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Gene: Wdr35 MGI:1921932

Registered for phenotyping at IMPC

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

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 (740 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	Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Micromelia, Thoracic dysplasi...	OMIM:614091
Cranioectodermal Dysplasia 2	Rhizomelia, Narrow chest, Clinodactyly, Micrognathia, Horizontal ribs, Polydactyly, Short ribs, B...	OMIM:613610
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Narrow chest, Finger syndactyly, Abnormal diaphysis m...	ORPHA:1515
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Narrow chest, Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Short tho...	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	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Acropectoral Syndrome	Abnormal thorax morphology, Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Thoracic Dysostosis, Isolated	Pectus excavatum, Bell-shaped thorax, Short ribs	OMIM:187750
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Syndactyly, Type Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	OMIM:186100
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ...	ORPHA:2141
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Congenital Absence Of Upper Arm And Forearm With Hand Present	Atypical scarring of skin, Abnormal heart morphology, Abnormal hip bone morphology, Abnormal thor...	ORPHA:294975
Acropectoral Syndrome	Pectus carinatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb...	OMIM:605967
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ...	OMIM:173800
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped...	ORPHA:1803
Kyphomelic Dysplasia	Narrow chest, Micromelia, Micrognathia, Undulate ribs, Bowing of the long bones, Missing ribs, La...	ORPHA:1801
Thoracopelvic Dysostosis	Short ribs	OMIM:187770
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Micrognathia, Sho...	OMIM:614524
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Aplasia of the left hemi...	ORPHA:2437
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum	OMIM:618155
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal lung lobation, A...	ORPHA:1120
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hypoplastic ilia, Pectus carinatum, Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pub...	OMIM:613330
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	ORPHA:380
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl...	ORPHA:958
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ...	OMIM:187601
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Thoracic hypoplasia, Upper limb undergrowth, Nonimmune hydrops fetalis, Polyhydramnios, Hydrops f...	OMIM:613124
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin...	ORPHA:1891
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Abnormal sternum morphology, Abnormal heart morphology, Partial diaphragmati...	ORPHA:2847
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia, Syndactyly, Omphalocele,...	OMIM:601163
Schisis Association	Micromelia, Encephalocele, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Spina bifi...	ORPHA:63862
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd...	ORPHA:887
Acropectorovertebral Dysplasia	Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi...	OMIM:102510
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Short humerus, Neonatal death, Hand polydactyly, Tracheoesophageal...	OMIM:314390
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Intestinal malrotation, Congenital diaphragmatic hernia, Neonatal death,...	OMIM:615524
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Umbilical hernia, Advanced tarsal ossifi...	OMIM:269250
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle hook, Horizonta...	OMIM:617895
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
17Q12 Microduplication Syndrome	Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Atrial septal defect, Polyhydramnio...	ORPHA:261272
Wahab Syndrome	Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal...	OMIM:615170
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly...	ORPHA:3268
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals	OMIM:618724
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Irregular chondrocostal junctions...	OMIM:250420
Chondrodysplasia, Blomstrand Type	Narrow chest, Micromelia, Flared metaphysis, Micrognathia, Short ribs, Advanced ossification of c...	OMIM:215045
Jawad Syndrome	Thoracic scoliosis, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalang...	OMIM:251255
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation...	ORPHA:2631
Lethal Congenital Contracture Syndrome 11	Elbow flexion contracture, Polyhydramnios, Distal arthrogryposis, Camptodactyly, Flexion contract...	OMIM:617194
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ...	OMIM:615503
Cutis Laxa-Marfanoid Syndrome	Abnormal heart valve morphology, Emphysema, Congenital diaphragmatic hernia, Arachnodactyly, Flex...	ORPHA:171719
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Fetal Encasement Syndrome	Upper limb undergrowth, Tetralogy of Fallot, Congenital diaphragmatic hernia, Lower limb undergro...	OMIM:613630
Diaphanospondylodysostosis	Myelomeningocele, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax	ORPHA:66637
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Abnormal heart morphology, Congenital diaphragmatic hernia, Arachnodactyly, Hip disloc...	OMIM:614100
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Narrow chest, Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, ...	OMIM:618961
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Occipital encephalocele, Micrognathia, Sh...	OMIM:241800
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Anorectal anomaly, Oligohydramni...	ORPHA:1834
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Micrognathia, Ulnar bowing,...	OMIM:617866
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Short ribs, Brachydacty...	OMIM:615630
Achondrogenesis, Type Ib	Hypoplastic ilia, Narrow chest, Micromelia, Umbilical hernia, Short ribs	OMIM:600972
Seckel Syndrome 4	Steep acetabular roof, 11 pairs of ribs	OMIM:613676
8p23.1 deletion syndrome	Abnormal heart morphology, Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricula...	DECIPHER:39
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia, Palmoplantar blistering, Neonatal death	OMIM:226735
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Bell-shaped thorax, Micrognathia,...	ORPHA:56304
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog...	ORPHA:1842
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Narrow chest, Radial bowing, Severe...	OMIM:151210
Laryngotracheoesophageal Cleft Type 4	Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia, Abnormal cardiac septum morphol...	ORPHA:93941
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ankle flexion contracture, Arthrogryposis multiplex congenita, Internally rotated shoulders, Elbo...	OMIM:617468
Congenital Diaphragmatic Hernia	Aplasia/Hypoplasia of the diaphragm, Intestinal malrotation, Congenital diaphragmatic hernia, Pro...	ORPHA:2140
Severe Congenital Nemaline Myopathy	Thin ribs, Nemaline bodies, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Abnormal...	ORPHA:171430
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Knee flexion contracture, Absent uvula...	OMIM:616531
Spondylometaphyseal Dysplasia, Type A4	Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic h...	OMIM:609052
Fibrochondrogenesis 1	Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Bro...	OMIM:228520
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Finger syndactyly, Sandal gap, Camptodactyly of finger, Congenital ...	ORPHA:1520
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Narrow chest, Micromelia, Broad long bones, Micrognathia, Encephal...	OMIM:224400
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow chest, Micromel...	ORPHA:85166
Achondrogenesis Type 2	Hypoplastic ilia, Narrow chest, Micromelia, Delayed pubic bone ossification, Short ribs, Delayed ...	ORPHA:93296
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t...	ORPHA:488232
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Arthrogryposis multiplex...	OMIM:616867
Achondrogenesis, Type Ia	Broad clavicles, Hypoplastic scapulae, Narrow chest, Abnormal femoral metaphysis morphology, Seve...	OMIM:200600
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Microgastria-Limb Reduction Defect Syndrome	Elbow dislocation, Esophagitis, Perineal fistula, Abnormal metacarpal morphology, Atrial septal d...	ORPHA:2538
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Boomerang Dysplasia	Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology...	ORPHA:1263
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Cooper-Jabs Syndrome	Anteriorly placed anus, Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, ...	ORPHA:1488
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap...	OMIM:602557
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s...	OMIM:613091
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Micromelia, Thoracic dysplasi...	OMIM:614091
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Abnormal heart morphology, Oligohydramnios, Congenital diaphragmatic hern...	OMIM:263210
Delpire-Mcneill Syndrome	Tracheoesophageal fistula, Dysphagia, Hip dislocation, Ventricular septal defect	OMIM:619083
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly	OMIM:185900
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Flared met...	OMIM:187600
Lethal Congenital Contracture Syndrome 10	Narrow palate, Narrow chest, Increased variability in muscle fiber diameter, Broad ribs, Overlapp...	OMIM:617022
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra...	OMIM:615633
Renal Tubular Dysgenesis	Tetralogy of Fallot, Oligohydramnios, Bilateral single transverse palmar creases, Polyhydramnios,...	ORPHA:3033
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Thoracic h...	OMIM:256050
Congenital Myopathy 1B, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:255320
Acces Syndrome	Ectrodactyly, Tracheoesophageal fistula, Hip dysplasia, Clinodactyly of the 5th finger, Recurrent...	OMIM:619959
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Micrognathia, Talipes equinovarus, ...	ORPHA:2839
Congenital Contractural Arachnodactyly	Congenital contracture, Arthrogryposis multiplex congenita, Camptodactyly of finger, Intestinal m...	ORPHA:115
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Skeletal muscle atrophy, Abnormal muscle fiber morphology, Abnormal hip bone mo...	ORPHA:3068
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f...	ORPHA:2021
Lethal Congenital Contracture Syndrome 1	Hypoplasia of the musculature, Skeletal muscle atrophy, Abnormal thorax morphology, Neonatal deat...	OMIM:253310
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Infantile Myofibromatosis	Chondrocalcinosis, Abnormal thorax morphology, Intestinal obstruction, Abnormal intestine morphol...	ORPHA:2591
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Abnormal tibia morphology, Tetralo...	ORPHA:1335
Ellis-Van Creveld Syndrome	Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i...	OMIM:225500
Fliedner-Zweier Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hallux valgus, Anal atresia, Tracheoesophageal ...	OMIM:620511
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Umbilical hernia, Congenital...	ORPHA:2311
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Oligohydramnios, Single transverse palmar crease, Neonatal death, 2-3 toe syndac...	OMIM:236500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Pulmonary hypoplasia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Ascites...	OMIM:616897
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Ventricular septa...	ORPHA:1692
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor...	OMIM:613320
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Tracheal calcification, Large placenta, Barrel-shaped ...	OMIM:215140
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Frontal encephalocele	ORPHA:261102
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Horizontal i...	OMIM:250220
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Neonatal death, Card...	OMIM:614096
Three M Syndrome 1	Short 5th finger, Slender long bone, Hypoplastic pelvis, Short ribs, Spina bifida occulta, Scapul...	OMIM:273750
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Trisomy 1Q	Toe syndactyly, Abnormal rib morphology, Camptodactyly of finger, Preaxial hand polydactyly, Incr...	ORPHA:261344
Serkal Syndrome	Malrotation of small bowel, Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal ...	ORPHA:139466
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Ventricular septal defect, Neonatal death, Short foot, Patent ductus arteri...	OMIM:269860
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Occipital...	OMIM:616546
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Gastroesophageal reflux, Tetralogy of Fallot, Intestinal malrotation, Ove...	OMIM:618316
Nphp3-Related Meckel-Like Syndrome	Polyhydramnios, Oligohydramnios, Intestinal malrotation, Pulmonary hypoplasia	ORPHA:3032
Odontochondrodysplasia 1	Mesomelia, Pectus carinatum, Metaphyseal cupping, Narrow chest, Dentinogenesis imperfecta, Microm...	OMIM:184260
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Prieto Syndrome	Clinodactyly, Radial deviation of finger, 11 pairs of ribs, Talipes equinovarus, Coxa valga	OMIM:309610
Congenital Tracheal Stenosis	Hypoplastic left heart, Fetal ascites, Meckel diverticulum, Duodenal atresia, Abnormal lung lobat...	ORPHA:141127
Thanatophoric Dysplasia	Abnormal ilium morphology, Narrow chest, Micromelia, Short thorax, Increased nuchal translucency,...	ORPHA:2655
Xp22.13P22.2 Duplication Syndrome	Small hand, Recurrent upper respiratory tract infections, Umbilical hernia, Congenital diaphragma...	ORPHA:284180
Achondrogenesis, Type Ii	Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Hor...	OMIM:200610
Congenital Tracheomalacia	Ventricular septal defect, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Gast...	ORPHA:95430
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Short finger, Hypoplastic heart, Amyoplasia, Polyhydramnios, Flexion contracture, Clef...	OMIM:312150
Phosphoribosylaminoimidazole Carboxylase Deficiency	Neonatal death, Missing ribs, Talipes equinovarus, Tracheoesophageal fistula, Esophageal atresia,...	OMIM:619859
Acrocallosal Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Inguinal hernia, Triphalangeal thu...	ORPHA:36
Spinal Muscular Atrophy With Impaired Intellectual Development	Syndactyly	OMIM:271109
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia, Neonatal death	OMIM:306950
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Abnormal heart morphology, Myelomeningocele, Abnormal thumb morphology,...	ORPHA:94065
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Abnormal hip bone morphology, Congenital diaphragmatic hernia, Abnormality o...	ORPHA:1166
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Pulmonary hypoplasia, Narrow chest, Micromelia, Broad long bones, Clubbing of f...	ORPHA:1865
Dysosteosclerosis	Short diaphyses, Narrow chest, Broad femoral neck, Absent paranasal sinuses, Flared metaphysis, B...	OMIM:224300
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal lung lobation, Abnormality of the wrist, Abnormal femur morphology, Conge...	ORPHA:2063
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis...	OMIM:208500
Focal Dermal Hypoplasia	Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia, Ventricular septal defect, Ab...	ORPHA:2092
Renal Agenesis, Bilateral	Oligohydramnios, Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft pal...	ORPHA:1848
Tonne-Kalscheuer Syndrome	Broad thumb, Velopharyngeal insufficiency, Abnormal heart morphology, Congenital diaphragmatic he...	OMIM:300978
Esophageal Atresia	Clinodactyly, Esophagitis, Abnormal gastrointestinal tract morphology, Ventricular septal defect,...	ORPHA:1199
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Fetal Akinesia Deformation Sequence 4	Camptodactyly, 11 pairs of ribs, Rocker bottom foot, Micrognathia	OMIM:618393
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h...	ORPHA:1836
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Kagami-Ogata Syndrome	Thin ribs, Bell-shaped thorax, Diastasis recti, Inguinal hernia, Ventricular septal defect, Pulmo...	OMIM:608149
Achondrogenesis Type 1B	Narrow chest, Micromelia, Abnormal rib morphology, Umbilical hernia, Polyhydramnios, Talipes equi...	ORPHA:93298
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Mi...	OMIM:600920
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Ventricular septal defect, Neonatal death, Bicuspid aortic ...	OMIM:265380
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Short finger, Hypoplastic heart, Amyoplasia, Polyhydramnios, Flexion contracture, Clef...	OMIM:253290
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Diaphragmatic eventration, Generalized amyotrophy...	OMIM:616866
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Cervical ribs, Genu valgum, Sin...	OMIM:617927
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly	OMIM:600384
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary hypoplasia	OMIM:619003
Multicentric Carpotarsal Osteolysis Syndrome	Wrist swelling, Carpal osteolysis, Metacarpal osteolysis, Bilateral elbow dislocations, Ulnar dev...	OMIM:166300
Infantile-Onset X-Linked Spinal Muscular Atrophy	Interphalangeal joint contracture of finger, Elbow flexion contracture, Hip contracture, Short ri...	ORPHA:1145
Methimazole Embryofetopathy	Polyhydramnios, Tracheoesophageal fistula, Esophageal atresia, Ventricular septal defect	ORPHA:1923
Achondrogenesis Type 1A	Narrow chest, Micromelia, Umbilical hernia, Polyhydramnios, Multiple rib fractures, Aplasia/Hypop...	ORPHA:93299
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Slender long bone, Abnormal hip bone morphology, Abnormal rib morphology...	ORPHA:1486
Phocomelia, Schinzel Type	Finger aplasia, High, narrow palate, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the ...	ORPHA:2879
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, Aplasia/Hypoplas...	ORPHA:2911
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:99811
Thoraco-Abdominal Enteric Duplication	Missing ribs, Meningocele, Camptodactyly of finger	ORPHA:1759
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand poly...	ORPHA:2519
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Tetralogy of Fallot, Congenital diaphragmatic hernia, Atrial...	OMIM:300887
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Umbilical hernia, Aplasia of...	OMIM:308050
Tracheal Agenesis	Polyhydramnios, Tracheal atresia, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morpho...	ORPHA:3346
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening...	OMIM:300863
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Micrognathia, Broad pha...	OMIM:271665
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Dysphag...	ORPHA:142
Rhombencephalosynapsis	Finger syndactyly, Polydactyly, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atre...	ORPHA:59315
Fanconi Anemia, Complementation Group B	Bilateral radial aplasia, Absent thumb, Duodenal atresia, Abnormal lung lobation, Ventricular sep...	OMIM:300514
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect, Submucous cleft hard palate, Spina bifida occulta, Sprengel a...	OMIM:619227
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Vacterl With Hydrocephalus	Femoral hernia, Inguinal hernia, Tracheoesophageal fistula, Esophageal atresia, Hypoplasia of the...	ORPHA:3412
Alg3-Cdg	Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormality of the gastrointestinal tract, Abnormal...	ORPHA:79321
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Occipital encephalocele, Thoracic hypoplasia, Small cervical vertebral bod...	ORPHA:397715
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial septal defect, Polysyndactyly...	OMIM:263520
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Tetralogy of Fallot, ...	ORPHA:210122
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Hereditary Mucoepithelial Dysplasia	Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Recurrent respiratory infections, ...	ORPHA:1839
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal...	ORPHA:1354
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Short tibia, Bell-shaped thorax, Encephalocele, Anal atresia, Flat acetabular roof, Patent ductus...	OMIM:616300
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Intestinal malrotation, Tibial bowing, Lower limb undergrowth, Bowing of the long ...	ORPHA:3035
Sirenomelia	Aplasia/Hypoplasia of the radius, Sirenomelia, Tracheoesophageal fistula, Spina bifida, Anal atresia	ORPHA:3169
Multiple Pterygium Syndrome, Escobar Variant	Patellar aplasia, Congenital diaphragmatic hernia, Arachnodactyly, Talipes equinovarus, Long clav...	OMIM:265000
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon...	ORPHA:174
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenita...	ORPHA:63260
Hereditary Continuous Muscle Fiber Activity	Type 1 muscle fiber predominance, Congenital diaphragmatic hernia	ORPHA:972
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Femoral bowing, Limited elbow ...	OMIM:100800
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Congenital diaphragmatic hernia, Ventricular septal defect, Tracheoesophageal fis...	ORPHA:268249
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypoplasia, Abnorma...	ORPHA:2257
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Spondylometaphyseal Dysplasia, A4 Type	Flared, irregular rib ends, Micromelia, Short palm, Coxa vara	ORPHA:168555
Donnai-Barrow Syndrome	Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular septal def...	ORPHA:2143
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle ...	ORPHA:1112
Atelosteogenesis Type I	Laryngotracheal stenosis, Rhizomelia, Pulmonary hypoplasia, Narrow chest, Thoracic hypoplasia, Ta...	ORPHA:1190
Acrorenal-Mandibular Syndrome	Thin ribs, Narrow palate, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Rudimentary fibula,...	OMIM:200980
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Broad thumb, Enlarged thorax, Tetralogy of Fallot, Hypertrophic cardiomyo...	ORPHA:251071
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, 11 pairs of ribs, Micro...	OMIM:201170
Emanuel Syndrome	Aortic valve stenosis, Congenital hip dislocation, Gastroesophageal reflux, Intestinal malrotatio...	OMIM:609029
Coffin-Siris Syndrome 3	Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Macroglossia, High palate, Short di...	OMIM:614608
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Fibular hypoplasia, Short ribs,...	ORPHA:3144
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Achondrogenesis	Narrow chest, Micromelia, Umbilical hernia, Inguinal hernia, Aplasia/Hypoplasia of the lungs, Sho...	ORPHA:932
Vater/Vacterl Association	Occipital encephalocele, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Tetralogy of...	OMIM:192350
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Finger syndactyly, Tracheomalacia, Umbilical hernia, Bilateral single...	ORPHA:1001
Limb Body Wall Complex	Cutaneous finger syndactyly, Aplasia/hypoplasia involving bones of the upper limbs, Encephalocele...	ORPHA:2369
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Encephalocele,...	ORPHA:90652
Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal cupping, Micrognathia, Hip contracture, Short ribs, Bowing of the long bones, Metaphy...	OMIM:156400
Nail-Patella Syndrome	Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Biceps aplasia, ...	OMIM:161200
Fryns Syndrome	Short distal phalanx of finger, Narrow chest, Gastroesophageal reflux, Tetralogy of Fallot, Intes...	ORPHA:2059
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Missing ribs, Abnormal rib morphology, Spina bifida occulta, Posterior rib fusion	ORPHA:1797
Meier-Gorlin Syndrome 1	Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact...	OMIM:224690
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Paten...	ORPHA:77298
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Pulmonary hypoplasia	OMIM:615228
Spondylocostal Dysostosis 5	Missing ribs, Pectus carinatum, Supernumerary ribs, Posterior rib fusion	OMIM:122600
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Short ribs, Carpal bone hypoplasia...	OMIM:252600
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arteries, Ectopia cor...	OMIM:313850
Jansen-De Vries Syndrome	Small hand, Gastroesophageal reflux, Ventricular septal defect, Bicuspid aortic valve, Brachydact...	OMIM:617450
Emanuel Syndrome	Aortic valve stenosis, Congenital hip dislocation, Bifid uvula, Gastroesophageal reflux, Oligohyd...	ORPHA:96170
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Congenital diaphragmatic hernia, Mitral valve prolapse, Talipes...	OMIM:245600
Diaphanospondylodysostosis	Thoracic hypoplasia, Tracheomalacia, Oligohydramnios, Increased nuchal translucency, Bell-shaped ...	OMIM:608022
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Bent Bone Dysplasia Syndrome 2	Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fem...	OMIM:620076
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula...	ORPHA:84
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Atrial septal defect, Ana...	OMIM:175700
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Proximal 16P11.2 Microdeletion Syndrome	Gastroesophageal reflux, Abnormal heart morphology, Congenital diaphragmatic hernia, Abnormal aor...	ORPHA:261197
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper li...	ORPHA:93351
Cutis Laxa, Autosomal Recessive, Type Ic	Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Gastroesophageal ref...	OMIM:613177
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Mosaic Trisomy 16	Short forearm, Pulmonary hypoplasia, Meckel diverticulum, Short thumb, Clinodactyly, Anteriorly p...	ORPHA:1708
Opitz Gbbb Syndrome	Tracheomalacia, Umbilical hernia, Abnormal heart morphology, Ankyloglossia, Congenital diaphragma...	ORPHA:2745
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Bilateral lung agenesis, Oligohydramnios, Congenital di...	OMIM:611812
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Hypoplasia of the musculature, Limb muscle weakness, Hip contracture, High palate, Tap...	OMIM:620369
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Ventricular septal defect, Hypoplasia of the diaphragm, Hernia...	ORPHA:185
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial sep...	OMIM:618280
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Marden-Walker Syndrome	High, narrow palate, Pyloric stenosis, Joint contracture of the hand, Congenital contracture, Abn...	OMIM:248700
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Femoral bowing, Oligo...	OMIM:615415
Chromosome 13Q33-Q34 Deletion Syndrome	Pyloric stenosis, Pulmonary hypoplasia, Narrow chest, Short thumb, Anteriorly placed anus, Overla...	OMIM:619148
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Abnormal sternum morphology, Polydactyly, Down-sl...	OMIM:109400
Microcephaly-Micromelia Syndrome	Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Oligohydramnios, Humeroradial ...	OMIM:251230
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Congenital diaphragmatic hernia, Ventricular septal defect, Talipes equinovarus, Pect...	OMIM:612530
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Oligohydramnios, Flexion contracture, Pulmonary hypoplasia	OMIM:616733
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Diaphragmatic eventration, Agenesis of pulmonary vessels, Tetralogy of F...	OMIM:601186
Holt-Oram Syndrome	Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Abnormal metaca...	ORPHA:392
Lethal Congenital Contracture Syndrome 9	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint...	OMIM:616503
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Tracheoesophageal fistula, Esophageal atresia	OMIM:189960
Thakker-Donnai Syndrome	Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Tracheoesophagea...	ORPHA:1780
Blomstrand Lethal Chondrodysplasia	Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morphology, Broad clavicle...	ORPHA:50945
Hyperparathyroidism, Transient Neonatal	Thin ribs, Fractured rib, Narrow chest, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Undu...	OMIM:618188
Metatropic Dysplasia	Narrow chest, Coarse metaphyseal trabecularization, Micromelia, Camptodactyly of finger, Halberd-...	ORPHA:2635
Feingold Syndrome 1	Short thumb, Short toe, Duodenal atresia, Ventricular septal defect, 2-3 toe syndactyly, Jejunal ...	OMIM:164280
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu...	ORPHA:65759
Trisomy 18	Narrow palate, Deviation of finger, Abnormal rib morphology, Camptodactyly of finger, Abnormal hi...	ORPHA:3380
Hypophosphatasia, Infantile	Metaphyseal cupping, Rachitic rosary, Micromelia, Short ribs, Short lower limbs, Bowing of the legs	OMIM:241500
Prune Belly Syndrome	Congenital hip dislocation, Volvulus, Tetralogy of Fallot, Intestinal malrotation, Oligohydramnio...	ORPHA:2970
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly	OMIM:615984
Cutis Laxa, Autosomal Recessive, Type Ia	Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Oligohydramnios, Congenital di...	OMIM:219100
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Narrow chest, Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Spondylospinal Thoracic Dysostosis	Arthrogryposis multiplex congenita, Short thorax, Pulmonary hypoplasia	OMIM:601809
Townes-Brocks Syndrome 1	Broad thumb, Pseudoepiphyses of second metacarpal, Ventricular septal defect, Atrial septal defec...	OMIM:107480
Congenital Heart Defects And Skeletal Malformations Syndrome	Sandal gap, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular septal defect, A...	OMIM:617602
Zaki Syndrome	Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Hypoplasia of the phalanges of the ...	OMIM:619648
Congenital Myopathy 17	Hand clenching, Pulmonary hypoplasia, Narrow chest, Diaphragmatic eventration, Clinodactyly, Over...	OMIM:618975
Larsen-Like Syndrome, Lethal Type	Neonatal death, Tracheomalacia, Pulmonary hypoplasia	OMIM:245650
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Micrognathia, Encephalocel...	OMIM:108720
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Congenital diaphra...	ORPHA:1647
Cree Impaired Intellectual Development Syndrome	Cutaneous finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the ribs, Pectus excavatum, Rock...	OMIM:606851
Agnathia-Otocephaly Complex	Microglossia, Secundum atrial septal defect, Tracheomalacia, Aglossia, Situs inversus totalis, Po...	OMIM:202650
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Short tibia, Lateral clavicle hook, Preaxial polydactyly, Tetralogy of Fallot, Hama...	OMIM:617925
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Neonatal death, Tracheal atresia, Abnormal cardiac septum morphology, Pa...	OMIM:601612
Spondylocostal Dysostosis 3, Autosomal Recessive	Rib fusion, Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal inter...	OMIM:609813
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ...	OMIM:609616
Noonan Syndrome 12	Pectus excavatum, 11 pairs of ribs, Proximal placement of thumb	OMIM:618624
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Finger syndactyly, Abnormal sternum morphology, Camptodactyly of finger,...	ORPHA:2990
Meckel Syndrome 14	Pulmonary hypoplasia, Postaxial foot polydactyly, Occipital encephalocele, Oligohydramnios, Incre...	OMIM:619879
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Occipital encephalocele	OMIM:213010
Fetal Akinesia Deformation Sequence	Generalized amyotrophy, Camptodactyly of finger, Multiple joint contractures, Intestinal hypoplas...	ORPHA:994
Meacham Syndrome	Hypoplastic left heart, Diaphragmatic eventration, Aplasia of the right hemidiaphragm, Tetralogy ...	OMIM:608978
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Congenital diaphragmatic hernia, Ventricular septal defect, Atr...	OMIM:600001
Pyknoachondrogenesis	Short iliac bones, Micromelia, Horizontal ribs, Short ribs, Aplastic pubic bone, Short long bone,...	ORPHA:3003
Thanatophoric Dysplasia Type 2	Narrow chest, Micromelia, Short thorax, Increased nuchal translucency, Encephalocele, Brachydacty...	ORPHA:93274
Arterial Tortuosity Syndrome	Aortic valve stenosis, Pectus carinatum, Ventricular hypertrophy, Bifid uvula, Umbilical hernia, ...	OMIM:208050
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula, Pectus ...	OMIM:619699
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Micromelia, Thoracic hypoplasia, Neonatal death, Bowing of the long bone...	OMIM:224410
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Congenital dia...	OMIM:618022
Donnai-Barrow Syndrome	Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular septal def...	OMIM:222448
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Abnormal rib morphology, Oligohydramnios, Brachydactyly, Split han...	ORPHA:2145
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs, Polyhydramnios,...	ORPHA:2204
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormal clavicle morphology, Situs inversus...	ORPHA:991
Fryns Syndrome	Thin ribs, Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Anal a...	OMIM:229850
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, 11 pairs ...	OMIM:620073
Meier-Gorlin Syndrome 3	Narrow chest, Microretrognathia, Slender long bone, Patellar hypoplasia, Short thorax, Micrognath...	OMIM:613803
Fetal Akinesia Deformation Sequence 1	Thin ribs, Decreased muscle mass, Hip contracture, Talipes equinovarus, Elbow ankylosis, High pal...	OMIM:208150
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Congenital diaphragm...	OMIM:154400
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Short humerus, Short ribs, Talipes equinovarus, Hypoplasia o...	OMIM:607143
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus, Pulmonary hypoplasia	OMIM:618174
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Long palm, Arachnodactyly, Missing ribs, Abnormal rib morphology, Clinodactyly of the 5th finger	ORPHA:2759
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary artery hypoplasia, Diaphragmatic eventration, Finger syndactyly, 11 pairs of ribs, Vent...	OMIM:620025
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Congenital diaphragmatic hernia, Ventricular septa...	ORPHA:818
Craniofrontonasal Syndrome	Abnormal rib cage morphology, Toe syndactyly, 3-4 finger syndactyly, Broad hallux, Umbilical hern...	OMIM:304110
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Pectus carinatum, Bilateral single transverse palmar creases, Arachnodactyly, Aplasia/Hypoplasia ...	ORPHA:1548
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Intellectual Disability-Strabismus Syndrome	Joint contracture of the hand, Gastroesophageal reflux, Congenital diaphragmatic hernia, Recurren...	ORPHA:363528
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Glossitis, Talipes equinovarus, Tracheoesophageal fistula, Atrial septal defect, Dextrocardia, Hi...	OMIM:277380
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Conot...	ORPHA:3097
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Stuve-Wiedemann Syndrome 1	Thin ribs, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body...	OMIM:601559
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Van Esch-O'Driscoll Syndrome	Bifid uvula, Ventricular septal defect, Spina bifida occulta, Pulmonary artery stenosis, Tracheoe...	OMIM:301030
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
13Q12.3 Microdeletion Syndrome	Recurrent respiratory infections, Upper eyelid edema, Congenital diaphragmatic hernia, Hip dyspla...	ORPHA:412035
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Sandal gap, Cone-shaped epiph...	OMIM:617102
Seckel Syndrome 9	Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Talipes ...	OMIM:616777
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Submucous cleft hard palate, Talipes equinovarus, Cleft palate, ...	ORPHA:250999
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy...	ORPHA:1319
Braddock Syndrome	Missing ribs, Pectus excavatum, Micrognathia, Preaxial hand polydactyly	ORPHA:52047
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Umbilical hernia, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Hip contracture, Tal...	OMIM:616266
Autosomal Recessive Amelia	Acromelia of the lower limbs, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology...	ORPHA:1027
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup...	OMIM:135750
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology	ORPHA:1506
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Fanconi Anemia, Complementation Group D2	Absent thumb, Short thumb, Preaxial hand polydactyly, Abnormal heart morphology, Partial duplicat...	OMIM:227646
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ventricular septal defect, High palate, Dislocated radial head, ...	OMIM:122470
Simpson-Golabi-Behmel Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia, Ventricular sept...	ORPHA:373
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Cutaneous finger syndactyly, Type...	OMIM:113000
Oligomeganephronia	Secundum atrial septal defect, Branchial cyst, Congenital diaphragmatic hernia, Pulmonary venous ...	ORPHA:2260
Sprengel Deformity	Spina bifida occulta, Sprengel anomaly, Rib segmentation abnormalities, Shoulder muscle hypoplasia	OMIM:184400
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:2790
Martinez-Frias Syndrome	Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Duoden...	OMIM:601346
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Abnormal ilium morphology, Short distal phalanx of finger, Gastroesophageal reflux, Anal stenosis...	OMIM:614080
Halperin-Birk Syndrome	Gastroesophageal reflux, Umbilical hernia, Pseudobulbar paralysis, Congenital diaphragmatic herni...	OMIM:618651
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Subluxation of the small joints of the hand, Dysplasia of the femoral head...	ORPHA:536471
Charge Syndrome	Ventricular septal defect, Overriding aorta, Atrial septal defect, Absent radius, Bilateral talip...	OMIM:214800
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dysplasia of the femoral head, Mitral valve prolapse, Arachnodactyly, Talipes equinovarus, Radiou...	ORPHA:536467
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Micrognathia, Thoraci...	OMIM:600325
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Camptodactyly of finger, Abnormal pleura morphology, Multiple joint contractures...	ORPHA:2570
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Narrow chest, Rhizomelia, 11 pairs of ribs	OMIM:617661
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process	OMIM:612913
Distal Triplication 15Q	Abnormal sternum morphology, Abnormal heart morphology, Arachnodactyly, Hernia, Atrial septal def...	ORPHA:314588
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Congenital diaphragmatic hernia, Ventricular septa...	OMIM:312870
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Cone-shaped ep...	OMIM:266920
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Brachydactyly, Abnormal cardiac septum morphology, Postaxial han...	ORPHA:2075
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Sandal gap, Short toe, Short 5th metacarpal, 11 pairs of ribs, Spina bifida occulta, Prominent st...	OMIM:617877
Distal Deletion 15Q	2-3 toe cutaneous syndactyly, Short distal phalanx of finger, Small hand, Hypoplastic left heart,...	ORPHA:1596
Tetrasomy 5P	Overlapping toe, Pericallosal lipoma, Talipes equinovarus, Short hallux, Aplasia/Hypoplasia of th...	ORPHA:3309
Charge Syndrome	Bifid femur, Gastroesophageal reflux, Umbilical hernia, Abnormal tibia morphology, Tetralogy of F...	ORPHA:138
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Congenital defect of the pericardium, Cervical ribs, Tetralogy of Fa...	ORPHA:2255
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger, Sprengel anomaly, Abnormal rib morphology, Spi...	ORPHA:2475
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Facial edema, Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Polyhydr...	ORPHA:86822
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Lymphedema, Abnormal tracheal morphology, Intestinal lymphangiectasia, Pulmonary lymphangiectasia...	OMIM:616006
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Pectus carinatum, Clinodactyly, Lymphedema, Genu valgum, Inguinal hernia, P...	OMIM:607131
Lowry-Maclean Syndrome	High, narrow palate, Atrioventricular canal defect, Congenital diaphragmatic hernia, Single trans...	ORPHA:2409
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Horizontal ribs, Short ribs, Postaxial polydactyly, Short cl...	OMIM:617088
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ...	ORPHA:2633
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Oligohydramnios, Congenital di...	OMIM:614437
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Sandal gap, Ascites, Oligohydramnios, Aplasia/Hypoplasia of the lungs, Polyhydramnios	ORPHA:1046
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Esophageal atresia, Omphalocele, Anal atresia, Cleft palate	ORPHA:95706
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Micrognath...	ORPHA:93267
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Narrow chest, Micromelia, Femoral bowing, Increased nuchal translucency, Bowing...	ORPHA:1860
Penile Agenesis	Anorectal anomaly, Oligohydramnios, Bilateral lung agenesis, Ventricular septal defect, Tracheoes...	ORPHA:49
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar synostosis, Abnormal metacarpal...	ORPHA:2319
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Narrow chest, Short toe, Clinodactyly, Radial deviati...	OMIM:218330
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Ventricular septa...	OMIM:256520
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Tetralogy of Fallot, Single trans...	ORPHA:2886
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Bell-shaped thorax, Missing ribs, Rib fusion, Spina bifida occulta, Short thora...	OMIM:613686
Cebalid Syndrome	High palate, Congenital diaphragmatic hernia	OMIM:618774
Wolf-Hirschhorn Syndrome	Short thumb, Preaxial hand polydactyly, Abnormal heart valve morphology, Abnormal thorax morpholo...	ORPHA:280
Diastrophic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Elbow dislocation, Micromelia, Short fi...	ORPHA:628
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Congenital diaphragmatic hernia, Inguinal hernia, Ventricular septal def...	OMIM:614294
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly	OMIM:114150
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Abnormal pleura morphology, Tracheoesophageal fistula, Abnormal myoc...	ORPHA:537
Bardet-Biedl Syndrome 4	Syndactyly, Brachydactyly, Polydactyly	OMIM:615982
Acalvaria	Abnormal lung lobation, Spina bifida, Omphalocele, Postaxial hand polydactyly, Cleft palate	ORPHA:945
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A...	ORPHA:3082
Meckel Syndrome, Type 6	Postaxial foot polydactyly, Occipital encephalocele, Talipes equinovarus, Bilobed right lung, Pos...	OMIM:612284
Genitopatellar Syndrome	Hypoplastic ilia, Gastroesophageal reflux, Patellar aplasia, Hip contracture, Knee flexion contra...	ORPHA:85201
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Aplasia/Hypoplasia of the radius, Intestinal malrotation, Oligohydramnios, Tracheoesophageal fist...	ORPHA:2973
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Clinodactyly, Patent foramen ovale, Brachydactyly, Osteolysis involvi...	ORPHA:88630
Absence Of The Pulmonary Artery	Recurrent pneumonia, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Tetralogy of F...	ORPHA:980
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Ventricular septal defect, Congenital muscular torticollis, Ectopic...	ORPHA:2345
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Micrognathia, Aplasia of the distal phalanges of the...	ORPHA:3472
Septo-Optic Dysplasia Spectrum	Tracheoesophageal fistula, Esophageal atresia, Cleft palate	ORPHA:3157
Iniencephaly	Rhizomelia, Spinal dysraphism, Arthrogryposis multiplex congenita, Myelomeningocele, Encephalocel...	ORPHA:63259
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Edema, Mesoaxial hand polydactyly, Aganglionic megacolon, Syndactyly,...	OMIM:236700
Diamond-Blackfan Anemia 10	Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Supern...	OMIM:613309
Ivic Syndrome	Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ...	OMIM:147750
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Umbilical hernia, Congenital diaphragmatic hernia, Patent foramen o...	OMIM:618454
Proximal 16P11.2 Microduplication Syndrome	Arachnodactyly, Congenital diaphragmatic hernia	ORPHA:370079
Meckel Syndrome, Type 8	Narrow chest, Occipital encephalocele, Encephalocele, Polydactyly, Talipes equinovarus, Pericardi...	OMIM:613885
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Decreased muscle mass, Missing ribs, Talipes equinovarus,...	ORPHA:3027
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Micrognathia, Hyperextensibility of the finger joints	OMIM:618356
Matthew-Wood Syndrome	Abnormal lung morphology, Duodenal stenosis, Congenital diaphragmatic hernia, Pulmonary hypoplasia	ORPHA:2470
Alg9-Cdg	Hypoplasia of the musculature, Ventricular septal defect, Talipes equinovarus, Broad ischia, Atri...	ORPHA:79328
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Gaucher Disease, Perinatal Lethal	Arthrogryposis multiplex congenita, Thoracic hypoplasia, Ascites, Nonimmune hydrops fetalis, Card...	OMIM:608013
Acrocephalopolydactylous Dysplasia	Micromelia, Ascites, Hypoplastic colon, Omphalocele, Postaxial hand polydactyly, Hypoplasia of th...	OMIM:200995
Aymé-Gripp Syndrome	Reduced arm span, Abnormal thorax morphology, Congenital diaphragmatic hernia, Inguinal hernia, S...	ORPHA:1272
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Oligohydramnios, Abnormal morphology of ulna, Hand polydactyly,...	ORPHA:2167
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent...	OMIM:615996
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Cone-shape...	OMIM:210600
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta	ORPHA:64754
Chronic Granulomatous Disease	Recurrent respiratory infections, Tracheoesophageal fistula, Pyloric stenosis	ORPHA:379
Ritscher-Schinzel Syndrome 1	Missing ribs, Micrognathia, Syndactyly	OMIM:220210
White-Sutton Syndrome	Bifid uvula, Broad thumb, Gastroesophageal reflux, Congenital diaphragmatic hernia, Patent forame...	OMIM:616364
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam...	OMIM:300244
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th...	ORPHA:221120
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,...	ORPHA:1988
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Rib fusion, Missing ribs, Short ribs	OMIM:271520
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor...	OMIM:619217
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Congenital diaphragmatic hernia, Foot polydactyly, Short m...	OMIM:305600
Williams Syndrome	Genu valgum, Mitral valve prolapse, Ventricular septal defect, Myopathy, Radioulnar synostosis, B...	ORPHA:904
Meier-Gorlin Syndrome 7	Pulmonary hypoplasia, Anal stenosis, Anteriorly placed anus, Preaxial hand polydactyly, Duodenal ...	OMIM:617063
Teebi Hypertelorism Syndrome 1	Small hand, Ventricular septal defect, Atrial septal defect, Omphalocele, Broad palm, Pulmonary h...	OMIM:145420
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti...	ORPHA:254534
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Ulnar deviation of the hand or of fingers of the hand, Epiphyseal stippling,...	OMIM:214100
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Treacher-Collins Syndrome	Branchial fistula, Abnormal dental enamel morphology, Encephalocele, Glossoptosis, Tracheoesophag...	ORPHA:861
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino...	OMIM:271640
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Spontaneous pneumothorax, Bifid uvula, Broad uvula, Abnormal sternum mor...	OMIM:619656
Isolated Split Hand-Split Foot Malformation	Oligodactyly, Absent hand, Split hand, Finger syndactyly	ORPHA:2440
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus...	ORPHA:93323
Cranioectodermal Dysplasia 2	Rhizomelia, Narrow chest, Clinodactyly, Micrognathia, Horizontal ribs, Polydactyly, Short ribs, B...	OMIM:613610
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Ventricular septal defect, Bowing of the long bones, Tal...	OMIM:614815
Cdags Syndrome	Short clavicles, Short ribs	OMIM:603116
Nephronophthisis 2	Oligohydramnios, Situs inversus totalis, Pulmonary hypoplasia	OMIM:602088
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Encephalocele, Limited elbow movement, Tal...	OMIM:134780
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ...	OMIM:268310
Fanconi Anemia, Complementation Group L	Absent thumb, Tracheoesophageal fistula, Esophageal atresia, Absent radius, Bilateral talipes equ...	OMIM:614083
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short 5th finger, Broad thumb, Microretrognathia, Broad hallux, Preaxial hand polydactyly, Overla...	ORPHA:508498
Maternal Uniparental Disomy Of Chromosome 2	Contractures of the large joints, Preaxial hand polydactyly, Oligohydramnios, Respiratory infecti...	ORPHA:96179
Holoprosencephaly	Spinal dysraphism, Gastroesophageal reflux, Tetralogy of Fallot, Abnormal pulmonary valve morphol...	ORPHA:2162
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Large placenta, Bowing of the ...	OMIM:249000
Dyskeratosis Congenita	Palmoplantar keratoderma, Oral leukoplakia, Coarse metaphyseal trabecularization, Anorectal anoma...	ORPHA:1775
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Cardiomegaly, Talipes equinovarus, Pneumothorax, Limb hypertonia, Short femur, Pulmo...	OMIM:620306
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615986
Diets-Jongmans Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Ventricular septal defect, Hi...	OMIM:618846
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Hydranencephaly, Pulmonary artery atresia, Tracheomalacia, Atelectasis, Patent for...	OMIM:620371
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Narrow chest, Finger syndactyly, Abnormal diaphysis m...	ORPHA:1515
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista...	OMIM:269150
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Neu-Laxova Syndrome	Bifid uvula, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal ...	ORPHA:2671
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Interstitial emphysema, Overlapping fingers, Knee flexion co...	OMIM:619708
Oculoauriculovertebral Spectrum With Radial Defects	Preaxial hand polydactyly, Atrioventricular canal defect, Aplasia/Hypoplasia of the thumb, Ectopi...	ORPHA:2549
Restrictive Dermopathy 1	Rocker bottom foot, Overtubulated long bones, Flexion contracture, Increased anterioposterior dia...	OMIM:275210
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Cleft palate	ORPHA:1915
Ulbright-Hodes Syndrome	Thin ribs, Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostos...	ORPHA:3404
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me...	ORPHA:3429
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Seckel Syndrome 5	Clinodactyly of the 5th finger, 11 pairs of ribs, Micrognathia, Short middle phalanx of finger	OMIM:613823
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, High palate, Recurrent aspiration pneumonia, Cleft palate, Syndactyly	OMIM:300484
Osteogenesis Imperfecta	Thin ribs, Abnormal tibia morphology, Genu valgum, Mitral valve prolapse, Intestinal obstruction,...	ORPHA:666
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Bronchiolitis, Polydactyly	OMIM:615993
Campomelic Dysplasia	Small abnormally formed scapulae, Narrow chest, 11 pairs of ribs, Femoral bowing, Micrognathia, T...	ORPHA:140
Pelger-Huet Anomaly	Short 3rd metacarpal, Upper limb undergrowth, Umbilical hernia, Short 5th metacarpal, Median clef...	OMIM:169400
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Renal Hypodysplasia/Aplasia 1	Talipes equinovarus, Oligohydramnios, Pulmonary hypoplasia	OMIM:191830
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Orofaciodigital Syndrome Xvii	High, narrow palate, Clinodactyly, Tetralogy of Fallot, Partial duplication of thumb phalanx, Sho...	OMIM:617926
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Myelomeningocele, V...	ORPHA:2876
Truncus Arteriosus	Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery hypoplasia, Abnormal lung...	ORPHA:3384
Meckel Syndrome, Type 2	Intestinal malrotation, Encephalocele, Polydactyly, Bowing of the long bones, Omphalocele, Postax...	OMIM:603194
Campomelic Dysplasia	Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,...	OMIM:114290
Hallermann-Streiff Syndrome	Small hand, Rib exostoses, Micrognathia, Short ribs, Clinodactyly of the 5th finger, Short foot	ORPHA:2108
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth, Long thorax	OMIM:619142
Raine Syndrome	Micromelia, Thoracic hypoplasia, Long hallux, Protruding tongue, Neonatal death, Bowing of the lo...	OMIM:259775
Restrictive Dermopathy	Thin ribs, Microcolon, Arthrogryposis multiplex congenita, Camptodactyly of finger, Small placent...	ORPHA:1662
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Broncho...	OMIM:265300
Isolated Anencephaly	Congenital diaphragmatic hernia, Omphalocele	ORPHA:563609
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, Ventricular septal defect, At...	OMIM:135900
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Tracheomalacia, Congenital diaphragmatic hernia, Single transverse palmar ...	ORPHA:96121
3C Syndrome	Finger syndactyly, Abnormal hip bone morphology, Micrognathia, Missing ribs, Hand polydactyly, Br...	ORPHA:7
Shprintzen-Goldberg Syndrome	Pectus carinatum, Narrow chest, Elbow dislocation, Camptodactyly of finger, Umbilical hernia, Gen...	ORPHA:2462
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm	OMIM:618238
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, Atrial septal defect, High palate, Short distal phalanx...	OMIM:620662
Renal Agenesis	Oligohydramnios, Ventricular septal defect, Talipes equinovarus, Anal atresia, Pulmonary hypoplasia	ORPHA:411709
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Small hand, Gastroesophageal reflux, Clinodactyly, Broad hallux, Contracture of the proximal inte...	OMIM:301044
White-Sutton Syndrome	Gastroesophageal reflux, Abnormal heart morphology, Congenital diaphragmatic hernia, Inguinal her...	ORPHA:468678
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty...	OMIM:252100
3P25.3 Microdeletion Syndrome	High, narrow palate, Pyloric stenosis, Broad thumb, Skeletal muscle atrophy, Broad hallux, Overla...	ORPHA:435638
Ogden Syndrome	Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve, Atrial septal defect, Torticol...	OMIM:300855
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Keloids, Abnormal pelvis bone ossification,...	ORPHA:166119
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Ventricular septal defect, Duplication of phalanx of hallux, Atrial se...	OMIM:263630
Constricting Bands, Congenital	Abnormal rib cage morphology, Abnormal lung lobation, Encephalocele, Talipes equinovarus, Hand po...	OMIM:217100
Microlissencephaly-Micromelia Syndrome	Adducted thumb, Micromelia, Bilateral single transverse palmar creases, 11 pairs of ribs	ORPHA:50810
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, High, narrow palate, Bifid uvula, Finger syndactyly, Micromelia,...	ORPHA:2753
Schinzel-Giedion Syndrome	Overlapping toe, Overlapping fingers, Radioulnar synostosis, Hepatoblastoma, High palate, Dysphag...	ORPHA:798
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ul...	OMIM:212780
Perlman Syndrome	Distal ileal atresia, Volvulus, Ascites, Congenital diaphragmatic hernia, Polyhydramnios, Hypopla...	OMIM:267000
Tetraamelia-Multiple Malformations Syndrome	Abnormal lung lobation, Aplasia/Hypoplasia involving the pelvis, Tracheal stenosis, Missing ribs,...	ORPHA:3301
Melnick-Needles Syndrome	Short distal phalanx of finger, Hip dislocation, Narrow chest, Abnormal rib morphology, Abnormal ...	ORPHA:2484
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Congenital diaphragmatic hernia, Cleft palate	OMIM:606164
Kyphomelic Dysplasia	Radial bowing, Micromelia, Flared metaphysis, Thoracic hypoplasia, Dumbbell-shaped humerus, Later...	OMIM:211350
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Elbow dislocation, Bilateral single transverse palmar creases, Congen...	ORPHA:199
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Dehydration, Oligohydramnios, Neonatal death, Hematemesis, Esophageal varix, Pulmonary hypoplasia	OMIM:263200
Tetraamelia Syndrome 1	Abnormal clavicle morphology, Abnormal scapula morphology, Hypoplastic pelvis, Congenital diaphra...	OMIM:273395
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Overlapping toe, Overlapping fingers, Ventricular septal defect, Postaxial ...	OMIM:618142
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hernia, Polydactyly, Ventricular septal defect, Syndactyly	OMIM:602501
Tarp Syndrome	Meckel diverticulum, Clinodactyly, Tetralogy of Fallot, Oligohydramnios, Single transverse palmar...	OMIM:311900
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Small placenta, Oligohydramnios, Inguinal hernia, Polydactyly, Cl...	ORPHA:397590
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik...	OMIM:605282
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Elbow dislocation, Abnormal rib morphology, Missing ribs, Aplasia...	ORPHA:2769
Linear Skin Defects With Multiple Congenital Anomalies 1	Colonic atresia, Anteriorly placed anus, Congenital diaphragmatic hernia, Histiocytoid cardiomyop...	OMIM:309801
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Narrow chest, Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Short tho...	ORPHA:93271
ERI1-related disease	Pectus carinatum, Narrow chest, Velopharyngeal insufficiency, Slender metacarpals, Oligodactyly, ...	OMIM:608739
C Syndrome	Toe syndactyly, Micromelia, Bilateral single transverse palmar creases, Congenital diaphragmatic ...	ORPHA:1308
Joubert Syndrome 21	Bell-shaped thorax, Occipital encephalocele, Encephalocele, Short ribs	OMIM:615636
Adams-Oliver Syndrome 5	Umbilical hernia, Inguinal hernia, Patent foramen ovale, Esophageal varix, Brachydactyly, Right a...	OMIM:616028
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall...	OMIM:300963
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Finger aplasia, Pectus carinatum, Absent toe, Clinodactyly of the 2nd finger, Clinodactyly of the...	OMIM:620663
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Meckel Syndrome, Type 3	Postaxial hand polydactyly, Postaxial foot polydactyly, Occipital encephalocele, Polydactyly	OMIM:607361
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Narrow chest, Synostosis ...	ORPHA:289
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Gastroesophageal reflux, Carpal synostosis, Muscular ventricular septal de...	OMIM:157800
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Ventricular septal defect...	OMIM:146510
Suleiman-El-Hattab Syndrome	Clinodactyly, Inguinal hernia, Single transverse palmar crease, Polydactyly, Ventricular septal d...	OMIM:618950
Congenital Sialidosis Type 2	Umbilical hernia, Ascites, Abnormal heart morphology, Respiratory tract infection, Protruding ton...	ORPHA:93400
Fraser Syndrome	Anal stenosis, Toe syndactyly, Finger syndactyly, Abnormal lung lobation, Myelomeningocele, Umbil...	ORPHA:2052
Retinitis Pigmentosa 89	Postaxial polydactyly, Bicuspid aortic valve, Esophageal varix	OMIM:618955
Nephronophthisis 15	Polydactyly	OMIM:614845
Limb-Mammary Syndrome	Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly	OMIM:603543
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Ventricular septal defect, Atrial septal defect, Pat...	OMIM:270400
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Diastasis recti, Polydactyly, Clinodactyly of the 5th finger, High palate, Upper limb asymmetry	ORPHA:231140
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Bilateral single transverse palmar creases, Abnormal mitral val...	ORPHA:3310
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Intestinal malrotation, Oligohydramnios, Situs inversus totalis, Neonatal ...	OMIM:208540
Fontaine Progeroid Syndrome	Protruding tongue, Reduced subcutaneous adipose tissue, Neonatal death, Bicuspid aortic valve, At...	OMIM:612289
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han...	OMIM:615994
Pallister-Killian Syndrome	Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Congenital diaphragmatic hernia, V...	OMIM:601803
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Broad thumb, Gastroesophageal reflux, Prominent fingertip pads, Genu valg...	OMIM:619721
Lymphatic Malformation 6	Facial edema, Generalized edema, Cellulitis, Gastroesophageal reflux, Chylothorax, Lymphedema, As...	OMIM:616843
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Narrow chest, Clinodactyly, Cardiomyopathy, Tracheomalacia, Anteriorly placed anus, Tracheal sten...	OMIM:217980
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Lymphedema, Oligohydramnios, Abnormal thorax morphology, Bowing of ...	ORPHA:1318
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Ileal atresia, Oligohydramnios, Bronchomalacia, Patent ductus arteriosus, Pulmonary h...	OMIM:619351
Monosomy 9P	Abnormality of the tarsal bones, Bilateral single transverse palmar creases, Congenital diaphragm...	ORPHA:261112
Adams-Oliver Syndrome 6	Foot oligodactyly, Truncus arteriosus, Ventricular septal defect, Brachydactyly, Esophageal varix...	OMIM:616589
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Congenital diaphrag...	OMIM:301022
Renal Tubular Dysgenesis	Oligohydramnios, Pulmonary hypoplasia	OMIM:267430
Grange Syndrome	Short palm, Syndactyly	ORPHA:79094
Meckel Syndrome, Type 10	Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar de...	OMIM:614175
Cerebrocostomandibular Syndrome	Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra...	OMIM:117650
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Arthrogryposis Multiplex Congenita 5	Hand clenching, Umbilical hernia, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Tali...	OMIM:618947
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Orofaciodigital Syndrome Xiv	Microretrognathia, Occipital encephalocele, Broad hallux, Preaxial polydactyly, Micrognathia, Sho...	OMIM:615948
Duane-Radial Ray Syndrome	Ventricular septal defect, Aplasia of metacarpal bones, Small thenar eminence, Atrial septal defe...	OMIM:607323
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Anomalous origin of right pulmonary artery from ascending aorta, Tetralog...	ORPHA:99050
Wiedemann-Steiner Syndrome	Rhizomelia, Clinodactyly, Abnormality of the hand, Aplasia/Hypoplasia of the ribs, Pectus excavat...	ORPHA:319182
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, 11 pairs of ribs, Encephalocele, 2-3 toe syndactyly, Postaxial hand p...	OMIM:264480
Conotruncal Heart Malformations	Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ...	OMIM:217095
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Witteveen-Kolk Syndrome	High, narrow palate, Small hand, Toe syndactyly, Branchial fistula, Short thumb, Clinodactyly, Ra...	OMIM:613406
Genitopatellar Syndrome	Congenital hip dislocation, Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, In...	OMIM:606170
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
Dextrocardia	Congenital hip dislocation, Meckel diverticulum, Abnormal lung lobation, Abnormal heart morpholog...	ORPHA:1666
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypopl...	ORPHA:3186
Steinfeld Syndrome	Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, ...	OMIM:184705
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Kabuki Syndrome	Short 5th finger, Small hand, Short middle phalanx of finger, Congenital diaphragmatic hernia, Ab...	ORPHA:2322
Pfeiffer Syndrome	Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin...	OMIM:101600
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Ataxia-Telangiectasia-Like Disorder 2	Dysphagia, Congenital diaphragmatic hernia, Joint contracture	OMIM:615919
Joubert Syndrome 15	Exencephaly, Preaxial polydactyly	OMIM:614464
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Pyloric stenosis, Overlapping toe, Contracture of the distal interphalangeal joint of ...	ORPHA:83617
Fraser Syndrome 1	Aplasia/Hypoplasia of the sternum, Abnormal heart morphology, Myelomeningocele, Cutaneous finger ...	OMIM:219000
Hydrolethalus Syndrome 1	Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Abnormal lung lobation, Tracheal s...	OMIM:236680
Beckwith-Wiedemann Syndrome	Umbilical hernia, Hypertrophic cardiomyopathy, Large placenta, Diastasis recti, Congenital diaphr...	ORPHA:116
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Endocrine-Cerebroosteodysplasia	Narrow chest, Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Micrognathia, Tibial ...	OMIM:612651
Epidermolysis Bullosa, Lethal Acantholytic	Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tapered distal ...	OMIM:609638
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic...	OMIM:618164
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Pulmonary hypoplasia	OMIM:231680
Jacobsen Syndrome	Toe clinodactyly, Toe syndactyly, Finger syndactyly, Short toe, Long hallux, Missing ribs, Hand p...	ORPHA:2308
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Joubert Syndrome 23	Polydactyly	OMIM:616490
Robinow Syndrome	Short distal phalanx of finger, Radioulnar dislocation, Umbilical hernia, Micrognathia, Missing r...	ORPHA:97360
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Encephalocele, Postaxial hand polydactyly	OMIM:611560
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Tracheal calcification, Hemiatrophy, Stippled...	OMIM:302960
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypoplastic ischia, Polydactyly	OMIM:616910
Apert Syndrome	Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta...	OMIM:101200
Tbck-Related Intellectual Disability Syndrome	Clinodactyly, 11 pairs of ribs, 2-3 toe syndactyly, Limb undergrowth, Broad toe, Pectus excavatum...	ORPHA:488632
Laurence-Moon Syndrome	Abnormality of the hand, Polydactyly	OMIM:245800
20P13 Microdeletion Syndrome	Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly	ORPHA:313781
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm shortening, Ilia...	ORPHA:93317
Aicardi Syndrome	Small hand, Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs, Hip dysplasia	ORPHA:50
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Abnormal heart morphology, Polyhydramnios, Inguinal hernia, Single...	OMIM:247200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba...	OMIM:276820
Aicardi Syndrome	Missing ribs, Rib fusion, Supernumerary ribs, Spina bifida, Bifid ribs, Proximal placement of thumb	OMIM:304050
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal rectum morphology, Abnormal dental ...	ORPHA:2556
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Anal atresia, Syndactyly, Prominent fin...	OMIM:305450
Right Atrial Isomerism	Common atrium, Total anomalous pulmonary venous return, Abnormal lung lobation, Tetralogy of Fall...	OMIM:208530
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Narrow chest, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, 11 pa...	OMIM:105650
Fraser Syndrome 3	Short toe, Abnormal lung lobation, Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Tracheal ...	OMIM:617667
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Knee flexion contracture, Thoracic scoliosis, Postaxial polydactyly, Ven...	OMIM:603387
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Umbilical hernia, Mitral valve prolapse, Cubitus valgus, Pectus excav...	OMIM:104350
Orofaciodigital Syndrome V	Bifid uvula, Postaxial foot polydactyly, Sandal gap, Tetralogy of Fallot, Ankyloglossia, Hamartom...	OMIM:174300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra...	OMIM:210710
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly	OMIM:149000
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia, Neonatal death	OMIM:194080
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Postaxial foot polydactyly, Finger syndactyly, Tetralogy of Fallot, High ...	ORPHA:2473
Cerebrofacioarticular Syndrome	Anal stenosis, Caudal appendage, Tracheomalacia, Anteriorly placed anus, Lymphedema, Abnormal hea...	ORPHA:314679
Dpagt1-Cdg	Anasarca, Clinodactyly, Arachnodactyly, Lipodystrophy, Camptodactyly, Flexion contracture, Pulmon...	ORPHA:86309
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Abnormal heart morphology, Oligohydramnios, Congenital diaphragmatic hernia	OMIM:617641
Leopard Syndrome 1	Pectus carinatum, Limited elbow movement, Missing ribs, Cubitus valgus, Spina bifida occulta, Sca...	OMIM:151100
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Tetraploidy	Radial club hand, Aplasia/Hypoplasia of the lungs, Cleft palate	ORPHA:3305
Cranioectodermal Dysplasia 3	Rhizomelia, 2-4 toe syndactyly, Narrow chest, Sandal gap, Micrognathia, Postaxial polydactyly, 2-...	OMIM:614099
Jacobsen Syndrome	Micrognathia, Missing ribs, Brachydactyly, Clinodactyly of the 5th finger, Pectus excavatum	OMIM:147791
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Spontaneous pneumothorax, Recurrent pneumonia, Gastrointestinal hemor...	ORPHA:731
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
9Q21.13 Microdeletion Syndrome	Abnormal tongue morphology, Abnormal heart morphology, Polydactyly, Gastrointestinal dysmotility,...	ORPHA:531151
Floating-Harbor Syndrome	Broad thumb, Short 1st metacarpal, Ivory epiphyses of the distal phalanges of the hand, Umbilical...	OMIM:136140
Microphthalmia, Syndromic 1	High, narrow palate, Pyloric stenosis, Joint contracture of the hand, Pulmonary hypoplasia, Narro...	OMIM:309800
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fifth metatarsal, Slender finger, Asymmetry of the thorax, Cone-shaped epiphysis, Aplasia o...	OMIM:619841
Joubert Syndrome 27	Polydactyly	OMIM:617120
Carpenter Syndrome 2	Broad thumb, Cutaneous finger syndactyly, Talipes equinovarus, Atrial septal defect, Dextrocardia...	OMIM:614976
Orofaciodigital Syndrome Type 6	Lobulated tongue, Finger clinodactyly, Preaxial polydactyly, Abnormal heart morphology, Hamartoma...	ORPHA:2754
Microphthalmia, Syndromic 3	Missing ribs, Supernumerary ribs, Rib fusion, Vertebral hypoplasia	OMIM:206900
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
6Q Terminal Deletion Syndrome	Micrognathia, Hallux valgus, Clinodactyly, Aplasia/Hypoplasia of the ribs	ORPHA:75857
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Mitral valve prolapse, Ventricular septal defect, Talipes eq...	OMIM:180849
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Mitral valve prolapse, Arachnodactyly, Talipes equinovarus, Bicusp...	OMIM:610168
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia, Abnormal heart morphology, Polydactyly, High palate	ORPHA:314655
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Toe syndactyly, Gastroesophageal reflux, Duodenal atresia, Oligohydramnios...	ORPHA:464306
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o...	OMIM:212093
Tetraamelia Syndrome 2	Ankyloglossia, Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins, G...	OMIM:618021
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe...	ORPHA:672
Legius Syndrome	Abnormal sternum morphology, Mitral valve prolapse, Polydactyly, Multiple lipomas, Non-small cell...	ORPHA:137605
Joubert Syndrome 39	Postaxial polydactyly, Hypoplastic left heart, Occipital encephalocele, Joint contracture of the ...	OMIM:619562
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Increased variability in muscle fiber diameter, Gastroesophageal re...	ORPHA:17
Choanal Atresia	Recurrent respiratory infections, Tracheomalacia, Polydactyly	ORPHA:137914
Orofaciodigital Syndrome I	Clinodactyly, Radial deviation of finger, Lobulated tongue, Abnormal heart morphology, Myelomenin...	OMIM:311200
Adnp Syndrome	Recurrent upper respiratory tract infections, Broad thumb, Gastroesophageal reflux, Sandal gap, B...	ORPHA:404448
Monosomy 9Q22.3	Palmar pits, Umbilical hernia, Cardiac fibroma, Polydactyly, Abnormal rib morphology, Pectus exca...	ORPHA:77301
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Small hand, 11 pairs of ribs, Micrognathia, Hip dysplasia, Tapered finger	OMIM:620005
Loeys-Dietz Syndrome 1	Hypoplasia of the musculature, Mitral valve prolapse, Arachnodactyly, Talipes equinovarus, Bicusp...	OMIM:609192
Faciodigitogenital Syndrome, Autosomal Recessive	Abnormal rib cage morphology, Down-sloping shoulders, Broad palm, Metatarsus adductus, Camptodact...	OMIM:227330
Kinsship Syndrome	Cervical ribs, Micrognathia, Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Su...	OMIM:619297
Floating-Harbor Syndrome	Clinodactyly, Short thumb, Avascular necrosis of the capital femoral epiphysis, 11 pairs of ribs,...	ORPHA:2044
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly	OMIM:615989
Degcags Syndrome	Toe syndactyly, Oral-pharyngeal dysphagia, Genu valgum, Protruding tongue, Ventricular septal def...	OMIM:619488
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, 11 pairs of ribs, Sirenomelia, Aplasia/Hypoplas...	ORPHA:79500
Craniofacial Microsomia 1	Hypoplasia of facial musculature, Occipital encephalocele, Cervical ribs, Tetralogy of Fallot, Ge...	OMIM:164210
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Small hand, Gastroesophageal reflux, Sandal gap, Prominent fingertip pads, S...	OMIM:615873
1P36 Deletion Syndrome	Camptodactyly of finger, 11 pairs of ribs, Clinodactyly of the 5th finger, Rib fusion, Brachydact...	ORPHA:1606
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Broad first met...	OMIM:619534
Oeis Complex	Congenital hip dislocation, Absence of the sacrum, Myelomeningocele, 11 pairs of ribs, Talipes eq...	OMIM:258040
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Polyhydramnios, Ventricular septal defect	OMIM:219730
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Pyloric stenosis, Gastroesophageal reflux, Short 5th toe, 2-4 toe cutaneou...	ORPHA:268261
Zttk Syndrome	Bifid uvula, Small hand, Cervical ribs, Submucous cleft hard palate, Ventricular septal defect, R...	OMIM:617140
Mend Syndrome	Microretrognathia, Broad hallux, Overlapping toe, Overlapping fingers, Micrognathia, Polydactyly,...	OMIM:300960
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Broad thumb, Ventricular septal defect, Bicuspid aortic valve, Atrial sept...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Broad thumb, Ventricular septal defect, Bicuspid aortic valve, Atrial sept...	ORPHA:353277
Faciocardiomelic Syndrome	Narrow chest, Slender long bone, Micrognathia, Hypoplastic pelvis, Polydactyly	OMIM:612731
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Camptodactyly of finger, 11 pairs of ribs, Rib fusion, Brachydactyly, Metatarsu...	OMIM:607872
Okamoto Syndrome	Aortic valve stenosis, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, ...	ORPHA:2729
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Atrial septal defect, Posta...	OMIM:619471
Rabson-Mendenhall Syndrome	Cardiomyopathy, Furrowed tongue, Reduced subcutaneous adipose tissue, Ventricular septal defect, ...	ORPHA:769
Grange Syndrome	Coronary artery stenosis, Finger clinodactyly, Bicuspid aortic valve, Brachydactyly, Syndactyly	OMIM:602531
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Occipital encephalocele, Anencephaly	OMIM:615287
Neurocardiofaciodigital Syndrome	Tetralogy of Fallot, Polydactyly, Atrial septal defect, High palate, Double inlet left ventricle,...	OMIM:619869
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Ventricular septal defect, Abnormal metacarpal morphology, Atrial septal defect, Ab...	OMIM:268300
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Gastroesophageal reflux, Absent thumb, Slender long bone, Cervical ribs, Emphysema, ...	ORPHA:500150
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Xerostomia, Short thumb, Broad hallux, Preaxial polydactyly, Radi...	OMIM:149730
Microphthalmia, Syndromic 6	Toe syndactyly, Finger syndactyly, Thumb contracture, Micrognathia, Single transverse palmar crea...	OMIM:607932
Alstrom Syndrome	Recurrent pneumonia, Dilated cardiomyopathy, Polydactyly	OMIM:203800
Combined Pituitary Hormone Deficiencies, Genetic Forms	Abnormal digit morphology, Median cleft palate, Polydactyly	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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