banner
Genes Phenotypes Help, News, Blog

Gene: Wnt9a MGI:2446084

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... ORPHA:337
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Legg-Calvé-Perthes Disease
Joint dislocation, Delayed skeletal maturation, Avascular necrosis, Cartilage destruction ORPHA:2380
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... OMIM:610967
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Atelosteogenesis, Type Ii
Death in infancy, Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micrognathia, Short neck, ... OMIM:256050
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplat... OMIM:618363
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Micrognathia, Wide anterior f... ORPHA:163649
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... OMIM:177170
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... OMIM:259420
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Radia... OMIM:614078
Odontochondrodysplasia 1
Genu recurvatum, Metaphyseal widening, Short phalanx of finger, Genu varum, Death in infancy, Sho... OMIM:184260
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Coxa valga, Short tubular b... ORPHA:85184
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... ORPHA:93346
Alpha-Mannosidosis
Mandibular prognathia, Bowing of the long bones, Short neck, Kyphosis, Delayed skeletal maturatio... ORPHA:61
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat... OMIM:620269
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... OMIM:601356
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Coxa valga, Carious teeth, Wide... OMIM:269300
Hao-Fountain Syndrome
Clinodactyly of the 5th finger, Hallux valgus, Large fontanelles, Delayed cranial suture closure OMIM:616863
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Dec... OMIM:259440
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormality of th... ORPHA:2511
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly ORPHA:2787
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil... OMIM:166220
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... OMIM:619795
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced ... ORPHA:970
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Brachydactyly, Micrognathia, Abnormality of the humerus, Joint stiffness... ORPHA:2496
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Short neck, Hypoplastic ilia, Wide anterior fontan... ORPHA:2347
Lethal Osteosclerotic Bone Dysplasia
Short neck, Micrognathia, Large fontanelles, Mandibular aplasia, Retrognathia, Delayed cranial su... ORPHA:1832
Achondroplasia
Lumbar hyperlordosis, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of fing... ORPHA:15
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... ORPHA:93316
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... ORPHA:3250
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... OMIM:608728
Grant Syndrome
Joint dislocation, Bowing of the long bones, Micrognathia, Large fontanelles, Decreased skull oss... ORPHA:2097
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Coxa vara, Ve... OMIM:610968
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc... OMIM:166200
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Kniest Dysplasia
Hip contracture, Enlarged joints, Dumbbell-shaped long bone, Short neck, Abnormal cartilage colla... OMIM:156550
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones... ORPHA:166277
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Neonata... OMIM:245650
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Broad hallux, Short neck, Micrognathia, Wide anterior fontanel, Hip dysp... OMIM:614541
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... OMIM:613849
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Micrognathia, Fl... OMIM:215150
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m... ORPHA:1416
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... ORPHA:363417
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Abnorm... ORPHA:94068
Hypochondroplasia
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Flared metaphysis, Short lo... OMIM:146000
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Elb... ORPHA:3258
Bruck Syndrome
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Iliac crest serration, Short neck, Wide distal femoral metaphysis, Delayed epip... OMIM:613320
Grant Syndrome
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple enchondromatosis,... ORPHA:296
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Oste... OMIM:231070
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Cole-Carpenter Syndrome
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... ORPHA:2050
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... OMIM:619751
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Pycnodysostosis
Persistent open anterior fontanelle, Increased bone mineral density, Wormian bones, Aplastic clav... OMIM:265800
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, F... OMIM:617952
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Joint stiffness, Metatarsus adductus, Elbow disloca... ORPHA:2249
Cleidocranial Dysplasia
Mandibular prognathia, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5t... ORPHA:1452
Acromicric Dysplasia
Short metacarpal, Ovoid vertebral bodies, Delayed skeletal maturation, Cone-shaped epiphysis, Sho... OMIM:102370
Dysostosis, Stanescu Type
Bowing of the long bones, Persistent open anterior fontanelle, Increased bone mineral density, Ab... ORPHA:1798
Osteogenesis Imperfecta, Type Vii
Osteopenia, Death in infancy, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Fem... OMIM:610682
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... ORPHA:457395
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... ORPHA:763
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... OMIM:614856
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... OMIM:300106
Acrocephalopolydactyly
Genu recurvatum, Short neck, Short long bone, Premature closure of fontanelles, Brachydactyly ORPHA:221054
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Recurrent fractures, ... OMIM:616229
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Lethal Recessive Chondrodysplasia
Accelerated skeletal maturation, Micrognathia, Generalized osteosclerosis, Short long bone, Flare... ORPHA:1423
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Sacral dimple, Vertebral fusion, Short long bone, Vertebral segmentation defect OMIM:618845
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Accelerated skeletal maturation, Craniosy... OMIM:175700
Melnick-Needles Syndrome
Delayed eruption of teeth, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, ... ORPHA:2484
Gillessen-Kaesbach-Nishimura Syndrome
Micrognathia, Short neck, Wide anterior fontanel, Metaphyseal widening, Flexion contracture, Decr... OMIM:263210
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid... OMIM:620099
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Wide cranial sutures, Micrognat... OMIM:601390
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increased susceptibil... OMIM:609220
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Hypoplasia of the odontoi... ORPHA:239
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly... OMIM:616294
Spondylometaphyseal Dysplasia, Pagnamenta Type
Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Sho... OMIM:619638
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platyspondyly, Scol... OMIM:619131
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal wideni... OMIM:300232
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Hypoplastic iliac wing, Abnor... ORPHA:93315
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal, Short tibia... OMIM:118651
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... OMIM:259410
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Delayed skeletal maturation, S... ORPHA:93324
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Micrognathia, Coronal craniosynostosis, Reduced bone mineral den... OMIM:112240
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Disc-like vertebral bodies, Ovoid vertebral bodies, Dumbbell-shaped long bone, Hyp... OMIM:151210
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Micrognathia, Absent thumb, Aplasia/Hypoplasia of the distal p... ORPHA:1234
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Wormian bones, Brachydactyly ORPHA:2863
Laron Syndrome
Delayed skeletal maturation, Abnormal joint morphology, Short long bone OMIM:262500
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... OMIM:618961
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc... ORPHA:2788
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Delayed skeletal maturation, Congenital hip dislocation, Wormian bones OMIM:614450
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Hyperlordosis, Spina bif... ORPHA:2780
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o... OMIM:166210
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of the hand, Abn... OMIM:271665
Craniosynostosis 2
Bicoronal synostosis, Craniosynostosis, Supernumerary tooth, Metopic synostosis, Triphalangeal th... OMIM:604757
Van Maldergem Syndrome 2
Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Wide cranial sutures, Micrognat... OMIM:615546
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Hypoplastic ver... OMIM:224300
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... OMIM:184253
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... OMIM:269250
Coffin-Siris Syndrome 6
Kyphoscoliosis, Micrognathia, Wormian bones, Clinodactyly, Retrognathia, Brachydactyly OMIM:617808
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Joint la... OMIM:615777
Fibrochondrogenesis 2
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl... OMIM:614524
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... OMIM:108720
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Short neck, ... OMIM:616897
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Lumbar hyperlordosis, ... OMIM:250420
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Single interphalangeal crease of fifth finger, Short neck, Hypoplastic iliac wi... OMIM:611717
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Abnormal dental enamel morphology, Tarsal synostosis, Aplastic clavic... ORPHA:85199
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Miscarriage, Bowing of the legs, Hypoplastic ilia, Micrognathia, Short neck, An... ORPHA:1865
Mohr Syndrome
Syndactyly, Wormian bones, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Po... OMIM:252100
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... ORPHA:198
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... ORPHA:321
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... OMIM:616007
Frank-Ter Haar Syndrome
Short palm, Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho... OMIM:249420
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micrognathia, Short neck, Metaphyseal widening, Limit... OMIM:224400
Craniosynostosis 6
Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Scoliosis, Spina ... OMIM:616602
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Aplastic... ORPHA:50945
Greenberg Dysplasia
Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variation in bone mi... OMIM:215140
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... ORPHA:83
Autosomal Recessive Cutis Laxa Type 2A
Persistent open anterior fontanelle, Congenital hip dislocation, Delayed cranial suture closure, ... ORPHA:357058
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Coxa v... OMIM:119600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Fifth finger distal phalanx cl... OMIM:257850
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... OMIM:252600
Stuve-Wiedemann Syndrome 1
Enlarged joints, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee flexion contractur... OMIM:601559
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosi... ORPHA:794
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... ORPHA:140
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Hypoplastic ilia, Delayed p... ORPHA:93296
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Brachydactyly, Recurrent fractures, Micrognathia, Hypoplasia of the ma... OMIM:601812
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Abnormal metatarsal morphology, Short neck, Delayed skeletal maturation, Cuboid... ORPHA:163654
Atelosteogenesis Type I
Joint dislocation, Short femur, Micrognathia, Abnormal ossification involving the femoral head an... ORPHA:1190
Potocki-Shaffer Syndrome
Wormian bones, 2-5 finger cutaneous syndactyly, Brachydactyly OMIM:601224
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Wide anterior fontanel, Craniosynostosis OMIM:601853
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul... ORPHA:289157
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... OMIM:304120
Melnick-Needles Syndrome
Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Anterio... OMIM:309350
Silver-Russell Syndrome 1
Syndactyly, Micrognathia, Delayed skeletal maturation, Short distal phalanx of the 5th finger, Cl... OMIM:180860
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Micrognathia, Flexion contracture, Hypoplasia of teeth, Progressive cla... OMIM:608612
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... OMIM:200610
Menkes Disease
Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Death in childhood, Wormian ... OMIM:309400
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micrognathia, Short long bone, Neonatal death, Pterygium, Anisospondyly OMIM:224410
Idiopathic Congenital Hypothyroidism
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ... ORPHA:95717
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... ORPHA:93357
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Cutis Laxa, Autosomal Recessive, Type Iiia
Wide cranial sutures, Congenital hip dislocation, Delayed skeletal maturation, Hip dislocation, L... OMIM:219150
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... OMIM:187600
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Schwartz-Jampel Syndrome
Micrognathia, Short neck, Coxa vara, Wrist flexion contracture, Death in infancy, Abnormally ossi... ORPHA:800
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Delayed cranial suture closure, Kyphoscoliosis, Micrognathia, Severe generalized... OMIM:210730
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Joint laxity, Aplasia... OMIM:151050
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosis,... OMIM:252500
Lowry-Maclean Syndrome
Osteopenia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Craniosyn... ORPHA:2409
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Wide cranial sutures, Limited elbow movement, Micrognathia, Delayed closure of... OMIM:614008
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Down-sloping shoulders, Coxa valga, Micrognathia, Joint stiffness, Flexion contractur... OMIM:248370
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Large posterior fontanelle, Postaxial polydactyly, Micrognathia, Short neck, Wide an... OMIM:617925
Lateral Meningocele Syndrome
Prominent metopic ridge, Hyperlordosis, Short neck, Micrognathia, Kyphosis, Abnormal form of the ... ORPHA:2789
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Bicoronal synostosis, Joint stiffness, Tracheobronchomalacia, Short long bone, Scoliosis, Short p... OMIM:619184
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Delayed cranial suture closure, Micrognathia ORPHA:1129
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... OMIM:156400
Dubowitz Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Sacral dimple, Toe syndactyly, Sandal... ORPHA:235
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Ovoid vertebral b... ORPHA:85167
Lessel-Kreienkamp Syndrome
Clinodactyly of the 5th finger, Wide cranial sutures, Dental malocclusion OMIM:619149
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Broad femoral neck, Micrognathia, Short neck, Kyphoscoliosis, Squ... OMIM:611209
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... ORPHA:2256
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Osteopenia, Joint laxity, Hip dislocation, Wormian bones, Delayed cranial suture ... OMIM:616603
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Kyphoscoliosis, Micrognathia, Short neck, Tall lumbar vertebral bodies,... OMIM:102500
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morpholo... ORPHA:666
Opsismodysplasia
Short metacarpal, Short neck, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... OMIM:258480
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Finger syndactyly, Increased bone mineral density, Abnormal dental enamel ... ORPHA:2658
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Kyphoscoliosis, Multiple prenatal fractures, Wormian bones, Vertebral comp... OMIM:618644
Xylt1-Cdg
Joint dislocation, Joint laxity, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, ... ORPHA:370930
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Large fontanelles, Scoliosis, W... OMIM:612940
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects... OMIM:259100
Gapo Syndrome
Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Micrognathia, Wide an... OMIM:230740
Spondylometaphyseal Dysplasia, Sedaghatian Type
Large posterior fontanelle, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow grea... OMIM:250220
Marbach-Rustad Progeroid Syndrome
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er... OMIM:619322
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, ... ORPHA:96334
Craniosynostosis 4
Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Corona... OMIM:600775
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... OMIM:602535
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Micrognathia, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian... OMIM:130720
Tenorio Syndrome
Mandibular prognathia, Osteopenia, Joint laxity, Scoliosis, Delayed cranial suture closure OMIM:616260
Parietal Foramina 1
Wormian bones OMIM:168500
Moderate Hemophilia A
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... ORPHA:169805
Mandibuloacral Dysplasia
Micrognathia, Hypoplasia of teeth, Contractures of the large joints, Osteolytic defects of the di... ORPHA:2457
Baraitser-Winter Cerebrofrontofacial Syndrome
Prominent metopic ridge, Duplication of thumb phalanx, Short neck, Micrognathia, Joint stiffness,... ORPHA:2995
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Short neck, Bone pain, Decreased skull ossification, Partial absence of... ORPHA:955
Silver-Russell Syndrome
Sandal gap, Micrognathia, Delayed skeletal maturation, Abnormal appendicular skeleton morphology,... ORPHA:813
Cdags Syndrome
Sagittal craniosynostosis, Kyphosis, Large fontanelles, Short clavicles, Lambdoidal craniosynosto... OMIM:603116
Wrinkly Skin Syndrome
Microretrognathia, Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Delayed cra... OMIM:278250
Familial Thyroid Dyshormonogenesis
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ... ORPHA:95716
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Overlapping toe, Delayed skeletal maturation, Flexion contracture, Scoliosis, Overlapping fingers... OMIM:619383
Ogden Syndrome
Microretrognathia, Broad hallux, Delayed cranial suture closure, Scoliosis ORPHA:276432
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ... OMIM:225500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly,... OMIM:616300
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicl... OMIM:617159
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Hallermann-Streiff Syndrome
Natal tooth, Wormian bones, Micrognathia, Hyperlordosis, Supernumerary tooth, Metaphyseal widenin... OMIM:234100
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Metatarsus adductus, Delayed skeletal maturation, Premature osteoarthritis,... OMIM:611962
Alg9-Cdg
Microretrognathia, Prominent metopic ridge, Micrognathia, Short neck, Wide anterior fontanel, Fla... ORPHA:79328
White-Sutton Syndrome
Mandibular prognathia, Joint laxity, Micrognathia, Short neck, Hypoplastic cervical vertebrae, Wo... OMIM:616364
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Short neck, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... OMIM:180700
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Femoral bowing, Short long bone, Overla... OMIM:617022
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Osteopenia, Short metacarpal, Joint dislocation, Aplasia/hypoplasia in... ORPHA:221016
De Barsy Syndrome
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Kyphoscoliosis, Delayed closur... ORPHA:2962
Alkaptonuria
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... ORPHA:56
Myhre Syndrome
Mandibular prognathia, Vertebral fusion, Overlapping toe, Short neck, Hypoplasia of the maxilla, ... OMIM:139210
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Limitation of joint mobility, Osteolysis, Large fontanelles, Osteolytic defe... ORPHA:90153
Rubinstein-Taybi Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Clinodactyl... OMIM:180849
Curry-Jones Syndrome
Bicoronal synostosis, Wormian bones, Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3... OMIM:601707
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Sacrococcygeal teratoma, Overlapping toe, Kyphoscoliosis, Micrognathia... ORPHA:798
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ... ORPHA:93325
Immunodeficiency 49
Wormian bones, Natal tooth, Micrognathia OMIM:617237
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Wide anterior fontanel, Hip dislocation, Joint subluxation, Pathologic fracture, De... ORPHA:90349
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Scoliosis, Brachydactyly OMIM:613819
Hennekam-Beemer Syndrome
Camptodactyly of finger, Micrognathia, Scoliosis, Clinodactyly of the 5th finger, Delayed cranial... ORPHA:2135
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bo... OMIM:618188
Diamond-Blackfan Anemia 1
Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of ... OMIM:105650
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex conge... ORPHA:86822
Menkes Disease
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Os... ORPHA:565
D-Bifunctional Protein Deficiency
Osteopenia, Micrognathia, Delayed skeletal maturation, Split hand, Large fontanelles, Hammertoe, ... OMIM:261515
Williams Syndrome
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C... ORPHA:904
Aymé-Gripp Syndrome
Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered finger, Limitation of join... ORPHA:1272
46,Xy Sex Reversal 4
Distal symphalangism, Micrognathia OMIM:154230
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Wide distal femoral metaphy... OMIM:269150
Geleophysic Dysplasia 1
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l... OMIM:231050
Adult-Onset Still Disease
Cartilage destruction, Joint swelling, Arthritis ORPHA:829
Trisomy 10P
Thumb contracture, Wide cranial sutures, Micrognathia, Short toe, Hemivertebrae, Camptodactyly, R... ORPHA:171929
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Micrognathia, Coxa valga, Short nec... ORPHA:263508
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Micrognathia,... OMIM:619127
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... OMIM:615503
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Finger clinodactyly, Hypoplasia of the fronta... ORPHA:306542
Hartsfield Syndrome
Craniosynostosis, Syndactyly, Ectrodactyly, Hypoplasia of the frontal bone OMIM:615465
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Joint dislocation, Joint laxity, Arachnodactyly, Generalized joint laxity, Lar... OMIM:601776
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Sacral dimple, Broad hallux phalanx, Preaxial hand polydactyly, Large fontanel... ORPHA:2211
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Micrognathia, Abnormal finger morphology, Aplasia of... ORPHA:3472
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Trach... ORPHA:444077
Ogden Syndrome
Microretrognathia, Large posterior fontanelle, Prominent metopic ridge, Congenital hip dislocatio... OMIM:300855
Isolated Thyroid-Stimulating Hormone Deficiency
Large posterior fontanelle, Delayed skeletal maturation, Delayed proximal femoral epiphyseal ossi... ORPHA:90674
Ayme-Gripp Syndrome
Mandibular prognathia, Tapered finger, Radioulnar synostosis, Camptodactyly, Delayed cranial sutu... OMIM:601088
Wrinkly Skin Syndrome
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Kyphoscoliosis, Delayed closur... ORPHA:2834
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... OMIM:216340
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, Accelerated skeletal maturation, 2-3 toe syndactyly, Scoliosis, ... OMIM:618653
Pyknoachondrogenesis
Abnormal intramembranous ossification, Short iliac bones, Abnormal iliac wing morphology, Poorly ... ORPHA:3003
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Craniosynostosis, Micrognathia, Tapered finger, Small hand, Hip dysplasia, Delayed cranial suture... OMIM:620005
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth, Aplasia of the epiglottis... OMIM:617088
Coffin-Siris Syndrome 12
Joint laxity, Micrognathia, Short thumb, Slender finger, Cutaneous syndactyly, Ridged cranial sut... OMIM:619325
Reactive Arthritis
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis, Joint swelling ORPHA:29207
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Large posterior fontanelle, Short neck, Delayed proximal femoral epiphyseal ossification, Hand po... ORPHA:226307
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Delayed cranial suture closure OMIM:613038
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Genu recurvatum, Hip dislocation, Abnormal curvature of the vertebral c... ORPHA:90348
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Osteochondrosis, Osteolysis ORPHA:2396
Medulloblastoma
Back pain, Delayed cranial suture closure ORPHA:616
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... ORPHA:285
1P36 Deletion Syndrome
Camptodactyly of finger, Joint stiffness, Kyphosis, Spinal canal stenosis, Short foot, Hip dyspla... ORPHA:1606
Pallister-Killian Syndrome
Congenital hip dislocation, Micrognathia, Short neck, Flexion contracture, Camptodactyly of 2nd-5... 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.

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