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Gene: Pals2 MGI:1927340

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Gene Summary

Name:
protein associated with LIN7 2, MAGUK family member
Synonyms:
Mpp6,  P55t,  Pals2

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 System Allele Zyg Sex Life Stage P Value
abnormal stomach morphology Pals2em1(IMPC)Rbrc HOM Early adult 0.00
fusion of vertebral arches Pals2em1(IMPC)Rbrc HOM   Early adult 4.49×10-05
increased total body fat amount Pals2em1(IMPC)Rbrc HOM   Early adult 4.30×10-05
decreased bone mineral content Pals2em1(IMPC)Rbrc HOM Early adult 2.74×10-07
decreased body length Pals2em1(IMPC)Rbrc HOM Early adult 1.47×10-07
abnormal spleen morphology Pals2em1(IMPC)Rbrc HOM Early adult 0.00
short tibia Pals2em1(IMPC)Rbrc HOM Early adult 1.09×10-21
abnormal bone structure Pals2em1(IMPC)Rbrc HOM Early adult 8.51×10-08

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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.

Gross Pathology and Tissue Collection

Images

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Human diseases caused by Pals2 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 Pals2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... OMIM:118651
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Eiken Syndrome
Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Epiph... ORPHA:79106
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equinovalgus, Hip d... OMIM:605274
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, F... OMIM:620076
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High ... ORPHA:93315
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi... OMIM:612447
Diaphanospondylodysostosis
Short neck, Missing ribs, Cleft palate, Narrow pelvis bone, Absent or minimally ossified vertebra... ORPHA:66637
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... ORPHA:166016
Atelosteogenesis Type Iii
Micrognathia, Short tubular bones of the hand, Knee dislocation, High palate, Short tibia, Verteb... ORPHA:56305
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Orofaciodigital Syndrome Viii
Syndactyly, Cleft palate, High palate, Polydactyly, Short tibia OMIM:300484
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... OMIM:171480
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Blount Disease
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... ORPHA:2768
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Cleft palate, Lobulated... OMIM:258860
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... ORPHA:356961
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Stuve-Wiedemann Syndrome 1
Enlarged joints, Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee flexion contractur... OMIM:601559
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane... OMIM:178110
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Cleft palate, Abnormal shoulder morphology, Abnormality o... ORPHA:2345
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Intestinal m... ORPHA:3035
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... OMIM:112350
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, High palate, Talipes equinov... OMIM:201170
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
Caffey Disease
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... OMIM:114000
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... OMIM:251230
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Short palm, L... ORPHA:198
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... ORPHA:370010
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Cleft palate, Clinodactyly of the 5th finger,... OMIM:244600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus OMIM:618845
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... OMIM:602111
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Micrognathia, Kyphosis, Congenital pyloric atresia, Reduced bone mineral density, Ve... ORPHA:2617
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthritis, Generalized joint laxit... OMIM:618000
Aarskog-Scott Syndrome
Finger syndactyly, Pes planus, Inguinal hernia, Genu recurvatum, Talipes, Camptodactyly of finger... ORPHA:915
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... OMIM:268305
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Exaggerated median tongue furrow... ORPHA:313892
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Scoliosis, Butterfly ve... OMIM:122600
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Micrognathia, Abnormal sacrum morphology, Coxa vara, Abnormal fibul... ORPHA:1988
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis,... ORPHA:2916
Shox-Related Short Stature
Micrognathia, Short neck, Madelung deformity, Genu valgum, Short foot, Tibial bowing, Forearm und... ORPHA:314795
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf m... OMIM:606612
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Orofaciodigital Syndrome Ix
Toe syndactyly, Cleft palate, Hand polydactyly, High palate, Camptodactyly, Short tibia OMIM:258865
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ... OMIM:613091
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ... OMIM:258315
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Omphalocele, Anal atresia, Rhizomelia, Postaxial polydactyly, Hamartoma of ton... OMIM:616300
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa... OMIM:608940
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... OMIM:108721
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... OMIM:305620
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... OMIM:108720
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... OMIM:156550
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Short nec... OMIM:613686
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... ORPHA:2332
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Postaxial polydactyly, Micrognathia, Short neck, Hamartoma of tongue, Esophag... OMIM:617925
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... OMIM:307800
Frontometaphyseal Dysplasia
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult... ORPHA:1826
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Scoliosis, Thoracic hemivertebrae, Clinodactyly ORPHA:1445
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes... OMIM:607143
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Verheij Syndrome
Joint laxity, Vertebral fusion, Short neck, Hip dislocation, Hemivertebrae, Cleft palate, Short 5... OMIM:615583
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Gastric varix, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:214300
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Flexion contracture, Congenital pyloric atresia OMIM:612138
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... OMIM:150250
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:600081
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Wormian bones, Recurrent fractures, Fe... OMIM:610915
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ... OMIM:613848
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Post... OMIM:263520
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c... OMIM:265000
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... ORPHA:64743
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscle hypertrophy, ... OMIM:607155
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Hypoplastic iliac wi... ORPHA:96334
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis, Camptodac... OMIM:614262
Gorlin Syndrome
Vertebral fusion, Arachnodactyly, Plantar pits, Hemivertebrae, Vertebral wedging, Scoliosis, Brac... ORPHA:377
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphol... ORPHA:959
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Bone pain, Osteolytic d... OMIM:161700
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Micro... ORPHA:2538
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... OMIM:119800
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Periventricular Nodular Heterotopia
Pyloric stenosis, Shoulder dislocation, Gastroesophageal reflux, Patellar dislocation, Hernia, Sc... ORPHA:98892
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... OMIM:300554
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, High palate, Cervical C2/... OMIM:616549
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Splenomegaly, Periostitis, Osteolysis, Fus... OMIM:612852
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia... OMIM:164900
Lateral Meningocele Syndrome
Vertebral fusion, Inguinal hernia, Short neck, Micrognathia, Kyphosis, Cleft palate, Keloids, Scl... OMIM:130720
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, ... OMIM:206920
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... OMIM:259420
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P... OMIM:603671
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Thrombocytopenia, Paris-Trousseau Type
Micrognathia, Pyloric stenosis, Radial deviation of finger, Clinodactyly, Thrombocytopenia OMIM:188025
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Kyphosis, High, narrow palat... ORPHA:96169
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... ORPHA:3027
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:241530
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Plantar pits, Irregular ossification of... OMIM:109400
Bronchogenic Cyst
Back pain, Abnormal peritoneum morphology, Abnormal stomach morphology, Abnormal lumbar spine mor... ORPHA:2357
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Shor... OMIM:271520
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Micrognathia, Kyphosis, Fused cervical vertebrae, Abnormal hip bone mo... ORPHA:2522
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... OMIM:203500
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis, Congenital hip dislocation, Short 5th finger, Rocker bottom foot OMIM:133705
Autosomal Recessive Hypophosphatemic Rickets
Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Sclerotic vertebral en... ORPHA:289176
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... OMIM:231070
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Omodysplasia 2
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume... OMIM:164745
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmenta... OMIM:118100
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Accelerated skeletal mat... ORPHA:373
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Pes planus, Sandal gap, Short h... OMIM:607323
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Hypoplasia of the ulna... OMIM:200980
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... ORPHA:140
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Pyloric stenosis, Positional ... OMIM:610443
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... OMIM:300009
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Systemic Sclerosis
Abnormal phalangeal joint morphology of the hand, Abnormal small intestine morphology, Abnormalit... ORPHA:90291
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... OMIM:165590
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... ORPHA:1788
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Elbow contracture, Short metatarsal, Finger clinodactyly, High palate... OMIM:617137
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly, Enamel hypoplasia, Pyloric stenosis, Atrophic scars OMIM:226700
Fg Syndrome 3
Pyloric stenosis, Joint contracture, Broad hallux, Broad thumb OMIM:300406
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Micrognathia, Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Scoliosis, Cli... ORPHA:96184
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pes planus, Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Sacral di... OMIM:213980
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Aicardi Syndrome
Intestinal polyposis, Block vertebrae, Missing ribs, Hiatus hernia, Malabsorption, Small hand, Cl... ORPHA:50
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Acute leukemia ORPHA:281090
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Short ne... ORPHA:233
Fanconi Anemia, Complementation Group I
Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Bone m... OMIM:609053
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Lamb-Shaffer Syndrome
Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Inguinal hernia, Down-sloping shoulders, Metatarsus adductus, Hyper... OMIM:227330
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Lipodystrophy, Hyperlordosis, Accelerated skeletal maturation, Spinal r... OMIM:613327
Seckel Syndrome 1
11 pairs of ribs, Pes planus, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion ... OMIM:210600
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Cleft pa... ORPHA:1724
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis ORPHA:664
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Gastroesophageal reflux, Accessory spleen, V... OMIM:194190
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... OMIM:276820
Marden-Walker Syndrome
Inguinal hernia, Arachnodactyly, Micrognathia, Short neck, Kyphosis, High, narrow palate, Pyloric... OMIM:248700
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fused cervical verteb... OMIM:619227
Shashi-Pena Syndrome
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... OMIM:617190
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly OMIM:617333
Familial Melanoma
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach ORPHA:618
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
3P25.3 Microdeletion Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Microg... ORPHA:435638
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Flat acetabular roof, Anteriorly placed anus, Fused cervical vertebrae, Short fem... OMIM:617159
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Short toe, Limitation of joint mo... OMIM:139210
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Craniosynostosis ORPHA:314575
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Tibial Hemimelia
Absent tibia OMIM:275220
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... OMIM:174900
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Lowry-Maclean Syndrome
Osteopenia, Inguinal hernia, Craniosynostosis, Micrognathia, Congenital diaphragmatic hernia, Abn... ORPHA:2409
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Tapered finger, Pyloric stenosis, Hip dysplasia, Talipes equinovarus, Clinodactyly of the 5th finger OMIM:617219
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Pe... ORPHA:381
Fg Syndrome Type 1
Pes planus, Finger syndactyly, Broad toe, Limited elbow extension and supination, Sacral dimple, ... ORPHA:93932
Kbg Syndrome
Syndactyly, Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Cu... OMIM:148050
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Tracheomalacia, Short neck, Congenital diaph... ORPHA:1001
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Thoracic kyphosis, Hyperm... ORPHA:508498
Osteopathia Striata With Cranial Sclerosis
Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Gastroesophageal ref... OMIM:300373
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Esophageal atresi... ORPHA:87
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice... OMIM:208500
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia, Atrophic scars, Arthrogryposis multiplex congenit... OMIM:226730
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Abnormal foot morph... OMIM:263750
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Pyloric s... ORPHA:3138
Opitz-Kaveggia Syndrome
Multiple joint contractures, Micrognathia, Short neck, Anteriorly placed anus, Prominent fingerti... OMIM:305450
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... OMIM:304120
Acromelic Frontonasal Dysplasia
Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p... ORPHA:1827
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Tracheoesophageal fistula, Rectovagin... ORPHA:1780
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Hemivertebrae, Cleft p... OMIM:304050
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyl... OMIM:236680
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arthritis, Gastroesophage... ORPHA:779
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Pes planus, Inguinal hernia, Pyloric stenosis, Flexion contracture, Osteoporosis, Hip... OMIM:614438
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Absence of the sacrum, Hepatomegaly, Congenital hip dislocation, Block vertebrae, As... OMIM:306955
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Knee flexion contracture,... OMIM:619461
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Micrognathia, Congenital diaphragmatic hernia, Pyloric stenosis, Cleft palate, ... ORPHA:261197
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Micrognathia, Bifid distal p... ORPHA:97360
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Esophageal atresia, Hemivertebrae, Butterfly vertebrae, Vertebral... OMIM:206900
Cranioectodermal Dysplasia 1
High, narrow palate, Hepatic fibrosis, High palate, Joint laxity, Hepatomegaly, Rhizomelia, Sagit... OMIM:218330
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis, High palate OMIM:617796
Arterial Tortuosity Syndrome
Inguinal hernia, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necr... ORPHA:3342
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal... ORPHA:379
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Microgn... ORPHA:83617
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Accessory spleen, Posterolateral diaphragmatic hernia, Sandal gap, Ingu... OMIM:613177
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In... OMIM:259770
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Stiff neck, Fused cervical vertebrae, Scoliosi... ORPHA:268882
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Limb pain, Neoplasm of t... ORPHA:512
Distal 22Q11.2 Microdeletion Syndrome
Pes planus, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Camptodactyly o... ORPHA:261330
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... OMIM:602535
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Orofaciodigital Syndrome Type 4
Joint dislocation, Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial... ORPHA:2753
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Inguinal hernia, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tape... OMIM:613458
Cornelia De Lange Syndrome 1
Micromelia, Micrognathia, Proximal placement of thumb, Short neck, High, narrow palate, Congenita... OMIM:122470
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Co... OMIM:157800
Esophageal Atresia
Omphalocele, Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Laryngotracheomalacia, ... ORPHA:1199
Charge Syndrome
Micrognathia, Hemivertebrae, Hand monodactyly, Aplasia/Hypoplasia of the thymus, Hypoplasia of th... OMIM:214800
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Omphalocele, Bifid distal phalanx of the thumb, Pyloric stenosis, Delayed skele... OMIM:618419
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Broad ha... ORPHA:2308
Chops Syndrome
Splenomegaly, High, narrow palate, Gastroesophageal reflux, Tracheomalacia, Cervical C2/C3 verteb... OMIM:616368
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Kinsship Syndrome
Osteopenia, Pes planus, Sacral dimple, Micrognathia, Coxa valga, Short neck, Hip dislocation, Fib... OMIM:619297
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi... ORPHA:3472
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Malabsorption, Abnormal foot morpho... ORPHA:2136
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Gast... OMIM:619472
Muir-Torre Syndrome
Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm ORPHA:587
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Gloss... ORPHA:444077
Williams Syndrome
Osteopenia, Micrognathia, Rectal prolapse, Abnormal form of the vertebral bodies, Vertebral segme... ORPHA:904
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... OMIM:216340
Junctional Epidermolysis Bullosa With Pyloric Atresia
Pterygium, Enamel hypoplasia, Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Elsahy-Waters Syndrome
Anal stenosis, Abnormality of the anus, Shortening of all phalanges of fingers, Anteriorly placed... OMIM:211380
Epidermolysis Bullosa Simplex With Pyloric Atresia
Scarring alopecia of scalp, Atrophic scars, Flexion contracture, Congenital pyloric atresia ORPHA:158684
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial synostosis, Hypoplasia of... ORPHA:3404
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas ... ORPHA:93111
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Hepatic calcificat... ORPHA:51608
Craniofacial Microsomia 1
Block vertebrae, Micrognathia, Partial duplication of thumb phalanx, Hemivertebrae, Cleft palate,... OMIM:164210
Microphthalmia, Syndromic 1
Syndactyly, Lumbar hyperlordosis, Aganglionic megacolon, Down-sloping shoulders, Kyphoscoliosis, ... 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 Pals2

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 Pals2.

No publications found that use IMPC mice or data for Pals2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Pals2em2(IMPC)Rbrc Exon Deletion Mice
Pals2em1(IMPC)Rbrc Exon Deletion Mice
Pals2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pals2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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