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Gene: Isyna1 MGI:1919030

Gene Summary

Name:

myo-inositol 1-phosphate synthase A1

Synonyms:

1300017C10Rik, myo-inositol 1-phosphate synthase A1, inositol-3-phosphate synthase 1

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage
abnormal heart looping	Isyna1^em1(IMPC)Bay	HOM	E9.5
abnormal heart morphology	Isyna1^em1(IMPC)Bay	HOM	E9.5
abnormal pharyngeal arch morphology	Isyna1^em1(IMPC)Bay	HOM	E9.5
abnormal somite shape	Isyna1^em1(IMPC)Bay	HOM	E9.5
prenatal lethality	Isyna1^em1(IMPC)Bay	HOM	E18.5
abnormal neural tube closure	Isyna1^em1(IMPC)Bay	HOM	E9.5
abnormal visceral yolk sac morphology	Isyna1^em1(IMPC)Bay	HOM	E9.5
preweaning lethality, incomplete penetrance	Isyna1^em1(IMPC)Bay	HOM	Early adult
abnormal embryo turning	Isyna1^em1(IMPC)Bay	HOM	E9.5
abnormal limb morphology	Isyna1^em1(IMPC)Bay	HOM	E15.5
abnormal tail bud morphology	Isyna1^em1(IMPC)Bay	HOM	E9.5
pale yolk sac	Isyna1^em1(IMPC)Bay	HOM	E9.5
syndactyly	Isyna1^em1(IMPC)Bay	HOM	E15.5
abnormal tail morphology	Isyna1^em1(IMPC)Bay	HOM	E15.5

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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.

Eye Morphology

VIP of left fundus

24 Images

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Eye Morphology

VIP of right eye

24 Images

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Eye Morphology

VIP of left eye

24 Images

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Eye Morphology

VIP of right fundus

24 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

2 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Human diseases caused by Isyna1 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 Isyna1 (0 diseases)
Human diseases predicted to be associated with Isyna1 (411 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Isyna1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal heart morphology, Abnormal hip bone morphology, Abnormality of the neck, Polydactyly, Up...	ORPHA:294975
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Syndactyly, Type Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	OMIM:186100
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin...	ORPHA:1891
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Lambert Syndrome	Branchial anomaly, Ventricular septal defect	ORPHA:1296
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Acropectorovertebral Dysplasia	Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi...	OMIM:102510
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Hydrocephalus, Postaxial hand polydactyly	OMIM:615938
Wahab Syndrome	Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal...	OMIM:615170
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly	ORPHA:2935
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S...	OMIM:610140
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	ORPHA:380
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro...	OMIM:175700
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Spinal Muscular Atrophy With Impaired Intellectual Development	Syndactyly	OMIM:271109
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Verheij Syndrome	Short 5th finger, Branchial cyst, Clinodactyly, Ventricular septal defect, Truncus arteriosus, Sh...	OMIM:615583
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu...	ORPHA:65759
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Single transverse palmar crease, Camptodactyly, Tapered finger	ORPHA:435938
Branchiogenic-Deafness Syndrome	Short distal phalanx of finger, Branchial fistula, Branchial cyst	OMIM:609166
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly	OMIM:185900
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the elbow	ORPHA:3268
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
X-Linked Mandibulofacial Dysostosis	Webbed neck, Pulmonic stenosis, Branchial anomaly, Abnormal mitral valve morphology	ORPHA:1131
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly	OMIM:600384
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta	ORPHA:64754
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve...	OMIM:113000
Aplasia Cutis Congenita	Toe syndactyly, Finger syndactyly, Spinal dysraphism	ORPHA:1114
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus...	ORPHA:93323
Branchiogenic Deafness Syndrome	Short distal phalanx of finger, Osteolytic defects of the distal phalanges of the hand, Branchial...	ORPHA:50815
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Cystic hygroma, Hydranencephaly, Single transverse palmar crease, Neonatal death, 2-3 toe syndact...	OMIM:236500
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ...	OMIM:603546
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ...	OMIM:225280
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Distal 22Q11.2 Microdeletion Syndrome	Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, Branchial fistula, San...	ORPHA:261330
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Micromelia, Finger syndactyly, Tetralogy of Fallot, Situs inversus totalis, En...	ORPHA:1908
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Thickened nuchal skin fold, Myelomeningoce...	ORPHA:2437
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Arachnodactyly, Brach...	OMIM:600325
Holt-Oram Syndrome	Hypoplastic left heart, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ...	ORPHA:392
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Spindle-shaped ...	ORPHA:166024
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar...	ORPHA:370010
Neuralgic Amyotrophy	Redundant neck skin, Upper limb amyotrophy, Scapular winging, Syndactyly	ORPHA:2901
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Clinodactyly, Patent foramen ovale, Brachydactyly, Osteolysis involvi...	ORPHA:88630
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Branchia...	ORPHA:453499
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam...	OMIM:300244
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor...	OMIM:619217
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly, Neural tube defect	OMIM:119580
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus, Syndactyly	OMIM:215850
White Forelock With Malformations	Spina bifida occulta, Clinodactyly of the 5th finger, Atrial septal defect, Finger syndactyly	ORPHA:2475
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ...	ORPHA:2633
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Short neck, Hydrocephalus, Patent ductus arteriosus	ORPHA:251046
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Mesomelic/rhi...	ORPHA:2839
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Abnormal heart morphology, Narrow palm, Holoprosencephaly, Syndactyly	ORPHA:1445
Grange Syndrome	Ventricular septal defect, Patent ductus arteriosus, Short palm, Syndactyly	ORPHA:79094
Monosomy 5P	Small hand, Finger syndactyly, Short neck	ORPHA:281
Holoprosencephaly	Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal pulmonary valv...	ORPHA:2162
Sclerosteosis	Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy...	ORPHA:3152
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, Atrial septal defect, Short distal phalanx of the 5th f...	OMIM:620662
Poland Syndrome	Hypoplasia of deltoid muscle, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Sy...	OMIM:173800
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Palmoplantar keratoderma, Syndactyly	OMIM:613576
Distal 22Q11.2 Microduplication Syndrome	Webbed neck, Toe syndactyly, Branchial fistula, Camptodactyly of finger, Ventricular septal defec...	ORPHA:261337
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Clinodactyly, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular sept...	ORPHA:369891
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Lo...	OMIM:220210
Bardet-Biedl Syndrome 4	Syndactyly, Brachydactyly, Polydactyly	OMIM:615982
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Ventricular septal defect, Hydrocephalus, Syndactyly	OMIM:602501
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli...	ORPHA:3210
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ...	ORPHA:2251
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Periventricular Nodular Heterotopia 1	Clinodactyly, Short finger, Bicuspid aortic valve, Patent ductus arteriosus, Syndactyly	OMIM:300049
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Cantú Syndrome	Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Hypertrophic cardiomyopathy,...	ORPHA:1517
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Ventricular septal defect, Duplication of phalanx of hallux, Atrial se...	OMIM:263630
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Brachydactyly, Clinodactyly, Syndactyly	OMIM:610023
Charlie M Syndrome	Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly	ORPHA:1406
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Broad neck, Prominent fingertip pads, Broad hallux, Camptodactyly...	OMIM:300963
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of th...	OMIM:609638
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Finger syndactyly	ORPHA:1514
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Adams-Oliver Syndrome 5	Umbilical hernia, Patent foramen ovale, Brachydactyly, Right atrial enlargement, Right ventricula...	OMIM:616028
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d...	ORPHA:352665
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Umbilical hern...	ORPHA:915
Branchiootorenal Syndrome 1	Congenital hip dislocation, Branchial fistula, Branchial cyst	OMIM:113650
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Prominent fingertip pads, Branchial anomaly, Single transverse palmar crease, Brachydactyly, Shor...	ORPHA:466950
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Umbilical hernia, Aplasia of...	OMIM:308050
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Abnormality of the wrist, Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb	ORPHA:1825
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ventricular septal defect, Short neck, Short hallux, Dysplastic aortic valve, Pat...	ORPHA:508488
Alg3-Cdg	Metaphyseal chondrodysplasia, Cardiomyopathy, Abnormal limb bone morphology, Neural tube defect	ORPHA:79321
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal...	ORPHA:166119
Craniofrontonasal Dysplasia	Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Low posterior hai...	ORPHA:1520
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ...	OMIM:142900
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fallot, Fibular aplasia, Aplasia/hyp...	ORPHA:3320
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Ventricul...	OMIM:600987
Hypomelanosis Of Ito	Radial deviation of finger, Hand polydactyly, Clinodactyly, Syndactyly	OMIM:300337
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Finger aplasia, Absent toe, Clinodactyly of the 2nd finger, Clinodactyly of the 3rd finger, Clino...	OMIM:620663
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Webbed neck, Tetralogy of Fallot, Overlapping toe, Overlapping fingers, P...	OMIM:618316
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Pfeiffer Syndrome Type 1	Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh...	ORPHA:93258
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, Complete atrioventricular canal defect, 2-3 toe synda...	OMIM:217085
Bor Syndrome	Branchial cyst	ORPHA:107
Filippi Syndrome	2-4 toe syndactyly, Finger clinodactyly, Single transverse palmar crease, Ventricular septal defe...	OMIM:272440
Weaver Syndrome	Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Talipes equinovarus, Large h...	ORPHA:3447
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Short...	ORPHA:2994
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Tetralogy of Fallot, Absent hand, Abnormal pul...	ORPHA:974
Triploidy	Finger syndactyly, Short neck, Hydrocephalus, Abnormal cardiac septum morphology, Meningocele, Ho...	ORPHA:3376
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup...	OMIM:135750
Adams-Oliver Syndrome 6	Foot oligodactyly, Truncus arteriosus, Ventricular septal defect, Brachydactyly, Syndactyly	OMIM:616589
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Small placenta, Polydactyly, Clinodactyly of the 5th finger, Synd...	ORPHA:397590
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy...	ORPHA:1319
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik...	OMIM:605282
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
Cutis Laxa, Autosomal Recessive, Type Iie	Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Hip dislocation, S...	OMIM:619451
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Ventricular septal defect, Hypo...	ORPHA:2256
Meckel Syndrome 14	Postaxial foot polydactyly, Occipital encephalocele, Increased nuchal translucency, Bowing of the...	OMIM:619879
Oligomeganephronia	Secundum atrial septal defect, Branchial cyst	ORPHA:2260
ERI1-related disease	Slender metacarpals, Oligodactyly, Abnormal heart morphology, Clinodactyly of the 5th finger, Lim...	OMIM:608739
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra...	ORPHA:1515
Kbg Syndrome	Webbed neck, Finger clinodactyly, Single transverse palmar crease, Short neck, Cutaneous syndacty...	ORPHA:2332
Mosaic Trisomy 16	Craniofacial asymmetry, Short forearm, Short thumb, Clinodactyly, Abnormal heart morphology, Larg...	ORPHA:1708
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615986
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Umbilical hernia, Mitral valve prolapse, Cubitus valgus, Hydrocephalu...	OMIM:104350
Pfeiffer Syndrome	Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin...	OMIM:101600
Chromosome 13Q33-Q34 Deletion Syndrome	Short thumb, Delayed eruption of teeth, Overlapping toe, Distally placed thumb, Encephalocele, Si...	OMIM:619148
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Alkuraya-Kucinskas Syndrome	Hand clenching, Webbed neck, Clinodactyly, Overlapping toe, Overlapping fingers, Talipes equinova...	OMIM:617822
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, Finger syndactyly, Tetralogy of Fallot, Atrioventr...	ORPHA:7
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Short neck, Spina bifida occulta, M...	ORPHA:2311
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Radioulnar synostosis, Pulmonic stenosis, Hypoplasia of the radius, Hypoplasia of t...	OMIM:212780
Rubinstein-Taybi Syndrome 2	Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Synda...	OMIM:613684
Kury-Isidor Syndrome	Finger syndactyly, Ventricular septal defect, Talipes equinovarus, Short neck, Brachydactyly, Hip...	OMIM:619762
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Ventricular septal defect, Postaxial polydactyly, Brachydactyly, Hy...	OMIM:617895
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Syndactyly	OMIM:619091
Limb-Mammary Syndrome	Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly	OMIM:603543
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Neonatal dea...	OMIM:146510
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Finger syndactyly, Umbilical hernia, Bilateral single transverse palm...	ORPHA:1001
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Pericardial lymphangiectasia, Syndactyly	OMIM:616006
Craniosynostosis, Herrmann-Opitz Type	Webbed neck, Micromelia, Finger syndactyly, Brachydactyly, Split hand	ORPHA:2145
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty...	OMIM:252100
Acrofacial Dysostosis, Catania Type	Webbed neck, Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Spina bif...	ORPHA:1786
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic...	OMIM:618164
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Arachnodactyly, Clinodactyly, Syndactyly	OMIM:619092
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long...	OMIM:614091
Laurence-Moon Syndrome	Hand polydactyly, Brachydactyly, Finger syndactyly, Bilateral single transverse palmar creases	ORPHA:2377
Acrofacial Dysostosis, Palagonia Type	Small hand, Finger syndactyly, Short 4th metacarpal, Short neck, Spina bifida occulta	ORPHA:1787
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Short neck, Brachydactyly, Hip dyspla...	ORPHA:710
Limb Body Wall Complex	Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s...	ORPHA:2369
Acrofrontofacionasal Dysostosis 2	Broad thumb, Broad hallux, Redundant neck skin, Hand polydactyly, Thickened nuchal skin fold, Syn...	OMIM:239710
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology...	ORPHA:251014
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Clinodactyly, Cardiomyopathy, Redundant neck skin, Short neck, Brachydactyly, Abnormal cardiac se...	OMIM:217980
17Q12 Microduplication Syndrome	Atrial septal defect, Toe syndactyly, Finger syndactyly	ORPHA:261272
Constricting Bands, Congenital	Encephalocele, Talipes equinovarus, Hand polydactyly, Ectopia cordis, Syndactyly	OMIM:217100
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Monkey wrench femoral neck, Single transvers...	OMIM:615777
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Neonatal death, V...	OMIM:256520
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis,...	ORPHA:2008
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Prominent fingertip pads, Clinodactyly, Radial deviat...	OMIM:305450
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Natal tooth, Broad hallux, Branchial cyst, Clinodactyly, Single transverse palmar crease, Patent ...	OMIM:620186
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Curry-Jones Syndrome	Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Duplicatio...	OMIM:601707
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Short neck, Br...	OMIM:268310
Focal Dermal Hypoplasia	Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph...	ORPHA:2092
X Small Rings	Toe syndactyly, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, Ventricular sept...	ORPHA:96201
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, ...	OMIM:614701
Cenani-Lenz Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol...	ORPHA:3258
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly	OMIM:114150
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ...	ORPHA:1788
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Delayed eruption of teeth, Decrea...	ORPHA:2980
Poland Syndrome	Small hand, Finger syndactyly, Encephalocele, Low posterior hairline, Aplasia/Hypoplasia of the t...	ORPHA:2911
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly	OMIM:601163
Endocrine-Cerebroosteodysplasia	Natal tooth, Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single ...	OMIM:612651
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Delayed eruption of teeth, Syndactyly	OMIM:619736
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc...	ORPHA:1106
Aarskog-Scott Syndrome	Short 5th finger, Clinodactyly, Radial deviation of finger, Single transverse palmar crease, Shor...	OMIM:305400
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,...	ORPHA:93259
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Neu-Laxova Syndrome 2	Toe syndactyly, Finger syndactyly, Short neck, Spina bifida, Rocker bottom foot	OMIM:616038
Apert Syndrome	Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca...	OMIM:101200
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal defect, Postaxial poly...	OMIM:615503
Timothy Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Cutaneous syn...	OMIM:601005
Fg Syndrome Type 1	Broad neck, Clinodactyly of the 2nd finger, Finger syndactyly, Umbilical hernia, Abnormal thumb m...	ORPHA:93932
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomyopathy, Camptodactyly of toe, Cardiomegaly, 2-3 finger syndactyly, 4-5 finge...	ORPHA:158687
Schizophrenia 1	Short proximal phalanx of the 4th toe, Syndactyly	OMIM:181510
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Broad thumb, Bi...	ORPHA:1507
Isolated Split Hand-Split Foot Malformation	Oligodactyly, Absent hand, Split hand, Finger syndactyly	ORPHA:2440
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Sandal gap, Finger syndactyly, Ventricular septal defect, Deep palmar crease, S...	ORPHA:254346
Tarp Syndrome	Clinodactyly, Tetralogy of Fallot, Single transverse palmar crease, Neonatal death, Postaxial pol...	OMIM:311900
Curry-Jones Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p...	ORPHA:1553
Treacher-Collins Syndrome	Patent ductus arteriosus, Branchial fistula, Encephalocele	ORPHA:861
Femoral-Facial Syndrome	Toe syndactyly, Humeroradial synostosis, Encephalocele, Limited elbow movement, Ventricular septa...	OMIM:134780
Oculodentodigital Dysplasia	Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact...	ORPHA:2710
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me...	ORPHA:3429
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Branchial fistula, Short thumb, Clinodactyly, Radial deviation of fin...	OMIM:613406
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd...	ORPHA:887
Vater/Vacterl Association	Occipital encephalocele, Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Ventricular sept...	OMIM:192350
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Small hand, Patent ductus arteriosus, Syndactyly	OMIM:616489
Filippi Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Clinoda...	ORPHA:3255
Joubert Syndrome 33	Syndactyly	OMIM:617767
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Umbilical hernia, Syndactyly	OMIM:614520
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly, Subvalvular aortic stenosis, Patent ductus arteriosus	ORPHA:1338
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Short neck, Brachydactyly,...	OMIM:614800
Ring Chromosome 12 Syndrome	Webbed neck, Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Abnormal 5t...	ORPHA:1439
20P13 Microdeletion Syndrome	Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly	ORPHA:313781
Robinow Syndrome, Autosomal Dominant 3	Webbed neck, Broad thumb, Clinodactyly, Patent foramen ovale, Ventricular septal defect, Short ne...	OMIM:616894
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Umbilical hernia, Increased nuchal translucency, Ventricular septal defe...	OMIM:620654
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Bohring-Opitz Syndrome	Short toe, Overlapping toe, Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Tape...	OMIM:605039
Hamamy Syndrome	Complete atrioventricular canal defect, Down-sloping shoulders, Low posterior hairline, Long toe,...	OMIM:611174
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydactyly, Umbilic...	OMIM:200990
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Postaxial foot polydactyly, Finger syndactyly, Tetralogy of Fallot, Ventr...	ORPHA:2473
Isolated Posterior Meningocele	Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocel...	ORPHA:268810
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Short distal phalanx of the 5th finger, Short middle phalanx of t...	OMIM:180860
Meckel Syndrome, Type 1	Webbed neck, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial deviation ...	OMIM:249000
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Umbilical hernia, Abnormal...	ORPHA:261318
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Toe syndactyly, Finger syndactyly, Hand polydactyly, Hydrocephalus, Foot polydactyly	ORPHA:60040
Orofaciodigital Syndrome Type 6	Finger clinodactyly, Preaxial polydactyly, Abnormal heart morphology, Hand polydactyly, Mesoaxial...	ORPHA:2754
Cri-Du-Chat Syndrome	Single transverse palmar crease, Short neck, Metatarsus adductus, Short metatarsal, Short metacar...	OMIM:123450
Autosomal Recessive Multiple Pterygium Syndrome	Webbed neck, Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Abnormal aortic valve ...	ORPHA:2990
Robinow Syndrome	Short distal phalanx of finger, Radioulnar dislocation, Umbilical hernia, Abnormal heart morpholo...	ORPHA:97360
Multiple Pterygium-Malignant Hyperthermia Syndrome	Webbed neck, Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, ...	ORPHA:2215
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Ventricular sept...	ORPHA:217346
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Broad hall...	ORPHA:2211
Branchiooculofacial Syndrome	Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Branchial anomaly, Single tran...	OMIM:113620
Multiple Pterygium Syndrome, Escobar Variant	Ulnar deviation of finger, Umbilical hernia, Patellar aplasia, Acetabular dysplasia, Down-sloping...	OMIM:265000
Pfeiffer Syndrome Type 3	Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Short hallux, Aqueducta...	ORPHA:93260
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Ventricular septal defect, Aplasia of the distal pha...	ORPHA:3472
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Orofaciodigital Syndrome I	Clinodactyly, Radial deviation of finger, Myelomeningocele, Abnormal heart morphology, Polydactyl...	OMIM:311200
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal metacarpal morphology, Toe syndactyly, Short hallux, Finger syndactyly	ORPHA:3224
Iniencephaly	Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Talipes equinovarus, Spina bifida...	ORPHA:63259
Cohen Syndrome	Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Mitral valve prolapse, ...	ORPHA:193
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:1323
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly	OMIM:618087
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Atrial septal defect, Hip dislo...	ORPHA:84
Blepharonasofacial Malformation Syndrome	Low posterior hairline, Finger syndactyly	ORPHA:1252
Basel-Vanagaite-Smirin-Yosef Syndrome	Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Overlapping toe, Contracture of the...	ORPHA:464738
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p...	ORPHA:3103
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Natal tooth, Finger syndactyly, Short tibia, Complete duplication of ha...	ORPHA:2751
Jacobsen Syndrome	Toe clinodactyly, Webbed neck, Aortic valve stenosis, Toe syndactyly, Hypoplastic left heart, Fin...	ORPHA:2308
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Short ...	ORPHA:958
Townes-Brocks Syndrome 1	Broad thumb, Pseudoepiphyses of second metacarpal, Ventricular septal defect, Atrial septal defec...	OMIM:107480
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Clinodactyly, Syndactyly	ORPHA:2169
Teebi-Shaltout Syndrome	Aortic valve stenosis, Caudal appendage, Single transverse palmar crease, Ventricular septal defe...	OMIM:272950
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Rubinstein-Taybi Syndrome	Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, B...	ORPHA:783
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Arachnodactyly, Toe syndactyly, Finger syndactyly, Short palm	ORPHA:73246
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Mitral valve prolapse, Ventricular septal defect, Low poster...	OMIM:180849
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Hand polydactyly, ...	ORPHA:1647
Bartsocas-Papas Syndrome	Aplasia/Hypoplasia of the distal phalanges of the toes, Toe syndactyly, Absent thumb, Finger synd...	ORPHA:1234
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Brachydactyly, Cli...	ORPHA:1005
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger	ORPHA:246
Craniofacial Microsomia 1	Occipital encephalocele, Tetralogy of Fallot, Genu valgum, Branchial anomaly, Partial duplication...	OMIM:164210
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Lenz-Majewski Hyperostotic Dwarfism	Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow flexion contract...	OMIM:151050
Grange Syndrome	Coronary artery stenosis, Finger clinodactyly, Bicuspid aortic valve, Brachydactyly, Syndactyly	OMIM:602531
8Q22.1 Microdeletion Syndrome	Sandal gap, Short neck, Finger syndactyly, Camptodactyly of finger	ORPHA:178303
Rothmund-Thomson Syndrome, Type 3	Short distal phalanx of finger, Talipes equinovarus, Short digit, Brachydactyly, Proximal placeme...	OMIM:615789
Rhombencephalosynapsis	Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Complete duplication of t...	ORPHA:59315
Specc1L-Related Hypertelorism Syndrome	Short toe, Finger syndactyly, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, A...	ORPHA:1519
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Cerebrofacioarticular Syndrome	Caudal appendage, Abnormal heart morphology, Talipes equinovarus, Camptodactyly, Pulmonic stenosi...	ORPHA:314679
Kbg Syndrome	Webbed neck, Radial deviation of finger, Ulnar deviation of the 2nd finger, Single transverse pal...	OMIM:148050
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Webbed neck, Broad thumb, Toe syndactyly, Finger syndactyly, Short to...	ORPHA:373
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Bicuspid pulmonary valve, Umbilical hernia, Absent distal phalange...	OMIM:610168
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Left ventricular h...	OMIM:209900
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Ventricular septal defect, Short neck, Abnormal me...	ORPHA:818
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Ulnar bowi...	OMIM:263650
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly	OMIM:149000
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Ventricular septal defect, Short neck, Abnormal metacarpal morphology, Atrial septa...	OMIM:268300
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Microphthalmia, Lenz Type	Webbed neck, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Abnormal shou...	ORPHA:568
Apert Syndrome	Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Delayed eruption of teeth, Aplasia/Hy...	ORPHA:87
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th...	ORPHA:570
Incontinentia Pigmenti	Deviation of finger, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Umbil...	ORPHA:464
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Clinodactyly, Abnormal heart morphology, Syndactyly, Brachydactyly, Clinodactyly of the 5th finge...	ORPHA:96182
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Tetralogy of Fallot, Single trans...	ORPHA:2886
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Pili Torti-Onychodysplasia Syndrome	Cutaneous syndactyly, Palmoplantar keratoderma	ORPHA:2890
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, 2-3 finger syndactyly, Cortically de...	OMIM:269500
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Schinzel-Giedion Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Delayed eruption of teeth, Umbilical hernia...	ORPHA:798
Prader-Willi Syndrome	Small hand, Radial deviation of finger, Clinodactyly, Genu valgum, Narrow palm, Hip dysplasia, Ac...	OMIM:176270
Peters-Plus Syndrome	Square pelvis bone, Limited elbow movement, Ventricular septal defect, Short neck, Atrial septal ...	OMIM:261540
Chromosome 8Q21.11 Deletion Syndrome	Short neck, Syndactyly, Camptodactyly, Short metacarpal, Absent palmar crease	OMIM:614230
Cranioectodermal Dysplasia 2	Rhizomelia, Clinodactyly, Patent foramen ovale, Polydactyly, Short neck, Left ventricular hypertr...	OMIM:613610
Saethre-Chotzen Syndrome	Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases, Triphalangeal thumb, ...	ORPHA:794
Stolerman Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Broad palm, Syndactyly	OMIM:618505
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Upper...	ORPHA:989
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micromelia, Umbilical hernia, Avas...	ORPHA:3107
Faciodigitogenital Syndrome, Autosomal Recessive	Long neck, Down-sloping shoulders, Broad palm, Metatarsus adductus, Camptodactyly, Clinodactyly o...	OMIM:227330
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Proximal placement of thumb, Finger syndactyly	ORPHA:139471
Fontaine Progeroid Syndrome	Short distal phalanx of finger, Umbilical hernia, Abnormal heart morphology, Absent distal phalan...	OMIM:612289
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Short thumb, Radioulnar synostosis, Hypoplasia of the radius, Hypopla...	OMIM:263750
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly	ORPHA:66629
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Short neck, Abnormal metacarpal morphology, Absent pa...	ORPHA:284160
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Monosomy 13Q14	Webbed neck, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Short neck, Brachydactyly, Clino...	ORPHA:1587
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Talipes equinovarus, Cutaneous syndactyly, Camptodactyly, 3-4 finge...	OMIM:620029
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Toe syndactyly, Palmoplantar hyperkeratosis, Finger syndactyly, Bilateral single transverse palma...	ORPHA:3253
Diaphragmatic Hernia 4, With Cardiovascular Defects	Webbed neck, Finger syndactyly, Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovaru...	OMIM:620025
Fraser Syndrome 3	Hydrocephalus, Cutaneous syndactyly, Short toe, Stillbirth	OMIM:617667
Neurocardiofaciodigital Syndrome	Tetralogy of Fallot, Polydactyly, Atrial septal defect, Double inlet left ventricle, Patent ductu...	OMIM:619869
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, V...	OMIM:216340
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Broad distal phalanx of finger, Broad thumb, Natal tooth, Broad hallux, Ab...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Broad distal phalanx of finger, Broad thumb, Natal tooth, Broad hallux, Ab...	ORPHA:353277
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Sirenomelia, Aplasia/Hypoplasia of the phalange...	ORPHA:79500
Lenz-Majewski Hyperostotic Dwarfism	Aplastic clavicle, Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis, Brachydact...	ORPHA:2658
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Bilateral single transverse palmar creas...	ORPHA:264200
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Webbed neck, Low posterior hairline, Unila...	ORPHA:1521
Orofaciodigital Syndrome Type 1	Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty...	ORPHA:2750
Degcags Syndrome	Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Patent foramen ovale, Polyda...	OMIM:619488
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormal mitral valve morphology, Finger syndactyly, Genu varum	ORPHA:1969
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Syndactyly	OMIM:129400
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Long neck, Down-sloping shoulders, Brachydactyly, Clinodactyly of the 5th fing...	ORPHA:1974
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Short neck, Clinodactyly of the 5th finger, C...	ORPHA:96123
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent foramen ovale, Ventricular septal defect, Hip dysplasia, Clinodactyly of the 5th finger, P...	OMIM:616975
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Palmoplantar keratoderma, Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect...	ORPHA:1071
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Abnormal thumb morpho...	ORPHA:2363
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Split hand, Finger syndactyly	ORPHA:1300
Semilobar Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Hip dislocation, Neural tube defect	ORPHA:220386
Alobar Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Hip dislocation, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Hip dislocation, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Hip dislocation, Neural tube defect	ORPHA:93924
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly	OMIM:616430
Biliary, Renal, Neurologic, And Skeletal Syndrome	Common atrium, Unbalanced atrioventricular canal defect, Broad thumb, Secundum atrial septal defe...	OMIM:619534
Limb-Mammary Syndrome	Toe syndactyly, Oligodactyly, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Sy...	ORPHA:69085
Eec Syndrome	Toe syndactyly, Finger syndactyly, Ectrodactyly, Aplasia/Hypoplasia of the thumb, Split hand, Pro...	ORPHA:1896
Dubowitz Syndrome	Clinodactyly of the 5th finger, Delayed eruption of teeth, Single transverse palmar crease, Synda...	OMIM:223370
Adult Syndrome	Toe syndactyly, Finger syndactyly, Split foot	ORPHA:978
Scalp-Ear-Nipple Syndrome	Broad thumb, Finger syndactyly, 2-3 toe syndactyly, Cardiac myxoma, Clinodactyly of the 5th finge...	OMIM:181270
Cutis Marmorata Telangiectatica Congenita	Toe syndactyly, Finger syndactyly, Abnormality of the upper limb, Short lower limbs, Patent ductu...	ORPHA:1556
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Sandal gap, Umbilical hernia, Ventricular septal defect, Short neck, Cutaneous ...	OMIM:620330
Hartsfield Syndrome	Semilobar holoprosencephaly, Alobar holoprosencephaly, Ectrodactyly, Lobar holoprosencephaly, Syn...	OMIM:615465
Bloom Syndrome	Clinodactyly of the 5th finger, Hand polydactyly, Syndactyly	OMIM:210900
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Finger syndactyly, Cardiomyopathy, Abnormal heart morph...	ORPHA:110
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Ence...	ORPHA:2052
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Trichorhinophalangeal Syndrome, Type Ii	2-4 toe syndactyly, Cone-shaped epiphyses of the phalanges of the hand, Avascular necrosis of the...	OMIM:150230
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor...	ORPHA:2907
Hennekam Syndrome	Delayed eruption of teeth, Pericardial effusion, Finger syndactyly, Camptodactyly of finger	ORPHA:2136
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
Coffin-Siris Syndrome 12	Slender finger, Broad thumb, Short thumb, Tetralogy of Fallot, Patent foramen ovale, Radioulnar s...	OMIM:619325
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, Postaxial hand polydactyly	OMIM:236700
Proteus Syndrome	Macrodactyly, Finger syndactyly, Abnormality of the wrist, Sirenomelia, Metatarsus valgus, Abnorm...	ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Broad hallux, Delayed eruption of teeth, Abnormal heart morphology, Long h...	ORPHA:261537
Fraser Syndrome 2	Short neck, Cutaneous syndactyly	OMIM:617666
Genitourinary And/Or Brain Malformation Syndrome	Holoprosencephaly, Syndactyly	OMIM:618820
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Broad hallux, Delayed eruption of teeth, Abnormal heart morphology, Long h...	ORPHA:261552
Mowat-Wilson Syndrome	Aortic valve stenosis, Broad hallux, Delayed eruption of teeth, Abnormal heart morphology, Tetral...	ORPHA:2152
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short...	ORPHA:2908
Microphthalmia, Syndromic 6	Toe syndactyly, Finger syndactyly, Thumb contracture, Single transverse palmar crease, Polydactyl...	OMIM:607932
Microphthalmia, Syndromic 1	Webbed neck, Joint contracture of the hand, Prominent fingertip pads, Clinodactyly, Radial deviat...	OMIM:309800

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 Isyna1

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 Isyna1.

No publications found that use IMPC mice or data for Isyna1.

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MGI Allele	Allele Type	Produced
Isyna1^{tm438165(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Isyna1^em1(IMPC)Bay	Exon Deletion	Mice
Isyna1^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

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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Gene: Isyna1 MGI:1919030

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Eye Morphology

Eye Morphology

MicroCT E14.5-E15.5

Electrocardiogram (ECG)

Human diseases caused by Isyna1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data