	ORPHA:2141
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Abnormal lung morphology, Cleft palate, Upper limb phocom...	ORPHA:294975
Acropectoral Syndrome	Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T...	OMIM:605967
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Short ribs, Sprengel a...	OMIM:173800
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring...	OMIM:156530
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Abnormal pelvic g...	ORPHA:1803
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Thoracopelvic Dysostosis	Short ribs	OMIM:187770
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Hitchhiker thumb, Single transverse palmar crease, Spina bif...	ORPHA:2437
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Pseudoarthrosis	OMIM:618155
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Shor...	ORPHA:1120
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Thoracic kyphoscoliosis, Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, ...	OMIM:613330
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia...	ORPHA:380
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,...	OMIM:601163
Acro-Renal-Mandibular Syndrome	Finger syndactyly, Hypoplasia of the ulna, Hypoplastic scapulae, Abnormal clavicle morphology, Ap...	ORPHA:958
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidis...	OMIM:615524
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Nonimmune hydrops fetalis, Polyhydramnios, Upper limb undergrowth, Hydrops fetalis, Pulmonary hyp...	OMIM:613124
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hernia, Pectus excavatum,...	ORPHA:2847
Vacterl/Vater Association	Omphalocele, Occipital encephalocele, Finger syndactyly, Congenital diaphragmatic hernia, Polyhyd...	ORPHA:887
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophage...	OMIM:314390
Schisis Association	Encephalocele, Omphalocele, Spina bifida, Micromelia, Congenital diaphragmatic hernia, Anencephal...	ORPHA:63862
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn...	OMIM:102510
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal...	OMIM:215045
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Atria...	ORPHA:261272
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Lateral clavicle hook, Sna...	OMIM:269250
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle hook, Hypopl...	OMIM:617895
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle...	ORPHA:2631
Lethal Congenital Contracture Syndrome 11	Polyhydramnios, Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Bilateral ...	OMIM:617194
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F...	OMIM:250420
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Diaphanospondylodysostosis	Missing ribs, Myelomeningocele, Short thorax, Narrow pelvis bone, Enlarged thorax	ORPHA:66637
8p23.1 deletion syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial septal defect,...	DECIPHER:39
Cutis Laxa-Marfanoid Syndrome	Abnormal heart valve morphology, Arachnodactyly, Congenital diaphragmatic hernia, Flexion contrac...	ORPHA:171719
Fetal Encasement Syndrome	Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Lo...	OMIM:613630
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Metaphyseal widening, Squared iliac bones, Short long bone,...	OMIM:618961
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Missing ribs, Anorectal anomaly, Abnormal rib morph...	ORPHA:1834
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hi...	OMIM:241800
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Congenital diaphragmatic hernia, Hip dislocation, Abnormal heart morphology, Emph...	OMIM:614100
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Postaxial polydactyly, ...	OMIM:617866
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ...	OMIM:615630
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Narrow chest, Short ribs, Umbilical hernia	OMIM:600972
Seckel Syndrome 4	11 pairs of ribs, Steep acetabular roof	OMIM:613676
Epidermolysis Bullosa With Diaphragmatic Hernia	Palmoplantar blistering, Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology...	ORPHA:1842
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Narrow chest, Short phalanx of finger, Broad metacarpals, Hypoplastic c...	ORPHA:56304
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Tracheoesophageal fistula, Abnormal cardiac septum morphology, Tracheal ...	ORPHA:93941
Congenital Diaphragmatic Hernia	Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pro...	ORPHA:2140
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Increased connective tissue, Edema of the ...	ORPHA:171430
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Flexi...	OMIM:617468
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Femoral retroversion, Knee flexion contracture, Talipes equ...	OMIM:616531
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Abnormal clavicle morphology, Sandal gap, Camptodactyly ...	ORPHA:1520
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp...	OMIM:228520
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Short thorax, Abnorma...	ORPHA:85166
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal ...	OMIM:224400
Achondrogenesis, Type Ia	Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sa...	OMIM:200600
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Co...	ORPHA:1488
Achondrogenesis Type 2	Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ...	ORPHA:93296
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Polyhydramnios, Patent ductus arteriosus, Flexi...	OMIM:616867
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Abnormal finger morphology, Abnormal lung lobation, Gastroesopha...	ORPHA:2538
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Polyhydramnios, Metaph...	OMIM:263210
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasia, Coxa vara, ...	OMIM:602557
Delpire-Mcneill Syndrome	Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia	OMIM:619083
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl...	OMIM:613091
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, M...	ORPHA:1263
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Polyhydramnios, Increase...	OMIM:255320
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Torticollis, Overriding aorta, Ventricular septal defect, Cardio...	OMIM:617022
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Renal Tubular Dysgenesis	Bilateral single transverse palmar creases, Polyhydramnios, Pulmonary hypoplasia, Tetralogy of Fa...	ORPHA:3033
Congenital Contractural Arachnodactyly	Arachnodactyly, Intestinal malrotation, Camptodactyly of finger, Flexion contracture, Tracheoesop...	ORPHA:115
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costoch...	OMIM:187600
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Cleft p...	OMIM:256050
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Abnormal rib morphology,...	ORPHA:3068
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Ma...	ORPHA:99811
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Short femur, Fractured radius, Ventricular septal defect, Polyhydramnios,...	OMIM:616897
Acces Syndrome	Recurrent respiratory infections, Hip dislocation, Tracheoesophageal fistula, Hip dysplasia, Spli...	OMIM:619959
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Congenital diaphragmatic hernia	ORPHA:261102
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal rib morphology, Bell-shaped t...	ORPHA:2021
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Infantile Myofibromatosis	Intestinal obstruction, Abnormal thorax morphology, Tracheoesophageal fistula, Neoplasm of the lu...	ORPHA:2591
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Cong...	ORPHA:2311
Trisomy 1Q	Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic he...	ORPHA:261344
Pentalogy Of Cantrell	Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita...	ORPHA:1335
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, 2-3 toe syndactyly, Oligohydramnios, Cutaneous syndactyly, Still...	OMIM:236500
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,...	OMIM:225500
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Edema, Abnormal thorax morphology, Pulmon...	OMIM:253310
Acrocallosal Syndrome	Abnormal clavicle morphology, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, P...	ORPHA:36
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Polyhydramn...	ORPHA:1692
Phosphoribosylaminoimidazole Carboxylase Deficiency	Polyhydramnios, Missing ribs, Bilateral cryptorchidism, Esophageal atresia, Tracheoesophageal fis...	OMIM:619859
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio...	OMIM:613320
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Tr...	ORPHA:957
Serkal Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Pulmonary...	ORPHA:139466
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p...	OMIM:250220
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Omphalocele, Recurrent respiratory infections, Overlapping toe, Intestinal malrotation,...	OMIM:618316
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Pulmonary hypoplasia, Neonatal death, Increased variability in muscle fiber diamete...	OMIM:614096
Short-Rib Thoracic Dysplasia 12	Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Thoracic dysplasia, Narrow chest, Sh...	OMIM:269860
Three M Syndrome 1	Scapular winging, Pectus excavatum, Short thorax, Hip dislocation, Slender long bone, Short 5th f...	OMIM:273750
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Micromelia, Aplastic clavicle, Postaxial polydactyly, Congenital diaphragmat...	OMIM:616546
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia, Intestinal malrotation, Polyhydramnios, Oligohydramnios	ORPHA:3032
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Abnorma...	ORPHA:1166
Greenberg Dysplasia	Micromelia, Beaded ribs, Polyhydramnios, Abnormal lung lobation, Hydrops fetalis, Tetraphocomelia...	OMIM:215140
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo...	OMIM:252600
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Tapered finger, Pectus excavatum, Recurrent upper respiratory tr...	ORPHA:284180
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung lobation, Abnorma...	ORPHA:2063
Tonne-Kalscheuer Syndrome	Decreased testicular size, Congenital diaphragmatic hernia, Cryptorchidism, Velopharyngeal insuff...	OMIM:300978
15Q24 Microdeletion Syndrome	Brachydactyly, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morph...	ORPHA:94065
Prieto Syndrome	11 pairs of ribs, Coxa valga, Talipes equinovarus, Radial deviation of finger, Clinodactyly	OMIM:309610
Odontochondrodysplasia 1	Recurrent respiratory infections, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal wideni...	OMIM:184260
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Achondrogenesis, Type Ii	Barrel-shaped chest, Microretrognathia, Broad long bones, Short tubular bones of the hand, Short ...	OMIM:200610
Multiple Pterygium Syndrome, X-Linked	Edema, Polyhydramnios, Flexion contracture, Cleft palate, Thin ribs, Amyoplasia, Hypoplastic hear...	OMIM:312150
Thanatophoric Dysplasia	Atrial septal defect, Micromelia, Polyhydramnios, Abnormal sacroiliac joint morphology, Patent du...	ORPHA:2655
Dysosteosclerosis	Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Abnormal metaphyseal trabeculation, Fla...	OMIM:224300
Congenital Tracheal Stenosis	Abnormal bronchus morphology, Ventricular septal defect, Polyhydramnios, Abnormal stomach morphol...	ORPHA:141127
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism...	ORPHA:1865
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Renal Agenesis, Bilateral	Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine morphology, Pulmonary hy...	ORPHA:1848
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C...	OMIM:208500
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Gastroesophageal reflux, Hernia...	ORPHA:2092
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Micrognathia, Rocker bottom foot, Camptodactyly	OMIM:618393
Esophageal Atresia	Bronchitis, Polyhydramnios, Gastrointestinal dysmotility, Anorectal anomaly, Laryngotracheomalaci...	ORPHA:1199
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femo...	OMIM:600920
Kagami-Ogata Syndrome	Omphalocele, Atrial septal defect, Inguinal hernia, Long clavicles, Ventricular septal defect, Di...	OMIM:608149
Multiple Pterygium Syndrome, Lethal Type	Edema, Polyhydramnios, Flexion contracture, Cleft palate, Thin ribs, Amyoplasia, Hypoplastic hear...	OMIM:253290
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Abnormal lung lobation, Posterior ...	OMIM:265380
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Methimazole Embryofetopathy	Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula, Polyhydramnios	ORPHA:1923
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab...	ORPHA:2879
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Congenital diaphragmatic hernia, Wrist swelling, Osteolysis involvin...	OMIM:166300
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Cupped ribs, Elbow flexion contract...	ORPHA:1145
Congenital Tracheomalacia	Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Broncho...	ORPHA:95430
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary hypoplasia	OMIM:619003
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Patent foramen ovale, Patent ductus arter...	OMIM:616866
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Polyhydramnios, Abnormality of the elbow, Abnormal rib morphology, Slend...	ORPHA:1486
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnorm...	ORPHA:2911
Thoraco-Abdominal Enteric Duplication	Meningocele, Camptodactyly of finger, Missing ribs	ORPHA:1759
Vacterl With Hydrocephalus	Inguinal hernia, Femoral hernia, Spina bifida, Polyhydramnios, Esophageal atresia, Cryptorchidism...	ORPHA:3412
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Rhombencephalosynapsis	Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact...	ORPHA:59315
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Atrial septal defect, Tetra...	OMIM:300887
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Hypoplastic s...	OMIM:308050
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Pectus excavatum, Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard pa...	OMIM:619227
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ...	ORPHA:210122
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Absent thumb, Esophageal atresia, Patent ductus arteriosus, Abnormal l...	OMIM:300514
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Thoracic dysplasia, Narrow chest, Atria...	OMIM:263520
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ...	OMIM:616300
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Hydrops fetali...	OMIM:265000
Alg3-Cdg	Abnormality of the gastrointestinal tract, Lipodystrophy, Metaphyseal chondrodysplasia, Abnormal ...	ORPHA:79321
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Pectus carinatum, Abnormal calcification of the car...	OMIM:271665
Achondrogenesis Type 1B	Femoral hernia, Micromelia, Polyhydramnios, Short thorax, Abnormal rib morphology, Hydrops fetali...	ORPHA:93298
Sirenomelia	Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia	ORPHA:3169
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Intestinal malrotation, Abnormal rib morpho...	ORPHA:3035
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Brachydactyly, Long clavicles, Abnormal acetabulum morphology, Small cer...	ORPHA:397715
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, ...	ORPHA:1839
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Tracheoesophageal fistula, Abnormal skeletal muscle morphology, Neoplas...	ORPHA:142
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal r...	ORPHA:1354
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Congenital diaphragmatic herni...	ORPHA:251071
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Hydrops fe...	ORPHA:268249
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Achondrogenesis Type 1A	Multiple rib fractures, Femoral hernia, Micromelia, Polyhydramnios, Short thorax, Hydrops fetalis...	ORPHA:93299
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Crypto...	ORPHA:77298
Emanuel Syndrome	Recurrent respiratory infections, Inguinal hernia, Congenital hip dislocation, Torticollis, Intes...	OMIM:609029
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ...	ORPHA:2143
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Flared, irregular rib ends, Micromelia, Coxa vara	ORPHA:168555
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi...	ORPHA:1112
Fryns Syndrome	Omphalocele, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Poly...	ORPHA:2059
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Trident ...	OMIM:100800
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi...	OMIM:200980
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Tracheal atresia, Polyhydram...	ORPHA:3346
Coffin-Siris Syndrome 3	Inguinal hernia, Central diaphragmatic hernia, Short distal phalanx of the 5th finger, Cleft pala...	OMIM:614608
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla...	OMIM:201170
Limb Body Wall Complex	Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o...	ORPHA:2369
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ...	ORPHA:3144
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Synostosis of carpal bones, Encepha...	ORPHA:90652
Metaphyseal Chondrodysplasia, Jansen Type	Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia, Clubbing o...	OMIM:156400
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic herni...	OMIM:219100
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Spina bifida occulta	ORPHA:1797
Atelosteogenesis Type I	Short femur, Rhizomelia, Polyhydramnios, Malrotation of colon, Abnormal ossification involving th...	ORPHA:1190
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Pectus excavatum, Triceps aplasia, Patell...	OMIM:161200
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Emanuel Syndrome	Congenital hip dislocation, Multiple joint contractures, Congenital diaphragmatic hernia, Gastroe...	ORPHA:96170
Meier-Gorlin Syndrome 1	Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Pectus carinatum, Cutaneous finger synda...	OMIM:224690
Fanconi Anemia	Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5th finger, Atri...	ORPHA:84
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Anencepha...	OMIM:313850
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Pulmonary hypoplasia	OMIM:615228
Vater/Vacterl Association	Occipital encephalocele, Syndactyly, Ventricular septal defect, Spina bifida, Absent radius, Esop...	OMIM:192350
Marden-Walker Syndrome	Decreased muscle mass, Inguinal hernia, Arachnodactyly, Dextrocardia, High, narrow palate, Pylori...	OMIM:248700
Spondylocostal Dysostosis 5	Pectus carinatum, Posterior rib fusion, Supernumerary ribs, Missing ribs	OMIM:122600
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Congenital diaphragmatic hern...	ORPHA:1001
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Ventricular septal defect, Congenital diaphragmatic hernia, Pectus excavatum, Cryptor...	OMIM:612530
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Dextrocardia, Secundum atria...	ORPHA:2257
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Narrow c...	OMIM:119600
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Syndactyly, Ventricular septal defect, Single transver...	ORPHA:1708
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia, Small hand, Short...	OMIM:617450
Chromosome 13Q33-Q34 Deletion Syndrome	Single transverse palmar crease, Anteriorly placed anus, High palate, Narrow chest, Distally plac...	OMIM:619148
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short sternu...	OMIM:620076
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo...	ORPHA:93351
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Opitz Gbbb Syndrome	Omphalocele, Atrial septal defect, Inguinal hernia, Ventricular septal defect, Congenital diaphra...	ORPHA:2745
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Rib fusion, Cleft palate, Abnorm...	ORPHA:261197
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Pectus carinatum, Shoulder ...	OMIM:245600
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Microphthalmia, Syndromic 9	Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Pate...	OMIM:601186
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cleft pala...	OMIM:611812
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Diaphanospondylodysostosis	Inguinal hernia, Missing ribs, Increased nuchal translucency, Cleft palate, Bell-shaped thorax, N...	OMIM:608022
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Polyhydramnios, Flexion contracture, High palate, Generalized amyotrophy, Sca...	OMIM:620369
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia, Oligohydramnios	OMIM:616733
Trisomy 18	Congenital diaphragmatic hernia, Hernia, Atrial septal defect, Bilateral single transverse palmar...	ORPHA:3380
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Abnormal lung lobation, Femoral bowing, Hypertrophic cardiomyopathy, Stil...	OMIM:615415
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Rectovagin...	ORPHA:1780
Carpenter Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Patent...	ORPHA:65759
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Inguinal hernia, Bronchomalacia, Single transverse palmar cr...	OMIM:613177
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Mesocard...	OMIM:618280
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
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cleft palate, For...	OMIM:251230
Feingold Syndrome 1	Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Esophageal atresi...	OMIM:164280
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Arachnodactyly, Intestinal malrotation, Sandal gap, Congenital diaphragmati...	OMIM:617602
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Down-sloping shoulders, Spina bifida, Palmar pits, Irregular o...	OMIM:109400
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Polyhydramnios...	OMIM:616503
Achondrogenesis	Inguinal hernia, Micromelia, Polyhydramnios, Short thorax, Hydrops fetalis, Aplasia/Hypoplasia of...	ORPHA:932
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Short th...	ORPHA:50945
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi...	ORPHA:1647
Townes-Brocks Syndrome 1	Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Atrial septal defect, 2-4 finger ...	OMIM:107480
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric...	ORPHA:392
Hyperparathyroidism, Transient Neonatal	Short femur, Metaphyseal spurs, Undulate ribs, Thin ribs, Femoral bowing, Short long bone, Short ...	OMIM:618188
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Hypophosphatasia, Infantile	Micromelia, Bowing of the legs, Short ribs, Metaphyseal cupping, Short lower limbs, Rachitic rosary	OMIM:241500
Scimitar Syndrome	Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Hernia, Atria...	ORPHA:185
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Polyhydramnios, Cryp...	ORPHA:994
Zaki Syndrome	Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Patent ductus arteriosus, Ectrodac...	OMIM:619648
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Narrow chest, Brachydactyly	OMIM:613819
Spondylospinal Thoracic Dysostosis	Arthrogryposis multiplex congenita, Short thorax, Pulmonary hypoplasia	OMIM:601809
Prune Belly Syndrome	Recurrent respiratory infections, Congenital hip dislocation, Ventricular septal defect, Intestin...	ORPHA:2970
Congenital Myopathy 17	Diaphragmatic eventration, Overlapping toe, Polyhydramnios, Tapered finger, Pectus excavatum, Res...	OMIM:618975
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Esophageal diverticulum, Hamartoma of tongue, Postaxial polydactyly, Lateral clavicle hook, Horiz...	OMIM:617925
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Vertebral hypoplasia, Encephalocele,...	OMIM:108720
Fryns Syndrome	Single transverse palmar crease, Proximal placement of thumb, Polyhydramnios, Prominent fingertip...	OMIM:229850
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Skeletal muscle atrophy, Inguinal hernia, Camptodactyly of finger, Pectus exca...	ORPHA:2990
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Pulmonary hypoplasia, Neonatal death	OMIM:245650
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Atrial septal defect, Hypoplastic tricuspid valve, Patent forame...	OMIM:600001
Noonan Syndrome 12	11 pairs of ribs, Pectus excavatum, Proximal placement of thumb	OMIM:618624
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the...	OMIM:609616
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Polyhydramnios, Cryptorchidism, 2...	OMIM:620025
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Micromelia, Cryptorchidism, Short long bone, T...	OMIM:224410
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Omphalocele, Spina bifida, Congenital diaphragmatic ...	ORPHA:991
Ferguson-Bonni Neurodevelopmental Syndrome	Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Pectus excavatum, High palate...	OMIM:619699
Meckel Syndrome 14	Occipital encephalocele, Bowing of the long bones, Syndactyly, Postaxial polydactyly, Postaxial h...	OMIM:619879
Pyknoachondrogenesis	Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnormal iliac wing morphology, ...	ORPHA:3003
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Talip...	ORPHA:250999
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal rib morphology, Cleft palate, Aplasia/Hypoplasia of...	ORPHA:2635
13Q12.3 Microdeletion Syndrome	Recurrent respiratory infections, Congenital diaphragmatic hernia, Cryptorchidism, Upper eyelid e...	ORPHA:412035
Agnathia-Otocephaly Complex	Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pu...	OMIM:202650
Meacham Syndrome	Stillbirth, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal defect,...	OMIM:608978
Intellectual Disability-Strabismus Syndrome	Atrial septal defect, Rocker bottom foot, Congenital diaphragmatic hernia, Polyhydramnios, Crypto...	ORPHA:363528
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Donnai-Barrow Syndrome	Omphalocele, Diaphragmatic eventration, Ventricular septal defect, Intestinal malrotation, Congen...	OMIM:222448
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Cutaneous fin...	OMIM:606851
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Hiatus...	OMIM:208050
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Polyhydramnios, High, narrow palate, Congenital contrac...	OMIM:208150
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hernia, Congenital...	OMIM:304110
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu...	OMIM:142900
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus, Pulmonary hypoplasia	OMIM:618174
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Polyhydramnios, Abnormal lung lobat...	ORPHA:818
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Clinodactyly of the 5th finger	ORPHA:2759
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Dextrocardia, Patent ductus arteriosus, Tracheoesophageal fistula, High palate, Talipes equinovar...	OMIM:277380
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Cryptorchidis...	ORPHA:3097
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia, Short dist...	OMIM:620073
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ...	OMIM:613803
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Hypoplasia of first ribs, Foot ...	OMIM:154400
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes...	OMIM:607143
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia	OMIM:602196
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, P...	OMIM:301030
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Esophageal atresia, Short thumb, Preaxial hand polydactyly, Partial ...	OMIM:227646
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Polyhydramnios, Flexion contracture, Tibial bowing, Narrow chest...	ORPHA:96334
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Narrow...	OMIM:304120
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Atrial septal defect, Anal stenosis, Congenital diaphragmatic hernia, Polyhydramnios, Patent duct...	OMIM:614080
Braddock Syndrome	Pectus excavatum, Preaxial hand polydactyly, Micrognathia, Missing ribs	ORPHA:52047
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth ...	OMIM:601559
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Arachnodactyly, Pectus carinatum, Aplasia/Hypoplasia of the lun...	ORPHA:1548
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Micrognathia, Metatarsus adductus, Calcaneovalgus deformity, E...	OMIM:616266
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Congenital diaphragmati...	OMIM:122470
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Bilateral lung agenesis, Abnormal cardiac septum morphology, Neonatal d...	OMIM:601612
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Postaxial hand polydactyly, Cleft palate, Abnorm...	ORPHA:2075
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Polyhydramnios, High, narrow palate,...	ORPHA:373
Martinez-Frias Syndrome	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden...	OMIM:601346
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Seckel Syndrome 9	Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pol...	OMIM:616777
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Short metatarsa...	OMIM:617102
Autosomal Recessive Amelia	Polyhydramnios, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morpholo...	ORPHA:1027
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges ...	OMIM:113000
Thanatophoric Dysplasia Type 2	Encephalocele, Micromelia, Polyhydramnios, Patent ductus arteriosus, Short thorax, Increased nuch...	ORPHA:93274
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cryptorchidism, Cleft palate, A...	ORPHA:95706
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta, Shoulder muscle hypoplasia	OMIM:184400
Distal Triplication 15Q	Arachnodactyly, Patent ductus arteriosus, Flexion contracture, Abnormal heart morphology, Hydroce...	ORPHA:314588
Charge Syndrome	Abnormal palmar dermatoglyphics, Polyhydramnios, Secundum atrial septal defect, Hand monodactyly,...	OMIM:214800
Oligomeganephronia	Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Secundum atrial sept...	ORPHA:2260
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Split hand, Abnormal rib morphology, Oligohydramnios, Cleft palate...	ORPHA:2145
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:2790
Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Single transverse palmar crease, Lymphedema, Metaphyseal widening, F...	ORPHA:536471
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Pseudobul...	OMIM:618651
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Polyhydramnios, Abnormal lung lobation, Pectus carinatum, Narrow...	OMIM:312870
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, 2-3 toe ...	ORPHA:1596
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Rhizomelia, Narrow chest	OMIM:617661
Lowry-Maclean Syndrome	Inguinal hernia, Single transverse palmar crease, Congenital diaphragmatic hernia, Bilateral cryp...	ORPHA:2409
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Polyhydramnios, Abnormal limb bone morphology, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, ...	ORPHA:2204
Penile Agenesis	Ventricular septal defect, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal f...	ORPHA:49
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micro...	OMIM:600325
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Postaxial polydactyly	OMIM:612913
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ...	ORPHA:2255
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short phalanx of fi...	OMIM:266920
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pe...	ORPHA:2886
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Metaphyseal widening, Pectus carinatum, High palate, Arachnodactyly,...	ORPHA:536467
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Pectus...	OMIM:614294
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Sandal gap, Pectus excavatum, Short toe, Prominent sternum, Clinodactyly of the...	OMIM:617877
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi...	ORPHA:2475
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Polyhydramnios, Facial edema, Epiphyseal stippling, Talipes equinovarus, Pulmon...	ORPHA:86822
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Tetrasomy 5P	Pericallosal lipoma, Recurrent respiratory infections, Overlapping toe, Short hallux, Pectus exca...	ORPHA:3309
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polydactyly, Foot pol...	OMIM:258860
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Edema,...	OMIM:236700
Neu-Laxova Syndrome 1	Micromelia, Polyhydramnios, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Finge...	OMIM:256520
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ...	OMIM:617088
Genitopatellar Syndrome	Hip contracture, Hypoplastic ilia, Cryptorchidism, Patellar aplasia, Knee flexion contracture, Ra...	ORPHA:85201
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Pectus excavatum, Lymphedema, Flattened ep...	OMIM:607131
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormal pleura morphology, Malabs...	ORPHA:537
Septo-Optic Dysplasia Spectrum	Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Cryptorchidism	ORPHA:3157
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m...	ORPHA:2319
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Duodenal stenosis, Pul...	ORPHA:2470
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Recurrent respiratory infections, Arachn...	ORPHA:280
Caudal Regression Syndrome	Decreased muscle mass, Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Abnormal pel...	ORPHA:3027
Cebalid Syndrome	High palate, Congenital diaphragmatic hernia	OMIM:618774
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Intestinal malrotation, Tracheoesophageal fistula, Aplasia/Hypoplasia of the radius, Anal atresia...	ORPHA:2973
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Micrognathia,...	ORPHA:3082
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme...	ORPHA:628
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Abnormal rib morphology...	ORPHA:2345
Chronic Granulomatous Disease	Pyloric stenosis, Recurrent respiratory infections, Tracheoesophageal fistula, Malabsorption	ORPHA:379
Meckel Syndrome, Type 6	Occipital encephalocele, Postaxial hand polydactyly, Bilobed right lung, Anencephaly, Cleft palat...	OMIM:612284
Iniencephaly	Encephalocele, Omphalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Congenital diaphragmati...	ORPHA:63259
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H...	OMIM:147750
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Aplasia/Hypopla...	ORPHA:2570
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Short thorax, Flexion contracture, Ost...	ORPHA:88630
Aymé-Gripp Syndrome	Inguinal hernia, Pericarditis, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finge...	ORPHA:1272
Diamond-Blackfan Anemia 10	Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Patent...	OMIM:613309
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Lymphangiectasia, Intestinal	Edema, Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs	OMIM:152800
Proximal 16P11.2 Microduplication Syndrome	Arachnodactyly, Congenital diaphragmatic hernia	ORPHA:370079
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Brachydactyly, Inguinal hernia, Overlapping toe, Single tran...	ORPHA:221120
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptor...	OMIM:618454
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Pericardial effusion, Cleft palate, Polydactyly, Talipes ...	OMIM:613885
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Anal stenosis, Ventricular septal defect, Bowing of the legs, Aplasia/Hypo...	OMIM:617063
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia	OMIM:618356
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent ductus ...	ORPHA:980
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Omphalocele, Micromelia, Postaxial hand polydactyly, Hypoplasia of the small i...	OMIM:200995
Spondylocostal Dysostosis 4, Autosomal Recessive	Missing ribs, Pectus excavatum, Myelomeningocele, Short thorax, Rib fusion, Bell-shaped thorax, S...	OMIM:613686
Gaucher Disease, Perinatal Lethal	Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Pulmonary hypoplasia, Dysphagia, Neonata...	OMIM:608013
Alg9-Cdg	Villous atrophy, Abnormal lung lobation, Hydrops fetalis, Right ventricular dilatation, Narrow gr...	ORPHA:79328
Charge Syndrome	Facial palsy, Polyhydramnios, Abnormal soft palate morphology, Cryptorchidism, Abnormal tibia mor...	ORPHA:138
Teebi Hypertelorism Syndrome 1	Omphalocele, Ventricular septal defect, Small hand, Broad palm, Hydrocele testis, Pulmonary hypop...	OMIM:145420
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Cleft palate, Gastro...	OMIM:616364
Focal Dermal Hypoplasia	Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa...	OMIM:305600
Bardet-Biedl Syndrome 19	Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri...	OMIM:615996
Seckel Syndrome 1	11 pairs of ribs, Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Single transverse ...	OMIM:210600
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crease, Rocker b...	OMIM:214100
Ritscher-Schinzel Syndrome 1	Syndactyly, Micrognathia, Missing ribs	OMIM:220210
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Polyhydramnios, Hypoplastic ilia, Abnormal sac...	ORPHA:1860
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Cryptorchidism, Patent ductu...	ORPHA:861
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi...	OMIM:268310
Williams Syndrome	Bicuspid aortic valve, Cardiomegaly, Periorbital edema, Rectal prolapse, Gastroesophageal reflux,...	ORPHA:904
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Rib fusion, Short ribs, Missing ribs, Thin ribs	OMIM:271520
Femoral-Facial Syndrome	Short femur, Micrognathia, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal fibula morpho...	ORPHA:1988
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Sandal gap, Polyhydramnios, Aplasia/Hypoplasia of the lungs, Ascites, Oligohydramnios	ORPHA:1046
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Maternal Uniparental Disomy Of Chromosome 2	Bilateral cryptorchidism, Preaxial hand polydactyly, Respiratory infections in early life, Contra...	ORPHA:96179
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal...	ORPHA:254534
Dyskeratosis Congenita	Recurrent respiratory infections, Esophageal stenosis, Malabsorption, Anorectal anomaly, Tracheoe...	ORPHA:1775
Nephronophthisis 2	Situs inversus totalis, Pulmonary hypoplasia, Oligohydramnios	OMIM:602088
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Meckel Syndrome, Type 1	Occipital encephalocele, Lobulated tongue, Syndactyly, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:249000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flaring of ...	OMIM:271640
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Pericardial lymphangiectasia, Lymphedema, Pulmonary lymphangiectasia, Camptodactyly, ...	OMIM:616006
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Diets-Jongmans Syndrome	Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Cryp...	OMIM:618846
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bilater...	OMIM:614083
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Pos...	OMIM:614815
Holoprosencephaly	Encephalocele, Omphalocele, Brachydactyly, Ventricular septal defect, Abnormal pulmonary valve mo...	ORPHA:2162
Cdags Syndrome	Short ribs, Short clavicles	OMIM:603116
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Micrognathia, Pectus excavatum, Postaxial hand polydactyly, Polydactyly, ...	OMIM:613610
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microretrognathia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Broad hallux, Overlapping ...	ORPHA:508498
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abnormal rib morphology, Cleft pal...	ORPHA:2167
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Pneumothorax, Talipes equinovarus, Pulmonary hypoplasia, Short tibia, ...	OMIM:620306
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Increased density of long bones, Single transverse palmar crease, Wide distal fem...	OMIM:269150
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Pectus excavatum, Abnormal diaphysis morphology, Na...	ORPHA:1515
Fetal Alcohol Syndrome	Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate	ORPHA:1915
Restrictive Dermopathy 1	Limb joint contracture, Rocker bottom foot, Polyhydramnios, Thin clavicles, Patent ductus arterio...	OMIM:275210
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Abnormal rib morphology, ...	ORPHA:3404
Bardet-Biedl Syndrome 16	Bronchiolitis, Recurrent respiratory infections, Polydactyly	OMIM:615993
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes...	OMIM:619708
Neu-Laxova Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Spina bifida, Mic...	ORPHA:2671
Osteogenesis Imperfecta	Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Femoral bo...	ORPHA:666
Seckel Syndrome 5	11 pairs of ribs, Short middle phalanx of finger, Clinodactyly of the 5th finger, Micrognathia	OMIM:613823
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Orofaciodigital Syndrome Viii	Syndactyly, Cleft palate, High palate, Polydactyly, Short tibia, Recurrent aspiration pneumonia	OMIM:300484
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Meckel Syndrome, Type 2	Encephalocele, Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly...	OMIM:603194
Perlman Syndrome	Distal ileal atresia, Congenital diaphragmatic hernia, Edema, Polyhydramnios, Hypoplasia of the a...	OMIM:267000
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Ventricular septal defect, Upper limb undergrowth, Lower limb hyperton...	OMIM:169400
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia, Talipes equinovarus, Oligohydramnios	OMIM:191830
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-shaped metacarpal, Partial...	OMIM:617926
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Cryptorchidism, Abnormal femur morphology, Cleft palate, Ap...	ORPHA:3429
Truncus Arteriosus	Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ...	ORPHA:3384
7Q11.23 Microduplication Syndrome	Atrial septal defect, Inguinal hernia, Ventricular septal defect, Single transverse palmar crease...	ORPHA:96121
Coffin-Siris Syndrome 1	Single transverse palmar crease, Congenital diaphragmatic hernia, Prominent interphalangeal joint...	OMIM:135900
Restrictive Dermopathy	Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contractures, Campto...	ORPHA:1662
Orofaciodigital Syndrome Type 4	Micromelia, High, narrow palate, Aplasia/Hypoplasia of the tibia, Bifid uvula, Genu varum, Finger...	ORPHA:2753
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patell...	OMIM:114290
Isolated Anencephaly	Omphalocele, Congenital diaphragmatic hernia	ORPHA:563609
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin...	ORPHA:2876
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
3C Syndrome	Finger syndactyly, Missing ribs, Micrognathia, Hand polydactyly, Abnormal hip bone morphology, Br...	ORPHA:7
Renal Agenesis	Ventricular septal defect, Pulmonary hypoplasia, Talipes equinovarus, Anal atresia, Oligohydramnios	ORPHA:411709
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm	OMIM:618238
Raine Syndrome	Bowing of the long bones, Micromelia, Protruding tongue, Pectus excavatum, Cleft palate, High pal...	OMIM:259775
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fing...	ORPHA:435638
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, L...	OMIM:300855
Mohr Syndrome	Syndactyly, Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Postaxial hand polydactyly...	OMIM:252100
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Adducted thumb, Micromelia, Bilateral single transverse palmar creases	ORPHA:50810
Hallermann-Streiff Syndrome	Micrognathia, Small hand, Short foot, Rib exostoses, Short ribs, Clinodactyly of the 5th finger	ORPHA:2108
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ...	OMIM:263630
Shprintzen-Goldberg Syndrome	Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Missing ribs, Pectus excavatum...	ORPHA:2462
White-Sutton Syndrome	Abnormality of the gastrointestinal tract, Ventral hernia, Inguinal hernia, Facial hypotonia, Con...	ORPHA:468678
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Broad hallux, 1-2 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger, Ventricular se...	OMIM:301044
Constricting Bands, Congenital	Encephalocele, Syndactyly, Omphalocele, Abnormal lung lobation, Cleft palate, Abnormal rib cage m...	OMIM:217100
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Tibial bowing, Anteriorly placed anus, High palate, Hepatoblastoma,...	ORPHA:798
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t...	OMIM:212780
Cardioacrofacial Dysplasia 1	Limb undergrowth, Long thorax, Postaxial polydactyly, Genu valgum	OMIM:619142
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Micromelia, Esophageal atresia, Abnormal pelvis bone ossification, Preaxial hand pol...	ORPHA:93271
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Congenital diaphragmatic hernia, High palate, Gastroesop...	ORPHA:199
Ritscher-Schinzel Syndrome 2	Syndactyly, Atrial septal defect, Broad hallux, Intestinal malrotation, Overlapping toe, Protrudi...	OMIM:300963
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Cleft palate, Aplasia/Hypoplasia of t...	ORPHA:2549
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo...	OMIM:211350
Tetraamelia-Multiple Malformations Syndrome	Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypoplasia involving the pelvis, Tet...	ORPHA:3301
Melnick-Needles Syndrome	Omphalocele, Recurrent respiratory infections, Bowing of the long bones, Coxa valga, Short thorax...	ORPHA:2484
C Syndrome	Omphalocele, Toe syndactyly, Bilateral single transverse palmar creases, Micromelia, Congenital d...	ORPHA:1308
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Congenital diaphragmatic hernia, Bifid uvula, Cleft palate	OMIM:606164
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hyp...	OMIM:311900
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Inguinal hernia, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyly, Small p...	ORPHA:397590
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Esophageal varix, Dehydration, Pulmonary hypoplasia, Neonatal death, Oligohydramnios	OMIM:263200
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Polydactyly, Hernia	OMIM:602501
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular septal defect, Paten...	OMIM:618142
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Congenital diaphrag...	OMIM:309801
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Lymphangiectasia, Pulmonary, Congenital	Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Edema, Polyhydramni...	OMIM:265300
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology, Bifid femur, Aplasia...	ORPHA:2769
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Pectus excavatum, Facial edema, Poly...	OMIM:616843
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Pe...	OMIM:614437
Cardiospondylocarpofacial Syndrome	Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hern...	OMIM:157800
Suleiman-El-Hattab Syndrome	Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, Single transverse p...	OMIM:618950
Joubert Syndrome 21	Bell-shaped thorax, Occipital encephalocele, Encephalocele, Short ribs	OMIM:615636
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Tracheal stenosis, Cryptorchidism, Patent ductus arterio...	OMIM:217980
Monosomy 9P	Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormality of the tarsal bones, Cr...	ORPHA:261112
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Occipital encephalocele, Postaxial hand polydactyly, Polydactyly	OMIM:607361
Adams-Oliver Syndrome 5	Syndactyly, Inguinal hernia, Right atrial enlargement, Esophageal varix, Right ventricular hypert...	OMIM:616028
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, Gastrointestinal dysmotility, 2-3 toe cutaneous syndacty...	OMIM:270400
Congenital Sialidosis Type 2	Inguinal hernia, Edema, Protruding tongue, Respiratory tract infection, Abnormal heart morphology...	ORPHA:93400
Tetrasomy 9P	Myositis, High palate, Clinodactyly of the 5th finger, Patent foramen ovale, Bifid uvula, Bilater...	ORPHA:3310
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Edema of the dorsum of hands, Lateral clavicle hook, Femoral bowing,...	OMIM:274000
Renal-Hepatic-Pancreatic Dysplasia 1	Intestinal malrotation, Situs inversus totalis, Patent ductus arteriosus, Pulmonary hypoplasia, N...	OMIM:208540
Nephronophthisis 15	Polydactyly	OMIM:614845
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
Fontaine Progeroid Syndrome	Bicuspid aortic valve, High, narrow palate, Hypoplasia of the abdominal wall musculature, Anterio...	OMIM:612289
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Esophageal varix, Foot oligodactyly, Truncus arteriosus, B...	OMIM:616589
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Retinitis Pigmentosa 89	Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly	OMIM:618955
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Diastasis recti, Upper limb asymmetry, Polydactyly, High palate, Clinodactyly of the 5th finger	ORPHA:231140
Campomelia, Cumming Type	Bowing of the long bones, Micromelia, Lymphedema, Abnormal thorax morphology, Abnormal rib morpho...	ORPHA:1318
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Cleft palate, Submucous cleft of soft and hard pal...	OMIM:301022
Spondyloepimetaphyseal Dysplasia, X-Linked	Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum...	OMIM:300106
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bronchomalacia, Ileal atresia, Patent ductus arteriosus, Pulmonary hypoplasia, Microcolon, Oligoh...	OMIM:619351
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, Tapered finge...	OMIM:619721
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Oligohydramnios	OMIM:267430
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Micromelia, Abnormal heart valve morphology, Situs inver...	ORPHA:289
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Upper limb...	OMIM:607323
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot p...	OMIM:264480
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Congeni...	OMIM:601803
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Rocker bottom foot, Micrognathia, Hip dislocation, Elbow flexion contracture, H...	OMIM:618947
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Orofaciodigital Syndrome Xiv	Microretrognathia, Occipital encephalocele, Broad hallux, Micrognathia, Postaxial hand polydactyl...	OMIM:615948
Genitopatellar Syndrome	Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricular septal defect, Hypoplasti...	OMIM:606170
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Rhizomelia, Abnormality of the hand, Tapered finger, Pectus excav...	ORPHA:319182
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aortopulmo...	ORPHA:99050
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Pectus carinatum, Narrow chest, Short pa...	ORPHA:175
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Kabuki Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Hip dislocation, Small hand, Cleft palate, Abnor...	ORPHA:2322
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar crease...	ORPHA:83617
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Witteveen-Kolk Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Polyhydramnios, High, narrow palate...	OMIM:613406
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Dextrocardia	Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Abnorma...	ORPHA:1666
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Brachydactyly, Short long bone, Short palm	OMIM:619184
Crane-Heise Syndrome	Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Micrognathia, Talipes...	ORPHA:1512
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Aplasia/Hypo...	OMIM:219000
Fraser Syndrome	Encephalocele, Finger syndactyly, Anal stenosis, Toe syndactyly, Omphalocele, Cryptorchidism, Mye...	ORPHA:2052
Ataxia-Telangiectasia-Like Disorder 2	Joint contracture, Congenital diaphragmatic hernia, Dysphagia	OMIM:615919
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hyp...	OMIM:273395
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Rhabdomyosarcoma,...	ORPHA:116
Pallister-Hall Syndrome	Abnormal lung lobation, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Synda...	OMIM:146510
Hydrolethalus Syndrome 1	Omphalocele, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Postaxial hand...	OMIM:236680
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia	OMIM:616910
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap...	OMIM:609638
Endocrine-Cerebroosteodysplasia	Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si...	OMIM:612651
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda...	OMIM:101200
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Missing ribs, Short toe, H...	ORPHA:2308
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Pulmonary hypoplasia	OMIM:231680
Joubert Syndrome 23	Polydactyly	OMIM:616490
Robinow Syndrome	Syndactyly, Brachydactyly, Missing ribs, Bifid distal phalanx of the thumb, Micrognathia, Rib fus...	ORPHA:97360
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Abnormal thorax morphology, Tracheal ca...	OMIM:302960
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Inguinal hernia, Single transverse palmar crease, Polyhydramnios, Cryptorchidism, Cl...	OMIM:247200
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Mckusick-Kaufman Syndrome	Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Ventricular septal defect, Cryptorch...	ORPHA:2473
Orofaciodigital Syndrome V	Recurrent respiratory infections, Aganglionic megacolon, Sandal gap, Hamartoma of tongue, Postaxi...	OMIM:174300
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Pectus excavatum, 2-3 toe syndactyly, Broad finger, Limb undergrowth...	ORPHA:488632
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Cryptorchidism, Oligohydramnios, Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:617641
Aicardi Syndrome	Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid ribs	ORPHA:50
Diamond-Blackfan Anemia 1	11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala...	OMIM:105650
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplas...	OMIM:276820
Aicardi Syndrome	Spina bifida, Missing ribs, Proximal placement of thumb, Rib fusion, Supernumerary ribs, Bifid ribs	OMIM:304050
Microphthalmia With Linear Skin Defects Syndrome	Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitra...	ORPHA:2556
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Gastrointestinal dysmotility, Abnormal tongue morphology, Abnormal heart morpholo...	ORPHA:531151
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Mitral valve ...	OMIM:104350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kn...	OMIM:603387
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax...	OMIM:210710
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Neonatal death, Congenital diaphragmatic hernia	OMIM:194080
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Microphthalmia, Syndromic 1	Syndactyly, Aganglionic megacolon, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Bicus...	OMIM:309800
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fourth metatarsal, Short fifth metatarsal, Single transverse palmar crease, Aplasia of the ...	OMIM:619841
Leopard Syndrome 1	Scapular winging, Limited elbow movement, Missing ribs, Pectus excavatum, Pectus carinatum, Cubit...	OMIM:151100
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty...	OMIM:614099
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Spontaneous pneumothorax, Recurrent pneumonia, E...	ORPHA:731
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Bilateral cryptorchidism, Central Y-shape...	ORPHA:2754
Jacobsen Syndrome	Micrognathia, Pectus excavatum, Missing ribs, Clinodactyly of the 5th finger, Brachydactyly	OMIM:147791
Dpagt1-Cdg	Lipodystrophy, Arachnodactyly, Flexion contracture, Anasarca, Pulmonary hypoplasia, Camptodactyly...	ORPHA:86309
Floating-Harbor Syndrome	11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Short middl...	OMIM:136140
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact...	OMIM:614976
Joubert Syndrome 27	Polydactyly	OMIM:617120
Congenital Total Pulmonary Venous Return Anomaly	Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia...	ORPHA:99125
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Microphthalmia, Syndromic 3	Vertebral hypoplasia, Rib fusion, Supernumerary ribs, Missing ribs	OMIM:206900
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Polyhydramnios, Bilateral cryptorchidism, High, narrow palate, F...	OMIM:180849
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
6Q Terminal Deletion Syndrome	Hallux valgus, Aplasia/Hypoplasia of the ribs, Clinodactyly, Micrognathia	ORPHA:75857
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Ventricular septal de...	ORPHA:464306
Tetraploidy	Aplasia/Hypoplasia of the lungs, Radial club hand, Cleft palate	ORPHA:3305
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Bicuspid pulmonary valve, Pectus carinatum, Abnormal sternum morphology, A...	OMIM:610168
Pallister-Hall Syndrome	Abnormal lung lobation, Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Mesoaxi...	ORPHA:672
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Tubulonodular pericallosal lipoma, Cryptorchidism, Preaxial polydactyl...	OMIM:603671
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Abnormal heart morphology, Polydactyly, High palate, Aspiration pneumonia	ORPHA:314655
Joubert Syndrome 39	Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p...	OMIM:619562
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Skeletal muscle atrophy, Short femur, Abnormal mitochondrial shape, Recurrent resp...	ORPHA:17
Cardiac Valvular Dysplasia 1	Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, V...	OMIM:212093
Adnp Syndrome	Inguinal hernia, Broad hallux, Single transverse palmar crease, Sandal gap, Oral-pharyngeal dysph...	ORPHA:404448
Bardet-Biedl Syndrome 1	Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, Postaxial hand pol...	OMIM:209900
Orofaciodigital Syndrome I	Syndactyly, Hamartoma of tongue, Myelomeningocele, Cleft palate, Tongue nodules, Abnormal heart m...	OMIM:311200
Monosomy 9Q22.3	Rhabdomyosarcoma, Palmar pits, Pectus excavatum, Abnormal rib morphology, Cardiac fibroma, Polyda...	ORPHA:77301
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Micrognathia, Tapered finger, Small hand, Hip dysplasia	OMIM:620005
Kinsship Syndrome	Single transverse palmar crease, Coxa valga, Micrognathia, Hip dislocation, Fibular hypoplasia, C...	OMIM:619297
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Avascular necrosis of the capital femoral epip...	ORPHA:2044
Doors Syndrome	11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe morphology, Ab...	ORPHA:79500
Degcags Syndrome	Polyhydramnios, Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Atrial septal de...	OMIM:619488
Choanal Atresia	Tracheomalacia, Recurrent respiratory infections, Polydactyly	ORPHA:137914
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Partial dup...	OMIM:164210
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Gastroesophageal reflux, Short 4th toe, Atrial septal defect, Prominent fing...	OMIM:615873
Tetraamelia Syndrome 2	Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Glossoptosis, Bilateral lun...	OMIM:618021
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Inguinal hernia, Ventricular septal defect, Cleft soft palate, Abnormal pulmonary ...	ORPHA:268261
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Myelomeningocele, Talipes eq...	OMIM:258040
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Ventricular septal defect, Postaxial polydactyly	OMIM:219730
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Rib fusion, Short foot, Hip dysplasia, Foot polydactyl...	ORPHA:1606
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu...	OMIM:619534
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Polyhydramnios, Gastroesophageal reflux, High palate, Atrial septal defect...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Polyhydramnios, Gastroesophageal reflux, High palate, Atrial septal defect...	ORPHA:353277
Legius Syndrome	Non-small cell lung carcinoma, Desmoid tumors, Mitral valve prolapse, Diaphyseal dysplasia, Multi...	ORPHA:137605
Faciocardiomelic Syndrome	Micrognathia, Slender long bone, Polydactyly, Narrow chest, Hypoplastic pelvis	OMIM:612731
Mend Syndrome	Microretrognathia, Overlapping toe, Broad hallux, Micrognathia, Long fingers, 2-3 toe syndactyly,...	OMIM:300960
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Rib fusion, Short foot, Hip dyspl...	OMIM:607872
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ...	OMIM:619471
Okamoto Syndrome	Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestin...	ORPHA:2729
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Ventricular septal defect, Furrowed tongue, Macroglossia, Ca...	ORPHA:769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Occipital encephalocele, Anencephaly	OMIM:615287
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Neurocardiofaciodigital Syndrome	Syndactyly, Patent ductus arteriosus, Double inlet left ventricle, High palate, Polydactyly, Atri...	OMIM:619869
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Absence of Stensen duct, Broad hallux, Absent radius, Short thumb, Partia...	OMIM:149730
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Abnormal digit morphology, Decreased testicular size, Median cleft lip and palate	ORPHA:95494

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 Wdr35

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 Wdr35.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.	American journal of human genetics (April 2011)	Wdr35^{tm2a(EUCOMM)Hmgu}	PMC3071922

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Wdr35^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Wdr35^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Wdr35^{em1(IMPC)Hmgu}	Exon Deletion	Mice
Wdr35^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Wdr35^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Wdr35^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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