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Gene: Ssbp3 MGI:1919725

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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:
single-stranded DNA binding protein 3
Synonyms:
5730488C10Rik,  2610021L12Rik,  2610200M23Rik

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 Ssbp3 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 Ssbp3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Spondylocostal Dysostosis
Microcephaly, Missing ribs, Short neck, Hyperlordosis, Short thorax, Abnormal rib morphology, Abn... ORPHA:1797
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Spina bifida, Kyphos... OMIM:109400
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Aicardi Syndrome
Butterfly vertebrae, Cerebellar vermis hypoplasia, Block vertebrae, Spina bifida, Microcephaly, D... OMIM:304050
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Microcephaly, Abnormality of the elbow, Abnormal rib morphology, Pectus carina... ORPHA:3268
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Cerebrofaciothoracic Dysplasia
Cerebellar vermis hypoplasia, Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defec... ORPHA:1394
Femoral-Facial Syndrome
Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Coxa vara, Aplasia/... ORPHA:1988
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... OMIM:173800
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... OMIM:213980
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... OMIM:156530
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Septopreoptic Holoprosencephaly
Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian polymicrogyria, Abnormal rib mo... ORPHA:280195
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Cerebellar vermis hypoplasia, Short neck, Vertebral segmentation defect, Squa... OMIM:611209
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Hydroce... OMIM:187600
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Hydrocephalus, Abnorm... ORPHA:2635
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hypoplastic iliac wing, Hydrocephalus, Metaphyseal cupping of proximal phalange... OMIM:300863
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Aicardi Syndrome
Block vertebrae, Microcephaly, Missing ribs, Partial agenesis of the corpus callosum, Rib fusion,... ORPHA:50
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Microcephaly, Pectus excavatum, Ri... ORPHA:2990
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... ORPHA:2345
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly OMIM:601374
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Thanatophoric Dysplasia Type 2
Encephalocele, Kyphosis, Hydrocephalus, Short thorax, Patent ductus arteriosus, Platyspondyly, Na... ORPHA:93274
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Microcephaly ORPHA:2435
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Decreased response to growth hormone stim... OMIM:146510
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve... OMIM:609223
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... OMIM:269250
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Abnormal form of the verte... ORPHA:750
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Hydrocephalus, Short thorax, Kyphosis, Patent ductus arteri... ORPHA:2655
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dis... OMIM:265000
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormality of the calcaneus... ORPHA:163966
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Lumbar hyperlordosis, Abnormal intervertebral disk morp... ORPHA:99642
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow... OMIM:602271
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased intervertebral space, ... OMIM:256050
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f... OMIM:609324
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Chromosome 1P36 Deletion Syndrome, Distal
Clinodactyly of the 5th finger, Pachygyria, Agenesis of corpus callosum, Patent ductus arteriosus... OMIM:607872
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Microphthalmia, Syndromic 3
Vertebral fusion, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Microcephaly, Missing ri... OMIM:206900
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Dysplastic corpus callosum, Rib fusion, Periventricul... ORPHA:544488
Mucopolysaccharidosis, Type Ivb
Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tu... OMIM:253010
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... OMIM:183900
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... ORPHA:2180
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain OMIM:616202
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Pseudoachondroplasia
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... OMIM:177170
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... OMIM:617719
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... ORPHA:93267
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... OMIM:607326
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi... OMIM:313420
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Microcephaly, Kyphosis, Patent ductus arteriosus, Rib ... ORPHA:1606
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... ORPHA:1507
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Short metatarsal, Abnormal rib morph... ORPHA:93351
Dysspondyloenchondromatosis
Joint dislocation, Cerebral calcification, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Abnor... ORPHA:85198
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ... ORPHA:163665
Odontochondrodysplasia 1
Genu recurvatum, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, G... OMIM:184260
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal rib morpho... ORPHA:2876
Cole-Carpenter Syndrome 2
Wide cranial sutures, Pectus excavatum, Kyphosis, Hydrocephalus, Thin ribs, Platyspondyly, Lambdo... OMIM:616294
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Macrocephaly, Abnormal vertebral morph... ORPHA:261197
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Vertebral wedging, Platyspondyly, Internal tibial t... OMIM:616583
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa vara, Femoral b... OMIM:608940
Cantu Syndrome
Broad hallux, Ovoid vertebral bodies, Short hallux, Short neck, Coxa valga, Metaphyseal widening,... OMIM:239850
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Cerebral calcification, Proximal placement of th... ORPHA:628
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Hypoplastic ilia, Abnormal sacroiliac joint morphology, Hy... ORPHA:1860
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met... OMIM:618961
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... OMIM:218600
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Microcephaly, Rib fusion, Vertebral arch anomaly, Cutan... OMIM:148050
Pallister-Hall Syndrome
Gonadotropin deficiency, Hemivertebrae, Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, ... ORPHA:672
Wolf-Hirschhorn Syndrome
Periventricular cysts, Abnormal form of the vertebral bodies, Cavum septum pellucidum, Intrauteri... OMIM:194190
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Pyle Disease
Metaphyseal dysplasia, Abnormal thorax morphology, Metaphyseal widening, Genu valgum, Platyspondy... OMIM:265900
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Hypoplasia of the corpus callosum OMIM:614688
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof, Short r... OMIM:151210
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Pectus excavatum, Hypop... OMIM:253220
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... ORPHA:1120
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narrow chest, Abnormal ... ORPHA:1354
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... OMIM:108720
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Postaxial polydactyly, Missing ribs, Hypoplastic ischia, Hydrocephalus, Ulnar bowi... OMIM:617866
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Microcephaly, Hypoplasia of the odontoid process, Small hand, C... ORPHA:85172
Achondroplasia
Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Trident hand, Genu varum, Lumba... OMIM:100800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cerebral calcification, Sclerotic vertebral body, Kyphosis, Hydrocephalus, Metaphyseal widening, ... OMIM:618476
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... ORPHA:2790
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip dislocation, ... OMIM:618395
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Cerebral calcification, Bowing of the long bones, Radial bowing, A... ORPHA:3035
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... ORPHA:280
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... OMIM:615777
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Short neck, Bowing of the legs, Metaphyseal wideni... OMIM:255800
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... ORPHA:1801
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening, Macrocephaly ORPHA:1513
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... OMIM:604864
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Abnormal sternum... ORPHA:457395
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bone... OMIM:259440
Juberg-Hayward Syndrome
Toe syndactyly, Microcephaly, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abn... ORPHA:2319
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, Co... OMIM:602111
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Greenberg Dysplasia
Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c... OMIM:215140
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... OMIM:300232
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... ORPHA:1856
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Macrocephaly, Umbili... ORPHA:93298
Kniest Dysplasia
Hip contracture, Enlarged joints, Dumbbell-shaped long bone, Short neck, Pectus excavatum, Delaye... OMIM:156550
Brachydactylous Dwarfism, Mseleni Type
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Platyspond... ORPHA:2619
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I... OMIM:617974
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... OMIM:619636
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... ORPHA:1517
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... OMIM:313400
Zttk Syndrome
Relative macrocephaly, Craniosynostosis, Dysplastic corpus callosum, Kyphosis, Patent ductus arte... OMIM:617140
Cole-Carpenter Syndrome
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal ri... ORPHA:2050
Hall-Riggs Syndrome
Metaphyseal dysplasia, Microcephaly, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scol... OMIM:234250
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibular overgrowth... OMIM:602557
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum OMIM:608361
Cog1-Cdg
Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Kyphoscoliosis, Short neck, Coxa ... ORPHA:263508
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Platyspondyly, Short thorax, Abnormal epiphysis morphology ORPHA:93283
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele OMIM:617562
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Smith-Mccort Dysplasia 2
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyper... OMIM:615222
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Microcephaly, Short neck, Dec... OMIM:616897
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Patent ductus arteriosus, Cone-shaped epiphysis, Platyspond... ORPHA:166272
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, Anterior beaking... OMIM:230650
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p... ORPHA:97360
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Short neck, Hyperlordosis, Kyphosis, Coxa valga, Sho... ORPHA:582
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widen... ORPHA:93352
Osteogenesis Imperfecta, Type Xv
Schizencephaly, Hypoplasia of the pons, Thin ribs, Platyspondyly, Cerebellar hypoplasia, Scoliosis OMIM:615220
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... OMIM:208230
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... OMIM:226980
Cleidocranial Dysplasia
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Tapered finger, Abnormal thumb morph... ORPHA:1452
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Ovoid vertebral bodies, Short neck, Coxa valga, Abnormality of the elbow, Flat acetabular roof, F... ORPHA:163649
Bruck Syndrome 1
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... OMIM:259450
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Hydrocephalus, Abnormal rib morphology, Abnorm... ORPHA:1834
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Thoracic dysplasia, Holoprosencephaly, Narrow chest, Short palm, ... OMIM:269860
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... OMIM:156510
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Abno... ORPHA:93360
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Pectus carinat... OMIM:614856
Anauxetic Dysplasia 1
Barrel-shaped chest, Hip contracture, Lumbar hyperlordosis, Short neck, Hypoplastic ilia, Short t... OMIM:607095
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo... ORPHA:2911
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Increased head circumference, Barrel-shaped chest,... ORPHA:94068
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Pectus excavatum, Microcephaly, Hyperlordosis, Kyphosis... ORPHA:2522
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Megalencephaly, Kyphosis, Hydrocephalus, Femoral bowing, Tibial bowing, Pla... OMIM:616482
Microcephalic Primordial Dwarfism, Toriello Type
Microcephaly, Abnormal rib morphology, Abnormal epiphysis morphology, Intrauterine growth retarda... ORPHA:2643
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio... OMIM:613320
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology, Macrocephaly,... ORPHA:1506
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Short neck, Microcephaly, Platyspondyly, Cone-shaped epiphyses of the distal phal... OMIM:618958
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Missing ribs, Aplasia/Hypoplasia of the distal pha... ORPHA:1647
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Thin ribs, Bell-shaped thorax, Tibial bowing,... OMIM:166210
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... OMIM:253200
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI OMIM:614465
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Short thorax, Abnormal carpal morphology, Hypopla... ORPHA:85166
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum... ORPHA:175
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Microcephaly ORPHA:276422
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... OMIM:609583
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hemivertebrae, Simplified gyral pattern, Cerebellar hemisphere hypoplasia, Lumbar hyperlordosis, ... ORPHA:500150
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Pseudodiastrophic Dysplasia
Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis ORPHA:85174
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI, Intrauterine gro... OMIM:611134
Dysosteosclerosis
Sclerotic scapulae, Delayed closure of the anterior fontanelle, Increased intervertebral space, A... OMIM:224300
Anauxetic Dysplasia 3
Short metacarpal, Thoracolumbar kyphoscoliosis, Pectus excavatum, Metaphyseal cupping, Hip sublux... OMIM:618853
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Hydrocephalus... ORPHA:261344
Mosaic Trisomy 14
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Hypophosphatasia, Infantile
Craniosynostosis, Bowing of the legs, Vertebral clefting, Platyspondyly, Stillbirth, Short ribs, ... OMIM:241500
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Narrow c... OMIM:304120
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the knee,... ORPHA:93316
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Short neck, Multiple joint dislocation, Pectus carinatum, Knee dislocation, Shoulder dislocation,... OMIM:245600
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... ORPHA:1427
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... OMIM:264180
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Grant Syndrome
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone... ORPHA:2097
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Epiphyseal dysplasia, Platyspondyly, Premature osteoarthritis OMIM:184840
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Short palm, Hypoplastic iliac wing, Short phalanx of... OMIM:611717
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Fractures of the long bones... ORPHA:319195
Joubert Syndrome 7
Encephalocele, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia OMIM:611560
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebra... ORPHA:93315
Osteogenesis Imperfecta, Type V
Hyperextensibility of the finger joints, Vertebral wedging, Abnormal pelvic girdle bone morpholog... OMIM:610967
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... ORPHA:2616
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Scol... ORPHA:1488
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... OMIM:619698
Bent Bone Dysplasia Syndrome 2
Relative macrocephaly, Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, Corona... OMIM:620076
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Relative macrocephaly, Postaxial polydactyly, Unicoronal synostosis, Horizontal ri... OMIM:616300
Joubert Syndrome 18
Molar tooth sign on MRI, Occipital encephalocele, Intrauterine growth retardation OMIM:614815
Cerebrocostomandibular Syndrome
Cerebral calcification, Spina bifida, Microcephaly, Kyphosis, Myelomeningocele, Meningocele, Pore... ORPHA:1393
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered finger, Flat capital femoral e... OMIM:612350
Vacterl/Vater Association
Occipital encephalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial han... ORPHA:887
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus OMIM:619111
Opsismodysplasia
Short palm, Short metacarpal, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces... OMIM:258480
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Bowing of the legs, Pectus excavatum, Coxa valga, Coxa vara, Bell-shaped tho... OMIM:619131
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Short neck, Partial agenesis of the corpus callosum, Delayed epiphy... OMIM:210710
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Metaphyseal widening, Multiple joint dislocation, Pectus carinatum, Arachnodactyly, Large joint d... ORPHA:536467
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... ORPHA:3082
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... OMIM:271600
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpal bones, Tri... OMIM:271665
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Shprintzen-Goldberg Craniosynostosis Syndrome
Arachnodactyly, Genu recurvatum, Craniosynostosis, Microcephaly, Lateral clavicle hook, Pectus ex... OMIM:182212
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... OMIM:113500
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... ORPHA:85167
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Abnormally ossified vertebrae, Missing ribs, Hydrocephalus, Abnormal rib m... ORPHA:3301
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Intrauterine growth retardation, Abnormal rib morphology, M... ORPHA:2772
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Kyphoscoliosis, Coxa valga, Pectus ex... OMIM:617425
Cat-Eye Syndrome
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology ORPHA:195
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow chest, Narro... OMIM:250220
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tapered finger, Flat capital femoral epiphysis, Flattened epiphysis, Platyspondyly, Short femoral... ORPHA:157965
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Pectus exca... OMIM:618150
Joubert Syndrome 22
Molar tooth sign on MRI, Intrauterine growth retardation OMIM:615665
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Preaxial hand pol... ORPHA:261318
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, Abnormal rib morphology, Abnormality of th... ORPHA:77301
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... OMIM:114290
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Genu valgum, Irregular vertebral endplates, Platyspondyly, Abnormal epiphys... ORPHA:250984
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Flared metaphysis, Hypoplastic pubic bone, Platyspondyly, Small ep... ORPHA:93346
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI OMIM:612285
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Relative macrocephaly, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Metaphyseal widenin... OMIM:612813
Osteogenesis Imperfecta, Type X
Relative macrocephaly, Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the lon... OMIM:613848
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Wide cranial sutures, Short femur, Metaphyseal spurs, Patent ductus ... OMIM:618188
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Platy... OMIM:619598
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... OMIM:271640
Alagille Syndrome
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral... ORPHA:52
Melnick-Needles Syndrome
Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, Abnormal rib ... ORPHA:2484
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Beaded ribs, Platyspondyly, ... OMIM:616229
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Thickened ribs, Craniosynostosis, Short neck, Pectus excavatum, Pect... ORPHA:309282
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Spatulate ribs, T2 hypointense basal ganglia, Diffuse white matter abno... ORPHA:79255
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Lowry-Wood Syndrome
Epiphyseal dysplasia, Brachydactyly, Microcephaly, Elbow dislocation, Coxa vara, Aplasia/Hypoplas... ORPHA:1824
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Pectus excavatum, Kyphosis, Irregular femoral epiphysis, Osteoarthri... OMIM:108300
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Renpenning Syndrome
Microcephaly, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly ... ORPHA:3242
Achondrogenesis, Type Ia
Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sa... OMIM:200600
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Hemivertebrae, Knee flexi... OMIM:151050
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th metacarpal, Broad thum... OMIM:619638
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bod... ORPHA:1486
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Premature osteoa... OMIM:215150
Schwartz-Jampel Syndrome
Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vertebrae... ORPHA:800
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, Craniosynost... OMIM:616723
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, ... OMIM:157800
Geroderma Osteodysplastica
Vertebral compression fracture, Hip dislocation, Abnormal form of the vertebral bodies, Pectus ca... ORPHA:2078
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Short metatarsal, Coxa vara, Deformed humeral heads, Platyspondy... OMIM:601438
Trisomy 18
Camptodactyly of finger, Spina bifida, Microcephaly, Postaxial hand polydactyly, Anencephaly, Abn... ORPHA:3380
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... ORPHA:2759
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Intrauterine growth ret... ORPHA:2145
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis, Abnormal epiphysis morpho... ORPHA:90653
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Hydrocephalus, Abnormality of ... ORPHA:93473
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... ORPHA:958
Atelosteogenesis Type I
Joint dislocation, Short femur, Abnormal ossification involving the femoral head and neck, Abnorm... ORPHA:1190
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... ORPHA:2021
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sc... ORPHA:508533
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... ORPHA:3258
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Brachyolmia Type 2
Platyspondyly OMIM:613678
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand po... OMIM:263520
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Relative macrocephaly, Brachydactyly, Lumbar hyperlordosis, Kyphoscoliosis, Flat capital femoral ... OMIM:271510
Morquio Syndrome C
Platyspondyly OMIM:252300
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Metaphyseal widening, Abnormal finger morphology, Pectus carinatum, Abnormal v... ORPHA:536471
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, Abnormal... ORPHA:666
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Bruck Syndrome 2
Elbow flexion contracture, Femoral bowing, Knee flexion contracture, Pectus carinatum, Platyspond... OMIM:609220
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Microcephaly, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morphol... ORPHA:3068
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Patent ductus arteriosus, Abnormal rib morphology, Abnormal... ORPHA:3378
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, U... OMIM:617952
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Brachydactyly OMIM:602361
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Microcephaly, Postaxial hand polydactyly, Patent ductus arteriosus, Abnormal rib morphology, Abno... ORPHA:2519
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
Hypophosphatasia
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap... ORPHA:436
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow anky... ORPHA:95699
Joubert Syndrome 32
Molar tooth sign on MRI OMIM:617757
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Pectus excavatum, Hypoplastic ili... OMIM:615349
Fetal Akinesia Deformation Sequence 1
Hip contracture, Absent septum pellucidum, Rocker bottom foot, Short neck, Camptodactyly of finge... OMIM:208150
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Cerebral calcification, Decreased r... ORPHA:1855
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Abnormal rib morphology, ... ORPHA:2970
Spondyloenchondrodysplasia With Immune Dysregulation
Barrel-shaped chest, Metaphyseal dysplasia, Cerebral calcification, Lumbar hyperlordosis, Kyphosc... OMIM:607944
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Small proximal ti... ORPHA:96334
Hall-Riggs Syndrome
Microcephaly, Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Abnormal metaphysis morpho... ORPHA:2107
Osteopathia Striata With Cranial Sclerosis
Arachnodactyly, Delayed closure of the anterior fontanelle, Pectus excavatum, Hydrocephalus, Part... OMIM:300373
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ... OMIM:610915
Geroderma Osteodysplasticum
Hyperextensibility of the finger joints, Kyphoscoliosis, Microcephaly, Vertebral compression frac... OMIM:231070
Gm1-Gangliosidosis, Type Ii
Coxa valga, Patent ductus arteriosus, Cerebral atrophy, Hypoplastic vertebral bodies, Platyspondy... OMIM:230600
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Occipital encephalocele, Anencephaly OMIM:614175
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis ORPHA:1345
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Macrocephal... OMIM:601356
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... OMIM:601216
Slc35A2-Cdg
Intrauterine growth retardation, Abnormal midbrain morphology, Atrophy/Degeneration affecting the... ORPHA:356961
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly ORPHA:71267
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... OMIM:609162
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:618161
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Hypoplasia of the brainstem, Molar tooth sign on MRI OMIM:614424
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Kyphosis, Patent ductus arteriosus, Abnormal form of the ... ORPHA:354
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Spina bifida, Microcephaly, Meningocele, Abnormal ri... ORPHA:991
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... OMIM:613091
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Patent ductus arte... OMIM:192350
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Aplasia/Hypo... ORPHA:2167
Ollier Disease
Platyspondyly, Abnormal metaphysis morphology ORPHA:296
Joubert Syndrome 6
Molar tooth sign on MRI, Hypoplasia of the brainstem, Thickened superior cerebellar peduncle, Elo... OMIM:610688
Dysosteosclerosis
Cerebral calcification, Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyl... ORPHA:1782
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort... ORPHA:488434
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Patent ductus arteriosus, Posterior rib fusion, Butterfly vertebrae OMIM:265380
Occipital Horn Syndrome
Cerebral calcification, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Lar... ORPHA:198
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:608629
Bruck Syndrome
Bowing of the long bones, Kyphosis, Platyspondyly, Scoliosis, Wormian bones, Pterygium ORPHA:2771
Joubert Syndrome 2
Encephalocele, Brainstem dysplasia, Hydrocephalus, Hypoplasia of the brainstem, Molar tooth sign ... OMIM:608091
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Microcephaly, Hypoplastic iliac wing, Short toe, P... OMIM:139210
Spondylo-Ocular Syndrome
Platyspondyly, Abnormal intervertebral disk morphology, Thoracic kyphosis, Short neck ORPHA:85194
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis, Later... OMIM:242900
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Dextrocardia
Hydrocephalus, Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Reduced cerebral white matter volume, Short neck, Irregular vertebral endplates, Posterior scallo... OMIM:610442
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Occipital Horn Syndrome
Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad clavicles, Pectu... OMIM:304150
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Aplastic clavicle, Short thorax, Flared metaphysis, P... ORPHA:50945
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Narrow pelvis bon... ORPHA:96061
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodies, Holoprosencephaly... ORPHA:818
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Wide capital femoral epiphyses, Ovoid vertebral bodies, Short neck, Abnorma... ORPHA:1830
Marshall Syndrome
Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft... OMIM:154780
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Molar tooth sign on MRI ORPHA:2318
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Molar tooth sign on MRI ORPHA:220497
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin... ORPHA:83
Osteoglophonic Dysplasia
Short metacarpal, Hypoplastic scapulae, Bowing of the long bones, Camptodactyly of finger, Cranio... OMIM:166250
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... ORPHA:2215
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Femur fracture, Hydrocephalus, Lateral ventricle dilatation, Increased he... OMIM:612301
Joubert Syndrome 37
Molar tooth sign on MRI OMIM:619185
Sponastrime Dysplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... ORPHA:93357
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Hydrocephalus,... ORPHA:581
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Porencephalic cyst, Elbow fl... OMIM:612394
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... ORPHA:249
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Molar tooth sign on MRI ORPHA:220493
Fontaine Progeroid Syndrome
Syndactyly, Cerebellar vermis hypoplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Patent d... OMIM:612289
Campomelia, Cumming Type
Abnormally ossified vertebrae, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib... ORPHA:1318
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... ORPHA:2769
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Delayed closure of the anterior fontan... OMIM:303600
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Molar tooth sign on MRI OMIM:216360
Myhre Syndrome
Brachydactyly, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis morphology, Short palm,... ORPHA:2588
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyseal widening, Tibial bowing,... OMIM:259770
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... OMIM:618641
Charge Syndrome
Microcephaly, Aqueductal stenosis, Abnormal tibia morphology, Patent ductus arteriosus, Abnormal ... ORPHA:138
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... ORPHA:373
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Craniosynostosis, Hydrocephalus, Abnormal rib morphology, Narrow chest,... ORPHA:667
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Macrocephaly, Diaphyseal dys... OMIM:619727
Joubert Syndrome 1
Brainstem dysplasia, Occipital myelomeningocele, Hypoplasia of the brainstem, Molar tooth sign on... OMIM:213300
Pyknoachondrogenesis
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif... ORPHA:3003
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Scoliosis, Femoral bowing OMIM:126550
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipital menin... OMIM:616546
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Cerebral white matter atrophy, Short neck, Abnormal globus pallidus morphology, Metaphyseal widen... ORPHA:99646
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele OMIM:619562
Radio-Renal Syndrome
Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow, Abnormal... ORPHA:3015
Spondyloocular Syndrome
Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Pectus carinatum, Shield... OMIM:605822
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Pectus carinatum, Vertebral segmentation defect, Narrow greater sci... OMIM:312870
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology ORPHA:314621
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosi... OMIM:225400
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Anterior rib cupping, Horizontal inferior border of scapula, Abnormal pelvic girdle bone morpholo... OMIM:102700
Japanese Encephalitis
Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology ORPHA:79139
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology ORPHA:444072
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Popliteal pterygium, Scol... ORPHA:1300
Charge Syndrome
Hypoplasia of the ulna, Decreased response to growth hormone stimulation test, Down-sloping shoul... OMIM:214800
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Kyphoscoliosis, Hip dislocation, Platyspondyly, Vertebral compression fracture, Th... OMIM:616507
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Abnormal rib morphology, Hip dislocation, Genu valgum, Arthritis, Platyspondyly, Joint ... ORPHA:534
Monosomy 9P
Proximal placement of thumb, Short neck, Microcephaly, Abnormality of the tarsal bones, Postaxial... ORPHA:261112
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Molar tooth sign on MRI, Occipital encephalocele, Elongated superior cerebellar peduncle, Meningo... ORPHA:397715
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal pons morphology, Abnormal medulla oblongata mor... ORPHA:68
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Microcephaly, Elbow dislocation, Craniosynostosis, Pa... ORPHA:2554
Stickler Syndrome
Joint dislocation, Arachnodactyly, Protrusio acetabuli, Kyphosis, Osteoarthritis, Hip dislocation... ORPHA:828
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:619306
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnormal rib morphology, Ov... ORPHA:3404
Arima Syndrome
Molar tooth sign on MRI, Occipital meningocele, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:243910
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Occipital meningocele OMIM:277170
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Abnormal pelvis bone morphology, Absent septum pellucidum, Camptod... ORPHA:2273
Joubert Syndrome 5
Molar tooth sign on MRI, Occipital encephalocele, Thickened superior cerebellar peduncle OMIM:610188
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Scoliosis, Clinodac... OMIM:619269
Joubert Syndrome 38
Molar tooth sign on MRI OMIM:619476
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI ORPHA:2754
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Int... OMIM:249000
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Abnormal hip bone morphology... ORPHA:2907
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Kyphosis, Hip dislocation, Periventricular cysts, Genu v... OMIM:309000
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI OMIM:619479
Wilson Disease
Face of the giant panda sign OMIM:277900
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... OMIM:118450
Aspartylglucosaminuria
Microcephaly, Kyphosis, Cerebral atrophy, Platyspondyly, Spondylolysis, Scoliosis, Beaking of ver... OMIM:208400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Orofaciodigital Syndrome Xiv
Molar tooth sign on MRI, Occipital encephalocele, Holoprosencephaly OMIM:615948
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Short ... ORPHA:2908
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI ORPHA:434179
Pmm2-Cdg
Cerebellar vermis hypoplasia, Elevated circulating growth hormone concentration, Kyphoscoliosis, ... ORPHA:79318

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 Ssbp3

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 Ssbp3.

No publications found that use IMPC mice or data for Ssbp3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ssbp3tm210400(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ssbp3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ssbp3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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