Not currently registered for phenotyping at IMPC

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

Gene Summary

signal peptide, CUB domain, EGF-like 2
ICRFP703N2430Q5.1,  4932442O19Rik,  Cegf1,  ICRFP703B1614Q5.1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Scube2 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 Scube2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Disproportionate short-limb short stature, Failure to thrive, Epiphyseal stippling, S... OMIM:600121
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... ORPHA:79106
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... ORPHA:564003
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Craniofacial hyperostosis, Finger syndactyly, Tall stature, Curved distal phalanges of the hand, ... ORPHA:3152
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... ORPHA:1879
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, S... OMIM:619598
Acromesomelic Dysplasia 2A
Acromesomelia, Disproportionate short-limb short stature, Short tibia, Aplasia/Hypoplasia involvi... OMIM:200700
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... ORPHA:3416
Epiphyseal Dysplasia, Multiple, 1
Severe short stature, Delayed epiphyseal ossification, Hip osteoarthritis, Epiphyseal dysplasia, ... OMIM:132400
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Acrocapitofemoral Dysplasia
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl... OMIM:607078
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Intr... ORPHA:1972
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... ORPHA:75508
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b... ORPHA:3344
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R... ORPHA:53697
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Limb undergrowth, Abnormal limb bone morphology, Short stature... ORPHA:2204
Osebold-Remondini Syndrome
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Disproportionate short-limb short stature, Short toe, Short tibia, Ap... ORPHA:2098
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Metaphyseal irregularity, Rickets, Failure to thrive, Bulging ep... OMIM:600081
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... ORPHA:970
Leri-Weill Dyschondrosteosis
Mesomelia, Abnormal femoral neck morphology, Radial bowing, Disproportionate short-limb short sta... OMIM:127300
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ge... OMIM:617719
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Decreased body weight, Brachydactyly, Short stature, Reduced bone mineral den... OMIM:618392
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Upper limb undergrowth... ORPHA:94068
Acromesomelic Dysplasia 2C
Acromesomelia, Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, R... OMIM:201250
Hip Dysplasia, Beukes Type
Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Metatropic Dysplasia
Severe short stature, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hyp... ORPHA:2635
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Pyle Disease
Absent paranasal sinuses, Genu valgum, Limited elbow extension, Thin bony cortex, Metaphyseal dys... OMIM:265900
Multiple Epiphyseal Dysplasia, Lowry Type
Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Genu valgum, ... ORPHA:166016
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Osteogenesis Imperfecta, Type Xxii
Slender long bone, Intrauterine growth retardation, Bowing of the long bones, Pseudoarthrosis, Th... OMIM:619795
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... OMIM:300554
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... ORPHA:356961
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Failure to thrive, Slender long bones with narrow diaphyses, Dense metaphyseal bands,... ORPHA:50811
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Metaphyseal irregularity, Rickets, Failure to thrive, Bulging ep... OMIM:241530
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Decreased fibular diameter, Intrauterine growth retardation, Micro... OMIM:616897
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... ORPHA:1525
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Mesomelic short statur... OMIM:249700
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Disproportionate short-limb short stature, Obesity, ... ORPHA:174
Short 5th finger, Ectopic ossification, Short distal phalanx of the thumb, Short 5th metacarpal, ... ORPHA:79445
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Micrognathia, Abnormal ... ORPHA:2097
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Broad femoral neck, Failure to thrive, Abnormal metaphysis morphology, Tapered finger... ORPHA:157965
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... OMIM:602080
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Osteogenesis Imperfecta, Type X
Osteopenia, Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Micrognathia, Tibial bowing, Dec... OMIM:613848
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Metaphyseal irregularity, Rickets... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Metaphyseal irregularity, Rickets... OMIM:277440
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... ORPHA:1952
Atelosteogenesis Type I
Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Neonatal short-trunk sho... ORPHA:1190
Ck Syndrome
Slender build, Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology, Joint ... OMIM:300831
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ... OMIM:619638
Short Stature, Brussels Type
Delayed epiphyseal ossification, Microretrognathia, Calcification of cartilage, Short stature, Gr... ORPHA:2867
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, In... OMIM:620076
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno... ORPHA:1486
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Osteomalacia, Ricket... ORPHA:289176
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b... ORPHA:1310
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Hypoplasti... OMIM:601559
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Osteopenia, Abnormality of carpal bone ossification, Failure to thrive, Slender long bones with n... OMIM:608154
Orofaciodigital Syndrome Viii
Short stature, Syndactyly, Short tibia, Polydactyly OMIM:300484
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ... OMIM:144750
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Short tibia, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Poorly ossif... ORPHA:1263
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... OMIM:226900
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Broad phalanx, ... ORPHA:56304
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Greenberg Dysplasia
Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Micrognathia, Decreased skull ossifica... ORPHA:1426
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Hypoplasia of the odontoid pr... ORPHA:93284
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Joint stiffness, Femoral bowing,... ORPHA:1860
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... OMIM:108720
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu... ORPHA:85184
Autosomal Recessive Primary Microcephaly
Short stature, Abnormal cortical bone morphology, Growth delay ORPHA:2512
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... ORPHA:93333
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Increased upper to lower segm... OMIM:271530
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Micrognathi... OMIM:251230
Weismann-Netter Syndrome
Severe short stature, Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared ili... OMIM:112350
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Osteo... ORPHA:289157
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Rhizomelia, Neonatal short-limb short stature, Radial bowing, Flared metaphysis, Femoral bowing, ... OMIM:100800
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ... ORPHA:440354
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges... ORPHA:2484
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Disproportionate short-limb short stature, Flared metaphysis, Limited elbow extension, Trident ha... OMIM:146000
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi... OMIM:251450
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Short stature, Recurrent fract... OMIM:615066
Ollier Disease
Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnormal m... ORPHA:296
Multiple Epiphyseal Dysplasia Type 4
Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Premature osteoarthr... ORPHA:93307
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Short ribs, Subperiosteal bone form... OMIM:618188
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing... ORPHA:93356
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Sho... ORPHA:1106
Kyphomelic Dysplasia
Disproportionate short stature, Limitation of joint mobility, Radial bowing, Flared metaphysis, M... OMIM:211350
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Solitary Bone Cyst
Abnormal ilium morphology, Pathologic fracture, Lytic defects of the radius, Abnormal tibia morph... ORPHA:83468
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Infancy onset short-trunk short stature, Joint contracture of the hand... ORPHA:1159
Kniest Dysplasia
Delayed epiphyseal ossification, Rhizomelia, Limitation of joint mobility, Tracheomalacia, Dumbbe... OMIM:156550
Orofaciodigital Syndrome Ix
Toe syndactyly, Short tibia, Hand polydactyly, Camptodactyly, Short stature OMIM:258865
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Narrow pelvis bone, Long hallu... OMIM:600002
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Broad femoral neck... OMIM:156500
Proteus Syndrome
Mandibular hyperostosis, Hypertrophy of skin of soles, Facial hyperostosis, Thin bony cortex, Cal... OMIM:176920
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Micrognathia, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Ge... OMIM:617952
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi... OMIM:607634
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ... OMIM:259420
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Disproportionate short-trunk short stature, Ab... ORPHA:168549
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Failure to thrive, Sandal gap, Short humerus, Short ribs, Talipes equino... OMIM:607143
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Symphalangism of the thumb, Failure to thrive, Short toe, Clinodactyly, Broad hallux, Intrauterin... OMIM:620494
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas... OMIM:616300
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne... OMIM:609220
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Pathologic fracture, Abnorm... ORPHA:221016
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Disproportionate short stature, Limitation of joint mobility, Dumbbell-shap... ORPHA:1427
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Abnormal ulnar metaphysis m... ORPHA:221008
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Decreased calvarial ossifica... OMIM:617925
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intrauterine growth retardation, Micrognathia, Tibial bowing, Lower limb undergrow... ORPHA:3035
Osteogenesis Imperfecta, Type Viii
Osteopenia, Disproportionate short-limb short stature, Radial bowing, Slender long bone, Femoral ... OMIM:610915
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short femoral neck, Knee dislocation, Obesity, Joint hypermobility, Carpal bone hypoplasia, Pes p... OMIM:618395
Osteogenesis Imperfecta, Type Ii
Abnormal pelvic girdle bone morphology, Small for gestational age, Disproportionate short-limb sh... OMIM:166210
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Pes planus, Short stature, Generalized osteoporosis, Small joint hypermobilty, Short... OMIM:184095
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Short thumb, I... ORPHA:2909
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Decreased body weight, Short stature, Growth delay, Wide anter... OMIM:614886
Calvarial Doughnut Lesions With Bone Fragility
Severe short stature, Osteopenia, Femoral bowing, Osteoporosis, Recurrent fractures OMIM:126550
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Orofaciodigital Syndrome Vi
Toe syndactyly, Failure to thrive, Clinodactyly, Preaxial hand polydactyly, Radial deviation of f... OMIM:277170
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Postnatal growth retardation, Hypoplastic i... ORPHA:96334
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Multiple Osteochondromas
Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abnormal hand morp... ORPHA:321
Stüve-Wiedemann Syndrome
Osteopenia, Absent patellar reflexes, Limitation of joint mobility, Micromelia, Camptodactyly of ... ORPHA:3206
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis, Growth delay OMIM:612301
Omodysplasia 1
Rhizomelia, Disproportionate short-limb short stature, Short tibia, Limited knee flexion/extensio... OMIM:258315
Dent Disease
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae... ORPHA:1652
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Epiphyseal stippling, Talipes eq... ORPHA:86822
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Short femur OMIM:601357
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hip contracture, Bowing of th... OMIM:210710
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... ORPHA:2378
Fibrous Dysplasia Of Bone
Rickets, Lower limb asymmetry, Osteomalacia, Cortical irregularity, Pathologic fracture, Abnormal... ORPHA:249
Hypophosphatemic Bone Disease
Short stature, Bowing of the legs, Rickets, Osteomalacia OMIM:146350
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Disproportionate short-limb short stature, M... OMIM:602557
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Disproportionate short stature, Synostosis of carpal bones, Micromelia... ORPHA:2634
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Disproportionate short-trunk short stature,... ORPHA:457395
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Short femoral neck, Camptodactyly of finger, Camptodactyly of toe, K... ORPHA:2848
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Campomelic Dysplasia
Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, 11 pairs of ribs, Femoral bowi... ORPHA:140
Intellectual Developmental Disorder, Autosomal Dominant 53
Genu valgum, Joint hypermobility, Overgrowth, Growth delay, Short femur OMIM:617798
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph... ORPHA:198
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Narrow pelvis bone, Proximal femoral epiphysiolysis, Short fourth metatarsal, Overlap... OMIM:616723
Small hand, Clubbing of toes, Limitation of joint mobility, Abnormal epiphysis morphology, Palmop... ORPHA:2796
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal... OMIM:223800
Rhyns Syndrome
Osteopenia, Radial bowing, Brachydactyly, Short long bone, Short stature, Osteoporosis, Short fem... OMIM:602152
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Disproportionate short-limb short stature, Short femoral neck, Flared metaphysis, Short palm, Equ... ORPHA:2502
Gm1-Gangliosidosis, Type Ii
Failure to thrive, Joint stiffness, Hypoplastic vertebral bodies, Limb undergrowth, Thin bony cor... OMIM:230600
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Disproport... OMIM:609441
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Abnormal cortical bone morphology, Increased susceptibility to fr... ORPHA:2769
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ... ORPHA:93315
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Hip dislocation, Toe syndactyly, Postaxial foot pol... OMIM:206920
Shox-Related Short Stature
Obesity, Genu valgum, Micrognathia, Tibial bowing, Ulnar radial head dislocation, Lower limb unde... ORPHA:314795
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Spondyloocular Syndrome
Osteopenia, Overlapping toe, Decreased body weight, Arachnodactyly, Femur fracture, Long toe, Pes... OMIM:605822
Oncogenic Osteomalacia
Abnormal foot morphology, Pathologic fracture, Abnormality of the tarsal bones, Abnormal femur mo... ORPHA:352540
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Short toe, Postnatal growth retardation, Intrauterine growth ret... OMIM:616145
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto... OMIM:134780
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Lenz-Majewski Hyperostotic Dwarfism
Severe short stature, Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial... ORPHA:2658
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... OMIM:227270
Ophthalmomandibulomelic Dysplasia
Mesomelia, Lateral humeral condyle aplasia, Radial bowing, Decreased mobility 3rd-5th fingers, Fi... OMIM:164900
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Short tibia, Short femur OMIM:620306
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Talipes, Short hallux, Pes planus, Short 5th finger, Abn... ORPHA:508488
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Postnatal growth retardation, Hypoplastic i... OMIM:210720
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Joint stiffness, Broad metatarsal, Proportionate short stature, Brac... OMIM:277600
Frank-Ter Haar Syndrome
Osteopenia, Flared metaphysis, Cortical irregularity, Micrognathia, Bowing of the long bones, Tal... OMIM:249420
Osteogenesis Imperfecta, Type Iv
Femoral bowing present at birth, straightening with time, Increased susceptibility to fractures, ... OMIM:166220
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Camptodactyly of finger, Micrognathia, Mesomelic/rhizom... ORPHA:2839
Saul-Wilson Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... OMIM:618150
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Micrognathia, Joint hypermobility, Talipes, Talipes equinovarus, ... OMIM:300990
Faciocardiomelic Syndrome
Osteopenia, Slender long bone, Large for gestational age, Hypoplastic pelvis, Micrognathia, Polyd... OMIM:612731
Oculodentodigital Dysplasia
Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Cranial hyperostosis, Camptodactyly ... ORPHA:2710
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Short humerus, Polydactyly, Flexion contracture, Growth delay, Short femur ORPHA:17
Geroderma Osteodysplasticum
Severe short stature, Osteopenia, Femoral bowing, Increased susceptibility to fractures, Tibial b... OMIM:231070
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Tall stature, Long hallux, Talipes equinovarus, Thin bony cortex, Long fingers, Short stature, Os... OMIM:309583
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Micrognathia, Aplasia/hypoplasia... ORPHA:3320
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Disproportionate short-limb short stature, Micromelia, Fi... ORPHA:3144
Osteogenesis Imperfecta
Abnormal tibia morphology, Genu valgum, Micrognathia, Decreased skull ossification, Bowing of the... ORPHA:666
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Fibrochondrogenesis 1
Hypoplastic ischia, Rhizomelia, Joint contracture of the hand, Hypoplastic scapulae, Small hand, ... OMIM:228520
Weill-Marchesani Syndrome 2
Broad phalanges of the hand, Short finger, Elbow flexion contracture, Joint stiffness, Broad meta... OMIM:608328
Craniotubular Dysplasia, Ikegawa Type
Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, Thin bony cortex... OMIM:619727
Kenny-Caffey Syndrome, Type 2
Severe short stature, Abnormality of the medullary cavity of the long bones, Thickened cortex of ... OMIM:127000
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Failure to thrive, Short thumb, Camptodactyly of finger, Carpal synos... ORPHA:90652
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Hypoplastic ilia, Failure to thrive, Camptodactyly of finger, Slender build, Intraute... ORPHA:3455
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... OMIM:208500
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Flared metaphysis, Abnormal cartilage morphology, Broad long bones, Mesomelic/r... ORPHA:2347
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... OMIM:164745
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs... OMIM:263520
Seckel Syndrome 1
Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Postnatal ... OMIM:210600
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long ... ORPHA:488434
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteomalacia, Micrognathia, Abnormal metacarpal morphology, Large hands, Aplasia/hypoplasia of th... ORPHA:2636
Wiedemann-Rautenstrauch Syndrome
Hypoplastic ilia, Failure to thrive, Clinodactyly, Slender long bone, Long foot, Intrauterine gro... OMIM:264090
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Craniofacial osteosclerosis, Failure to thrive, Tracheomalacia, Sc... OMIM:300373
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu valgum, Talipes equinovarus, Pes planus, Flattened epiphysis, Dislocated radial head, Short ... OMIM:143095
Kinsship Syndrome
Mesomelia, Osteopenia, Failure to thrive, Micrognathia, Fibular hypoplasia, Polydactyly, Pes plan... OMIM:619297
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove... OMIM:304120
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short stature, Tapered finger, Short humerus, Short femur OMIM:618367
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Intrauterine growth retardation, Rud... ORPHA:958
Cousin Syndrome
Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Phocomelia, Schinzel Type
Finger aplasia, Disproportionate short stature, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia i... ORPHA:2879
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ... OMIM:218330
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Intrauterine... OMIM:200980
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Failure to thrive, Slender build, Intrauterine growth retardation, Reduced b... OMIM:613658
Orofaciodigital Syndrome X
Finger aplasia, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand polydactyly OMIM:165590
Tibial Hemimelia
Absent tibia OMIM:275220
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Tibial bowing, Joint hype... OMIM:259770
Mesomelia-Synostoses Syndrome
Mesomelia, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Progressive forearm bowing,... OMIM:600383
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Orofaciodigital Syndrome Type 4
Severe short stature, Aplasia/Hypoplasia of the tibia, Absent crus of helix, Failure to thrive, F... ORPHA:2753
Boomerang Dysplasia
Severe short stature, Fibular aplasia, Absent radius, Hypoplastic iliac body OMIM:112310
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Preaxial foot polydactyly, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Intrauterine growth retardation, Micrognathia,... OMIM:236680
Joint stiffness, Abnormal cortical bone morphology, Abnormal morphology of ulna, Pes planus, Arth... ORPHA:93
Ulbright-Hodes Syndrome
Abnormal forearm bone morphology, Postnatal growth retardation, Fibular aplasia, Micrognathia, Hu... ORPHA:3404
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Tracheomalacia, Hypoplasia of proximal radius, Obesity, Micrognathia, Fibular hypopla... ORPHA:444077
Charge Syndrome
Bifid femur, Short thumb, Postnatal growth retardation, Micrognathia, Down-sloping shoulders, Han... OMIM:214800


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 Scube2

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 Scube2.

No publications found that use IMPC mice or data for Scube2.

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