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Gene: Sf3b4 MGI:109580

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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:
splicing factor 3b, subunit 4
Synonyms:
SF3b49,  Sap49,  49kDa

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 Sf3b4 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.

The table below shows human diseases associated to Sf3b4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acrofacial Dysostosis, Rodríguez Type
Sprengel anomaly, Abnormal form of the vertebral bodies ORPHA:1788
Acrofacial Dysostosis 1, Nager Type
Hypoplasia of first ribs, Scoliosis, Polymicrogyria, Abnormality of the cervical spine, Midface r... OMIM:154400
Nager Syndrome
ORPHA:245

The table below shows human diseases predicted to be associated to Sf3b4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Kleefstra Syndrome 2
Plagiocephaly, Kyphosis, Midface retrusion, Scoliosis OMIM:617768
Craniosynostosis 6
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... OMIM:616602
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Pectus excavatum, Kyphosis, Plagiocephaly, Cervical ribs ORPHA:77300
Fibrochondrogenesis
Hypoplastic scapulae, Short neck, Wide anterior fontanel, Abnormal rib morphology, Abnormal form ... ORPHA:2021
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Frontal bossing, Down-sloping shoulders, Craniosynostosis, Pectus e... ORPHA:1520
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cervical platyspondyly, Plagiocephaly, Scoliosis, Polymicrogyria, Midface retrusion OMIM:618731
Anauxetic Dysplasia 3
Thoracolumbar kyphoscoliosis, Pectus excavatum, Wide anterior fontanel, Plagiocephaly, Platyspond... OMIM:618853
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Ovoid vertebral bodies, Short neck, Wide anterior fontanel, Brachycephaly, Platy... ORPHA:163649
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly, Thoracolumbar scoliosis OMIM:607313
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Scoliosis, Midface retrusion OMIM:618577
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Scoliosis, Pectus carinatum ORPHA:3268
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of th... ORPHA:2790
Band Heterotopia
Plagiocephaly, Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Kyphosis, Brachycephaly, Dolichocephaly OMIM:615433
Intellectual Developmental Disorder, Autosomal Dominant 66
Pectus excavatum, Brachycephaly, Pectus carinatum, Plagiocephaly, Scoliosis OMIM:619910
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Congenital Muscular Dystrophy, Fukuyama Type
Pectus excavatum, Brachycephaly, Plagiocephaly, Dolichocephaly, Type II lissencephaly ORPHA:272
Sporadic Fetal Brain Disruption Sequence
Prominent occiput, Plagiocephaly ORPHA:1665
Cebalid Syndrome
Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Polymicrogyria, Mid... OMIM:618774
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Scaphocephaly, Scoliosis ORPHA:1143
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Frontal bossing, Brachycephaly, Plagiocephaly, Scoliosis, Dolichocephaly, Thoracic hemivertebrae,... OMIM:619721
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... OMIM:609813
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly, Scoliosis OMIM:617481
Coffin-Siris Syndrome 6
Pectus excavatum, Frontal bossing, Plagiocephaly, Kyphoscoliosis OMIM:617808
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies ORPHA:1354
Osteogenesis Imperfecta, Type Xx
Kyphoscoliosis, Brachycephaly, Plagiocephaly, Asymmetry of the thorax, Narrow chest, Vertebral co... OMIM:618644
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Frontal bossing, Short neck, Brachycephaly, Plagiocephaly, Scoliosis OMIM:616801
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Plagiocephaly, Frontal polymicrogyria, Pachygyria OMIM:614563
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Malan Overgrowth Syndrome
Frontal bossing, Pectus excavatum, Scaphocephaly, Plagiocephaly, Scoliosis ORPHA:420179
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Thin ribs, Plagiocephaly, Decreased calvarial ossification, Trigonocephaly OMIM:618265
Global Developmental Delay With Or Without Impaired Intellectual Development
Pectus excavatum, Frontal bossing, Plagiocephaly OMIM:618330
Prune1-Related Neurological Syndrome
Plagiocephaly, Scoliosis ORPHA:544469
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... ORPHA:1801
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Short neck OMIM:618821
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Pectus excavatum, Plagiocephaly, Brachycephaly OMIM:618603
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Frontal bossing, Aplastic clavicle, Parietal foramina, Kyphosis, Wi... ORPHA:85199
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Frontal bossing, Brachycephaly, Plagiocephaly, Scoliosis, Midface retrusion OMIM:618430
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Frontal bossing, Brachycephaly, Short neck OMIM:616789
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Plagiocephaly, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta... OMIM:619227
Hogue-Janssen Syndrome 2
Pectus excavatum, Plagiocephaly, Scoliosis OMIM:616362
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly, Kyphoscoliosis ORPHA:96190
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Bresek Syndrome
Plagiocephaly, Hemivertebrae, Scoliosis ORPHA:85284
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Polymicrogyria, Scoliosis OMIM:617751
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Decreased calvarial oss... OMIM:259440
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Prominent occiput, Plagiocephaly, Brachycephaly, Dolichocephaly OMIM:618672
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Holoprosencephaly-Craniosynostosis Syndrome
Hypoplastic vertebral bodies, Plagiocephaly, Brachycephaly, Craniosynostosis ORPHA:2163
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Frontal bossing, Cloverleaf skull, Short neck, Abnormal rib morphol... ORPHA:93267
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Polymicrogyria, Scoliosis ORPHA:500159
Fibrochondrogenesis 2
Frontal bossing, Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Midface retrusion, T... OMIM:614524
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Muenke Syndrome
Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Midface retrusion OMIM:602849
Craniodiaphyseal Dysplasia
Frontal bossing, Craniofacial hyperostosis, Abnormal rib morphology ORPHA:1513
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the ... ORPHA:2635
Summitt Syndrome
Plagiocephaly, Craniosynostosis ORPHA:3210
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Midface retrusion, Brachycephaly, Short neck ORPHA:369891
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, Flat occiput, Scoliosis, Pectus carinatum OMIM:619383
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly ORPHA:94066
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Frontal bossing, Wide anterior fontanel, Plagiocephaly, Scoliosis, Dolichocephaly, Midface retrusion ORPHA:457279
Intellectual Developmental Disorder, Autosomal Dominant 67
Posterior plagiocephaly OMIM:619927
Dihydropyrimidinase Deficiency
Plagiocephaly OMIM:222748
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Frontal bossing, Scoliosis, Short neck ORPHA:371364
Pentasomy X
Plagiocephaly ORPHA:11
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Wide anterior fontanel, Plagiocephaly, Short clavicles... OMIM:620099
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Kyphosis, Abnormal rib morphology, Plagiocephaly, Scoliosis, Dolichocephaly, Mi... ORPHA:2215
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Plagiocephaly, Scoliosis, Periventricular heterotopia OMIM:619833
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Prominent occiput, Supernumerary ribs, Six lumbar vertebrae, ... OMIM:619122
Atelosteogenesis Type Ii
Thoracolumbar kyphoscoliosis, Cervical kyphosis, Short neck, Bell-shaped thorax, Plagiocephaly, N... ORPHA:56304
Blepharophimosis-Impaired Intellectual Development Syndrome
Plagiocephaly, Frontal bossing, Scoliosis OMIM:619293
Trisomy 20P
Frontal bossing, Short neck, Kyphosis, Brachycephaly, Abnormal form of the vertebral bodies, Plag... ORPHA:261318
Noonan Syndrome 13
Plagiocephaly, Enlarged thorax, Scoliosis, Short neck OMIM:619087
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Plagiocephaly, Supernumerary ribs, Scoliosis, Bifid ri... ORPHA:50
Lessel-Kreienkamp Syndrome
Plagiocephaly, Frontal bossing, Scaphocephaly OMIM:619149
Developmental And Epileptic Encephalopathy 65
Plagiocephaly OMIM:618008
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Dolichocephaly, Hemivertebrae, Rib f... OMIM:271520
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Thoracic scoliosis, Flat occiput, Kyphoscoliosis, Simplified gyral pattern, Plagiocephaly, Lissen... ORPHA:300570
Developmental And Epileptic Encephalopathy 1
Plagiocephaly OMIM:308350
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly OMIM:615516
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Turricephaly, Short neck, Pectus excavatum, Plagiocephaly, Scoliosis, Midface retrusion, Cervical... OMIM:620224
6Q25 Microdeletion Syndrome
Plagiocephaly ORPHA:251056
Ritscher-Schinzel Syndrome 4
Plagiocephaly, Brachycephaly, Scoliosis OMIM:619435
Linear Nevus Sebaceus Syndrome
Frontal bossing, Prominent occiput, Plagiocephaly, Vertebral segmentation defect, Biparietal narr... ORPHA:2612
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Osteogenesis Imperfecta, Type Iii
Frontal bossing, Kyphosis, Wide anterior fontanel, Thin ribs, Decreased calvarial ossification, S... OMIM:259420
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... ORPHA:2522
Mosaic Trisomy 14
Frontal bossing, Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Hyperphosphatasia-Intellectual Disability Syndrome
Short neck, Pectus excavatum, Brachycephaly, Plagiocephaly, Scoliosis, Abnormal parietal bone mor... ORPHA:247262
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Brachycephaly OMIM:618862
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Frontal bossing, Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Craniosynosto... ORPHA:536467
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Pectus excavatum, Kyphosis, Abnormal form of the vertebral bodies, Plagiocephaly, Irregular verte... ORPHA:3042
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Pectus excavatum, Wide anterior fontanel, Plagiocephaly, Scoliosis OMIM:618548
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly OMIM:618089
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Perisylvian polymicrogyria, Abnormal vertebral morphology ORPHA:280195
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short neck, Kyphosis, Sh... ORPHA:2311
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Prominent occiput, Spina bifida occulta, Scoliosis, Plagiocephaly OMIM:617360
Saethre-Chotzen Syndrome
Craniosynostosis, Hyperlordosis, Brachycephaly, Abnormal form of the vertebral bodies, Plagioceph... ORPHA:794
Poland Syndrome
Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly OMIM:173800
Muenke Syndrome
Plagiocephaly, Coronal craniosynostosis, Brachycephaly ORPHA:53271
Gapo Syndrome
Frontal bossing, Wide anterior fontanel, Bell-shaped thorax, Plagiocephaly, Scoliosis OMIM:230740
6Q Terminal Deletion Syndrome
Aplasia/Hypoplasia of the ribs, Short neck, Periventricular heterotopia, Abnormality of neuronal ... ORPHA:75857
Galloway-Mowat Syndrome 4
Plagiocephaly, Polymicrogyria OMIM:617730
Achondrogenesis Type 1B
Frontal bossing, Short neck, Short thorax, Abnormal rib morphology, Narrow chest ORPHA:93298
Opitz-Kaveggia Syndrome
Frontal bossing, Sacral dimple, Lumbar hyperlordosis, Short neck, Wide anterior fontanel, Plagioc... OMIM:305450
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology, Dolichocephaly ORPHA:2475
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck ORPHA:2234
Grant Syndrome
Frontal bossing, Abnormal rib morphology, Brachycephaly, Narrow chest, Sprengel anomaly, Abnormal... ORPHA:2097
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Plagiocephaly, Macrogyria, Simplified gyral pattern, Scoliosis OMIM:300749
Fg Syndrome Type 1
Sacral dimple, Craniosynostosis, Prominent occiput, Plagiocephaly, Abnormal sternum morphology ORPHA:93932
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ribs, Flaring ... ORPHA:168549
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Pectus excavatum, Plagiocephaly, Scoliosis, Pectus carinatum ORPHA:496641
Chromosome 17P13.1 Deletion Syndrome
Sacral dimple, Turricephaly, Short neck, Brachycephaly, Plagiocephaly, Scoliosis OMIM:613776
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Plagiocephaly, Kyphosis, Brachycephaly, Scoliosis ORPHA:500055
Intellectual Disability-Strabismus Syndrome
Plagiocephaly, Short neck ORPHA:363528
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Periventricular nodular heterotopia OMIM:619188
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Cole-Carpenter Syndrome
Frontal bossing, Turricephaly, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral ... ORPHA:2050
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Plagiocephaly, Frontal bossing, Scoliosis OMIM:617193
Houge-Janssens Syndrome 3
Plagiocephaly, Frontal bossing OMIM:618354
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Plagiocephaly, Frontal bossing, Midface retrusion OMIM:619720
Raine Syndrome
Short neck, Pectus excavatum, Brachycephaly, Plagiocephaly, Brachyturricephaly, Midface retrusion... OMIM:259775
Robinow-Sorauf Syndrome
Plagiocephaly, Pansynostosis, Craniosynostosis OMIM:180750
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Frontal bossing, Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Kyphoscoliosis, Shor... ORPHA:96334
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly, Abnormality of neuronal migration ORPHA:2063
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Dolichocephaly, N... OMIM:618395
Diastrophic Dysplasia
Abnormal clavicle morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:628
Developmental And Epileptic Encephalopathy 110
Posterior plagiocephaly OMIM:620149
7Q31 Microdeletion Syndrome
Plagiocephaly, Scoliosis ORPHA:251061
Cooper-Jabs Syndrome
Frontal bossing, Missing ribs, Abnormal rib morphology, Brachycephaly, Scoliosis ORPHA:1488
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Au-Kline Syndrome
Sacral dimple, Thoracolumbar scoliosis, Sagittal craniosynostosis, Craniosynostosis, Pectus excav... OMIM:616580
3M Syndrome
Frontal bossing, Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosi... ORPHA:2616
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Pectus excavatum, Plagiocephaly, Scoliosis, Dolichocephaly ORPHA:1101
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Craniosynostosis, Plagiocephaly, Gray matter heterotopia, Vertebral segmentation defect, Scoliosis ORPHA:453499
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Plagiocephaly, Scoliosis OMIM:615471
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Vertebral arch anomaly, Thin calvarium, Broad ribs, Parietal bossing ORPHA:85184
Cole-Carpenter Syndrome 2
Frontal bossing, Turricephaly, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal c... OMIM:616294
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Bicoronal synostosis, Kyphosis, Anterior plagiocephaly, Scoliosis OMIM:619718
Alkuraya-Kucinskas Syndrome
Plagiocephaly, Gray matter heterotopia, Lissencephaly OMIM:617822
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Frontal bossing, Lumbar hyperlordosis, Pectus excavatum, Wide anterior f... OMIM:618371
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... ORPHA:2180
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Brachycephaly, Midface retrusion ORPHA:261652
Trichohepatoneurodevelopmental Syndrome
Pectus excavatum, Brachycephaly, Plagiocephaly, Narrow chest, Scoliosis, Midface retrusion OMIM:618268
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Plagiocephaly, Frontal bossing, Sacral dimple, Turricephaly OMIM:613603
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Frontal bossing, Kyphosis, Plagiocephaly, Scoliosis, Dolichocephaly OMIM:619005
Aymé-Gripp Syndrome
Craniosynostosis, Abnormal thorax morphology, Brachycephaly, Plagiocephaly, Supernumerary ribs, S... ORPHA:1272
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:617296
Cerebrofaciothoracic Dysplasia
Short neck, Hemivertebrae, Rib fusion, Brachycephaly, Vertebral segmentation defect, Narrow chest... ORPHA:1394
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Frontal bossing, Abnormal rib morphology ORPHA:1506
Cranioectodermal Dysplasia 2
Frontal bossing, Cloverleaf skull, Craniosynostosis, Short neck, Pectus excavatum, Plagiocephaly,... OMIM:613610
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Wafer-thin platyspondyly, Thin ri... OMIM:151210
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Frontal bossing, Platyspondyly, Thin ribs OMIM:300863
Osteogenesis Imperfecta, Type Ii
Beaded ribs, Absent ossification of calvaria, Thin ribs, Bell-shaped thorax, Platyspondyly, Thora... OMIM:166210
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Plagiocephaly, Frontal bossing, Brachycephaly, Short neck OMIM:610759
Fibrochondrogenesis 1
Frontal bossing, Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Wide ant... OMIM:228520
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1836
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Abnormal rib morphology, Abnormality of neuronal migration ORPHA:2772
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Left unicoronal synostosis, Plagiocephaly, Anterior plagiocephaly OMIM:614749
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Frontal bossing, Brachycephaly, Short ... OMIM:200610
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Vertebral segmentation defect, S... ORPHA:1988
Duane Retraction Syndrome
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Plagiocephaly, Abnormal ... ORPHA:233
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs ORPHA:2759
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly OMIM:605282
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Dolichocephaly, Beaking of vertebr... OMIM:252930
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Developmental And Epileptic Encephalopathy 84
Plagiocephaly OMIM:618792
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Frontal bossing, Short neck, Kyphosis, Abnormal rib morphology, Pectus carinatum ORPHA:3082
Melnick-Needles Syndrome
Frontal bossing, Craniofacial hyperostosis, Short thorax, Abnormal rib morphology, Narrow chest, ... ORPHA:2484
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Plagiocephaly OMIM:616579
Carey-Fineman-Ziter Syndrome 1
Plagiocephaly, Scoliosis, Spinal rigidity OMIM:254940
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
9Q33.3Q34.11 Microdeletion Syndrome
Plagiocephaly, Brachycephaly, Short neck ORPHA:495818
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Frontal bossing, Brachycephaly, Plagiocephaly, Hypoplastic coccygeal vertebrae, Midface retrusion OMIM:619512
Achondrogenesis, Type Ia
Barrel-shaped chest, Turricephaly, Hypoplastic sacrum, Hypoplastic scapulae, Beaded ribs, Short n... OMIM:200600
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Plagiocephaly, Scoliosis, Pectus carinatum OMIM:620083
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Craniosynostosis ORPHA:457193
Craniosynostosis, Herrmann-Opitz Type
Turricephaly, Abnormal rib morphology, Brachycephaly, Craniosynostosis ORPHA:2145
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Plagiocephaly, Midface retrusion OMIM:239300
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ... OMIM:619698
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly OMIM:619680
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Cdags Syndrome
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Kyphosis, Brachycephaly, Short rib... OMIM:603116
Frontonasal Dysplasia 2
Craniosynostosis, Parietal foramina, Brachycephaly, Anterior plagiocephaly, Calvarial skull defect OMIM:613451
Intellectual Developmental Disorder, Autosomal Dominant 58
Plagiocephaly OMIM:618106
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Abnormal rib morphology, Pectus carinatum ORPHA:93351
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Plagiocephaly, Brachycephaly, Scoliosis OMIM:301072
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Kyphosis, Abnormal rib mo... ORPHA:392
Osteogenesis Imperfecta, Type Xvi
Multiple rib fractures, Beaded ribs, Platyspondyly, Decreased calvarial ossification, Narrow ches... OMIM:616229
Alg12-Cdg
Posterior plagiocephaly, Pachygyria, Midface retrusion, Scoliosis ORPHA:79324
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Pectus excavatum, Plagiocephaly, Scoliosis ORPHA:457284
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Kyphosis, Wide anterior fontanel, Thin ribs, Platyspondyly, Decreased calvar... OMIM:610915
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Spinal canal stenosis... ORPHA:582
Juberg-Hayward Syndrome
Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis ORPHA:2319
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Thin ribs, Platyspondyly, Decreased calvarial ossific... OMIM:613848
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Dysosteosclerosis
Frontal bossing, Sclerotic scapulae, Increased intervertebral space, Hypoplastic vertebral bodies... OMIM:224300
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Craniofacial hyperostosis, Abnormal rib morphology, Hyperlordosis ORPHA:3068
Neurofaciodigitorenal Syndrome
Pectus excavatum, Plagiocephaly, Brachycephaly ORPHA:2673
Spondylometaphyseal Dysplasia, Sedaghatian Type
Turricephaly, Abnormal scapula morphology, Abnormal rib morphology, Platyspondyly, Narrow chest, ... ORPHA:93317
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Turricephaly ORPHA:2167
Chromosome 14Q11-Q22 Deletion Syndrome
Plagiocephaly, Pachygyria OMIM:613457
Chilton-Okur-Chung Neurodevelopmental Syndrome
Frontal bossing, Pectus excavatum, Plagiocephaly, Posterior plagiocephaly, Asymmetry of the thora... OMIM:619841
Alagille Syndrome
Frontal bossing, Abnormal rib morphology, Brachycephaly, Abnormal form of the vertebral bodies, V... ORPHA:52
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly OMIM:615656
Cleidocranial Dysplasia
Frontal bossing, Hypoplastic scapulae, Down-sloping shoulders, Abnormal sacrum morphology, Abnorm... ORPHA:1452
Hypophosphatasia
Abnormal rib morphology, Narrow chest, Craniosynostosis ORPHA:436
Prune Belly Syndrome
Pectus excavatum, Vertebral segmentation defect, Abnormal rib morphology, Scoliosis ORPHA:2970
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Dolichocephaly ORPHA:1318
Abnormal Hair, Joint Laxity, And Developmental Delay
Plagiocephaly OMIM:261990
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Prominent floating ribs, Brachycephaly, Plagiocephaly, Thickened calvaria ORPHA:2785
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Plagiocephaly, Frontal bossing, Scoliosis, Dolichocephaly OMIM:619480
Axial Mesodermal Dysplasia Spectrum
Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebr... ORPHA:1834
Intellectual Developmental Disorder, Autosomal Dominant 53
Posterior plagiocephaly, Brachycephaly OMIM:617798
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Doors Syndrome
11 pairs of ribs, Frontal bossing, Sagittal craniosynostosis, Hemivertebrae, Brachycephaly, Promi... ORPHA:79500
Trisomy 13
Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis, Calvarial skull defect ORPHA:3378
Congenital Fibrosis Of Extraocular Muscles
Plagiocephaly, Polymicrogyria ORPHA:45358
Arboleda-Tham Syndrome
Frontal bossing, Craniosynostosis, Pectus excavatum, Plagiocephaly, Long thorax, Narrow chest, Mi... OMIM:616268
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Plagiocephaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral morphology ORPHA:444077
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Craniosynostosis, Abnormal rib morphology, Brachycephaly, Narrow c... ORPHA:83
Phaver Syndrome
Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies ORPHA:2876
Mosaic Trisomy 8
Frontal bossing, Short neck, Abnormal rib morphology, Vertebral segmentation defect, Narrow chest... ORPHA:96061
Joubert Syndrome 1
Plagiocephaly OMIM:213300
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Frontal bossing, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platysp... OMIM:618019
Faundes-Banka Syndrome
Plagiocephaly, Frontal bossing, Lumbar hemivertebrae OMIM:619376
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Frontal bossing, Abnormal cortical gyration, Aplastic clavicle ORPHA:2538
Faciocardiorenal Syndrome
Plagiocephaly ORPHA:1973
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Pectus excavatum, Frontal bossing, Plagiocephaly, Brachycephaly OMIM:280000
Helsmoortel-Van Der Aa Syndrome
Hyperlordosis, Pectus excavatum, Posterior plagiocephaly, Scoliosis, Midface retrusion OMIM:615873
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Kyphosis, Abnormal curvature of the vertebral column, Plagiocephaly, Scoliosis, Dolich... OMIM:619475
Adnp Syndrome
Trigonocephaly, Plagiocephaly, Brachycephaly ORPHA:404448
Trichorhinophalangeal Syndrome, Type Ii
Scapular winging, Thoracolumbar scoliosis, Pectus excavatum, Plagiocephaly, Rib exostoses, Lumbar... OMIM:150230
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Cenani-Lenz Syndrome
Frontal bossing, Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3258
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology ORPHA:3242
Coffin-Siris Syndrome 1
Frontal bossing, Sacral dimple, Kyphosis, Brachycephaly, Plagiocephaly, Short sternum, Scoliosis,... OMIM:135900
Bent Bone Dysplasia Syndrome 2
Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial ossification, ... OMIM:620076
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Brachycephaly, Pectus carinatum, Platyspondyly, Thoracic dysplasia, Narrow... OMIM:263520
Aicardi-Goutières Syndrome
Plagiocephaly, Scoliosis ORPHA:51
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Frontal bossing, Short neck, Lateral clavicle hook, Wide anterior fontanel, Brachycephaly, Decrea... OMIM:617925
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Ring Chromosome 7 Syndrome
Plagiocephaly, Lumbar kyphoscoliosis, Brachycephaly ORPHA:1449
Hurler Syndrome
Abnormal clavicle morphology, Frontal bossing, Short neck, Abnormal rib morphology, Spinal canal ... ORPHA:93473
3Q29 Microdeletion Syndrome
Pectus carinatum, Pectus excavatum, Six lumbar vertebrae ORPHA:65286
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag... ORPHA:175
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Plagiocephaly, Frontal bossing, Thickened calvaria, Kyphoscoliosis ORPHA:466791
Oculocerebrocutaneous Syndrome
Polymicrogyria, Abnormal rib morphology, Calvarial skull defect, Missing ribs ORPHA:1647
Postaxial Acrofacial Dysostosis
Pectus excavatum, Supernumerary vertebrae OMIM:263750
Pyknoachondrogenesis
Craniofacial hyperostosis, Short thorax, Poorly ossified vertebrae, Enlarged thorax, Short ribs, ... ORPHA:3003
Saethre-Chotzen Syndrome
Parietal foramina, Oxycephaly, Brachycephaly, Plagiocephaly, Skull asymmetry, Lambdoidal craniosy... OMIM:101400
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:2769
Degcags Syndrome
Plagiocephaly, Sacral dimple, Craniosynostosis OMIM:619488
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyphosis, Hemivertebrae, Abnormal ri... ORPHA:2911
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Plagiocephaly, Craniosynostosis ORPHA:1521
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Frontal bossing, Short neck, Scaphocephaly, Brachycephaly, Posterior plagiocephaly, Dolichocephaly OMIM:620330
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Pectus excavatum, Wide anterior fontanel, Decreased calvarial ossificatio... OMIM:610682
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Plagiocephaly, Scoliosis OMIM:613355
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal parietal bone morphology, Abnormal occipital bone morpholo... ORPHA:249
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal intervertebral disk morphology, Abnormal rib morphology, ... ORPHA:887
Radio-Renal Syndrome
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:3015
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral col... ORPHA:77301
Trisomy 1Q
Frontal bossing, Short thorax, Abnormal rib morphology ORPHA:261344
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Frontal bossing, Turricephaly, Hypoplastic scapulae, Craniosynostosis, Wide anterior fontanel, Ab... ORPHA:95699
Otopalatodigital Syndrome Type 2
Abnormal rib morphology, Narrow chest, Scoliosis, Abnormal vertebral segmentation and fusion, Thi... ORPHA:90652
Myhre Syndrome
Craniofacial hyperostosis, Platyspondyly, Abnormal rib morphology, Midface retrusion ORPHA:2588
Monosomy 9P
Short neck, Abnormal rib morphology, Brachycephaly, Abnormality of the vertebral column, Scoliosi... ORPHA:261112
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Shoulder flexion contracture, Short neck, Hyperlordosis, Kyphosis,... ORPHA:800
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Scoliosis ORPHA:1300
Osteogenesis Imperfecta
Multiple rib fractures, Cervical kyphosis, Pectus excavatum, Kyphosis, Vertebral compression frac... ORPHA:666
Microphthalmia, Syndromic 6
Plagiocephaly, Brachycephaly, Lambdoidal craniosynostosis, Midface retrusion OMIM:607932
Liver Disease, Severe Congenital
Plagiocephaly OMIM:619991
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Craniofacial hyperostosis, Abnormal rib morphology, Abnormal form o... ORPHA:581
Mowat-Wilson Syndrome
Periventricular heterotopia, Pectus excavatum, Pectus carinatum, Scoliosis, Polymicrogyria, Anter... ORPHA:2152
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Abnormal rib morphology, Short neck ORPHA:488434
Ulbright-Hodes Syndrome
Short neck, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin ribs, Prominent occiput,... ORPHA:3404
Simpson-Golabi-Behmel Syndrome, Type 1
Trigonocephaly, Pectus excavatum, Pectus carinatum, Vertebral segmentation defect, Short sternum,... OMIM:312870
Trisomy 18
Prominent occiput, Abnormal rib morphology, Dolichocephaly ORPHA:3380
Smith-Lemli-Opitz Syndrome
Short neck, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Biparietal ... ORPHA:818
Alagille Syndrome 1
Frontal bossing, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch OMIM:118450
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation d... ORPHA:373
Oculocerebrorenal Syndrome Of Lowe
Frontal bossing, Flat occiput, Kyphosis, Abnormal rib morphology, Platyspondyly, Scoliosis ORPHA:534
Hereditary Acrokeratotic Poikiloderma
Turricephaly, Abnormal rib morphology ORPHA:2907
Dextrocardia
Abnormal rib morphology ORPHA:1666
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Abnormality of neuronal migration ORPHA:991
Vater/Vacterl Association
Abnormal sternum morphology, Abnormal vertebral morphology, Abnormal rib morphology, Scoliosis OMIM:192350
Ear-Patella-Short Stature Syndrome
Craniosynostosis, Abnormal rib morphology, Aplastic clavicle ORPHA:2554
Acrofacial Dysostosis, Rodríguez Type
Sprengel anomaly, Abnormal form of the vertebral bodies ORPHA:1788
Autosomal Recessive Malignant Osteopetrosis
Abnormal rib morphology, Narrow chest, Craniosynostosis ORPHA:667
Acrofacial Dysostosis 1, Nager Type
Hypoplasia of first ribs, Scoliosis, Polymicrogyria, Abnormality of the cervical spine, Midface r... OMIM:154400
Charge Syndrome
Abnormal rib morphology, Hemivertebrae, Scoliosis ORPHA:138
Kindler Epidermolysis Bullosa
Turricephaly, Abnormal rib morphology ORPHA:2908
Charge Syndrome
Abnormal rib morphology, Hemivertebrae, Down-sloping shoulders, Scoliosis OMIM:214800
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857
Nager Syndrome
ORPHA:245

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 Sf3b4

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 Sf3b4.

No publications found that use IMPC mice or data for Sf3b4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sf3b4tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Sf3b4tm446448(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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