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Gene: Sf3b4 MGI:109580

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.

Human diseases associated with Sf3b4 (3 diseases)
Human diseases predicted to be associated with Sf3b4 (313 diseases)

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

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

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

Disease	Matching phenotypes	Source
Kleefstra Syndrome 2	Plagiocephaly, Scoliosis, Kyphosis, Midface retrusion	OMIM:617768
Craniosynostosis 6	Craniosynostosis, Bicoronal synostosis, Plagiocephaly, Scoliosis, Brachycephaly, Turricephaly, Ri...	OMIM:616602
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly, Pectus excavatum, Cervical ribs, Kyphosis	ORPHA:77300
Fibrochondrogenesis	Plagiocephaly, Short neck, Short ribs, Wide anterior fontanel, Broad ribs, Hypoplastic scapulae, ...	ORPHA:2021
Craniofrontonasal Dysplasia	Craniosynostosis, Plagiocephaly, Congenital pseudoarthrosis of the clavicle, Scoliosis, Down-slop...	ORPHA:1520
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly, Polymicrogyria, Scoliosis, Midface retrusion, Cervical platyspondyly	OMIM:618731
Anauxetic Dysplasia 3	Plagiocephaly, Pectus excavatum, Wide anterior fontanel, Midface retrusion, Thoracolumbar kyphosc...	OMIM:618853
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Thoracic kyphosis, Brachycephaly, Ovoid vertebral bodies, Short neck, Wide anterior fontanel, Ani...	ORPHA:163649
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Thoracolumbar scoliosis, Plagiocephaly	OMIM:607313
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Plagiocephaly, Scoliosis, Brachycephaly, Midface retrusion, Unilambdoid synostosis	OMIM:618577
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormal rib morphology, Pectus carinatum, Scoliosis	ORPHA:3268
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal rib morphology, Clavicular sclerosis, Sclerotic vertebral bod...	ORPHA:2790
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
Band Heterotopia	Plagiocephaly, Polymicrogyria, Subcortical band heterotopia, Gray matter heterotopia	OMIM:600348
Chromosome 3Q13.31 Deletion Syndrome	Plagiocephaly, Dolichocephaly, Brachycephaly, Kyphosis	OMIM:615433
Intellectual Developmental Disorder, Autosomal Dominant 66	Plagiocephaly, Pectus excavatum, Scoliosis, Brachycephaly, Pectus carinatum	OMIM:619910
Autosomal Dominant Spondylocostal Dysostosis	Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs, Prominent occiput, Abnormal rib ...	ORPHA:1797
Congenital Muscular Dystrophy, Fukuyama Type	Plagiocephaly, Pectus excavatum, Type II lissencephaly, Brachycephaly, Dolichocephaly	ORPHA:272
Sporadic Fetal Brain Disruption Sequence	Prominent occiput, Plagiocephaly	ORPHA:1665
Cebalid Syndrome	Plagiocephaly, Polymicrogyria, Brachycephaly, Platystencephaly, Midface retrusion, Dolichocephaly...	OMIM:618774
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Neurogenic Arthrogryposis Multiplex Congenita	Scaphocephaly, Scoliosis, Plagiocephaly	ORPHA:1143
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vertebral segmentation defect	OMIM:608681
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Plagiocephaly, Scoliosis, Thoracic hemivertebrae, Brachycephaly, Midface retrusion, Dolichocephal...	OMIM:619721
Spondylocostal Dysostosis 3, Autosomal Recessive	Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Hypoplasia of the odontoid pro...	OMIM:609813
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Plagiocephaly, Scoliosis	OMIM:617481
Coffin-Siris Syndrome 6	Plagiocephaly, Pectus excavatum, Kyphoscoliosis, Frontal bossing	OMIM:617808
Heart Defects-Limb Shortening Syndrome	Abnormal rib morphology, Narrow chest, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Osteogenesis Imperfecta, Type Xx	Plagiocephaly, Brachycephaly, Asymmetry of the thorax, Vertebral compression fracture, Midface re...	OMIM:618644
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Scoliosis, Brachycephaly, Short neck, Frontal bossing	OMIM:616801
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly, Frontal polymicrogyria, Pachygyria	OMIM:614563
Sprengel Deformity	Scoliosis, Hemivertebrae, Cervical segmentation defect, Rib segmentation abnormalities, Spina bif...	OMIM:184400
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Plagiocephaly, Trigonocephaly, Thin ribs, Decreased calvarial ossification	OMIM:618265
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Pectus excavatum, Frontal bossing	OMIM:618330
Prune1-Related Neurological Syndrome	Plagiocephaly, Scoliosis	ORPHA:544469
Malan Overgrowth Syndrome	Plagiocephaly, Pectus excavatum, Scoliosis, Frontal bossing, Scaphocephaly	ORPHA:420179
Spondylocostal Dysostosis 5	Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missing ribs, Hemive...	OMIM:122600
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly, Scoliosis, Vertebral fusion, Hypoplastic vertebral bodies, Kyphosis, Hemivertebrae...	ORPHA:2916
Kyphomelic Dysplasia	Lateral clavicle hook, Missing ribs, Anterior rib cupping, Undulate ribs, Narrow chest, Short tho...	ORPHA:1801
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly, Short neck	OMIM:618821
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Short thorax, Wide anterior fontanel, Kyp...	ORPHA:85199
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Plagiocephaly, Pectus excavatum, Brachycephaly	OMIM:618603
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	Plagiocephaly, Pectus excavatum, Butterfly vertebrae, Spina bifida occulta, Sprengel anomaly, Fus...	OMIM:619227
Intellectual Developmental Disorder, Autosomal Dominant 36	Plagiocephaly, Pectus excavatum, Scoliosis	OMIM:616362
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Plagiocephaly, Scoliosis, Brachycephaly, Midface retrusion, Frontal bossing	OMIM:618430
Paternal Uniparental Disomy Of Chromosome 5	Kyphoscoliosis, Posterior plagiocephaly	ORPHA:96190
Spondylocostal Dysostosis 1, Autosomal Recessive	Abnormality of the odontoid process, Vertebral fusion, Short neck, Hemivertebrae, Back pain, Rib ...	OMIM:277300
Bresek Syndrome	Hemivertebrae, Plagiocephaly, Scoliosis	ORPHA:85284
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Scoliosis, Pectus excavatum, Kyphosis, Platyspondyly, Decreased calvarial ossificati...	OMIM:259440
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Prominent occiput, Plagiocephaly, Dolichocephaly, Brachycephaly	OMIM:618672
Intellectual Developmental Disorder, Autosomal Dominant 48	Plagiocephaly, Polymicrogyria, Scoliosis	OMIM:617751
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Plagiocephaly, Hypoplastic vertebral bodies, Brachycephaly	ORPHA:2163
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cloverleaf skull, Platybasia, Short neck, Platyspondyly, Abnormal rib morphology, Abnormal clavic...	ORPHA:93267
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly	OMIM:618725
Isolated Klippel-Feil Syndrome	Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Abnormal ...	ORPHA:2345
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Plagiocephaly, Polymicrogyria, Scoliosis	ORPHA:500159
Fibrochondrogenesis 2	Thoracic hypoplasia, Short ribs, Midface retrusion, Platyspondyly, Bell-shaped thorax, Cupped rib...	OMIM:614524
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Muenke Syndrome	Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Midface retrusion	OMIM:602849
Metatropic Dysplasia	Scoliosis, Long thorax, Kyphosis, Abnormal rib morphology, Narrow chest, Hypoplastic cervical ver...	ORPHA:2635
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Craniofacial hyperostosis, Frontal bossing	ORPHA:1513
Summitt Syndrome	Craniosynostosis, Plagiocephaly	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, Pectus carinatum, Scoliosis, Flat occiput	OMIM:619383
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly	ORPHA:94066
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Plagiocephaly, Scoliosis, Wide anterior fontanel, Midface retrusion, Dolichocephaly, Frontal bossing	ORPHA:457279
Thoracolaryngopelvic Dysplasia	Horizontal ribs, Scoliosis, Irregular chondrocostal junctions, Irregular vertebral endplates, Sho...	OMIM:187760
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Plagiocephaly, Scoliosis, Frontal bossing, Short neck	ORPHA:371364
Pentasomy X	Plagiocephaly	ORPHA:11
Cleidocranial Dysplasia 2	Congenital pseudoarthrosis of the clavicle, Plagiocephaly, Down-sloping shoulders, Wide anterior ...	OMIM:620099
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Pectus excavatum, Scoliosis, Kyphosis, Midface retrusion, Abnormal rib morphology,...	ORPHA:2215
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Scoliosis, Periventricular heterotopia	OMIM:619833
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly	OMIM:619927
Vertebral Hypersegmentation And Orofacial Anomalies	Pectus excavatum, Six lumbar vertebrae, Midface retrusion, Prominent occiput, Scapular winging, S...	OMIM:619122
Blepharophimosis-Impaired Intellectual Development Syndrome	Plagiocephaly, Scoliosis, Frontal bossing	OMIM:619293
Trisomy 20P	Plagiocephaly, Scoliosis, Brachycephaly, Short neck, Kyphosis, Platyspondyly, Dolichocephaly, Fro...	ORPHA:261318
Atelosteogenesis Type Ii	Plagiocephaly, Thoracic hypoplasia, Short neck, Short ribs, Midface retrusion, Thoracolumbar kyph...	ORPHA:56304
Aicardi Syndrome	Plagiocephaly, Polymicrogyria, Scoliosis, Butterfly vertebrae, Missing ribs, Pachygyria, Supernum...	ORPHA:50
Noonan Syndrome 13	Plagiocephaly, Scoliosis, Enlarged thorax, Short neck	OMIM:619087
Lessel-Kreienkamp Syndrome	Scaphocephaly, Plagiocephaly, Frontal bossing	OMIM:619149
Developmental And Epileptic Encephalopathy 65	Plagiocephaly	OMIM:618008
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Short ribs, Missing ribs, Thin ...	OMIM:271520
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Plagiocephaly, Type II lissencephaly, Polymicrogyria, Flat occiput, Simplified gyral pattern, Tho...	ORPHA:300570
Developmental And Epileptic Encephalopathy 1	Plagiocephaly	OMIM:308350
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Pectus excavatum, Scoliosis, Short neck, Midface retrusion, Turricephaly, Cervical...	OMIM:620224
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly	OMIM:615516
6Q25 Microdeletion Syndrome	Plagiocephaly	ORPHA:251056
Linear Nevus Sebaceus Syndrome	Biparietal narrowing, Plagiocephaly, Prominent occiput, Frontal bossing, Vertebral segmentation d...	ORPHA:2612
Ritscher-Schinzel Syndrome 4	Plagiocephaly, Scoliosis, Brachycephaly	OMIM:619435
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Pectus excavatum, Short neck, Kyphosis, Abnormal rib morphology, Abnormal clavicle morphology, Fu...	ORPHA:2522
Osteogenesis Imperfecta, Type Iii	Scoliosis, Platybasia, Wide anterior fontanel, Thin ribs, Kyphosis, Decreased calvarial ossificat...	OMIM:259420
Hyperphosphatasia-Intellectual Disability Syndrome	Plagiocephaly, Pectus excavatum, Scoliosis, Brachycephaly, Short neck, Abnormal parietal bone mor...	ORPHA:247262
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Plagiocephaly, Brachycephaly	OMIM:618862
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology, Vertebral segmentation defect, Short neck	ORPHA:2578
Mosaic Trisomy 14	Abnormal rib morphology, Frontal bossing, Narrow chest, Short neck	ORPHA:1703
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Anterior atlanto-occipital dislocation, Plagiocephaly, Craniosynostosis, Scoliosis, Pectus excava...	ORPHA:536467
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Pectus excavatum, Scoliosis, Irregular vertebral endplates, Kyphosis, Midface retr...	ORPHA:3042
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Wide anterior fontanel, Scoliosis, Pectus excavatum	OMIM:618548
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly	OMIM:618089
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Prominent occiput, Plagiocephaly, Scoliosis, Spina bifida occulta	OMIM:617360
Autosomal Recessive Spondylocostal Dysostosis	Scoliosis, Short thorax, Short neck, Kyphosis, Prominent occiput, Abnormal rib morphology, Rib se...	ORPHA:2311
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Perisylvian polymicrogyria, Abnormal vertebral morphology	ORPHA:280195
Saethre-Chotzen Syndrome	Craniosynostosis, Plagiocephaly, Scoliosis, Brachycephaly, Hyperlordosis, Abnormal form of the ve...	ORPHA:794
Poland Syndrome	Hemivertebrae, Short ribs, Sprengel anomaly, Rib fusion	OMIM:173800
Muenke Syndrome	Plagiocephaly, Coronal craniosynostosis, Brachycephaly	ORPHA:53271
Gapo Syndrome	Plagiocephaly, Scoliosis, Wide anterior fontanel, Bell-shaped thorax, Frontal bossing	OMIM:230740
6Q Terminal Deletion Syndrome	Aplasia/Hypoplasia of the ribs, Plagiocephaly, Polymicrogyria, Scoliosis, Short neck, Gray matter...	ORPHA:75857
Galloway-Mowat Syndrome 4	Plagiocephaly, Polymicrogyria	OMIM:617730
Achondrogenesis Type 1B	Short neck, Abnormal rib morphology, Narrow chest, Short thorax, Frontal bossing	ORPHA:93298
Opitz-Kaveggia Syndrome	Plagiocephaly, Lumbar hyperlordosis, Short neck, Wide anterior fontanel, Sacral dimple, Gray matt...	OMIM:305450
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Plagiocephaly, Simplified gyral pattern, Scoliosis, Macrogyria	OMIM:300749
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormal rib morphology, Hemivertebrae, Short neck	ORPHA:2234
White Forelock With Malformations	Abnormal rib morphology, Dolichocephaly, Spina bifida occulta, Sprengel anomaly	ORPHA:2475
Fg Syndrome Type 1	Craniosynostosis, Plagiocephaly, Sacral dimple, Prominent occiput, Abnormal sternum morphology	ORPHA:93932
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Plagiocephaly, Pectus excavatum, Scoliosis, Pectus carinatum	ORPHA:496641
Grant Syndrome	Brachycephaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest, Sprengel ...	ORPHA:2097
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the ribs, Thoracic hypoplasia, Scoliosis, Posterior wedging of vertebral bo...	ORPHA:168549
Chromosome 17P13.1 Deletion Syndrome	Plagiocephaly, Scoliosis, Brachycephaly, Short neck, Sacral dimple, Turricephaly	OMIM:613776
Intellectual Disability-Strabismus Syndrome	Plagiocephaly, Short neck	ORPHA:363528
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Plagiocephaly, Scoliosis, Brachycephaly, Kyphosis	ORPHA:500055
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly, Periventricular nodular heterotopia	OMIM:619188
Raine Syndrome	Plagiocephaly, Pectus excavatum, Thoracic hypoplasia, Brachycephaly, Short neck, Brachyturricepha...	OMIM:259775
Becker Nevus Syndrome	Pectus excavatum, Scoliosis, Kyphosis, Pectus carinatum, Spina bifida occulta, Supernumerary ribs...	ORPHA:64755
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Plagiocephaly, Scoliosis, Frontal bossing	OMIM:617193
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities	Plagiocephaly, Frontal bossing	OMIM:618354
Cole-Carpenter Syndrome	Scoliosis, Kyphosis, Midface retrusion, Abnormal rib morphology, Turricephaly, Frontal bossing, A...	ORPHA:2050
Spondylocostal Dysostosis 4, Autosomal Recessive	Pectus excavatum, Abnormality of the odontoid process, Scoliosis, Vertebral fusion, Short neck, M...	OMIM:613686
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Plagiocephaly, Frontal bossing, Midface retrusion	OMIM:619720
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Plagiocephaly, Pectus excavatum, Scoliosis, Coat hanger sign of ribs, Thoracic hypoplasia, Short ...	ORPHA:96334
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly, Abnormality of neuronal migration	ORPHA:2063
Robinow-Sorauf Syndrome	Craniosynostosis, Plagiocephaly, Pansynostosis	OMIM:180750
Diastrophic Dysplasia	Scoliosis, Kyphosis, Midface retrusion, Abnormal rib morphology, Abnormal clavicle morphology, Hy...	ORPHA:628
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Scoliosis, Irregular vertebral endplates, Short neck, Thin ribs, Platyspondyly, Dolichocephaly, N...	OMIM:618395
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Plagiocephaly, Pectus excavatum, Scoliosis, Dolichocephaly	ORPHA:1101
Klippel-Feil Syndrome 1, Autosomal Dominant	Scoliosis, Short neck, Abnormal rib morphology, Abnormal vertebral segmentation and fusion, Spren...	OMIM:118100
Developmental And Epileptic Encephalopathy 110	Posterior plagiocephaly	OMIM:620149
Au-Kline Syndrome	Craniosynostosis, Plagiocephaly, Pectus excavatum, Thoracolumbar scoliosis, Sacral dimple, Dolich...	OMIM:616580
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly, Scoliosis	OMIM:615471
Cooper-Jabs Syndrome	Scoliosis, Brachycephaly, Missing ribs, Abnormal rib morphology, Frontal bossing	ORPHA:1488
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs	OMIM:615220
Turnpenny-Fry Syndrome	Plagiocephaly, Pectus excavatum, Lumbar hyperlordosis, Brachycephaly, Long thorax, Wide anterior ...	OMIM:618371
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Craniosynostosis, Plagiocephaly, Scoliosis, Gray matter heterotopia, Vertebral segmentation defect	ORPHA:453499
3M Syndrome	Horizontal ribs, Scoliosis, Enlarged thorax, Short neck, Increased vertebral height, Thin ribs, K...	ORPHA:2616
Alkuraya-Kucinskas Syndrome	Plagiocephaly, Lissencephaly, Gray matter heterotopia	OMIM:617822
Kleefstra Syndrome Due To A Point Mutation	Plagiocephaly, Brachycephaly, Midface retrusion	ORPHA:261652
Cole-Carpenter Syndrome 2	Coronal craniosynostosis, Pectus excavatum, Thin ribs, Kyphosis, Midface retrusion, Platyspondyly...	OMIM:616294
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Thin calvarium, Broad ribs, Wide anterior fontanel, Parietal bossing, Vertebral arch anomaly	ORPHA:85184
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Scoliosis, Hemivertebrae, Abnormal rib morphology, Sprengel anomaly, Abnormal form of the vertebr...	ORPHA:2180
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Frontal bossing, Sacral dimple, Turricephaly	OMIM:613603
Trichohepatoneurodevelopmental Syndrome	Plagiocephaly, Pectus excavatum, Scoliosis, Brachycephaly, Midface retrusion, Narrow chest	OMIM:618268
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Scoliosis, Kyphosis, Dolichocephaly, Frontal bossing	OMIM:619005
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Bicoronal synostosis, Scoliosis, Kyphosis, Anterior plagiocephaly	OMIM:619718
Dihydropyrimidinase Deficiency	Plagiocephaly	OMIM:222748
Aymé-Gripp Syndrome	Craniosynostosis, Plagiocephaly, Scoliosis, Brachycephaly, Supernumerary ribs, Abnormal thorax mo...	ORPHA:1272
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Plagiocephaly, Frontal bossing, Brachycephaly	OMIM:617296
Cerebrofaciothoracic Dysplasia	Scoliosis, Brachycephaly, Short neck, Midface retrusion, Hemivertebrae, Bifid ribs, Narrow chest,...	ORPHA:1394
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology, Frontal bossing	ORPHA:1506
Cranioectodermal Dysplasia 2	Craniosynostosis, Cloverleaf skull, Plagiocephaly, Horizontal ribs, Pectus excavatum, Short neck,...	OMIM:613610
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thoracic hypoplasia, Ovoid vertebral bodies, Short neck, Short ribs, Severe platyspondyly, Disc-l...	OMIM:151210
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Plagiocephaly, Frontal bossing, Brachycephaly, Short neck	OMIM:610759
Fibrochondrogenesis 1	Thoracic hypoplasia, Short neck, Long clavicles, Short ribs, Wide anterior fontanel, Posterior ve...	OMIM:228520
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Frontal bossing, Thin ribs, 11 pairs of ribs	OMIM:300863
Osteogenesis Imperfecta, Type Ii	Thoracic hypoplasia, Beaded ribs, Thin ribs, Platyspondyly, Absent ossification of calvaria, Bell...	OMIM:166210
Mesomelic Dysplasia, Kantaputra Type	Abnormal rib morphology, Vertebral segmentation defect	ORPHA:1836
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormal rib morphology, Decreased calvarial ossification, Abnormality of neuronal migration	ORPHA:2772
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Left unicoronal synostosis, Anterior plagiocephaly	OMIM:614749
Duane Retraction Syndrome	Plagiocephaly, Short neck, Abnormal vertebral segmentation and fusion, Spina bifida occulta, Abno...	ORPHA:233
Lethal Congenital Contracture Syndrome Type 1	Abnormal form of the vertebral bodies, Abnormal rib morphology, Short neck	ORPHA:1486
Achondrogenesis, Type Ii	Horizontal ribs, Brachycephaly, Short ribs, Barrel-shaped chest, Frontal bossing, Absent vertebra...	OMIM:200610
Femoral-Facial Syndrome	Abnormal sacrum morphology, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Rib fusion, Ver...	ORPHA:1988
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Hemivertebrae, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:2759
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly	OMIM:605282
Developmental And Epileptic Encephalopathy 84	Plagiocephaly	OMIM:618792
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly	OMIM:616579
Melnick-Needles Syndrome	Craniofacial hyperostosis, Scoliosis, Anisospondyly, Short clavicles, Abnormal rib morphology, Na...	ORPHA:2484
Jeune Syndrome	Abnormal rib morphology, Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal stern...	ORPHA:474
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Kyphosis, Abnormal rib morphology, Pectus carinatum, Frontal bossing	ORPHA:3082
9Q33.3Q34.11 Microdeletion Syndrome	Plagiocephaly, Brachycephaly, Short neck	ORPHA:495818
Carey-Fineman-Ziter Syndrome 1	Plagiocephaly, Scoliosis, Spinal rigidity	OMIM:254940
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Plagiocephaly, Pectus carinatum, Scoliosis	OMIM:620083
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Craniosynostosis, Plagiocephaly	ORPHA:457193
Craniosynostosis, Herrmann-Opitz Type	Craniosynostosis, Abnormal rib morphology, Brachycephaly, Turricephaly	ORPHA:2145
Achondrogenesis, Type Ia	Barrel-shaped chest, Beaded ribs, Short thorax, Short neck, Short ribs, Flaring of rib cage, Hypo...	OMIM:200600
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Plagiocephaly, Brachycephaly, Hypoplastic coccygeal vertebrae, Midface retrusion, Frontal bossing	OMIM:619512
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly, Midface retrusion	OMIM:239300
Cdags Syndrome	Coronal craniosynostosis, Brachycephaly, Short ribs, Kyphosis, Short clavicles, Midface retrusion...	OMIM:603116
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly	OMIM:619680
Frontonasal Dysplasia 2	Craniosynostosis, Calvarial skull defect, Brachycephaly, Anterior plagiocephaly, Parietal foramina	OMIM:613451
Mucopolysaccharidosis, Type X	Scoliosis, Spatulate ribs, Broad ribs, Broad clavicles, Platyspondyly, Posterior scalloping of ve...	OMIM:619698
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly	OMIM:618106
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Plagiocephaly, Scoliosis, Brachycephaly	OMIM:301072
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Abnormal rib morphology	ORPHA:93351
Alg12-Cdg	Scoliosis, Pachygyria, Posterior plagiocephaly, Midface retrusion	ORPHA:79324
Holt-Oram Syndrome	Down-sloping shoulders, Pectus excavatum, Scoliosis, Kyphosis, Abnormal rib morphology, Abnormal ...	ORPHA:392
Osteogenesis Imperfecta, Type Xvi	Beaded ribs, Vertebral compression fracture, Platyspondyly, Decreased calvarial ossification, Nar...	OMIM:616229
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Abnormality of the vertebral column, Abnormal rib morphology, Sprengel anomaly	OMIM:601076
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Pectus excavatum, Scoliosis	ORPHA:457284
Osteogenesis Imperfecta, Type Viii	Scoliosis, Wide anterior fontanel, Thin ribs, Kyphosis, Vertebral compression fracture, Platyspon...	OMIM:610915
Mucopolysaccharidosis Type 4	Scoliosis, Short neck, Kyphosis, Platyspondyly, Abnormal rib morphology, Spinal canal stenosis, P...	ORPHA:582
Juberg-Hayward Syndrome	Abnormal rib morphology, Scoliosis, Abnormal vertebral morphology	ORPHA:2319
10Q22.3Q23.3 Microduplication Syndrome	Abnormal rib morphology, Abnormal clavicle morphology	ORPHA:276422
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of scapulae	OMIM:602196
Osteogenesis Imperfecta, Type X	Thoracic hypoplasia, Scoliosis, Broad ribs, Thin ribs, Vertebral compression fracture, Midface re...	OMIM:613848
Dysosteosclerosis	Irregular vertebral endplates, Short ribs, Hypoplastic vertebral bodies, Broad ribs, Short sternu...	OMIM:224300
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal rib morphology, Craniofacial hyperostosis, Pectus carinatum, Hyperlordosis	ORPHA:3068
Neurofaciodigitorenal Syndrome	Plagiocephaly, Pectus excavatum, Brachycephaly	ORPHA:2673
Spondylometaphyseal Dysplasia, Sedaghatian Type	Abnormal scapula morphology, Platyspondyly, Abnormal rib morphology, Narrow chest, Pachygyria, Tu...	ORPHA:93317
Holzgreve Syndrome	Abnormal rib morphology, Abnormally ossified vertebrae, Turricephaly	ORPHA:2167
Chromosome 14Q11-Q22 Deletion Syndrome	Plagiocephaly, Pachygyria	OMIM:613457
Chilton-Okur-Chung Neurodevelopmental Syndrome	Plagiocephaly, Pectus excavatum, Scoliosis, Posterior plagiocephaly, Asymmetry of the thorax, Sho...	OMIM:619841
Alagille Syndrome	Brachycephaly, Abnormal rib morphology, Spina bifida occulta, Butterfly vertebral arch, Frontal b...	ORPHA:52
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly	OMIM:615656
Cleidocranial Dysplasia	Down-sloping shoulders, Abnormal sacrum morphology, Scoliosis, Brachycephaly, Hypoplastic scapula...	ORPHA:1452
Prune Belly Syndrome	Abnormal rib morphology, Pectus excavatum, Scoliosis, Vertebral segmentation defect	ORPHA:2970
Hypophosphatasia	Craniosynostosis, Narrow chest, Abnormal rib morphology	ORPHA:436
Osteopetrosis With Renal Tubular Acidosis	Plagiocephaly, Pectus excavatum, Brachycephaly, Prominent floating ribs, Thickened calvaria	ORPHA:2785
Campomelia, Cumming Type	Abnormal rib morphology, Abnormally ossified vertebrae, Dolichocephaly, Abnormal thorax morphology	ORPHA:1318
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly	OMIM:261990
Axial Mesodermal Dysplasia Spectrum	Scoliosis, Short neck, Missing ribs, Abnormal rib morphology, Vertebral segmentation defect, Abno...	ORPHA:1834
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Plagiocephaly, Scoliosis, Dolichocephaly, Frontal bossing	OMIM:619480
Intellectual Developmental Disorder, Autosomal Dominant 53	Brachycephaly, Posterior plagiocephaly	OMIM:617798
Cat-Eye Syndrome	Abnormal rib morphology	ORPHA:195
Trisomy 13	Calvarial skull defect, Scoliosis, Kyphosis, Abnormal rib morphology, Narrow chest	ORPHA:3378
Doors Syndrome	Polymicrogyria, Brachycephaly, Sagittal craniosynostosis, Lumbar scoliosis, Hemivertebrae, Promin...	ORPHA:79500
Arboleda-Tham Syndrome	Craniosynostosis, Plagiocephaly, Pectus excavatum, Long thorax, Midface retrusion, Narrow chest, ...	OMIM:616268
Faciocardiorenal Syndrome	Plagiocephaly	ORPHA:1973
Antley-Bixler Syndrome	Craniosynostosis, Brachycephaly, Abnormal rib morphology, Narrow chest, Turricephaly, Frontal bos...	ORPHA:83
Joubert Syndrome 1	Plagiocephaly	OMIM:213300
Phaver Syndrome	Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies	ORPHA:2876
Mosaic Trisomy 8	Scoliosis, Short neck, Abnormal rib morphology, Dolichocephaly, Narrow chest, Frontal bossing, Ve...	ORPHA:96061
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cervical C2/C3 vertebral fusion, Plagiocephaly, Abnormal vertebral morphology	ORPHA:444077
Faundes-Banka Syndrome	Lumbar hemivertebrae, Plagiocephaly, Frontal bossing	OMIM:619376
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Thoracic hypoplasia, Horizontal ribs, Platybasia, Ovoid vertebral bodies, Thoracolumbar scoliosis...	OMIM:618019
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Frontal bossing, Pectus excavatum, Plagiocephaly, Brachycephaly	OMIM:280000
Microgastria-Limb Reduction Defect Syndrome	Plagiocephaly, Aplastic clavicle, Frontal bossing, Abnormal cortical gyration	ORPHA:2538
Helsmoortel-Van Der Aa Syndrome	Pectus excavatum, Scoliosis, Posterior plagiocephaly, Midface retrusion, Hyperlordosis	OMIM:615873
Trichorhinophalangeal Syndrome, Type Ii	Plagiocephaly, Pectus excavatum, Scoliosis, Rib exostoses, Lumbar scoliosis, Thoracolumbar scolio...	OMIM:150230
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Plagiocephaly, Scoliosis, Kyphosis, Dolichocephaly, Back pain, Abnormal curvature of the vertebra...	OMIM:619475
Adnp Syndrome	Trigonocephaly, Plagiocephaly, Brachycephaly	ORPHA:404448
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology	ORPHA:2643
Cenani-Lenz Syndrome	Abnormal rib morphology, Frontal bossing, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3258
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal rib morphology, Abnormally ossified vertebrae	ORPHA:3035
Renpenning Syndrome	Abnormal rib morphology, Pectus excavatum, Sprengel anomaly	ORPHA:3242
Coffin-Siris Syndrome 1	Plagiocephaly, Scoliosis, Brachycephaly, Sacral dimple, Kyphosis, Short sternum, Spina bifida occ...	OMIM:135900
Aicardi-Goutières Syndrome	Plagiocephaly, Scoliosis	ORPHA:51
Bent Bone Dysplasia Syndrome 2	Butterfly vertebrae, Short neck, Coronal cleft vertebrae, Short ribs, Thin ribs, Platyspondyly, D...	OMIM:620076
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Thoracic dysplasia, Horizontal ribs, Brachycephaly, Lateral clavicle hook, Short ribs, Platyspond...	OMIM:263520
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal rib morphology, Vertebral segmentation defect	ORPHA:1120
Ring Chromosome 7 Syndrome	Plagiocephaly, Lumbar kyphoscoliosis, Brachycephaly	ORPHA:1449
Waardenburg Syndrome, Type 1	Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly	OMIM:193500
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Horizontal ribs, Brachycephaly, Lateral clavicle hook, Short neck, Long thorax, Short ribs, Wide ...	OMIM:617925
Hurler Syndrome	Scoliosis, Short neck, Abnormal rib morphology, Spinal canal stenosis, Dolichocephaly, Abnormal c...	ORPHA:93473
Oculocerebrocutaneous Syndrome	Abnormal rib morphology, Missing ribs, Calvarial skull defect, Polymicrogyria	ORPHA:1647
Cartilage-Hair Hypoplasia	Scoliosis, Brachycephaly, Short neck, Sacral dimple, Abnormal rib morphology, Biconvex vertebral ...	ORPHA:175
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Plagiocephaly, Thickened calvaria, Kyphoscoliosis, Frontal bossing	ORPHA:466791
3Q29 Microdeletion Syndrome	Pectus excavatum, Pectus carinatum, Six lumbar vertebrae	ORPHA:65286
Postaxial Acrofacial Dysostosis	Pectus excavatum, Supernumerary vertebrae	OMIM:263750
Saethre-Chotzen Syndrome	Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Oxycephaly, Lambdoidal craniosynostosis, ...	OMIM:101400
Pyknoachondrogenesis	Craniofacial hyperostosis, Horizontal ribs, Enlarged thorax, Short ribs, Poorly ossified vertebra...	ORPHA:3003
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Degcags Syndrome	Craniosynostosis, Plagiocephaly, Sacral dimple	OMIM:619488
Familial Osteodysplasia, Anderson Type	Scoliosis, Missing ribs, Kyphosis, Abnormal rib morphology, Aplastic clavicle, Abnormal form of t...	ORPHA:2769
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Craniosynostosis, Plagiocephaly	ORPHA:1521
Poland Syndrome	Scoliosis, Short neck, Short ribs, Missing ribs, Asymmetry of the thorax, Abnormal sternum morpho...	ORPHA:2911
Osteogenesis Imperfecta, Type Vii	Pectus excavatum, Scoliosis, Wide anterior fontanel, Vertebral compression fracture, Decreased ca...	OMIM:610682
Tetraamelia-Multiple Malformations Syndrome	Abnormal rib morphology, Abnormally ossified vertebrae, Missing ribs	ORPHA:3301
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Plagiocephaly, Scoliosis	OMIM:613355
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal rib morphology, Short ribs, Broad ribs, Abnormal sternum morphology	ORPHA:2519
Fibrous Dysplasia Of Bone	Scoliosis, Abnormal occipital bone morphology, Abnormal lumbar spine morphology, Abnormal rib mor...	ORPHA:249
Aspergillosis	Abnormality of the vertebral column, Abnormal rib morphology	ORPHA:1163
Vacterl/Vater Association	Abnormal rib morphology, Abnormal sacrum morphology, Vertebral segmentation defect, Abnormal inte...	ORPHA:887
Radio-Renal Syndrome	Abnormal form of the vertebral bodies, Abnormal rib morphology, Short neck	ORPHA:3015
Monosomy 9Q22.3	Pectus excavatum, Short neck, Abnormality of the vertebral column, Trigonocephaly, Kyphosis, Abno...	ORPHA:77301
Trisomy 1Q	Abnormal rib morphology, Frontal bossing, Short thorax	ORPHA:261344
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Craniosynostosis, Scoliosis, Brachycephaly, Wide anterior fontanel, Hypoplastic scapulae, Midface...	ORPHA:95699
Otopalatodigital Syndrome Type 2	Scoliosis, Abnormal rib morphology, Narrow chest, Abnormal vertebral segmentation and fusion, Thi...	ORPHA:90652
Myhre Syndrome	Platyspondyly, Craniofacial hyperostosis, Abnormal rib morphology, Midface retrusion	ORPHA:2588
Monosomy 9P	Calvarial skull defect, Scoliosis, Brachycephaly, Short neck, Abnormality of the vertebral column...	ORPHA:261112
Schwartz-Jampel Syndrome	Pectus excavatum, Scoliosis, Short neck, Kyphosis, Spinal rigidity, Abnormally straight spine, Pl...	ORPHA:800
Autosomal Dominant Popliteal Pterygium Syndrome	Abnormal rib morphology, Scoliosis	ORPHA:1300
Osteogenesis Imperfecta	Thoracic hypoplasia, Pectus excavatum, Scoliosis, Brachycephaly, Thin ribs, Kyphosis, Vertebral c...	ORPHA:666
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Plagiocephaly, Brachycephaly, Midface retrusion	OMIM:607932
Liver Disease, Severe Congenital	Plagiocephaly	OMIM:619991
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Scoliosis, Abnormal rib morphology, Dolichocephaly, Abnormal clavicle ...	ORPHA:581
Mowat-Wilson Syndrome	Pectus excavatum, Scoliosis, Polymicrogyria, Pectus carinatum, Anterior plagiocephaly, Periventri...	ORPHA:2152
Camptodactyly Syndrome, Guadalajara Type 3	Abnormal rib morphology, Spina bifida occulta, Short neck	ORPHA:488434
Ulbright-Hodes Syndrome	Short neck, Short ribs, Thin ribs, Prominent occiput, Abnormal rib morphology, Short sternum, Ovo...	ORPHA:3404
Simpson-Golabi-Behmel Syndrome, Type 1	Pectus excavatum, Scoliosis, Six lumbar vertebrae, Trigonocephaly, Short ribs, Pectus carinatum, ...	OMIM:312870
Trisomy 18	Prominent occiput, Abnormal rib morphology, Dolichocephaly	ORPHA:3380
Smith-Lemli-Opitz Syndrome	Biparietal narrowing, Scoliosis, Short neck, Kyphosis, Abnormal rib morphology, Abnormal form of ...	ORPHA:818
Alagille Syndrome 1	Hemivertebrae, Frontal bossing, Abnormal rib morphology, Butterfly vertebral arch	OMIM:118450
Simpson-Golabi-Behmel Syndrome	Pectus excavatum, Scoliosis, Vertebral fusion, Short neck, Abnormal rib morphology, Vertebral seg...	ORPHA:373
Oculocerebrorenal Syndrome Of Lowe	Scoliosis, Flat occiput, Kyphosis, Platyspondyly, Abnormal rib morphology, Frontal bossing	ORPHA:534
Hereditary Acrokeratotic Poikiloderma	Abnormal rib morphology, Turricephaly	ORPHA:2907
Dextrocardia	Abnormal rib morphology	ORPHA:1666
Pagod Syndrome	Abnormal rib morphology, Abnormal clavicle morphology, Abnormality of neuronal migration	ORPHA:991
Vater/Vacterl Association	Abnormal rib morphology, Scoliosis, Abnormal vertebral morphology, Abnormal sternum morphology	OMIM:192350
Ear-Patella-Short Stature Syndrome	Craniosynostosis, Aplastic clavicle, Abnormal rib morphology	ORPHA:2554
Autosomal Recessive Malignant Osteopetrosis	Craniosynostosis, Narrow chest, Abnormal rib morphology	ORPHA:667
Acrofacial Dysostosis, Rodríguez Type	Sprengel anomaly, Abnormal form of the vertebral bodies	ORPHA:1788
Acrofacial Dysostosis 1, Nager Type	Polymicrogyria, Scoliosis, Hypoplasia of first ribs, Midface retrusion, Abnormality of the cervic...	OMIM:154400
Charge Syndrome	Hemivertebrae, Abnormal rib morphology, Scoliosis	ORPHA:138
Kindler Epidermolysis Bullosa	Abnormal rib morphology, Turricephaly	ORPHA:2908
Charge Syndrome	Hemivertebrae, Down-sloping shoulders, Abnormal rib morphology, 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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Sf3b4^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Sf3b4^{tm446448(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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