Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
wingless-type MMTV integration site family, member 9A
Synonyms:
Wnt14

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Wnt9a 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Wnt9a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Increased laxity of ankles, Flat acetabul... ORPHA:750
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti... OMIM:113000
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... ORPHA:337
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Legg-Calvé-Perthes Disease
Delayed skeletal maturation, Cartilage destruction, Joint dislocation, Avascular necrosis ORPHA:2380
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve... OMIM:250460
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibilit... OMIM:610967
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Knee pain, Short long bone, ... ORPHA:93308
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short iliac bones, Squared-off platyspondyly, Lumbar hypolordosis, Platyspondyly, Int... OMIM:271530
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Stillbirth, Sandal gap, Bifid humerus, Short greater sciatic n... OMIM:256050
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Short long bone, Hyperlordosis, Accelerated skeletal maturation, Flattened epiphy... OMIM:618363
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Abnormal bone ossification, Platyspondyly, Abnormal femoral neck/... ORPHA:163649
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly, Abnormal metacarpal morphology OMIM:269630
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Osteogenesis Imperfecta, Type Iii
Slender long bone, Wide anterior fontanel, Scoliosis, Tibial bowing, Kyphosis, Multiple prenatal ... OMIM:259420
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Genu valgum, Intervertebral space narrowing, Irregular epiphyses of the ... OMIM:614078
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis, Short long bone, Upper-limb ... OMIM:618728
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi... ORPHA:93346
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati... OMIM:184260
Diastrophic Dysplasia
Kyphoscoliosis, Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Scoliosis, Shor... OMIM:222600
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Short tubular bones of the hand, Abnormal diaphysis morphology, Obtuse angle of mandi... ORPHA:85184
Alpha-Mannosidosis
Avascular necrosis, Arthritis, Mandibular prognathia, Scoliosis, Synostosis of joints, Bowing of ... ORPHA:61
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Retrognathia, Small epiphyses, Scoliosis, Short long bone, Knee dislocation, Lumbar scoliosis, Jo... OMIM:620269
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wide anterior fontanel, Shortening of all phalanges of fingers, Wormian bones, Sho... OMIM:601356
Hao-Fountain Syndrome
Hallux valgus, Delayed cranial suture closure, Clinodactyly of the 5th finger, Large fontanelles OMIM:616863
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Otosclero... OMIM:166220
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis, Multiple prenatal fractures, Decreased calvarial ossification... OMIM:259440
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Short distal phalanx of finger, Brachydactyly, Wormian bones, Joint hypermobility ORPHA:2787
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Mandibular pr... OMIM:269300
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormal thumb morphology, Large fontanelles, Abnormality of the wrist, Abnormal metacarpal morph... ORPHA:2511
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple small vertebr... OMIM:619795
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal hip bone morphology, Hyperlordosis, Abnormal epiphysis mor... ORPHA:970
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Mesomelia-Synostoses Syndrome
Abnormality of the wrist, Genu valgum, Abnormal femur morphology, Abnormal tibia morphology, Abno... ORPHA:2496
Achondroplasia
Limited elbow extension, Narrow greater sciatic notch, Short proximal phalanx of finger, Cervical... ORPHA:15
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Abnormality of t... ORPHA:93316
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Abnormal cartilage matrix, Flared metaphysis, Wide anterior fontanel... ORPHA:2347
Osteogenesis Imperfecta, Type Viii
Osteopenia, Platyspondyly, Vertebral compression fracture, Slender long bone, Femoral retroversio... OMIM:610915
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Large fontanelles, Delayed cranial suture closure, Mandibular aplasia, Micrognathia... ORPHA:1832
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Scoliosis, Hypermobility of i... OMIM:613849
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalanges... OMIM:609616
Hypochondroplasia
Limited elbow extension, Flared metaphysis, Short long bone, Trident hand, Widened interpedicular... OMIM:146000
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Grant Syndrome
Large fontanelles, Joint dislocation, Wormian bones, Decreased skull ossification, Bowing of the ... ORPHA:2097
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Joint subluxation, Hallux valgus, Scoliosis, Ky... OMIM:130060
Kniest Dysplasia
Platyspondyly, Tracheomalacia, Delayed epiphyseal ossification, Splayed epiphyses, Flared metaphy... OMIM:156550
Osteogenesis Imperfecta, Type Xi
Osteopenia, Kyphoscoliosis, Vertebral compression fracture, Vertebral wedging, Wormian bones, Sco... OMIM:610968
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Femoral bowing, Biconcave flattened vertebrae, Dentinogenesis imperfect... OMIM:166200
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Flexion contrac... ORPHA:485
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Wormian bones, Limitation of joint mobility, Toe clinodactyly, Dentinogen... ORPHA:166277
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short long bone, Dumbbell-shaped long bone, Hypoplastic ischia, Fib... OMIM:228520
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu... OMIM:259600
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Beaking of vertebral bodies, Platyspondyly, Large tarsal bones, Flared metaphysis, Short long bon... OMIM:215150
Larsen-Like Syndrome, Lethal Type
Multiple joint dislocation, Abnormal cartilage matrix, Joint dislocation, Tracheomalacia, Neonata... OMIM:245650
Chromosome 16Q22 Deletion Syndrome
Wide anterior fontanel, Prominent metopic ridge, Micrognathia, Broad hallux, Hip dysplasia, Wormi... OMIM:614541
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Brachyd... OMIM:610017
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet... ORPHA:94068
Familial Calcium Pyrophosphate Deposition
Abnormal intervertebral disk morphology, Joint dislocation, Arthritis, Limitation of joint mobili... ORPHA:1416
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Comple... ORPHA:363417
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal form of ... ORPHA:2050
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o... ORPHA:3258
Bruck Syndrome
Platyspondyly, Pterygium, Scoliosis, Bowing of the long bones, Osteoporosis, Kyphosis, Joint stif... ORPHA:2771
Grant Syndrome
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Large fontanelles, Death in childhood, Wide distal femoral metaphysis, Delayed epiphyseal ossific... OMIM:613320
Ollier Disease
Abnormal metaphysis morphology, Bone pain, Joint stiffness, Abnormal cartilage morphology, Multip... ORPHA:296
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Short long bone, Hyperlordosis, Metaphyseal irregularity, Abno... ORPHA:93352
Microphthalmia With Limb Anomalies
Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Death in infan... ORPHA:1106
Stuve-Wiedemann Syndrome 2
Stillbirth, Scoliosis, Short long bone, Bowing of the long bones, Camptodactyly, Death in adolesc... OMIM:619751
Cleidocranial Dysplasia
Decreased skull ossification, Abnormal epiphysis morphology, Abnormal sacrum morphology, Abnormal... ORPHA:1452
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental enamel morphology... ORPHA:1798
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Delayed skeletal maturation, Short palm, Short pha... OMIM:102370
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Increased bone mineral density, Narrow iliac wing, Osteolytic d... OMIM:265800
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Large fontanelles, Delayed cranial suture closu... ORPHA:2249
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Platyspondyly, Vertebral compression fracture, Angulated humerus, Wormian bones, Shor... OMIM:616229
Geroderma Osteodysplasticum
Osteopenia, Kyphoscoliosis, Beaking of vertebral bodies, Platyspondyly, Vertebral compression fra... OMIM:231070
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext... ORPHA:239
Osteogenesis Imperfecta, Type Vii
Osteopenia, Crumpled long bones, Vertebral compression fracture, Femoral retroversion, Wide anter... OMIM:610682
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Persistent ope... ORPHA:763
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,... ORPHA:457395
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me... OMIM:614856
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Femoral bowing, Bowing of the long bones, Generalized osteoporosi... OMIM:617952
Acrocephalopolydactyly
Genu recurvatum, Short long bone, Brachydactyly, Premature closure of fontanelles, Short neck ORPHA:221054
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Short long bone, Vertebral segmentation defect, Death in infancy, Vertebral fusion OMIM:618845
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Accelerated skeletal maturation, Micrognathia, Generali... ORPHA:1423
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Delayed eruption... ORPHA:2484
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Retrognathia, Wide anterior fontanel, Short long bone, Decreased sk... OMIM:263210
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Platyspondyly, Narrow iliac wing, Kyphosis, Coronal cran... OMIM:616294
Cleidocranial Dysplasia 2
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Wide anterior font... OMIM:620099
Bruck Syndrome 2
Osteopenia, Platyspondyly, Pterygium, Elbow flexion contracture, Femoral bowing, Flexion contract... OMIM:609220
Van Maldergem Syndrome 1
Osteopenia, Short 4th metacarpal, Sacral dimple, Tracheomalacia, Wide anterior fontanel, Short cl... OMIM:601390
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Cole-Carpenter Syndrome 1
Osteopenia, Reduced bone mineral density, Vertebral compression fracture, Scoliosis, Coronal cran... OMIM:112240
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Craniosynostosis, Y-shaped metatarsals, Delayed cranial suture closure, Posta... OMIM:175700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Short 3rd meta... OMIM:118651
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Platyspondyly, Femoral bowing, Thoracic kyphosis, Broad thumb, Delayed skel... OMIM:619638
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Wormian bones, Scoliosis, Osteoporosis, Coxa vara, Bowing of the arm, Joint hyperm... OMIM:619131
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short finger, Platyspondyly, Small epiphyses, Thoracic kyphosis, Flared iliac win... OMIM:300232
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ... ORPHA:93315
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Delayed skeletal maturation, Short distal ph... OMIM:210720
Autosomal Recessive Kenny-Caffey Syndrome
Calvarial osteosclerosis, Delayed cranial suture closure, Decreased skull ossification, Thin long... ORPHA:93324
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Decreased calvarial ossification, Multiple prenatal fractures, Wormian bones, Bowing ... OMIM:259410
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Decreased cranial base ossification, Metaphyseal cupping, Hypoplastic pubic bone, Sho... OMIM:151210
Bartsocas-Papas Syndrome
Popliteal pterygium, Finger syndactyly, Synostosis of joints, Aplasia/Hypoplasia of the distal ph... ORPHA:1234
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middle phalanx of finger, Tho... OMIM:309620
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short long bone, Hyperlordosis, Kyphosis, Metaphyseal irregularity, Joint hypermo... OMIM:618019
Laron Syndrome
Delayed skeletal maturation, Short long bone, Abnormal joint morphology OMIM:262500
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Brachydactyly, Wormian bones ORPHA:2863
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Death in childhood, Lumbar platyspondyly, Increased intervertebral s... OMIM:618961
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb bone ... ORPHA:2788
Craniosynostosis 2
Supernumerary tooth, Triphalangeal thumb, Unicoronal synostosis, Bicoronal synostosis, Metopic sy... OMIM:604757
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Short long bone, Short metacarpal, Flared iliac w... OMIM:271665
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Delayed skeletal maturation, Congenital hip dislocation, Delayed eruption of teeth OMIM:614450
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Large fontanelles, Platyspondyly, Crumpled long bones, Tibial bo... OMIM:166210
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Retrognathia, Osteopetrosis, Large fontanelles, Spina bifida occu... ORPHA:2780
Van Maldergem Syndrome 2
Osteopenia, Short 4th metacarpal, Hip subluxation, Sacral dimple, Tracheomalacia, Wide anterior f... OMIM:615546
Fibrochondrogenesis 2
Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Hypoplastic ilia, Hypoplastic ischi... OMIM:614524
ERI1-related disease
Osteopenia, Limited elbow extension, Increased vertebral height, Clinodactyly of the 5th finger, ... OMIM:608739
Schneckenbecken Dysplasia
Stillbirth, Snail-like ilia, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Na... OMIM:269250
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Genu valgum, Flared femo... OMIM:184253
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Carpal bone hypoplasia, Cubitus valgus, Tapered phalanx of finger, Small epiphyses, Delayed epiph... OMIM:611717
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Platyspondyly, Flared metaphysis, Decreased skull ossification, Multiple prenatal fra... OMIM:616897
Dysosteosclerosis
Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fontanelle, Cla... OMIM:224300
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia... OMIM:108720
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sco... OMIM:250420
Desbuquois Dysplasia 2
Short long bone, Flat acetabular roof, Short metacarpal, Knee dislocation, Broad thumb, Joint hyp... OMIM:615777
Coffin-Siris Syndrome 6
Kyphoscoliosis, Retrognathia, Micrognathia, Brachydactyly, Wormian bones, Clinodactyly OMIM:617808
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Clubbing of fingers, Hypoplastic pubic bone, Miscarriage, Short long bone, Limitation ... ORPHA:1865
Autosomal Recessive Cutis Laxa Type 2A
Wide anterior fontanel, Delayed cranial suture closure, Congenital hip dislocation, Persistent op... ORPHA:357058
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Joint subluxation, Hyperextensibility of the finger joints, Wormian bones, Hyperlordosis, Scolios... OMIM:617821
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Short long bone, Limitation of joint mobility, Bowing of the long b... OMIM:224400
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Abnormal dental enamel morphology, Wide anterior fontanel, Delayed cranial sut... ORPHA:85199
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Kyphosis, Aplasia/hypoplasia of the humerus, Joint hypermobility,... ORPHA:198
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short long bone, Hyperlordosis, Metaphyseal irregularity, Joint hypermobility, Hip dislocation, C... OMIM:616007
Orofaciodigital Syndrome Ii
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Scoliosis, Po... OMIM:252100
Multiple Osteochondromas
Abnormal femur morphology, Limitation of knee mobility, Deformed forearm bones, Abnormal lower li... ORPHA:321
Greenberg Dysplasia
Retrognathia, Short long bone, Decreased skull ossification, Short metacarpal, Multiple prenatal ... OMIM:215140
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Flared metaphysis, Increased bone mineral density, Metaphyseal cupping, Synostosis... ORPHA:50945
Frank-Ter Haar Syndrome
Osteopenia, Kyphoscoliosis, Flared metaphysis, Prominent coccyx, Wide anterior fontanel, Delayed ... OMIM:249420
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p... OMIM:119600
Antley-Bixler Syndrome
Delayed cranial suture closure, Femoral bowing, Joint stiffness, Camptodactyly of finger, Arachno... ORPHA:83
Craniosynostosis 6
Spina bifida occulta, Bicoronal synostosis, Right unilambdoid synostosis, Delayed cranial suture ... OMIM:616602
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Death in in... OMIM:601559
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Mandibular prognathia, Short long bone, Limitation of ... OMIM:252600
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Large fontanelles, Delayed eruptio... OMIM:257850
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Hypoplastic ilia, D... ORPHA:93296
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Joint dislocation, Sco... ORPHA:1190
Premature Aging Syndrome, Penttinen Type
Retrognathia, Delayed eruption of teeth, Slender long bone, Delayed cranial suture closure, Osteo... OMIM:601812
Saethre-Chotzen Syndrome
Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal form of the vertebral bodies, Finge... ORPHA:794
Idiopathic Congenital Hypothyroidism
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Delayed cranial ... ORPHA:95717
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Flared metaphysis, Metaphyseal cupping, Scoliosis, Fe... OMIM:608940
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Sc... ORPHA:140
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cubitus valgus, Abnormal metatarsal morphology, Short long bone, Aplasia/Hypoplasia involving the... ORPHA:163654
Potocki-Shaffer Syndrome
Wormian bones, 2-5 finger cutaneous syndactyly, Brachydactyly OMIM:601224
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa... OMIM:304120
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Wide anterior fontanel, Craniosynostosis OMIM:601853
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Dislocated radial head, Broad thumb... OMIM:268310
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Delayed cranial suture closure, Short middle phalanx of the 5th f... OMIM:180860
Melnick-Needles Syndrome
Limited elbow extension, Kyphoscoliosis, Stillbirth, Genu valgum, Osteolytic defects of the phala... OMIM:309350
Apert Syndrome
Limited elbow movement, Broad thumb, Syndactyly, Craniosynostosis, Postaxial hand polydactyly, Br... OMIM:101200
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Short long bone, Bowing of the long bones, Anisospondyly, Micrognathia, Neonatal death OMIM:224410
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Short clavicles, Delayed cranial suture closure, Osteolytic defects of ... OMIM:608612
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Hypoplastic iliac wing, Short long bone, Broad long ... OMIM:200610
Thanatophoric Dysplasia, Type I
Platyspondyly, Short greater sciatic notch, Flared metaphysis, Short long bone, Femoral bowing, B... OMIM:187600
Sponastrime Dysplasia
Kyphoscoliosis, Short long bone, Biconcave vertebral bodies, Metaphyseal irregularity, Joint hype... ORPHA:93357
Menkes Disease
Death in childhood, Wormian bones, Metaphyseal spurs, Osteoporosis, Metaphyseal widening, Joint h... OMIM:309400
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi... ORPHA:2502
Cutis Laxa, Autosomal Recessive, Type Iiia
Large fontanelles, Wormian bones, Scoliosis, Congenital hip dislocation, Delayed skeletal maturat... OMIM:219150
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Hypop... OMIM:114290
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving bones of the lower limbs, Osteolys... ORPHA:371428
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Kyphoscoliosis, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the han... OMIM:210730
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Hyperlordosis, Wrist flexion contracture, Abnormally... ORPHA:800
Lenz-Majewski Hyperostotic Dwarfism
Diaphyseal undertubulation, Large fontanelles, Spina bifida occulta, Flared metaphysis, Hyperexte... OMIM:151050
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Progressive clavicular acroosteolysis, Dental malocclusion, Scoliosis, Os... OMIM:614008
Mucolipidosis Ii Alpha/Beta
Short long bone, Flat acetabular roof, Flared iliac wing, Bullet-shaped phalanges of the hand, Pa... OMIM:252500
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Delayed cranial suture closure, Micrognathia, Arachnodactyly ORPHA:1129
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Subperiosteal bone resorption, Delayed eruption of teeth, Bone pain, Enlargement of the ... ORPHA:289157
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Wormian bones, Hyperlordosis, Scoliosis, Kyphosis, Promine... ORPHA:2789
Lowry-Maclean Syndrome
Osteopenia, Retrognathia, Widely patent coronal suture, Talon cusp, Osteoporosis, Hypoplasia of t... ORPHA:2409
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, W... OMIM:617925
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Bicoronal synostosis, Tracheobronchomalacia, Scoliosis, Short long bone, Joint stiffness, Enamel ... OMIM:619184
Lessel-Kreienkamp Syndrome
Dental malocclusion, Clinodactyly of the 5th finger, Wide cranial sutures OMIM:619149
Dubowitz Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Sandal gap, Delayed eruption of teeth, Aplasia/Hyp... ORPHA:235
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Platyspondyly, Flared metaphysis, Scoliosis, Short long bone, Metap... ORPHA:85167
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short long ... OMIM:156400
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Short clavicles, Delayed cranial suture closure, Elbow flexion contracture, Osteolyti... OMIM:248370
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Kyphoscoliosis, Butterfly vertebrae, Short long bone, Vertebral segmentation defect, ... OMIM:611209
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Anterior tibial bowing, Dislocated radial head, Hypoplastic ... OMIM:605274
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Delayed cranial suture closure, Wormian bones, Joint hypermobility, Adducted thumb, O... OMIM:616603
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... ORPHA:2256
Osteogenesis Imperfecta, Type Xx
Kyphoscoliosis, Retrognathia, Vertebral compression fracture, Mandibular prognathia, Multiple pre... OMIM:618644
Hajdu-Cheney Syndrome
Osteopenia, Kyphoscoliosis, Genu valgum, Osteolytic defects of the phalanges of the hand, Patholo... OMIM:102500
Opsismodysplasia
Large fontanelles, Metaphyseal cupping, Hypoplastic pubic bone, Scoliosis, Short long bone, Flat ... OMIM:258480
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, Osteopetrosis, Large fontanelles, Abnormal metacarpal morphology,... ORPHA:2658
Xylt1-Cdg
Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Accelerated ... ORPHA:370930
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Large fontanelles, Wormian bones, Scoliosis, Bowing of the long bones, Congenital hip... OMIM:612940
Osteogenesis Imperfecta
Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Abnormal f... ORPHA:666
Marbach-Rustad Progeroid Syndrome
Femur fracture, Reduced bone mineral density, Short clavicles, Eruption failure, Micrognathia, Wo... OMIM:619322
Craniosynostosis 4
Retrognathia, Lambdoidal craniosynostosis, Bicoronal synostosis, Coronal craniosynostosis, Pansyn... OMIM:600775
Gapo Syndrome
Wide anterior fontanel, Eruption failure, Delayed cranial suture closure, Scoliosis, Delayed skel... OMIM:230740
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Kyphoscoliosis, Prominent fingertip pads, Kyphosis, Accelera... OMIM:602535
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Large fontanelles, Osteolytic defects of the phalanges of the hand, Arthritis, Arthro... OMIM:259100
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy... ORPHA:96334
Baraitser-Winter Cerebrofrontofacial Syndrome
Osteochondrosis, Retrognathia, Large fontanelles, Delayed cranial suture closure, Scoliosis, Prom... ORPHA:2995
Lateral Meningocele Syndrome
Wormian bones, Scoliosis, Kyphosis, Biconcave vertebral bodies, Micrognathia, Sclerosis of skull ... OMIM:130720
Moderate Hemophilia A
Arthropathy, Limitation of joint mobility, Synovitis, Hip contracture, Joint hemorrhage, Joint sw... ORPHA:169805
Hajdu-Cheney Syndrome
Partial absence of toe, Decreased skull ossification, Kyphosis, Biconcave vertebral bodies, Short... ORPHA:955
Parietal Foramina 1
Wormian bones OMIM:168500
Tenorio Syndrome
Osteopenia, Delayed cranial suture closure, Mandibular prognathia, Scoliosis, Joint hypermobility OMIM:616260
Mandibuloacral Dysplasia
Short clavicles, Delayed cranial suture closure, Osteolytic defects of the distal phalanges of th... ORPHA:2457
Cdags Syndrome
Large fontanelles, Lambdoidal craniosynostosis, Short clavicles, Delayed cranial suture closure, ... OMIM:603116
Silver-Russell Syndrome
Clinodactyly of the 5th finger, Sandal gap, Abnormal appendicular skeleton morphology, Delayed cr... ORPHA:813
Wrinkly Skin Syndrome
Osteopenia, Delayed eruption of teeth, Slender long bone, Wide anterior fontanel, Delayed cranial... OMIM:278250
Ogden Syndrome
Scoliosis, Delayed cranial suture closure, Broad hallux, Microretrognathia ORPHA:276432
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Delayed cranial suture closure, Scoliosis, Delayed skeletal maturation, Flexion contracture, Over... OMIM:619383
Familial Thyroid Dyshormonogenesis
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Delayed cranial ... ORPHA:95716
Ellis-Van Creveld Syndrome
Genu valgum, Delayed eruption of teeth, Hypoplastic iliac wing, Short long bone, Postaxial hand p... OMIM:225500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Unicoronal sy... OMIM:616300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Scoliosis, Short long bone, Fem... OMIM:613091
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Short femoral neck, Wormian bone... OMIM:617159
Hallermann-Streiff Syndrome
Decreased number of sternal ossification centers, Supernumerary tooth, Tracheomalacia, Slender lo... OMIM:234100
Hunter-Macdonald Syndrome
Large fontanelles, Cubitus valgus, Clinodactyly of the 5th finger, Delayed cranial suture closure... OMIM:611962
Alg9-Cdg
Narrow greater sciatic notch, Abnormal bone ossification, Flared metaphysis, Hitchhiker thumb, Wi... ORPHA:79328
White-Sutton Syndrome
Mandibular prognathia, Wormian bones, Broad thumb, Micrognathia, Brachydactyly, Joint hypermobili... OMIM:616364
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatarsal, Delayed cra... OMIM:101400
Robinow Syndrome, Autosomal Dominant 1
Retrognathia, Radial deviation of finger, Dislocated radial head, Short long bone, Broad thumb, D... OMIM:180700
Myhre Syndrome
Short finger, Radial deviation of finger, Enlarged vertebral pedicles, Hypoplastic iliac wing, Ma... OMIM:139210
De Barsy Syndrome
Osteopenia, Kyphoscoliosis, Delayed eruption of teeth, Congenital hip dislocation, Coxa vara, Del... ORPHA:2962
Lethal Congenital Contracture Syndrome 10
Stiff neck, Femoral bowing, Short long bone, Short neck, Micrognathia, Thoracic scoliosis, Adduct... OMIM:617022
Geleophysic Dysplasia 1
Osteopenia, Short long bone, Wrist flexion contracture, Short foot, Irregular capital femoral epi... OMIM:231050
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Osteopenia, Abnormal ulnar metaphysis morphology, Aplasia/hypoplasia involv... ORPHA:221016
Mandibuloacral Dysplasia With Type A Lipodystrophy
Large fontanelles, Osteolytic defects of the distal phalanges of the hand, Limitation of joint mo... ORPHA:90153
Curry-Jones Syndrome
Unicoronal synostosis, Bicoronal synostosis, Triphalangeal hallux, Broad thumb, Duplication of th... OMIM:601707
Schinzel-Giedion Syndrome
Kyphoscoliosis, Retrognathia, Stiff elbow, Delayed eruption of teeth, Hypoplastic pubic bone, Wid... ORPHA:798
Immunodeficiency 49
Wormian bones, Micrognathia, Natal tooth OMIM:617237
Autosomal Dominant Kenny-Caffey Syndrome
Calvarial osteosclerosis, Delayed cranial suture closure, Decreased skull ossification, Thin long... ORPHA:93325
Rubinstein-Taybi Syndrome 1
Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Pro... OMIM:180849
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Scoliosis, Short long bone, Brachydactyly OMIM:613819
Hennekam-Beemer Syndrome
Clinodactyly of the 5th finger, Delayed cranial suture closure, Scoliosis, Camptodactyly of finge... ORPHA:2135
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Femoral bowing, Short long bone, Metaphyseal spurs, Wide cranial sutur... OMIM:618188
Diamond-Blackfan Anemia 1
Retrognathia, Hypoplasia of the radius, Triphalangeal thumb, Hypoplastic coccygeal vertebrae, Spi... OMIM:105650
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Epiphyseal stippling, Short metacarpal, Short distal phalanx of finger... ORPHA:86822
Menkes Disease
Abnormal metaphysis morphology, Tarsal synostosis, Wormian bones, Bowing of the long bones, Osteo... ORPHA:565
Williams Syndrome
Abnormal form of the vertebral bodies, Hyperlordosis, Kyphosis, Joint stiffness, Delayed skeletal... ORPHA:904
D-Bifunctional Protein Deficiency
Osteopenia, Retrognathia, Large fontanelles, Hammertoe, Delayed cranial suture closure, Split han... OMIM:261515
46,Xy Sex Reversal 4
Distal symphalangism, Micrognathia OMIM:154230
Aymé-Gripp Syndrome
Rocker bottom foot, Large fontanelles, Clinodactyly of the 5th finger, Delayed cranial suture clo... ORPHA:1272
Schinzel-Giedion Midface Retraction Syndrome
Short 1st metacarpal, Wide distal femoral metaphysis, Wormian bones, Tibial bowing, Postaxial han... OMIM:269150
Trisomy 10P
Retrognathia, Thumb contracture, Hemivertebrae, Camptodactyly, Micrognathia, Short toe, Wide cran... ORPHA:171929
Cog1-Cdg
Osteopenia, Kyphoscoliosis, Butterfly vertebrae, Short long bone, Flat acetabular roof, Vertebral... ORPHA:263508
Alkaptonuria
Reduced bone mineral density, Intervertebral disk calcification, Joint dislocation, Arthritis, Sc... ORPHA:56
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Genu valgum, Osteolytic defects of the phalanges of the hand, Death in childhood, San... OMIM:619127
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Large fontanelles, Joint dislocation, Delayed cranial suture closure, Scoliosis, Arachnodactyly, ... OMIM:601776
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Short long bone, Femoral bowing, Acetabular spurs, Postaxial polydactyly, S... OMIM:615503
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Large fontanelles, Sacral dimple, Finger syndactyly, Delayed cranial suture closure, Broad thumb,... ORPHA:2211
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Camptodactyly of finger, Brachydactyly... ORPHA:306542
Hartsfield Syndrome
Craniosynostosis, Hypoplasia of the frontal bone, Ectrodactyly, Syndactyly OMIM:615465
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Fibular hypoplasia, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusi... ORPHA:444077
Yunis-Varon Syndrome
Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Decreased skull ossi... ORPHA:3472
Ogden Syndrome
Clinodactyly of the 5th finger, Sandal gap, Wide anterior fontanel, Delayed cranial suture closur... OMIM:300855
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed cranial suture closure, Delayed skeletal maturation, Delayed proximal femoral epiphyseal ... ORPHA:90674
Adult-Onset Still Disease
Joint swelling, Arthritis, Arthralgia/arthritis, Cartilage destruction ORPHA:829
Ayme-Gripp Syndrome
Delayed cranial suture closure, Mandibular prognathia, Camptodactyly, Brachydactyly, Radioulnar s... OMIM:601088
Wrinkly Skin Syndrome
Osteopenia, Kyphoscoliosis, Delayed eruption of teeth, Congenital hip dislocation, Coxa vara, Car... ORPHA:2834
Yunis-Varon Syndrome
Absent sternal ossification, Flat acetabular roof, Decreased skull ossification, Kyphosis, Absent... OMIM:216340
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Delayed cranial suture closure, Micrognathia, Hip dysplasia, Craniosynostosis, Tapered finger, Sm... OMIM:620005
Pyknoachondrogenesis
Short iliac bones, Abnormal iliac wing morphology, Short long bone, Aplastic pubic bone, Hypoplas... ORPHA:3003
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Delayed cranial suture closure, 2-3 toe syndactyly, Scoliosis, Accelerated skeletal maturation, T... OMIM:618653
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Short finger, Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, H... ORPHA:226307
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Supernumerary tooth, Aplasia of the epiglottis, Short clavicles, Short long bone, Postaxial hand ... OMIM:617088
Reactive Arthritis
Arthritis, Joint stiffness, Enthesitis, Joint swelling, Cartilage destruction, Osteomyelitis ORPHA:29207
Coffin-Siris Syndrome 12
Hip subluxation, Ridged cranial sutures, Delayed cranial suture closure, Scoliosis, Slender finge... OMIM:619325
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Delayed cranial suture closure OMIM:613038
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Abnormal cartilage morphology, Osteolysis ORPHA:2396
Autosomal Dominant Cutis Laxa
Osteopenia, Genu recurvatum, Delayed cranial suture closure, Wormian bones, Scoliosis, Abnormal c... ORPHA:90348
Medulloblastoma
Back pain, Delayed cranial suture closure ORPHA:616
Pallister-Killian Syndrome
Kyphoscoliosis, Hip dislocation, Sacral dimple, Postaxial hand polydactyly, Short palm, Short pha... OMIM:601803
1P36 Deletion Syndrome
Clinodactyly of the 5th finger, Delayed cranial suture closure, Scoliosis, Kyphosis, Joint stiffn... ORPHA:1606
Hypermobile Ehlers-Danlos Syndrome
Abnormality of the wrist, Joint dislocation, Wormian bones, Scoliosis, Limitation of joint mobili... ORPHA:285

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 Wnt9a

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 Wnt9a.

No publications found that use IMPC mice or data for Wnt9a.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Wnt9atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Wnt9atm199279(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Wnt9atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

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

Subscribe to newsletter