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Gene: Wnt9a MGI:2446084

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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 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
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... OMIM:113000
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Legg-Calvé-Perthes Disease
Avascular necrosis, Cartilage destruction, Joint dislocation, Delayed skeletal maturation ORPHA:2380
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Hip contracture, Kyphoscoliosis, Advanced ossification of carpal b... OMIM:618363
Dyssegmental Dysplasia With Glaucoma
Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Flared metaphysis, Plat... OMIM:601561
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, D... OMIM:610967
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphoscoliosis, Metaphyseal dysplasi... ORPHA:93316
Multiple Epiphyseal Dysplasia Type 1
Joint stiffness, Delayed epiphyseal ossification, Coxa vara, Short long bone, Finger joint hyperm... ORPHA:93308
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Lumbar hyperlordosis, Increased intervertebral space, Bifid hu... OMIM:256050
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged metaphyses, Irregular ... OMIM:618728
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Abnormal bone ossification, Abnormal femoral neck/head morphology, Increa... ORPHA:163649
Osteogenesis Imperfecta, Type Iii
Kyphosis, Wide anterior fontanel, Recurrent fractures, Tibial bowing, Dentinogenesis imperfecta, ... OMIM:259420
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... ORPHA:337
Hypochondroplasia
Lumbar hyperlordosis, Flared metaphysis, Brachydactyly, Genu varum, Limited elbow extension, Shor... OMIM:146000
Diastrophic Dysplasia
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Short long bone, Costal cartilage calcific... OMIM:222600
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, Wide anterior fontanel, Increased bone mineral density, Osteopenia, Mic... ORPHA:85184
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Micrognathia, Prominent metopic ridge, Broad phalanx, Broad metatarsal OMIM:275595
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed eruption of teeth, Sma... OMIM:184260
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Cervi... ORPHA:93346
Alpha-Mannosidosis
Avascular necrosis, Kyphosis, Dental malocclusion, Short neck, Scoliosis, Synostosis of joints, A... ORPHA:61
Craniometadiaphyseal Dysplasia
Wide anterior fontanel, Sclerosis of skull base, Osteopenia, Flared metaphysis, Scoliosis, Wormia... OMIM:269300
Osteogenesis Imperfecta, Type Iv
Kyphosis, Recurrent fractures, Otosclerosis, Dentinogenesis imperfecta, Reduced bone mineral dens... OMIM:166220
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Platyspondyly, Shortening of all metacarpals, Wormian bones, Shortening o... OMIM:601356
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Brachydactyly, Wormian bones, Osteoporosis, Joint hyperflexibility ORPHA:2787
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of finger, Large iliac wing, Delayed cranial suture closure, Cone-shaped epiphysis, A... ORPHA:2511
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Dentinogenesis imperfecta, Decreased calvarial ossification, Platy... OMIM:259440
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... ORPHA:970
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Wormian bones, Slen... OMIM:619795
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Hypoplastic vertebral bodies, Abnormal cartilage matrix, Hypoplastic ilia... ORPHA:2347
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Mesomelia-Synostoses Syndrome
Joint stiffness, Abnormality of femur morphology, Clinodactyly of the 5th finger, Micrognathia, S... ORPHA:2496
Hao-Fountain Syndrome
Delayed cranial suture closure, Clinodactyly of the 5th finger, Hallux valgus, Large fontanelles OMIM:616863
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Delayed cranial suture closure, Micrognathia, Short neck, Mandibular aplasia, Large... ORPHA:1832
Osteogenesis Imperfecta, Type Viii
Kyphosis, Wide anterior fontanel, Recurrent fractures, Tibial bowing, Radial bowing, Short metaca... OMIM:610915
Achondroplasia
Spinal canal stenosis, Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Bowing of the legs... ORPHA:15
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Beaking of vertebral bodies, Epiphyseal dysplasia, Lumbar hyperlordosis, Short m... OMIM:215150
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Finger syndactyly, Camptodactyly of finger, Syno... ORPHA:3250
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Grant Syndrome
Joint dislocation, Abnormality of the glenoid fossa, Micrognathia, Wormian bones, Decreased skull... ORPHA:2097
Osteogenesis Imperfecta, Type Xii
Micrognathia, Scoliosis, Wormian bones, Delayed eruption of teeth, Osteoporosis, Generalized oste... OMIM:613849
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Fibrochondrogenesis 1
Platyspondyly, Short neck, Dumbbell-shaped long bone, Short long bone, Widely patent coronal sutu... OMIM:228520
Premature Aging Syndrome, Penttinen Type
Osteopenia, Delayed cranial suture closure, Micrognathia, Scoliosis, Wormian bones, Brachydactyly... OMIM:601812
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Wormian bones, Upper limb undergrowth, Pathologic fr... ORPHA:166277
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Platyspondyly, Short neck, Dumbbell-shaped long b... ORPHA:485
Kniest Dysplasia
Enlarged joints, Hip contracture, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Trac... OMIM:156550
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures, Wormian bones ORPHA:2773
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bones, Limi... OMIM:604922
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Abnormal cartilage matrix, Tracheomalacia, Neonatal death, Multiple joint disl... OMIM:245650
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, C1-C2 subluxation, Thin metacarpal cortices, Hypoplasia of... OMIM:259600
Brachydactyly, Mononen Type
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... OMIM:301940
Familial Calcium Pyrophosphate Deposition
Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Calcification of... ORPHA:1416
Multiple Synostoses Syndrome 2
Carpal synostosis, Brachydactyly, Finger symphalangism, Proximal symphalangism, Tarsal synostosis... OMIM:610017
Chromosome 16Q22 Deletion Syndrome
Wide anterior fontanel, Micrognathia, Prominent metopic ridge, Short neck, Wormian bones, Broad h... OMIM:614541
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Platyspondyly, Short neck, Upper limb undergrowth, Genu valgum, Kn... ORPHA:94068
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Finger syndactyly, Hypoplasia of the radius, Scoliosis, Abnorm... ORPHA:3258
Ollier Disease
Bone pain, Joint stiffness, Platyspondyly, Osteolysis, Abnormal cartilage morphology, Abnormal me... ORPHA:296
Osteogenesis Imperfecta, Type I
Recurrent fractures, Otosclerosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Oste... OMIM:166200
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Hypoplasia of the maxilla, Part... ORPHA:363417
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders, Wormian bones OMIM:138930
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Platyspondyly, Congenital hip dislocation, Ru... OMIM:304120
Bruck Syndrome
Recurrent fractures, Kyphosis, Joint stiffness, Platyspondyly, Scoliosis, Osteoporosis, Wormian b... ORPHA:2771
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Recurrent fractures, ... OMIM:231070
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Hypoplasia of the radius, Delayed cranial suture closure, Broad hallux phalanx, ... ORPHA:2249
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Micrognathia, Scoliosis, Abnormal form of the vertebral bodies, Wo... ORPHA:2050
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Platyspondyly, Short neck, Abnormality of the ankles, Hypoplasia of the capit... ORPHA:239
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... OMIM:102370
Stuve-Wiedemann Syndrome 2
Scoliosis, Neonatal death, Death in adolescence, Camptodactyly, Bowing of the long bones, Stillbi... OMIM:619751
Pycnodysostosis
Spondylolisthesis, Increased bone mineral density, Persistence of primary teeth, Spondylolysis, M... OMIM:265800
Dysostosis, Stanescu Type
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Short neck, Sco... ORPHA:1798
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Platyspondyly, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Wormian bones, Joi... OMIM:617952
Cleidocranial Dysplasia
Down-sloping shoulders, Delayed eruption of teeth, Tapered finger, Carious teeth, Genu valgum, Ab... ORPHA:1452
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Osteogenesis Imperfecta, Type Vii
Recurrent fractures, Wide anterior fontanel, Coxa vara, Bowing of the legs, Femoral retroversion,... OMIM:610682
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... ORPHA:457395
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Delayed skeletal maturation, Coxa vara, Flexion contracture, Flared iliac wing, Metaphyseal widen... OMIM:300232
Pycnodysostosis
Carious teeth, Hypoplasia of the maxilla, Spondylolisthesis, Increased bone mineral density, Micr... ORPHA:763
Lethal Recessive Chondrodysplasia
Accelerated skeletal maturation, Micrognathia, Generalized osteosclerosis, Flared elbow metaphyse... ORPHA:1423
Microphthalmia With Limb Anomalies
Sandal gap, Hypoplasia of the maxilla, Bowing of the long bones, Short long bone, Elbow dislocati... ORPHA:1106
Acrocephalopolydactyly
Genu recurvatum, Short neck, Brachydactyly, Short long bone, Premature closure of fontanelles ORPHA:221054
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Microretrognathia, Osteopenia, Decreased calvarial ossification, Platyspondy... OMIM:616229
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Arachnodactyly, Platyspon... OMIM:614856
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Death in infancy, Vertebral fusion, Short long bone, Sacral dimple OMIM:618845
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Accelerated skeletal maturation, Craniosynostosis, Camptodactyly o... OMIM:175700
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Neonatal death, Anisospondyly, Bowing of the long bones, Short long bone OMIM:224410
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Flexion contracture, Narrow greater sciatic notch, Retrognathia, Metaphys... OMIM:263210
Bruck Syndrome 2
Flexion contracture, Osteopenia, Femoral bowing, Platyspondyly, Wormian bones, Elbow flexion cont... OMIM:609220
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 3rd metacarpal, Short 2nd metacarpal, Short 4th metacarpal, Coronal cleft vert... OMIM:118651
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Coxa vara, Bowing of the legs, Platyspondyly, Scoliosis, Osteoporosis, Wormi... OMIM:619131
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Wormian bones, Thoracic kyphosis, Broad thumb, Short 4th metacarpa... OMIM:619638
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Decreased calvarial ossification, Wormian bones, Bowing of limbs due to multiple fractures, Still... OMIM:259410
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Platyspondyly, Short neck, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fontanelle, Broad... OMIM:311300
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, S... ORPHA:93324
Van Maldergem Syndrome 2
Dental malocclusion, Wide anterior fontanel, Short clavicles, Tracheomalacia, Short fourth metata... OMIM:615546
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Delayed skeletal ma... OMIM:210720
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... OMIM:309620
Van Maldergem Syndrome 1
Dental malocclusion, Wide anterior fontanel, Short clavicles, Tracheomalacia, Short fourth metata... OMIM:601390
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, Camptodactyly of finger, Brachydactyly, Delayed eruption of teeth, Wormian bones ORPHA:2863
Cole-Carpenter Syndrome 2
Kyphosis, Dentinogenesis imperfecta, Microretrognathia, Coronal craniosynostosis, Osteopenia, Pla... OMIM:616294
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Increased intervertebral space, Metaphyseal widening, Death in child... OMIM:618961
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Dysplastic sacrum, Iliac crest serration, Short neck, Wormian bones, Hypopla... OMIM:613320
Laron Syndrome
Abnormal joint morphology, Delayed skeletal maturation, Short long bone OMIM:262500
Patterson Pseudoleprechaunism Syndrome
Joint swelling, Kyphoscoliosis, Cervical platyspondyly, Ovoid thoracolumbar vertebrae, Irregular ... OMIM:169170
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed skeletal maturation, Delayed eruption of teeth, Congenital hip dislocation, Wormian bones OMIM:614450
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Osteopenia, Metaphyseal widening, Wormian bones, Osteoporo... ORPHA:2788
Bartsocas-Papas Syndrome
Absent thumb, Micrognathia, Popliteal pterygium, Synostosis of joints, Toe syndactyly, Finger syn... ORPHA:1234
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, Increased bone mineral density, Osteopetrosis, Delayed cranial suture closure, ... ORPHA:2780
Dysosteosclerosis
Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Sclerotic scapulae, Delayed ... OMIM:224300
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Delayed eruption of teeth, Partial fu... OMIM:305620
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Decreased cranial base ossification, Disc-like vertebral bodies, Hypoplastic... OMIM:151210
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Platyspondyly, Wormian bones, Absent ossification of calvaria... OMIM:166210
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Ovoid vertebral bodies, Short long bone... OMIM:618019
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, Clubbing, Multinucleated giant chondrocytes in epiphy... OMIM:108720
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Narrow vertebral interpedicular ... OMIM:269250
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Joint subluxation, Hyperextensibility of the finger joints, Scoliosis, Wormian bones, H... OMIM:617821
Desbuquois Dysplasia 2
Cutaneous syndactyly, Platyspondyly, Short neck, Monkey wrench femoral neck, Radial head subluxat... OMIM:615777
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Kyphoscoliosis, Lumbar hyperlordosis, Hypoplasia of proximal radius, Metaphyseal dyspl... OMIM:184253
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short neck, Duplication of the dista... OMIM:268310
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Wide anterior fontanel, Short toe, Recurrent mandibular subluxations, Osteopenia, Micrognathia, S... OMIM:225410
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Short toe, Anterior scalloping of vertebral bodies, Flexion cont... OMIM:611717
Coffin-Siris Syndrome 6
Kyphoscoliosis, Retrognathia, Micrognathia, Brachydactyly, Wormian bones, Clinodactyly OMIM:617808
Mohr Syndrome
Metaphyseal irregularity, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Agenes... OMIM:252100
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Short femur, Adducted thumb, Osteopenia, Flared ... OMIM:616897
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Wide anterior fontanel, Large posterior fontanelle, Coronal craniosynostosis, Delayed c... ORPHA:85199
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Widely patent fontanelles and sutures, Meta... OMIM:264700
Multiple Osteochondromas
Abnormality of femur morphology, Limitation of knee mobility, Abnormality of fibula morphology, G... ORPHA:321
Occipital Horn Syndrome
Osteopenia, Down-sloping shoulders, Platyspondyly, Abnormality of the pubic bone, Humerus varus, ... ORPHA:198
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal irregularity, Broad phalanx, Lumbar hyperlordosis, Metaphyseal dysplasia, Metaphyseal... OMIM:250420
Blomstrand Lethal Chondrodysplasia
Metaphyseal cupping, Increased bone mineral density, Accelerated skeletal maturation, Micrognathi... ORPHA:50945
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Congenital hip dislocation, Tapered finger, Genu valgum, Mandibular prognathia, Short... OMIM:616007
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Miscarriage, Flexion contracture, Short long bone, Hypoplastic ilia, Microgna... ORPHA:1865
Frank-Ter Haar Syndrome
Kyphosis, Wide anterior fontanel, Kyphoscoliosis, Dental malocclusion, Short long bone, Osteopeni... OMIM:249420
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Platyspondyly, Short neck, Genu valgum, Hip sub... OMIM:271640
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Shallow... OMIM:252600
Cutis Laxa, Autosomal Recessive, Type Iiia
Adducted thumb, Congenital hip dislocation, Wide cranial sutures, Scoliosis, Wormian bones, Joint... OMIM:219150
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Platyspondyly, Hypoplasia of the maxilla... OMIM:215140
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Widely patent fontanelles and sutures, Meta... OMIM:277440
Antley-Bixler Syndrome
Recurrent fractures, Joint stiffness, Elbow ankylosis, Craniosynostosis, Arachnodactyly, Delayed ... ORPHA:83
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Joint contracture of the hand, Short long bone, Narrow gre... OMIM:224400
Cleidocranial Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Spondylolisthesis, Increased bone mineral den... OMIM:119600
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Recurrent fractures, Small abnormally formed scapul... ORPHA:140
Autosomal Recessive Cutis Laxa Type 2A
Wide anterior fontanel, Delayed cranial suture closure, Congenital hip dislocation, Increased sus... ORPHA:357058
Stuve-Wiedemann Syndrome 1
Enlarged joints, Femoral bowing, Short neck, Ulnar deviation of finger, Carious teeth, Contractur... OMIM:601559
Achondrogenesis Type 2
Abnormal bone ossification, Unossified sacrum, Delayed proximal femoral epiphyseal ossification, ... ORPHA:93296
Saethre-Chotzen Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Proximal radio-ulnar synostosis, Delayed crania... ORPHA:794
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Irregular, rachiti... ORPHA:289157
Idiopathic Congenital Hypothyroidism
Delayed cranial suture closure, Abnormal epiphysis morphology, Large posterior fontanelle, Delaye... ORPHA:95717
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Brachydactyly, Wormian bones OMIM:601224
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Limited pronation/supination of forearm, Abnormal metatarsal morphology, Short neck, Brachydactyl... ORPHA:163654
Atelosteogenesis Type I
Joint dislocation, Abnormal ossification involving the femoral head and neck, Short femur, Microg... ORPHA:1190
Melnick-Needles Syndrome
Short distal phalanx of finger, Obtuse angle of mandible, Kyphoscoliosis, Cone-shaped epiphyses o... OMIM:309350
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Flexion contracture, Delayed cranial suture closure, Micrognathia, Acroosteolysi... OMIM:608612
Gomez-Lopez-Hernandez Syndrome
Wide anterior fontanel, Wormian bones, Craniosynostosis OMIM:601853
Sponastrime Dysplasia
Platyspondyly, Biconcave vertebral bodies, Hypoplasia of the nasal bone, Genu valgum, Knee pain, ... ORPHA:93357
Menkes Disease
Metaphyseal spurs, Metaphyseal widening, Death in childhood, Wormian bones, Osteoporosis, Joint l... OMIM:309400
Apert Syndrome
Craniosynostosis, Cutaneous syndactyly, Delayed eruption of teeth, Sagittal craniosynostosis, Bro... OMIM:101200
Juvenile Idiopathic Arthritis
Joint stiffness, Joint swelling, Joint dislocation, Cartilage destruction, Arthritis, Abnormal jo... ORPHA:92
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Platyspondyly, C1-C2 subluxation, Hip subluxation, Short long bone, Epiphyseal sti... OMIM:271665
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Aplasia/Hypoplasia of metatarsal bones,... ORPHA:2502
Craniosynostosis 6
Delayed cranial suture closure, Scoliosis, Spina bifida occulta, Craniosynostosis OMIM:616602
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, Carious teeth, Bowing o... OMIM:114290
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Dislocation of the femoral head, Hip contracture, Kyphoscoliosis, Cone-shaped epiphyses of the ph... OMIM:210730
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Small abnormally formed scapulae, Femoral bowing, Hypoplastic ilia, Pla... OMIM:187600
Sc phocomelia syndrome
Aplasia of the ulna, Hip contracture, Micrognathia, Wormian bones, Short thumb, Phocomelia, Clino... OMIM:269000
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Delayed cranial suture closure, Micrognathia, Syndactyly, Short d... OMIM:180860
Hajdu-Cheney Syndrome
Dislocated radial head, Kyphoscoliosis, Crowded carpal bones, Dental malocclusion, Cervical insta... OMIM:102500
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Short neck, Platyspondyly, Genu valgum, Abnormal epiphysis morphol... ORPHA:800
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Osteopenia, Osteolysis involving bones of the lower limbs, Abnormal form of th... ORPHA:371428
Mucolipidosis Ii Alpha/Beta
Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Varus deformity of humeral nec... OMIM:252500
Lowry-Maclean Syndrome
Widely patent coronal suture, Craniosynostosis, Retrognathia, Osteopenia, Micrognathia, Osteoporo... ORPHA:2409
Gapo Syndrome
Eruption failure, Wide anterior fontanel, Delayed cranial suture closure, Micrognathia, Scoliosis... OMIM:230740
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Joint stiffness, Short clavicles, Flexion contracture, Osteopenia... OMIM:248370
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly... OMIM:617925
Cutis Laxa, Autosomal Dominant 3
Adducted thumb, Osteopenia, Delayed cranial suture closure, Wormian bones, Hip dislocation OMIM:616603
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Joint stiffness, Scoliosis, Brachydactyly, Tracheobronchomalacia, Enamel hypoplasia, Bicoronal sy... OMIM:619184
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Micrognathia, Short neck, Biconcave vertebral bodies, Scoliosi... OMIM:130720
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Osteopenia, Micrognathia, P... OMIM:156400
Lateral Meningocele Syndrome
Kyphosis, Micrognathia, Prominent metopic ridge, Short neck, Scoliosis, Abnormal form of the vert... ORPHA:2789
Achondrogenesis, Type Ii
Short tubular bones of the hand, Absent vertebral body mineralization, Hypoplastic iliac wing, Br... OMIM:200610
Nestor-Guillermo Progeria Syndrome
Joint stiffness, Dental malocclusion, Microretrognathia, Flexion contracture, Micrognathia, Scoli... OMIM:614008
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Delayed cranial suture closure, Micrognathia ORPHA:1129
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the proximal phalanges of the hand, Hy... ORPHA:2256
Dubowitz Syndrome
Wide anterior fontanel, Clinodactyly of the 5th finger, Abnormality of thumb phalanx, Craniosynos... ORPHA:235
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Lessel-Kreienkamp Syndrome
Dental malocclusion, Clinodactyly of the 5th finger, Wide cranial sutures OMIM:619149
Meier-Gorlin Syndrome 5
Micrognathia, Prominent metopic ridge, Hypoplasia of the capital femoral epiphysis, Irregular fem... OMIM:613805
Osteogenesis Imperfecta
Abnormality of femur morphology, Osteopenia, Femoral bowing, Biconcave vertebral bodies, Delayed ... ORPHA:666
Xylt1-Cdg
Short clavicles, Joint dislocation, Accelerated skeletal maturation, Flared metaphysis, Short fem... ORPHA:370930
Lenz-Majewski Hyperostotic Dwarfism
Proximal symphalangism of hands, Hyperextensibility of the finger joints, Delayed cranial suture ... OMIM:151050
Otofacioosseous-Gonadal Syndrome
Carpal synostosis, Short hallux, Wormian bones, Genu valgum, Delayed skeletal maturation OMIM:601976
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Kyphosis, Delayed skeletal maturation, Abnormality of finger, ... ORPHA:2658
Craniolenticulosutural Dysplasia
Wide anterior fontanel, Osteopenia, High iliac wing, Scoliosis, Delayed eruption of teeth, Cariou... OMIM:607812
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Osteoporosis, Wormian bones, Arthritis, Osteolytic defects of the phalanges of the ha... OMIM:259100
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Congenital hip dislocation, Scoliosis, Wormian bones, Bowing of the long bones, Joint... OMIM:612940
Opsismodysplasia
Short palm, Hypoplastic vertebral bodies, Metaphyseal cupping, Short metacarpal, Short neck, Scol... OMIM:258480
Osteogenesis Imperfecta, Type Xx
Kyphoscoliosis, Retrognathia, Wormian bones, Vertebral compression fracture, Mandibular prognathi... OMIM:618644
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Short clavicles, Bowing of the legs, Coronal craniosynostosis, ... ORPHA:313855
Immunodeficiency 49
Micrognathia, Wormian bones, Natal tooth OMIM:617237
Six2-Related Frontonasal Dysplasia
Wide anterior fontanel, Metopic synostosis, Premature posterior fontanelle closure ORPHA:488437
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Miscarriage, Absent glenoid fossa, Hemivertebrae, Clinodactyly of t... ORPHA:96334
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Bowing of the long bones, Short long bone, Acetabular spurs, Metaphyseal s... ORPHA:1505
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Short neck, Short long bone, M... OMIM:250220
Craniosynostosis 4
Pansynostosis, Coronal craniosynostosis, Retrognathia, Sagittal craniosynostosis, Metopic synosto... OMIM:600775
Marbach-Rustad Progeroid Syndrome
Short clavicles, Eruption failure, Reduced bone mineral density, Micrognathia, Wormian bones, Del... OMIM:619322
Parietal Foramina 1
Wormian bones OMIM:168500
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Biconcave vertebral bodies, Osteolysis, Bowing of the long bones, Patella... ORPHA:955
Cdags Syndrome
Kyphosis, Short clavicles, Coronal craniosynostosis, Delayed cranial suture closure, Sagittal cra... OMIM:603116
Mandibuloacral Dysplasia
Short clavicles, Delayed cranial suture closure, Micrognathia, Acroosteolysis of distal phalanges... ORPHA:2457
Marshall-Smith Syndrome
Short sternum, Slender finger, Prominent fingertip pads, Craniosynostosis, Distal widening of met... OMIM:602535
Baraitser-Winter Cerebrofrontofacial Syndrome
Joint stiffness, Retrognathia, Delayed cranial suture closure, Prominent metopic ridge, Short nec... ORPHA:2995
Wrinkly Skin Syndrome
Kyphosis, Wide anterior fontanel, Coxa vara, Microretrognathia, Osteopenia, Delayed cranial sutur... OMIM:278250
Camptodactyly Syndrome, Guadalajara, Type I
Horizontal sacrum, Delayed skeletal maturation, Sacral dimple, Abnormality of dental eruption, Ha... OMIM:211910
Silver-Russell Syndrome
Clinodactyly of the 5th finger, Delayed cranial suture closure, Micrognathia, Scoliosis, Abnormal... ORPHA:813
Familial Thyroid Dyshormonogenesis
Delayed cranial suture closure, Abnormal epiphysis morphology, Large posterior fontanelle, Delaye... ORPHA:95716
Ogden Syndrome
Broad hallux, Delayed cranial suture closure, Scoliosis, Microretrognathia ORPHA:276432
Moderate Hemophilia A
Joint hemorrhage, Hip contracture, Joint swelling, Limitation of joint mobility, Cartilage destru... ORPHA:169805
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Overlapping toe, Flexion contracture, Delayed cranial suture closure, Overlapping fingers, Scolio... OMIM:619383
Ellis-Van Creveld Syndrome
Acetabular spurs, Cone-shaped epiphyses of phalanges 2 to 5, Delayed eruption of teeth, Postaxial... OMIM:225500
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Wormian bones, Tapered finger, Short femoral neck, Fused cervical vertebrae, Fla... OMIM:617159
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Joint contracture of th... OMIM:611962
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Metaphyseal spurs, Postaxial polydactyly, Preaxial polydactyly, F... OMIM:613091
Tenorio Syndrome
Osteopenia, Mandibular prognathia, Scoliosis, Delayed cranial suture closure OMIM:616260
Alg9-Cdg
Wide anterior fontanel, Abnormal bone ossification, Microretrognathia, Narrow greater sciatic not... ORPHA:79328
Hallermann-Streiff Syndrome
Dental malocclusion, Supernumerary tooth, Tracheomalacia, Metaphyseal widening, Micrognathia, Sco... OMIM:234100
Alkaptonuria
Intervertebral disk calcification, Joint stiffness, Joint swelling, Joint dislocation, Reduced bo... ORPHA:56
White-Sutton Syndrome
Micrognathia, Short neck, Brachydactyly, Wormian bones, Broad thumb, Joint laxity, Mandibular pro... OMIM:616364
Robinow Syndrome, Autosomal Dominant 1
Short neck, Duplication of the distal phalanx of hand, Delayed eruption of teeth, Limited elbow e... OMIM:180700
Restrictive Dermopathy 1
Wide anterior fontanel, Kyphoscoliosis, Short clavicles, Temporomandibular joint ankylosis, Flexi... OMIM:275210
Saethre-Chotzen Syndrome
Clinodactyly of the 5th finger, Absent first metatarsal, Partial duplication of the distal phalan... OMIM:101400
Myhre Syndrome
Joint stiffness, Overlapping toe, Short toe, 2-3 toe syndactyly, Short long bone, Cone-shaped epi... OMIM:139210
Rubinstein-Taybi Syndrome 1
Prominent fingertip pads, Broad hallux, Hypoplasia of the maxilla, Delayed skeletal maturation, P... OMIM:180849
De Barsy Syndrome
Coxa vara, Kyphoscoliosis, Generalized joint laxity, Adducted thumb, Osteopenia, Congenital hip d... ORPHA:2962
Schinzel-Giedion Syndrome
Short distal phalanx of finger, Overlapping toe, Wide anterior fontanel, Kyphoscoliosis, Sclerosi... ORPHA:798
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Flexion contracture, Acroosteolysis of distal phalanges (feet), W... ORPHA:90153
Diamond-Blackfan Anemia 1
Hypoplastic coccygeal vertebrae, Absent thumb, Hypoplasia of the radius, Delayed cranial suture c... OMIM:105650
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Persistence of primary teeth, Stenosis of the medulla... ORPHA:93325
Hennekam-Beemer Syndrome
Clinodactyly of the 5th finger, Delayed cranial suture closure, Camptodactyly of finger, Microgna... ORPHA:2135
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Abnormal cartilage matrix, Arthrogryposis multiplex congenita, Sh... ORPHA:86822
Hartsfield Syndrome
Ectrodactyly, Syndactyly, Hypoplasia of the frontal bone, Craniosynostosis OMIM:615465
Menkes Disease
Recurrent fractures, Osteomyelitis, Chondrocalcinosis, Micrognathia, Osteoporosis, Wormian bones,... ORPHA:565
Williams Syndrome
Osteopenia, Down-sloping shoulders, Abnormality of the ankles, Death in early adulthood, Radiouln... ORPHA:904
Aymé-Gripp Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Delayed cranial suture closure, Prominent metop... ORPHA:1272
Adult-Onset Still Disease
Joint swelling, Cartilage destruction, Arthritis ORPHA:829
D-Bifunctional Protein Deficiency
Retrognathia, Osteopenia, Delayed cranial suture closure, Micrognathia, Hammertoe, Large fontanel... OMIM:261515
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Sclerosis of skull base, Widely patent fontanelles and sutures, S... OMIM:269150
Geleophysic Dysplasia 1
Joint stiffness, Coxa valga, Joint contracture of the hand, Osteopenia, Camptodactyly of finger, ... OMIM:231050
46,Xy Sex Reversal 4
Micrognathia, Distal symphalangism OMIM:154230
Mandibuloacral Dysplasia Progeroid Syndrome
Decreased fibular diameter, Joint stiffness, Flexion contracture, Osteopenia, Death in childhood,... OMIM:619127
Trisomy 10P
Flexion contracture of thumb, Short toe, Retrognathia, Hemivertebrae, Micrognathia, Wide cranial ... ORPHA:171929
Cog1-Cdg
Vertebral segmentation defect, Kyphoscoliosis, Butterfly vertebrae, Short long bone, Osteopenia, ... ORPHA:263508
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Brachydactyly, Finger clinodactyly, Hypoplasia of the maxilla, Hypoplasi... ORPHA:306542
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Microretrognathia, Generalized joint laxity, Arachnodactyly, Delayed cranial s... OMIM:601776
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Acetabular spurs, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Brachydactyly, Syn... OMIM:615503
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Delayed cranial suture closure, Broad hallux phalanx, Broad thumb, Sacral dimp... ORPHA:2211
Yunis-Varon Syndrome
Slender long bones with narrow diaphyses, Absent thumb, Tapered finger, Short proximal phalanx of... ORPHA:3472
Ogden Syndrome
Wide anterior fontanel, Clinodactyly of the 5th finger, Microretrognathia, Large posterior fontan... OMIM:300855
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Tracheomalacia, Small hand, Micro... ORPHA:444077
Isolated Thyroid-Stimulating Hormone Deficiency
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Delayed cranial sut... ORPHA:90674
Wrinkly Skin Syndrome
Coxa vara, Kyphoscoliosis, Slender long bones with narrow diaphyses, Generalized joint laxity, Os... ORPHA:2834
Ayme-Gripp Syndrome
Delayed cranial suture closure, Brachydactyly, Tapered finger, Camptodactyly, Radioulnar synostos... OMIM:601088
Reactive Arthritis
Joint stiffness, Joint swelling, Osteomyelitis, Cartilage destruction, Arthritis, Enthesitis ORPHA:29207
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Craniosynostosis, Small hand, Delayed cranial suture closure, Micrognathia, Tapered finger, Hip d... OMIM:620005
Yunis-Varon Syndrome
Absent thumb, Decreased calvarial ossification, Congenital hip dislocation, Cutaneous syndactyly,... OMIM:216340
Pyknoachondrogenesis
Sclerosis of skull base, Abnormal iliac wing morphology, Unossified sacrum, Poorly ossified verte... ORPHA:3003
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short clavicles, Supernumerary tooth, Postaxial polydactyly, Cone-shaped epiphysis, Brachydactyly... OMIM:617088
Coffin-Siris Syndrome 12
Slender finger, Delayed cranial suture closure, Cutaneous syndactyly, Micrognathia, Scoliosis, Ra... OMIM:619325
Autosomal Dominant Cutis Laxa
Genu recurvatum, Adducted thumb, Osteopenia, Delayed cranial suture closure, Scoliosis, Wormian b... ORPHA:90348
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, 2-3 toe syndactyly, Accelerated skeletal maturation, Delayed cranial suture clos... OMIM:618653
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Delayed proximal femoral epiphyseal ossification, Large posterior fontanelle, Delayed cranial sut... ORPHA:226307
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Osteolysis, Abnormal cartilage morphology ORPHA:2396
Isolated Exencephaly
Hypoplasia of the frontal bone ORPHA:563612
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Delayed cranial suture closure OMIM:613038
Medulloblastoma
Delayed cranial suture closure, Back pain ORPHA:616
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Osteoarthritis, Scoliosis, Joint hyperflexibility, Wormian bones, Abnormality ... ORPHA:285
1P36 Deletion Syndrome
Spinal canal stenosis, Kyphosis, Joint stiffness, Clinodactyly of the 5th finger, Delayed cranial... ORPHA:1606
Pallister-Killian Syndrome
Short neck, Congenital hip dislocation, Delayed eruption of teeth, Sacral dimple, Clinodactyly of... OMIM:601803

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.

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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

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