Gene Summary

RNA binding motif protein 45
Drb1,  Drbp1,  G430095G15Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lean body mass Rbm45em1(IMPC)J HET Early adult 1.77×10-07
decreased bone mineral density Rbm45em1(IMPC)J HET Early adult 2.69×10-05
abnormal body wall morphology Rbm45em1(IMPC)J HOM E18.5 0.00
edema Rbm45em1(IMPC)J HOM E18.5 0.00
polydactyly Rbm45em1(IMPC)J HOM E18.5 0.00
increased total body fat amount Rbm45em1(IMPC)J HET Early adult 1.73×10-12
abnormal head shape Rbm45em1(IMPC)J HOM E18.5 0.00
abnormal embryo size Rbm45em1(IMPC)J HOM E18.5 0.00
abnormal tail morphology Rbm45em1(IMPC)J HOM E18.5 0.00
anophthalmia Rbm45em1(IMPC)J HOM E18.5 0.00
abnormal facial morphology Rbm45em1(IMPC)J HOM E18.5 0.00
hemorrhage Rbm45em1(IMPC)J HOM E18.5 0.00

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Viewing: all phenotypes

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.

Electrocardiogram (ECG)

Waveform Image

15 Images


XRay Images Whole Body Dorso Ventral

10 Images

Gross Morphology Embryo E18.5


7 Images


XRay Images Forepaw

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology


1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Rbm45 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 Rbm45 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Oxycephaly,... OMIM:201020
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact... OMIM:206920
Meckel Syndrome, Type 8
Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly OMIM:613885
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Brachycephaly, Trigonocephaly, Broad phalanx, Prominent metopic ridge OMIM:275595
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Cloverleaf skull, Craniosynostosis, Oxycephaly,... ORPHA:65759
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Trisomy 13
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Aplasia/Hypoplasia of the iris, Bi... ORPHA:3378
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... OMIM:618167
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Isolated Brachycephaly
Midface retrusion, Brachydactyly, Metacarpal synostosis, Brachycephaly ORPHA:35099
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Sagittal cran... OMIM:614188
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Abnormality of the ulna, Genu varum, Brachycephaly, Aplasia/Hypoplasia of the ... ORPHA:2633
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Congenital hip dislocation OMIM:164180
Trisomy 1Q
Omphalocele, Toe syndactyly, Anophthalmia, Arachnodactyly, Polyhydramnios, Frontal bossing, Incre... ORPHA:261344
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Talipes equinovarus, Mitral regurgitation, Anophthalmia, Aniridia, Ulnar deviation... ORPHA:1101
Cerebrooculonasal Syndrome
Anophthalmia, Postaxial hand polydactyly, Brachycephaly ORPHA:66625
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Clinodactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... OMIM:617102
Muenke Syndrome
Plagiocephaly, Short middle phalanx of finger, Midface retrusion, Capitate-hamate fusion, Brachyc... OMIM:602849
Summitt Syndrome
Plagiocephaly, Craniosynostosis, Finger syndactyly, Genu valgum, Camptodactyly of finger, Short p... ORPHA:3210
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Aminopterin Syndrome Sine Aminopterin
Intrauterine growth retardation, Umbilical hernia, Brachycephaly, Joint contracture of the hand, ... OMIM:600325
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Jackson-Weiss Syndrome
Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Short metatarsal, Sym... ORPHA:1540
Mend Syndrome
2-3 toe syndactyly, Polydactyly, Long fingers, Overlapping fingers, Midface retrusion, Aortic val... OMIM:300960
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... OMIM:617927
Craniosynostosis 2
Brachyturricephaly, Triphalangeal thumb, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal... OMIM:604757
Microphthalmia, Anophthalmia, Polyhydramnios, Postaxial hand polydactyly, Micromelia ORPHA:2189
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Proximal placement of thumb, Finger syndactyly, Postaxial foot poly... ORPHA:139471
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Abnormality of finger, Abn... ORPHA:2511
Anophthalmia Plus Syndrome
Anophthalmia, Deviation of finger, Spina bifida ORPHA:1104
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis OMIM:614416
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Omphalocele, Microphthalmia OMIM:248450
Anencephaly 2
Anophthalmia OMIM:619452
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Tibial bowi... ORPHA:1106
Jackson-Weiss Syndrome
Broad metatarsal, 2-3 toe syndactyly, Short metatarsal, Craniosynostosis, Calcaneonavicular fusio... OMIM:123150
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Bradycardia, Brachycephaly ORPHA:2898
Metaphyseal Acroscyphodysplasia
Genu varum, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses of the phala... OMIM:250215
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Brachycephaly, Craniosynostosis, Split hand, Finger syndactyly, ... ORPHA:2145
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Polydactyly, Short 5th finger, Small placenta, Frontal bossing, ... ORPHA:397590
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Microphthalmia, Phocomelia, Anophthalmia, Aplastic clavicle, Abnormality of the ra... ORPHA:2538
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachycephaly, Limb undergrowth, Thin calvarium, Massively thickened long bone cortices, Micromel... OMIM:122900
Meckel Syndrome, Type 11
Oligohydramnios, Polydactyly OMIM:615397
Potocki-Shaffer Syndrome
Brachycephaly, Wormian bones, Parietal foramina, Turricephaly, Brachydactyly, Single transverse p... OMIM:601224
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Midface retrusion, Postaxial polydactyly, Hypoplasia of the radius, Syndactyly, Prom... OMIM:617895
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Orofaciodigital Syndrome Xvii
Polydactyly, Prominent metopic ridge, Partial duplication of thumb phalanx, Central Y-shaped meta... OMIM:617926
Bardet-Biedl Syndrome 8
Polydactyly, Brachycephaly OMIM:615985
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Spondyloperipheral Dysplasia
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... OMIM:271700
Orofaciodigital Syndrome Vi
Toe syndactyly, Postaxial polydactyly, Radial deviation of finger, Brachydactyly, Central Y-shape... OMIM:277170
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Paternal Uniparental Disomy Of Chromosome 5
Short lower limbs, Polyhydramnios, Abnormally large globe, Rhizomelic arm shortening, Abnormality... ORPHA:96190
Cerebrooculonasal Syndrome
Brachycephaly, Anophthalmia, Craniosynostosis, Proboscis, Frontal bossing, Postaxial hand polydac... OMIM:605627
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Ascites, Bowing of the long bones, Hydr... OMIM:614091
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Toe syndactyly, Midface retrusion, Brachycephaly, Aplasia/Hypoplasia of the... ORPHA:93258
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Brachycephaly, Metaphyseal widening, Wo... OMIM:309400
Joubert Syndrome 10
Frontal bossing, Postaxial polydactyly OMIM:300804
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly ORPHA:141333
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Brachycephaly, Small hand, Proximal... OMIM:300590
Meckel Syndrome, Type 2
Meningocele, Microphthalmia, Polydactyly, Intrauterine growth retardation, Bowing of the long bon... OMIM:603194
Craniofrontonasal Dysplasia
Plagiocephaly, Broad hallux phalanx, Brachycephaly, Craniosynostosis, Congenital pseudoarthrosis ... ORPHA:1520
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Adducted thumb, Talipes equinovarus, Brachycephaly, Mitral regurgitation, Arachnodactyly, Frontal... OMIM:615539
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Short 5th metacarpal, Brachycephaly, Anophthalmia, Finger syndactyly, Short foot,... ORPHA:264200
Au-Kline Syndrome
Postaxial polydactyly, Craniosynostosis, Hip dysplasia, Dolichocephaly, Deep palmar crease, Overl... OMIM:616580
Joubert Syndrome 18
Intrauterine growth retardation, Polydactyly, Camptodactyly OMIM:614815
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Tapered finger, Trigonocephaly, Postaxial polydactyly, Brachycephaly, Macular hypop... OMIM:613792
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Intrauterine growth retardation, Brachycephaly, Postaxial polydactyly, Preaxial polydactyly, Over... OMIM:618142
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry, Delayed closure of the anterio... ORPHA:231140
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polydactyly, Postaxial hand polyda... OMIM:615986
Carpenter Syndrome 1
Omphalocele, Genu varum, Joint contracture of the hand, Deviation of finger, Shallow acetabular f... OMIM:201000
Pentasomy X
Plagiocephaly, Small hand, Short foot, Hip dysplasia, Camptodactyly of finger, Clinodactyly of th... ORPHA:11
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Brachycephaly ORPHA:178377
Spondyloepiphyseal Dysplasia, Nishimura Type
Microphthalmia, Wide proximal femoral metaphysis, Abnormal femoral neck/head morphology, Abnormal... ORPHA:163649
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... ORPHA:2378
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Syndactyly, Abnormal pelvis bone morphology, Short long bone, Flat ace... ORPHA:1505
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... OMIM:147750
Chondrodysplasia Punctata 2, X-Linked Dominant
Tarsal stippling, Microphthalmia, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Edema... OMIM:302960
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Metatarsa... ORPHA:2756
Vacterl With Hydrocephalus
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Hypoplasia of the radius, Polyhydr... ORPHA:3412
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Microphthalmia, Polydactyly OMIM:602501
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Short long bone, Brachydactyly, Postaxial polydactyly OMIM:615633
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Rocker bottom foot, Wrist flexion contracture, Hip dislocation, Scaphocephaly, Oli... ORPHA:1143
Pseudodiastrophic Dysplasia
Midface retrusion, Talipes equinovarus, Brachycephaly, Rhizomelia, Frontal bossing, Camptodactyly... OMIM:264180
Isolated Plagiocephaly
Plagiocephaly, Midface retrusion, Frontal bossing ORPHA:35098
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Polydactyly, Hypoplastic ischia OMIM:616910
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Plagiocephaly, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndacty... OMIM:605282
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Midface retrusion, Excessive femoral anteversion, Hitc... ORPHA:56304
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Polydactyly, Short finger OMIM:182230
3P25.3 Microdeletion Syndrome
Microphthalmia, Postaxial polydactyly, Tapered finger, Brachycephaly, Congenital pseudoarthrosis ... ORPHA:435638
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, Microphthalmia OMIM:615877
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Joubert Syndrome 32
Frontal bossing, Hypertrophic cardiomyopathy, Postaxial polydactyly OMIM:617757
Acromelic Frontonasal Dysostosis
Polydactyly, Talipes equinovarus, Brachycephaly, Preaxial polydactyly, Syndactyly OMIM:603671
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Plagiocephaly, Tapered finger, Brachycephaly, Small hand, Hip dysplasia, Dolichocephaly, Prominen... OMIM:618672
Pde4D Haploinsufficiency Syndrome
Broad metatarsal, Upper limb undergrowth, Short middle phalanx of finger, Thickened calvaria, Con... ORPHA:439822
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Optic nerve hypoplasia, ... OMIM:618736
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Focal Dermal Hypoplasia
Omphalocele, Short metatarsal, Midclavicular hypoplasia, Foot polydactyly, Short phalanx of finge... OMIM:305600
Nevus Comedonicus Syndrome
Toe syndactyly, Preaxial polydactyly, Finger syndactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Hallux valgus, Intrauterine growth retardation, Brachycephaly, Cubitus valgus, Sp... ORPHA:1327
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Dilated cardiomyopathy, Intrauterine growth retardation, Brachycephaly, Camptodact... ORPHA:272
Cockayne Syndrome Type 2
Anophthalmia, Intrauterine growth retardation ORPHA:90322
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly, Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Laurence-Moon Syndrome
Brachycephaly, Finger syndactyly, Bilateral single transverse palmar creases, Hand polydactyly, B... ORPHA:2377
Microphthalmia, Syndromic 3
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Frontal bossing OMIM:206900
Grant Syndrome
Abnormality of the glenoid fossa, Large fontanelles, Brachycephaly, Bowing of the long bones, Wor... ORPHA:2097
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, 2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar... OMIM:617866
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Midface retrusion, Brachycephaly, Unilambdoid synostosis, Ulnar deviation of the w... OMIM:618577
Matthew-Wood Syndrome
Anophthalmia, Intrauterine growth retardation, Microphthalmia ORPHA:2470
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hallux valgus, Thickened calvaria, Brachycephaly, Avascular necrosis of the capital femoral epiph... OMIM:304950
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Hyperextensibility of the finger joints, Rhizomelia, Clinodactyly of the 3rd finge... OMIM:618821
Anauxetic Dysplasia 3
Plagiocephaly, Short middle phalanx of finger, Midface retrusion, Genu valgum, Hip subluxation, S... OMIM:618853
Flat occiput, Omphalocele, Microphthalmia, Anophthalmia, Frontal bossing, Branchial anomaly, Hand... ORPHA:2162
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Short... OMIM:615994
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Pelger-Huet Anomaly
Upper limb undergrowth, Short 3rd metacarpal, Short 5th metacarpal, Polydactyly, Frontal bossing,... OMIM:169400
Congenital Sialidosis Type 2
Telangiectasia, Polydactyly, Hypoplasia of the fovea, Ascites, Umbilical hernia, Edema, Abnormal ... ORPHA:93400
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Large fontanelles, Brachycephaly, Bowing of the long bones, Craniosynostosis, Tur... ORPHA:171839
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia, Metatarsus valgus ORPHA:899
Otofacioosseous-Gonadal Syndrome
Talipes equinovarus, Brachycephaly, Wormian bones, Genu valgum, Frontal bossing, Carpal synostosi... OMIM:601976
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Adducted thumb, Ascites, Decreased ... OMIM:616897
Alkuraya-Kucinskas Syndrome
Plagiocephaly, Adducted thumb, Talipes equinovarus, Pericardial effusion, Hand clenching, Edema, ... OMIM:617822
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Muenke Syndrome
Tarsal synostosis, Plagiocephaly, Cone-shaped epiphysis, Brachycephaly, Carpal synostosis, Short ... ORPHA:53271
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Wide anterior fontanel, Clinodactyly, Brachydactyly ORPHA:313781
Arthrogryposis, Distal, Type 4
Tibial deviation of toes, Deviation of the 2nd toe, Talipes equinovarus, Camptodactyly of 2nd-5th... OMIM:609128
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Nephronophthisis 15
Polydactyly OMIM:614845
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Brachydactyly, Postaxial polydactyly OMIM:600151
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Anophthalmia, Pulmonic stenosis, Bilateral microphthalmos, Ingui... OMIM:601186
Holoprosencephaly, Recurrent Infections, And Monocytosis
Brachycephaly, Tapered finger, Short finger, Short toe, Brachydactyly OMIM:610680
Martsolf Syndrome 1
Metatarsus adductus, Microphthalmia, Slender ulna, Talipes equinovarus, Brachycephaly, Cardiomyop... OMIM:212720
Abnormality of the ulna, Cone-shaped epiphysis, Midface retrusion, Epiphyseal stippling, Brachyce... ORPHA:950
Multicentric Osteolysis, Nodulosis, And Arthropathy
Protrusio acetabuli, Sclerotic cranial sutures, Distal tapering of metatarsals, Metacarpal osteol... OMIM:259600
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Mitral regurgitation, Frontal bossing, Postaxial polydactyly OMIM:603387
Chromosome 2Q37 Deletion Syndrome
Brachycephaly, Short metatarsal, Short metacarpal, Short toe, Midface retrusion, Short phalanx of... OMIM:600430
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Tapered finger, Small hand, Sandal gap, Short foot, Clinodactyly OMIM:618089
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Clinodactyly of the 5th finger, Complete duplication of the 1st metatarsal, Preaxial polydactyly OMIM:129540
Craniosynostosis 6
Plagiocephaly, Brachycephaly, Craniosynostosis, Turricephaly, Delayed cranial suture closure, Spi... OMIM:616602
Microphthalmia, Syndromic 6
Plagiocephaly, Toe syndactyly, Short middle phalanx of finger, Microphthalmia, Polydactyly, Singl... OMIM:607932
Meckel Syndrome
Microphthalmia, Anophthalmia, Bowing of the long bones, Aplasia/Hypoplasia of the iris, Oligohydr... ORPHA:564
Polydactyly, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, ... OMIM:612651
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Humeroradial Synostosis With Craniofacial Anomalies
Tarsal synostosis, Plagiocephaly, Brachycephaly, Frontal bossing, Carpal synostosis, Humeroradial... OMIM:236410
Cebalid Syndrome
Plagiocephaly, Brachycephaly, Platystencephaly, Turricephaly, Midface retrusion, Dolichocephaly OMIM:618774
Roberts Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... ORPHA:3103
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Craniosynostosis, Brachycephaly OMIM:612247
Monosomy 18P
Hypertension, Microphthalmia, Brachycephaly, Brachydactyly, Lymphedema ORPHA:1598
German Syndrome
Brachycephaly, Camptodactyly of finger, Midface retrusion, Dolichocephaly, Lymphedema ORPHA:2077
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Ulnar deviation of the hand, Brachycephaly, Metaphyseal widening, Polyhydramnios, Wi... OMIM:263210
Joubert Syndrome 37
Frontal bossing, Prominent metopic ridge, Microphthalmia, Postaxial polydactyly OMIM:619185
Microgastria-Limb Reduction Defects Association
Hand oligodactyly, Phocomelia, Anophthalmia, Hypoplasia of the radius, Absent thumb, Hypoplasia o... OMIM:156810
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyly, Hand polyda... OMIM:258860
Cardioacrofacial Dysplasia 1
Limb undergrowth, Genu valgum, Midface retrusion, Postaxial polydactyly OMIM:619142
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Craniosynostosis, Trigonocephaly, Brachydactyly OMIM:618265
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610125
Bresek Syndrome
Plagiocephaly, Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia, Postaxial... ORPHA:85284
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Brachycephaly, Finger syndactyly ORPHA:1514
Contractural Arachnodactyly, Congenital
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Congenital finger flexion contractures,... OMIM:121050
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Brachycephaly, Edema, Frontal bossing, Hip dislocation OMIM:608776
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly, Polyhydramnios ORPHA:521390
Mullegama-Klein-Martinez Syndrome
Frontal bossing, Clinodactyly of the 5th finger, Polydactyly OMIM:301022
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Intrauterine growth retardation, Umbilical hernia, Short distal phalanx of toe, Brachycephaly, Sy... ORPHA:1292
Achard Syndrome
Arachnodactyly, Broad skull, Brachycephaly OMIM:100700
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Brachycephaly, Narrow pelvis bone, Ulnar bowing, Arachnodactyly, Frontal boss... OMIM:207410
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Frontal bossing, Abnormality of the metacarpal bones, Turricephaly, Brachydactyly ORPHA:93262
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Intrauterine growth retardation, Brachycephaly, Frontal bossing, Oligohydramnios,... ORPHA:228390
Craniosynostosis 4
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Optic nerve hypoplasia, Fronta... OMIM:600775
Tarp Syndrome
Intrauterine growth retardation, Talipes equinovarus, Postaxial polydactyly, Large fontanelles, H... OMIM:311900
Hydrolethalus Syndrome 2
Preaxial polydactyly, Postaxial polydactyly OMIM:614120
Cranioectodermal Dysplasia 2
Plagiocephaly, Hypertension, Polydactyly, Cloverleaf skull, Metopic synostosis, Rhizomelia, Hydro... OMIM:613610
Cutis Laxa, Autosomal Recessive, Type Iiia
Intrauterine growth retardation, Adducted thumb, Talipes equinovarus, Brachycephaly, Large fontan... OMIM:219150
Acrofrontofacionasal Dysostosis 2
Brachycephaly, Wide anterior fontanel, Syndactyly, Broad hallux, Hand polydactyly, Broad thumb OMIM:239710
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Brachydactyly, Syndactyly, Femoral b... OMIM:615503
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, Thickened calvaria, Large fontanelles, Brachycephaly, Abnormality of the metaphysis... ORPHA:2780
Larsen-Like Syndrome
Radial deviation of the 4th finger, Talipes equinovarus, Brachycephaly, Frontal bossing, Wide ant... OMIM:608545
Joubert Syndrome 23
Polydactyly OMIM:616490
Otopalatodigital Syndrome Type 2
Fibular aplasia, Omphalocele, Tarsal synostosis, Thickened calvaria, Myelomeningocele, Large font... ORPHA:90652
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Pterygium Colli And Mental Retardation With Facial And Digital Anomalies
Brachycephaly, Broad distal phalanx of finger, Proximal placement of thumb, Edema of the dorsum o... OMIM:600159
Meckel Syndrome, Type 10
Frontal bossing, Postaxial polydactyly OMIM:614175
Lessel-Kreienkamp Syndrome
Plagiocephaly, Pulmonic stenosis, Frontal bossing, Wide cranial sutures, Scaphocephaly, Clinodact... OMIM:619149
Acrofrontofacionasal Dysostosis
Midface retrusion, Brachycephaly, Abnormality of epiphysis morphology, Short distal phalanx of fi... ORPHA:1784
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Microphthalmia, Postaxial polydactyly, Brachycephaly, Broad distal phalanx of... ORPHA:404440
Cleidocranial Dysplasia
Short clavicles, Midface retrusion, Hypoplastic scapulae, Tapered finger, Abnormality of epiphysi... ORPHA:1452
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Pulmonic stenosis, Cranial asymmetry, Aplasia/Hypoplasia of the optic nerve ORPHA:137634
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Brachycephaly, Craniosynostosis, Short distal phalanx of finger, Coxa valga, Clino... ORPHA:2163
Microphthalmia, Syndromic 2
2-3 toe syndactyly, Microphthalmia, Talipes equinovarus, Hammertoe, Anophthalmia, Hand clenching,... OMIM:300166
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Intrauterine growth retardation, Polydactyly, Joint contracture of the hand, Polyhyd... OMIM:247200
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... OMIM:274000
Hamamy Syndrome
Mitral regurgitation, Tapered finger, Brachycephaly, Long fingers, Craniosynostosis, Down-sloping... OMIM:611174
Joubert Syndrome 14
Hypertension, Microphthalmia, Postaxial polydactyly OMIM:614424
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Midface retrusion OMIM:610829
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Microphthalmia, Postaxial polydactyly, Rhizomelia, Preaxial polydactyly, Unicoronal ... OMIM:616300
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Microphthalmia, Triphalangeal thumb, Optic disc hypoplasia, Pectoral... OMIM:607323
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Intrauterine growth retardation, Postaxial polydactyly OMIM:615824
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Brachycephaly, Trigonocephaly, Small hand, Bilateral single transverse palmar creases, Scaphoceph... ORPHA:459061
Abnormal Hair, Joint Laxity, And Developmental Delay
Plagiocephaly, 2-3 toe syndactyly, Sinus bradycardia, Mitral regurgitation, Increased carrying an... OMIM:261990
Cockayne Syndrome Type 1
Anophthalmia, Hypertension ORPHA:90321
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Hunter-Macdonald Syndrome
Metatarsus adductus, 2-3 toe syndactyly, Hypertension, Midface retrusion, Large fontanelles, Brac... OMIM:611962
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Frontal bossing, Midface retrusion OMIM:218350
Joubert Syndrome 15
Polydactyly OMIM:614464
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Mitral regurgitation, Brachycephaly, Aortic regurgitation, Crani... ORPHA:254346
Antley-Bixler Syndrome
Elbow ankylosis, Brachycephaly, Narrow pelvis bone, Craniosynostosis, Arachnodactyly, Frontal bos... ORPHA:83
Suleiman-El-Hattab Syndrome
Polydactyly, Clinodactyly, Inguinal hernia, Brachydactyly, Single transverse palmar crease OMIM:618950
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly, Abnormality of femur morphology, Abnormality of the upper limb, Upper limb asymmet... ORPHA:2063
Cranial asymmetry ORPHA:99802
Joubert Syndrome 16
Polydactyly OMIM:614465
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphedema, Microphthalmia, Anophthalmia, Edema, Pleural effusion, Chylothorax ORPHA:2526
Saethre-Chotzen Syndrome
Absent first metatarsal, Hallux valgus, Buphthalmos, Toe syndactyly, Plagiocephaly, Lambdoidal cr... OMIM:101400
20Q11.2 Microduplication Syndrome
Severe intrauterine growth retardation, Brachycephaly, Trigonocephaly, Short foot, Limited elbow ... ORPHA:363659
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Brachycephaly, Palmar edema, Broad distal phalanx of finger, Enlarged interphalangeal joints, Pro... ORPHA:2988
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Large posterior fontanelle, Decreased calvarial ossification, Microphthalmia, Postaxial polydacty... OMIM:617925
Stevenson-Carey Syndrome
Microphthalmia, Brachycephaly, Joint contracture of the hand, Hip dysplasia, Camptodactyly OMIM:611961
Cranioectodermal Dysplasia 3
Postaxial polydactyly, Sagittal craniosynostosis, Sandal gap, Frontal bossing, Scaphocephaly, Syn... OMIM:614099
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Talipes equinovarus, Tapered finger, Trigonocephaly, Brachycephaly, Prominent met... OMIM:619148
Oculodentodigital Dysplasia, Autosomal Recessive
Broad long bones, Microphthalmia, Large fontanelles, Brachycephaly, Fifth finger distal phalanx c... OMIM:257850
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly OMIM:607361
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia, Inguinal hernia ORPHA:2250
Cooper-Jabs Syndrome
Brachycephaly, Proximal placement of thumb, Frontal bossing, Camptodactyly of finger, Abnormal hi... ORPHA:1488
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Talipes equinovarus, Spatulate thumbs, Abnormally large globe, Broad distal phalan... OMIM:245600
Microphthalmia With Linear Skin Defects Syndrome
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Microphthalmia, Mitral regurgitation, Anopht... ORPHA:2556
Cdags Syndrome
Short clavicles, Brachycephaly, Parietal foramina, Frontal bossing, Delayed cranial suture closur... OMIM:603116
Fraser Syndrome
Omphalocele, Toe syndactyly, Microphthalmia, Myelomeningocele, Anophthalmia, Wide pubic symphysis... ORPHA:2052
Adnp Syndrome
Plagiocephaly, 2-3 toe syndactyly, Polydactyly, Umbilical hernia, Brachycephaly, Trigonocephaly, ... ORPHA:404448
Frontonasal Dysplasia 3
Microphthalmia, Brachycephaly OMIM:613456
2P15P16.1 Microdeletion Syndrome
Metatarsus adductus, Intrauterine growth retardation, Mitral regurgitation, Tapered finger, Brach... ORPHA:261349
Charge Syndrome
Omphalocele, Bifid femur, Absent tibia, Microphthalmia, Hand monodactyly, Anophthalmia, Polyhydra... OMIM:214800
Fraser Syndrome 1
Cutaneous finger syndactyly, Myelomeningocele, Anophthalmia, Aplasia/Hypoplasia of the thumb, Wid... OMIM:219000
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Microphthalmia, Polydactyly, Palmar pits, Parietal bossing,... OMIM:109400
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Multiple Pterygium-Malignant Hyperthermia Syndrome
Plagiocephaly, Metatarsus adductus, Long palm, Talipes equinovarus, Tapered finger, Ulnar deviati... ORPHA:2215
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Hypertension, Brachycephaly, Osteolysis involving bones of the lower limbs, Atrioven... ORPHA:371428
Joubert Syndrome 17
Syndactyly, Polydactyly OMIM:614615
Plagiocephaly, Omphalocele, Hypoplastic scapulae, Abnormality of the metaphysis, Wide anterior fo... ORPHA:2021
Pseudoaminopterin Syndrome
Postaxial polydactyly, Clinodactyly of the 5th toe, Synostosis of carpal bones, Slender finger, F... ORPHA:221120
Charge Syndrome
Bifid femur, Microphthalmia, Intrauterine growth retardation, Anophthalmia, Polyhydramnios, Clino... ORPHA:138
Orofaciodigital Syndrome Type 6
Mesoaxial polydactyly, Foot polydactyly, Preaxial polydactyly, Frontal bossing, Syndactyly, Bipar... ORPHA:2754
Dysostosis, Stanescu Type
Brachycephaly, Abnormality of epiphysis morphology, Bowing of the long bones, Abnormality of the ... ORPHA:1798
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Hip dysplasia, Polydactyly ORPHA:531151
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Polydactyly, Septo-optic dysplasia, Complete duplication of thumb phalanx, Finger syndactyly, Sho... ORPHA:59315
Acrodysostosis 1 With Or Without Hormone Resistance
Broad palm, Intrauterine growth retardation, Epiphyseal stippling, Brachycephaly, Short metatarsa... OMIM:101800
Joubert Syndrome 7
Postaxial hand polydactyly, Postaxial polydactyly OMIM:611560
Baller-Gerold Syndrome
Brachyturricephaly, Aplasia/Hypoplasia of the patella, Hand oligodactyly, Intrauterine growth ret... ORPHA:1225
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Congenital Disorder Of Glycosylation, Type Iil
Hip dysplasia, Intrauterine growth retardation, Peau d'orange, Postaxial polydactyly OMIM:614576
Robinow-Sorauf Syndrome
Plagiocephaly, Broad hallux, Duplication of phalanx of hallux OMIM:180750
Weill-Marchesani Syndrome 1
Broad metatarsal, Broad palm, Mitral regurgitation, Brachycephaly, Microspherophakia, Pulmonic st... OMIM:277600
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Limited elbow extension, Abnormality of pelvic girdle bone morphology, Tib... ORPHA:175
Weill-Marchesani Syndrome 2
Broad metatarsal, Broad palm, Flexion contracture of toe, Mitral regurgitation, Short finger, Bra... OMIM:608328
Craniofacial Microsomia
Anophthalmia, Branchial anomaly, Microphthalmia OMIM:164210
Cree Mental Retardation Syndrome
Large fontanelles, Cutaneous finger syndactyly, Rocker bottom foot, Brachycephaly OMIM:606851
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Talipes equinovarus, Metacarpal synostosis, Cubitus valgus, Turricephaly, Limited elbow extension... ORPHA:95699
Saethre-Chotzen Syndrome
Plagiocephaly, Hallux valgus, Triphalangeal thumb, Brachycephaly, Craniosynostosis, Finger syndac... ORPHA:794
Orofaciodigital Syndrome I
Hypertension, Polydactyly, Myelomeningocele, Abnormality of toe, Radial deviation of finger, Fron... OMIM:311200
Hallermann-Streiff Syndrome
Hypertension, Telangiectasia, Microphthalmia, Brachycephaly, Metaphyseal widening, Pulmonary arte... OMIM:234100
Craniosynostosis-Fibular Aplasia Syndrome
Fibular aplasia, Large fontanelles, Brachycephaly, Wormian bones, Bilateral single transverse pal... ORPHA:1533
Branchiooculofacial Syndrome
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Proximal placement of thumb, Branc... OMIM:113620
Khan-Khan-Katsanis Syndrome
Buphthalmos, Intrauterine growth retardation, Postaxial polydactyly, Tricuspid regurgitation, Fro... OMIM:618460
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Plagiocephaly, Postaxial polydactyly, Optic nerve hypoplasia, Hip dysplasia, Broad hallux, Promin... ORPHA:457284
Carpenter Syndrome 2
Cutaneous finger syndactyly, Midface retrusion, Talipes equinovarus, Aplasia of the middle phalan... OMIM:614976
Opitz-Kaveggia Syndrome
Plagiocephaly, Umbilical hernia, Delayed closure of the anterior fontanelle, Joint contracture of... OMIM:305450
Frank-Ter Haar Syndrome
Flat occiput, Bilateral talipes equinovarus, Buphthalmos, Metatarsus adductus, Talipes equinovaru... OMIM:249420
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Brachycephaly, Hydrops fetalis, Disproportionate shortening of the tibi... OMIM:263520
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Buphthalmos, Tapered finger, Brachycephaly, Long fingers, Rieger anomaly, Prominent metopic ridge... ORPHA:521445
Sweeney-Cox Syndrome
Short clavicles, Brachycephaly, Long fingers, Wide anterior fontanel, Prominent metopic ridge, Mi... OMIM:617746
Meier-Gorlin Syndrome 7
2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Bowing of the legs, Craniosynostosis, Club... OMIM:617063
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Tarp Syndrome
Intrauterine growth retardation, Rocker bottom foot, Postaxial polydactyly, Talipes equinovarus, ... ORPHA:2886
Aymé-Gripp Syndrome
Plagiocephaly, Reduced arm span, Pericarditis, Pericardial effusion, Rocker bottom foot, Tapered ... ORPHA:1272
Joubert Syndrome 21
Anophthalmia OMIM:615636
Bardet-Biedl Syndrome 1
Hypertension, Postaxial polydactyly, Foot polydactyly, Radial deviation of finger, Short foot, Sy... OMIM:209900
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Flat occiput, Broad hallux phalanx, Large fontanelles, Brachycephaly, Broad thumb, Finger syndact... ORPHA:2211
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Proboscis ORPHA:141099
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Proximal femoral metaphyseal irregularity, Abnormal acetabulum morphology, Meningocele, Early oss... ORPHA:397715
Monosomy 9Q22.3
Microphthalmia, Metopic synostosis, Polydactyly, Palmar pits, Trigonocephaly, Umbilical hernia ORPHA:77301
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Polyhydramnios, Preaxial polydactyly, Micromelia, Hydro... OMIM:616546
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Tapered finger, Postaxial polydactyly, Brachycephaly, Small hand, Hip dislocation, Short foot, Hi... OMIM:300968
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Tapered finger, Brachycephaly, Frontal bossing, Bilateral single transverse palma... ORPHA:1236
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Duane Retraction Syndrome
Plagiocephaly, Triphalangeal thumb, Talipes equinovarus, Aniridia, Hypoplastic iris stroma, Optic... ORPHA:233
Peroxisome Biogenesis Disorder 12A (Zellweger)
Scaphocephaly, Wide anterior fontanel, Cranial asymmetry, Delayed closure of the anterior fontanelle OMIM:614886
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Large posterior fontanelle, Plagiocephaly, Brachycephaly, Aplastic clavicle, P... ORPHA:85199
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short 1st metacar... ORPHA:96334
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Intrauterine growth retardation, Polydactyly, Aortic regurgitation... ORPHA:464306
Turnpenny-Fry Syndrome
Plagiocephaly, Prominent interphalangeal joints, Intrauterine growth retardation, Adducted thumb,... OMIM:618371
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Prominent metopic ridge, Polydactyly ORPHA:314655
Humeroradial Synostosis
Humeroradial synostosis, Brachycephaly OMIM:236400
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Postaxial polydactyly OMIM:219730
Degcags Syndrome
Plagiocephaly, Toe syndactyly, Microphthalmia, Polydactyly, Talipes equinovarus, Intrauterine gro... OMIM:619488
Choanal Atresia
Craniosynostosis, Polydactyly ORPHA:137914
Nephronophthisis 13
Polydactyly OMIM:614377
Neurofaciodigitorenal Syndrome
Plagiocephaly, Triphalangeal thumb, Intrauterine growth retardation, Abnormality of the elbow, Br... ORPHA:2673
Culler-Jones Syndrome
Midface retrusion, Postaxial polydactyly OMIM:615849
Pallister-Hall Syndrome
Polydactyly affecting the 4th finger, Broad toe, Mesoaxial polydactyly, Short 4th metacarpal, Umb... ORPHA:672
Camptodactyly Syndrome, Guadalajara, Type I
Toe syndactyly, Hallux valgus, Tubular metacarpal bones, Intrauterine growth retardation, Camptod... OMIM:211910
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Postaxial polydactyly, Long fingers, Edema, Palmoplantar hyperhidrosis, Singl... OMIM:617527
Linear Nevus Sebaceus Syndrome
Plagiocephaly, Microphthalmia, Biparietal narrowing, Frontal bossing, Prominent occiput ORPHA:2612
Okamoto Syndrome
Omphalocele, Polydactyly, Abnormally large globe, Hip dysplasia, Oligohydramnios, Prominent metop... ORPHA:2729
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Brachycephaly, Short metacarpal, Short distal phalanx of finger, Acetabular dyspl... OMIM:201180
Rubinstein-Taybi Syndrome 1
Radial deviation of thumb terminal phalanx, Syndactyly, Broad hallux, Delayed cranial suture clos... OMIM:180849
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of toe, Cranial asymmetry, Abnormality of finger OMIM:163200
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Short 5th toe, Intrauterine growth retardation, Polydactyly, Tapered finger, Aorti... ORPHA:268261
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Metopic synostosis, Talipes equinovarus, Postaxial polydactyly, Optic nerve hypoplasia, Craniosyn... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Metopic synostosis, Talipes equinovarus, Postaxial polydactyly, Optic nerve hypoplasia, Craniosyn... ORPHA:352665
Microphthalmia, Syndromic 1
Short clavicles, Microphthalmia, Anophthalmia, Joint contracture of the hand, Radial deviation of... OMIM:309800
Faciodigitogenital Syndrome, Autosomal Recessive
Broad palm, Metatarsus adductus, Brachycephaly, Down-sloping shoulders, Short foot, Syndactyly, C... OMIM:227330
Simpson-Golabi-Behmel Syndrome, Type 1
Short greater sciatic notch, Talipes equinovarus, Broad toe, 2-3 finger syndactyly, Umbilical her... OMIM:312870
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Polydactyly, Ascites, Postaxial polydactyly, Edema, Broad first metatarsal, ... OMIM:619534
Ayme-Gripp Syndrome
Pericarditis, Tapered finger, Brachycephaly, Craniofacial asymmetry, Delayed cranial suture closu... OMIM:601088
Faciocardiorenal Syndrome
Plagiocephaly, Toe syndactyly, Broad hallux, Clinodactyly, Inguinal hernia OMIM:227280
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Tarsal synostosis, Rocker bottom foot, Cloverleaf skull, Brachycephaly, Craniosynostosis, Ulnar b... OMIM:201750
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly OMIM:619471
Legius Syndrome
Clinodactyly of the 5th finger, Paroxysmal atrial tachycardia, Polydactyly, Pulmonic stenosis ORPHA:137605
Rabson-Mendenhall Syndrome
Cardiomyopathy, Intrauterine growth retardation, Polydactyly ORPHA:769
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia, Preaxial polydactyly OMIM:243605
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Dislocated radial head, Hip dislocation, Mesomelia, Coxa valga, ... OMIM:619297
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Umbilical hernia, Brachycephaly, Finger syndactyly, Short toe, Clinodactyly of the 5... ORPHA:1519
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Intrauterine growth retardation, Polydactyly, Adducted thumb, Cardiac conduction abnormality, Ava... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Intrauterine growth retardation, Polydactyly, Adducted thumb, Cardiac conduction abnormality, Ava... ORPHA:353284
Vater/Vacterl Association
Patent urachus, Triphalangeal thumb, Intrauterine growth retardation, Large fontanelles, Hypoplas... OMIM:192350
Loeys-Dietz Syndrome 2
Talipes equinovarus, Postaxial polydactyly, Umbilical hernia, Craniosynostosis, Joint contracture... OMIM:610168
3Mc Syndrome 3
Preaxial polydactyly, Clinodactyly, Radioulnar synostosis OMIM:248340
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Opitz Gbbb Syndrome, Type Ii
Cranial asymmetry, Umbilical hernia, Craniosynostosis, Pulmonary arterial hypertension, Frontal b... OMIM:145410
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Short femur, Polydactyly, Short humerus ORPHA:17
Ring Chromosome 7 Syndrome
Plagiocephaly, Severe intrauterine growth retardation, Heart murmur, Brachycephaly, Small hand, S... ORPHA:1449
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Curved fingers, Postaxial polydactyly, Tapered finger, Brachycephaly, Small hand, ... ORPHA:480880
Roberts-Sc Phocomelia Syndrome
Severe intrauterine growth retardation, Hand oligodactyly, Microphthalmia, Phocomelia, Brachyceph... OMIM:268300
Lacrimoauriculodentodigital Syndrome
Radial deviation of the 3rd finger, Xerostomia, Absent proximal phalanx of thumb, Hypoplasia of t... OMIM:149730
Joubert Syndrome 39
Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Wiedemann-Rautenstrauch Syndrome
Severe intrauterine growth retardation, 2-3 toe syndactyly, Thickened calvaria, Intrauterine grow... ORPHA:3455
Faciocardiomelic Syndrome
Slender long bone, Polydactyly, Hypoplastic pelvis OMIM:612731
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Septo-optic dysplasia, Optic nerve hypoplasia, Abnormal digit morphology, Hypotension ORPHA:95494
Orofaciodigital Syndrome Xiv
Trigonocephaly, Preaxial polydactyly, Postaxial polydactyly OMIM:615948


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 Rbm45

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 Rbm45.

No publications found that use IMPC mice or data for Rbm45.

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MGI Allele Allele Type Produced
Rbm45tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rbm45tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rbm45tm39338(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rbm45em1(IMPC)J Exon Deletion Mice

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