Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Pals2em1(IMPC)Rbrc HOM   Early adult 4.30×10-05
decreased body length Pals2em1(IMPC)Rbrc HOM Early adult 1.47×10-07
decreased bone mineral content Pals2em1(IMPC)Rbrc HOM Early adult 2.74×10-07
fusion of vertebral arches Pals2em1(IMPC)Rbrc HOM   Early adult 4.53×10-05
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
abnormal stomach morphology Pals2em1(IMPC)Rbrc HOM Early adult 0.00

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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.


XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

3 Images


XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


5 Images

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
Matching phenotypes Source
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg... OMIM:118651
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Hand polydactyly, L... ORPHA:93405
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Sclerotic scapulae, Absen... OMIM:601376
Acrocapitofemoral Dysplasia
Genu varum, Short middle phalanx of finger, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... OMIM:127300
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Osebold-Remondini Syndrome
Abnormality of the vertebral column, Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplas... OMIM:112910
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Abnorm... OMIM:201250
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... ORPHA:1802
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Lethal Faciocardiomelic Dysplasia
Radial club hand, Microglossia, Fibular hypoplasia, Hypoplasia of the radius, Sandal gap, Short 5... ORPHA:1972
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Cubi... ORPHA:79106
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Otopalatodigital Syndrome Type 1
Short hallux, Cleft palate, Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusi... ORPHA:90650
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Bro... OMIM:113000
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Delayed closure of the anterior fontanelle, Dislocated... OMIM:605274
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... ORPHA:3344
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Talipes equinovarus, Finger symphala... OMIM:610017
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Abnormal dental enamel mor... OMIM:601559
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Abnormal sacrum morphology, Fused cervical vertebrae, Anal atresi... ORPHA:1436
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Cleft palate, Absent tibia, Radial cl... ORPHA:93322
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Cleft palate, Talipes equinovarus, Absent phalangeal crease, Antecubital ptery... OMIM:618469
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Fibular aplasia, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Delayed skeletal maturation, ... OMIM:612447
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Reduced bone min... ORPHA:93315
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Cleft palate, Short ribs, Reduced bone mineral density, Syndactyly, Ab... ORPHA:1505
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Dislocated... ORPHA:166016
Endove Syndrome, Limb-Only Type
Triangular tibia, Umbilical hernia, Absent proximal finger flexion creases, 3-4 finger syndactyly... OMIM:619217
Atelosteogenesis Type Iii
Club-shaped distal femur, Distal tapering femur, Talipes equinovarus, Short tubular bones of the ... ORPHA:56305
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Hallux valgus, Ectopic ossification in muscle tissue, Ectopic ossification in... OMIM:135100
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Generalized bone demineralization, Tibial bowing, Fibular bowing, Rickets, Thin bony ... OMIM:600785
Orofaciodigital Syndrome Viii
Cleft palate, High palate, Polydactyly, Syndactyly, Short tibia OMIM:300484
Dyschondrosteosis And Nephritis
Madelung deformity, Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Popliteal pterygium, Abnormality of femur morphology, Patellar aplasia, Fibular hypo... ORPHA:3329
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Fused cervical vertebrae, Anal atresia, Thoracic hemivertebrae, P... OMIM:309620
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Cleft palate, Vertebral fusion, Hip contracture, Hemivertebrae, Craniosynostos... OMIM:178110
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Absent or minimally ossified vertebral bodies, Cleft palate, Abnormal vertebral segmentation and ... ORPHA:66637
Microcephaly-Micromelia Syndrome
Micrognathia, Cleft palate, Talipes equinovarus, Craniosynostosis, Absent radius, Forearm undergr... OMIM:251230
Kniest Dysplasia
Cleft palate, Aplasia/hypoplasia of the extremities, Abnormal bone structure, Short long bone, Co... ORPHA:485
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Blount Disease
Tibial bowing, Abnormality of the knee, Osteochondrosis, Abnormality of the proximal tibial epiph... ORPHA:2768
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Genu varum, Short middle phalanx of finger, Irregu... OMIM:156500
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Cleft palate, Ectopic anus, Abnormal sacrum morphology, Abno... ORPHA:2345
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Knee osteoa... ORPHA:93356
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Cleft palate, Vertebral segmentation defect, Vertebral fusion OMIM:221950
Laurin-Sandrow Syndrome
Absent tibia, Patellar aplasia, Triphalangeal thumb, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Multiple Epiphyseal Dysplasia With Robin Phenotype
Cleft palate, Talipes equinovarus, Short humerus, Short femur, Irregular epiphyses, Micrognathia,... OMIM:601560
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, High palate, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapp... OMIM:201170
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Missing ribs, Block vertebr... OMIM:613686
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower lim... ORPHA:3035
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, High palate, Cleft palate, Hamartoma of tongue, Postaxial polydacty... OMIM:258860
Weismann-Netter Syndrome
Fibular bowing, Horizontal sacrum, Lateral femoral bowing, Kyphosis, Anterior tibial bowing, Calv... OMIM:112350
Metatarsus adductus, Limb joint contracture, Talipes equinovarus, Aplasia/hypoplasia involving bo... ORPHA:356961
Occipital Horn Syndrome
Keloids, Absent tibia, Rickets, Hepatitis, Aplastic clavicle, Pes planus, Synostosis of joints, B... ORPHA:198
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... ORPHA:93284
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Toe syndactyly, Spinal canal stenosis, 2-3 toe syndactyly, Short middle phalan... OMIM:263540
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Cleft palate, Abnormal vertebral segmentation and fusion,... OMIM:244600
Spondyloepimetaphyseal Dysplasia, Missouri Type
Femoral bowing, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, Pear-shaped vert... OMIM:602111
Microcephalic Primordial Dwarfism, Montreal Type
Shagreen patch, Micrognathia, Kyphosis, Reduced bone mineral density, Lipoatrophy, Scoliosis, Con... ORPHA:2617
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... ORPHA:370010
Metaphyseal Acroscyphodysplasia
Genu varum, Short humerus, Short toe, Short phalanx of finger, Cone-shaped epiphyses of the phala... OMIM:250215
Aarskog-Scott Syndrome
Cleft palate, Talipes, Abnormal vertebral segmentation and fusion, Small hand, Inguinal hernia, G... ORPHA:915
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Unicameral bone... ORPHA:83468
Microphthalmia With Limb Anomalies
Cleft palate, Talipes equinovarus, Abnormal form of the vertebral bodies, Finger syndactyly, Syno... ORPHA:1106
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Talipes equinovarus, Sacral dimple, Short long bone, Vertebral segmentation defect OMIM:618845
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... OMIM:166740
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sanda... OMIM:607143
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Cleft palate, Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies, Abnormal de... ORPHA:2916
Femoral-Facial Syndrome
Micrognathia, Cleft palate, Talipes equinovarus, Abnormal sacrum morphology, Coxa vara, Hip dyspl... ORPHA:1988
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Missing ribs, Short neck, Scoliosis, Low ba... OMIM:122600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Macroglossia, Achilles tendon contracture, Kyphosis, Thigh hypertrophy, Hyperlo... OMIM:606612
Omodysplasia 1
Limited elbow flexion, Popliteal pterygium, Micrognathia, Rhizomelia, Limited knee flexion/extens... OMIM:258315
Shox-Related Short Stature
Micrognathia, High palate, Tibial bowing, Lower limb undergrowth, Cubitus valgus, Genu valgum, Sh... ORPHA:314795
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Epiphyseal dysplasia, Abnormal pelvis bone morphology, Short phalanx of finger, Abn... ORPHA:1427
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Clinodactyly, Short 5th finger, Hip dislocation, Short neck, Sco... OMIM:615583
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Absent tibia, Hamartoma of tongue, Talipes equinovarus, Short ribs, Femoral bowing,... OMIM:613091
Orofaciodigital Syndrome Ix
Toe syndactyly, High palate, Cleft palate, Hand polydactyly, Camptodactyly, Short tibia OMIM:258865
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Omphalocele, Micrognathia, Tibial bowing, Short lower limbs, Lower limb... OMIM:236640
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Atelosteogenesis, Type Iii
Cervical segmentation defect, Knee dislocation, Cleft palate, Micrognathia, Tibial bowing, Horizo... OMIM:108721
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregu... OMIM:608940
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, 2-3 toe syndactyly, Butterfly vertebrae, Vertebral fusion, Exaggerated m... ORPHA:313892
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, High palate, Cleft palate, Talipes equinovarus, Short phalanx of finger... OMIM:268305
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Atelosteogenesis, Type I
Cleft palate, Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Sho... OMIM:108720
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Ankle flexion contracture, Long phalanx of finger, High... OMIM:305620
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Capitate-hamate fusion, Talipes equinovarus, C2-C3 subluxation, Epiphyseal dysplasi... OMIM:272460
Multiple Pterygium Syndrome, X-Linked
Micrognathia, Cleft palate, Vertebral fusion, Short finger, Increased susceptibility to fractures... OMIM:312150
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Thin bony cortex, Enlargement of the wrists, Rickets, Bowing of th... OMIM:600081
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Micrognathia, Cleft palate, Hamartoma of tongue, Postaxial poly... OMIM:617925
Multiple Pterygium Syndrome, Lethal Type
Micrognathia, Cleft palate, Vertebral fusion, Short finger, Increased susceptibility to fractures... OMIM:253290
Kbg Syndrome
Cleft palate, Vertebral fusion, Cutaneous syndactyly, Thoracic kyphosis, Delayed skeletal maturat... ORPHA:2332
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Femoral bowing, High palate, Tibial bowing, Platyspondyly, Cervical kyphosis, Flexion contracture... OMIM:245160
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Tibial bowing, Fibular bowing, Bowing of the legs, Enamel hypomineralizati... OMIM:307800
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Syndactyly, Thoracic hemivertebrae, Fused thoracic vertebrae, Scoliosis ORPHA:1445
Otopalatodigital Syndrome Type 2
Omphalocele, Cleft palate, Increased bone mineral density, Camptodactyly of finger, Micrognathia,... ORPHA:90652
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Acromesomelic Dysplasia 3
Tarsal synostosis, Fibular aplasia, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... OMIM:223800
Asymmetric Short Stature Syndrome
Micrognathia, Hemihypotrophy of lower limb, Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... ORPHA:2978
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Short neck, Scoliosis OMIM:214300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Hepatic fibrosis, Hamartoma of tongue, Polysyndactyly of hallux, Microglossia, Disp... OMIM:263520
Frontometaphyseal Dysplasia
Keloids, Cleft palate, Short metatarsal, Pes valgus, Joint contracture of the hand, Progressive b... ORPHA:1826
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hernia of the abdominal wall, Omphalocele, Upper limb undergrowth, Epiphyseal stippling, Prominen... ORPHA:96334
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Median cle... OMIM:119800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Macroglossia, Achilles tendon contracture, Kyphosis, Thigh hypertrophy, Hyperlo... OMIM:607155
Gorlin Syndrome
Plantar pits, Vertebral fusion, Hemivertebrae, Vertebral wedging, Arachnodactyly, Scoliosis, Brac... ORPHA:377
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Aganglionic megacolon, Triphalangeal thumb, V... ORPHA:959
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Wormian bones, Multiple prenatal fractures, Kyphosis, Osteopenia, P... OMIM:610915
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Hepatos... OMIM:274000
Multiple Pterygium Syndrome, Escobar Variant
Cleft palate, Talipes equinovarus, Syndactyly, Umbilical hernia, Dysplastic patella, Micrognathia... OMIM:265000
Serrated Polyposis Syndrome
Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Pancreatic adenocarc... ORPHA:157798
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Beaking of vertebral bo... OMIM:231070
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Foot acroosteolysis, Metatarsal periosteal thickening, Gastric hypertrophy, Arthri... OMIM:161700
Acro-Renal-Mandibular Syndrome
Micrognathia, High palate, Butterfly vertebrae, Rudimentary fibula, Hemivertebrae, Hypoplastic sc... ORPHA:958
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Tibial bowing, Fibular bowing, Thin bony cortex, Enlargement of the wri... OMIM:300554
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, Carpal synos... OMIM:157800
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Micrognathia, High palate, Vertebral fusion, Sclerosis of skull base,... OMIM:130720
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Anemia, Gastric varix, Splenomegaly, Nodu... ORPHA:64743
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Enlargement of the wrists, Increased bone mineral density, Osteomalacia, Bone pain, H... ORPHA:289176
Robinow Syndrome, Autosomal Recessive 1
Duplication of the distal phalanx of hand, Absent uvula, Broad toe, Hypoplastic sacrum, Delayed s... OMIM:268310
Periventricular Nodular Heterotopia
Pyloric stenosis, Shoulder dislocation, Hernia, Joint hypermobility, Scoliosis, Patellar dislocat... ORPHA:98892
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Phocomelia, Aplastic clavicle, Abnormality of the radius, Abnormality of the humeru... ORPHA:2538
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Arthrogryposis multiplex congenita, Overlapping toe, Camptodactyly OMIM:614262
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Micrognathia, High palate, Cervical C2/C3 vertebral fusion, Acetabular dysplasia, Flexion contrac... OMIM:616549
Klippel-Feil Syndrome 1, Autosomal Dominant
Cleft palate, Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Abnorm... OMIM:118100
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Decreased calvarial ossification, Micrognathia, Tibial bowing, Wormia... OMIM:259420
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short dist... OMIM:184460
Kbg Syndrome
Vertebral fusion, Radial deviation of finger, Syndactyly, Vertebral arch anomaly, Thoracic kyphos... OMIM:148050
Osteogenesis Imperfecta, Type X
Pyloric stenosis, Micrognathia, Micromelia, Bowing of the long bones, Generalized joint laxity, P... OMIM:613848
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Enlargement of th... OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Fibular bowing, Thin bony cortex, Enlargement of the wrists, Rickets, Bowing of th... OMIM:241530
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Talipes, Microglossia, Fibular hypoplasia, Hypoplasia of the radius, Short 5th fing... OMIM:227270
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Splenomegaly, Neu... OMIM:612852
Orofaciodigital Syndrome Type 2
Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Finger syndactyly, Broad... ORPHA:2751
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Hemivertebrae, Missing ribs, Short ribs, Anal atresia, Supernumerary vertebrae,... OMIM:271520
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Omphalocele, Cleft palate, Short metatarsal, Short ribs, Broad hall... OMIM:304120
Basal Cell Nevus Syndrome
Plantar pits, Cleft palate, Irregular ossification of hand bones, Vertebral fusion, Vertebral wed... OMIM:109400
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Micrognathia, Radial deviation of finger, Thrombocytopenia, Clinodactyly OMIM:188025
Vitamin D-Dependent Rickets, Type 2A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Enlargement of th... OMIM:277440
Caudal Regression Sequence
Talipes equinovarus, Abnormal vertebral segmentation and fusion, Missing ribs, Anal atresia, Abno... ORPHA:3027
Koolen-De Vries Syndrome
Pyloric stenosis, High, narrow palate, Cleft palate, Vertebral fusion, Abnormal dental enamel mor... ORPHA:96169
Microphthalmia With Limb Anomalies
Toe syndactyly, High palate, Cleft palate, Hand oligodactyly, Talipes equinovarus, Camptodactyly ... OMIM:206920
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Micrognathia, Abnormal reticulocyte morphology, Fused cervical vertebrae, Kyphosis, Hyperlordosis... ORPHA:2522
Bronchogenic Cyst
Dysphagia, Abnormality of the peritoneum, Back pain, Abnormal lumbar spine morphology, Abnormal s... ORPHA:2357
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis, Short 5th finger, Congenital hip dislocation, Rocker bottom foot OMIM:133705
Ophthalmomandibulomelic Dysplasia
Radial bowing, Radioulnar dislocation, Fibular hypoplasia, Mesomelia, Lateral humeral condyle apl... OMIM:164900
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Campomelic Dysplasia
Micrognathia, Cleft palate, Tibial bowing, Tracheobronchomalacia, Talipes equinovarus, Small abno... ORPHA:140
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Limited hip movement, Th... OMIM:203500
Abnormal large intestine morphology, Abnormality of the small intestine, Fasciitis, Abnormal phal... ORPHA:801
Simpson-Golabi-Behmel Syndrome
Omphalocele, Cleft palate, Talipes equinovarus, Finger syndactyly, Splenomegaly, Camptodactyly of... ORPHA:373
Fibrochondrogenesis 1
Omphalocele, Broad ischia, Cleft palate, Joint contracture of the hand, Short ribs, Camptodactyly... OMIM:228520
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Talipes equinovarus, Cubitus valgus, Pes planus, Deviation of the 5th finger, Delayed skeletal ma... OMIM:143095
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Foot polydactyly, Hand polydactyly, Rudimentary fibula, Elbow flexion c... OMIM:200980
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Short lo... OMIM:300106
Microgastria-Limb Reduction Defects Association
Microgastria, Aganglionic megacolon, Hand oligodactyly, Asplenia, Phocomelia, Splenogonadal fusio... OMIM:156810
Dent Disease 1
Tibial bowing, Fibular bowing, Thin bony cortex, Enlargement of the wrists, Rickets, Bowing of th... OMIM:300009
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing, Wormian bones OMIM:138930
Eiken Syndrome
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... OMIM:600002
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal phal... ORPHA:90291
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Hepatomegaly, Dysphagia, Osteoporosis, Lipodystrophy, Osteopenia, Splenomegaly,... OMIM:613327
Orofaciodigital Syndrome X
Fibular aplasia, Cleft palate, Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand poly... OMIM:165590
Schneckenbecken Dysplasia
Cleft palate, Diaphyseal thickening, Hypoplastic scapulae, Abnormal form of the vertebral bodies,... ORPHA:3144
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Aganglionic megacolon, Triphalangeal thumb, Pes planus, Hypoplasia o... OMIM:607323
Cousin Syndrome
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... OMIM:260660
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Phocomelia, Schinzel Type
Fibular aplasia, High, narrow palate, Micrognathia, Cleft palate, Hand oligodactyly, Foot oligoda... ORPHA:2879
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Koolen-De Vries Syndrome
Pyloric stenosis, High palate, Cleft palate, Vertebral fusion, Positional foot deformity, Kyphosi... OMIM:610443
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... ORPHA:263665
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Missing ribs, Esophageal atresia, Vertebral... OMIM:206900
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Campomelic Dysplasia
Shortening of all phalanges of the toes, Cleft palate, Micrognathia, Tracheobronchomalacia, Talip... OMIM:114290
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Tibial bowing, Thin bony cortex, Subperiosteal bone resorption, Enlargement of the wr... ORPHA:289157
Ménétrier Disease
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Hypochromic mi... ORPHA:2494
Aicardi Syndrome
Cleft palate, Butterfly vertebrae, Missing ribs, Hepatoblastoma, Malabsorption, Small hand, Hip d... ORPHA:50
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, Micrognathia, High palate, Cleft palate, Small hand, Bifid uvula, Clinodactyly,... ORPHA:96184
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Neutropenia, Abnormal form of the vertebral bodies, Limited elbow extensio... ORPHA:175
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Kyphomelic Dysplasia
Micrognathia, Cleft palate, Tibial bowing, Radial bowing, Talipes equinovarus, Short humerus, Bow... OMIM:211350
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Abnormal stomach morphology ORPHA:281090
Fanconi Anemia, Complementation Group I
Neutropenia, Bone marrow hypocellularity, Hypoplasia of the radius, Fused cervical vertebrae, Sho... OMIM:609053
Duane Retraction Syndrome
Micrognathia, Cleft palate, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the t... ORPHA:233
Oncogenic Osteomalacia
Abnormal foot morphology, Tibial bowing, Abnormality of femur morphology, Abnormal vertebral morp... ORPHA:352540
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Abnormal form of the ve... ORPHA:1788
Seckel Syndrome 1
Micrognathia, High palate, Cleft palate, Talipes, Ivory epiphyses, Dislocated radial head, Pes pl... OMIM:210600
Faciodigitogenital Syndrome, Autosomal Recessive
Metatarsus adductus, High palate, Vertebral fusion, Hyperextensible hand joints, Narrow palate, D... OMIM:227330
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Splenomegaly ORPHA:664
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypopl... OMIM:276820
Lamb-Shaffer Syndrome
Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Apert Syndrome
Pyloric stenosis, Cutaneous finger syndactyly, Cervical C5/C6 vertebrae fusion, Cleft palate, Ect... OMIM:101200
Mosaic Trisomy 20
Limited pronation/supination of forearm, Cleft palate, Spinal canal stenosis, Vertebral fusion, M... ORPHA:1724
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Marden-Walker Syndrome
Pyloric stenosis, High, narrow palate, Micrognathia, High palate, Cleft palate, Talipes equinovar... OMIM:248700
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Biliary tract abnorma... ORPHA:234
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Myhre Syndrome
2-3 toe syndactyly, Cleft palate, Vertebral fusion, Cone-shaped epiphysis, Hypoplastic iliac wing... OMIM:139210
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, Craniosynostosis, High palate ORPHA:314575
3P25.3 Microdeletion Syndrome
Pyloric stenosis, High, narrow palate, Micrognathia, Cleft palate, Postaxial polydactyly, Tapered... ORPHA:435638
Wolf-Hirschhorn Syndrome
Cleft palate, Talipes equinovarus, Abnormal form of the vertebral bodies, Accessory spleen, Delay... OMIM:194190
Tibial Hemimelia
Absent tibia OMIM:275220
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Duodenal atresia, Esophageal atresia, Fused cervical vertebrae, Tracheoesoph... OMIM:619227
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Vertebral fusion, Hemivertebrae, Anal atresia, 11 pairs of ribs, Scoliosis, Short neck, Persisten... ORPHA:94095
Lowry-Maclean Syndrome
Pyloric stenosis, High, narrow palate, Midgut malrotation, Cleft palate, Micrognathia, Abnormalit... ORPHA:2409
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect,... ORPHA:3109
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Congenital pyloric atresia, Atrophic scars, Arthrogryposis multiplex congenita, Esophageal atresi... OMIM:226730
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Cleft palate, Talipes equinovarus, Joint contracture of the hand, Camptodactyly, Cra... OMIM:300373
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Talipes equinovarus, Tapered finger, Hip dysplasia, Clinodactyly of the 5th finger OMIM:617219
2Q37 Microdeletion Syndrome
Pyloric stenosis, Toe syndactyly, Congenital diaphragmatic hernia, Small hand, Finger syndactyly,... ORPHA:1001
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Pyloric stenosis, Omphalocele, Bifid distal phalanx of the thumb, Anal atresia, Hip dysplasia, Li... OMIM:618419
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... ORPHA:1876
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellulari... ORPHA:381
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Pes planus, Broad hallux, Thoracic scoliosis, Microretrognathia, Micrognathia... ORPHA:508498
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Early ossification of capital femoral epiphyses, Hepatic fibrosis, Hypoplast... OMIM:208500
Fg Syndrome Type 1
Pyloric stenosis, Micrognathia, High palate, Abnormal large intestine morphology, Craniosynostosi... ORPHA:93932
Frontometaphyseal Dysplasia 2
Pyloric stenosis, High palate, Cleft palate, Hip contracture, Talipes equinovarus, Short metatars... OMIM:617137
Postaxial Acrofacial Dysostosis
Pyloric stenosis, Midgut malrotation, Abnormal foot morphology, Cleft palate, Micrognathia, Conge... OMIM:263750
Apert Syndrome
Toe syndactyly, Cervical C5/C6 vertebrae fusion, Cleft palate, Ectopic anus, Aplasia/Hypoplasia o... ORPHA:87
Epidermolysis Bullosa, Junctional, Herlitz Type
Pyloric stenosis, Atrophic scars, Enamel hypoplasia OMIM:226700
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstruction, Congenital short... OMIM:300048
Ulnar-Mammary Syndrome
Pyloric stenosis, Hernia of the abdominal wall, Ectopic anus, Aplasia/Hypoplasia of the ulna, Ana... ORPHA:3138
Opitz-Kaveggia Syndrome
Pyloric stenosis, Cleft palate, Joint contracture of the hand, Syndactyly, Broad hallux, Camptoda... OMIM:305450
Hardikar Syndrome
Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:301068
Thakker-Donnai Syndrome
Hemivertebrae, Rectovaginal fistula, Congenital diaphragmatic hernia, Cervical C2/C3 vertebral fu... ORPHA:1780
Hydrolethalus Syndrome 1
Omphalocele, Upper limb undergrowth, Cleft palate, Micrognathia, Talipes equinovarus, Duplication... OMIM:236680
Myopathy, Centronuclear, X-Linked
Pyloric stenosis, High palate, Arachnodactyly, Flexion contracture, Slender toe OMIM:310400
Aicardi Syndrome
Cleft palate, Butterfly vertebrae, Hemivertebrae, Missing ribs, Hepatoblastoma, Proximal placemen... OMIM:304050
Gastrointestinal Stromal Tumor
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... ORPHA:44890
Reynolds Syndrome
Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Cirrhosis, Ga... ORPHA:779
Cranioectodermal Dysplasia 1
Triphalangeal hallux, Broad toe, Short ribs, Broad distal phalanges of all fingers, Short toe, Sh... OMIM:218330
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Pyloric stenosis, Ankle flexion contracture, Dysphagia, Knee flexion contracture, Scoliosis, Elbo... OMIM:619461
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Anemia, Clubbing, Intussuscept... OMIM:174900
Robinow Syndrome
Micrognathia, Hemivertebrae, Bifid distal phalanx of the thumb, Kyphoscoliosis, Mesomelic arm sho... ORPHA:97360
Acromelic Frontonasal Dysplasia
Midline central nervous system lipomas, Talipes equinovarus, Median cleft palate, Patellar hypopl... ORPHA:1827
Chronic Granulomatous Disease
Pyloric stenosis, Hepatomegaly, Mediastinal lymphadenopathy, Malabsorption, Splenomegaly, Tracheo... ORPHA:379
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Palmoplantar cutis laxa, Macroglossia, Gastrointestinal dysmotility, Large hand... ORPHA:363705
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radius OMIM:113470
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Micrognathia, Cleft palate, Abnormal vertebral morphology, Congenital diaphragm... ORPHA:261197
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Omphalocele, Cleft palate, Micrognathia, Tibial bowing,... OMIM:309350
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, 2-3 toe syndactyly, Meckel diverticulum, Shortening of all distal phalanges of ... ORPHA:777
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, B lymphocytopenia, Micrognathia, Cleft palate, Pancreatic hypoplasia, Hepatomeg... ORPHA:83617
Arterial Tortuosity Syndrome
Pyloric stenosis, Rocker bottom foot, Median cleft lip and palate, Avascular necrosis of the capi... ORPHA:3342
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Limb pain, Hemobilia, Abnormal gallbladder morphology, Abnormal stom... ORPHA:512
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Short metatarsal, Cubitus valgus, Absent frontal sinuses, Delayed skeletal maturat... OMIM:211910
Arnold-Chiari Malformation Type I
Stiff neck, Dysphagia, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Abnormality of ... ORPHA:268882
Jacobsen Syndrome
Pyloric stenosis, Broad hallux phalanx, Duodenal atresia, Abnormal form of the vertebral bodies, ... ORPHA:2308
Charge Syndrome
Omphalocele, Cleft palate, Absent tibia, Duodenal atresia, Hand polydactyly, Umbilical hernia, Mi... OMIM:214800
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... OMIM:601027
Orofaciodigital Syndrome Type 4
High, narrow palate, Perineal fistula, Cleft palate, Genu varum, Abnormal joint morphology, Micro... ORPHA:2753
Chromosome 13Q33-Q34 Deletion Syndrome
Pyloric stenosis, Micrognathia, High palate, Talipes equinovarus, Tapered finger, Anal atresia, S... OMIM:619148
Cornelia De Lange Syndrome 1
Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Phocomelia, Proximal placement of thumb, Hypo... OMIM:122470
Distal 22Q11.2 Microdeletion Syndrome
Pyloric stenosis, High, narrow palate, Toe syndactyly, Cleft palate, Ulnar deviation of finger, B... ORPHA:261330
Ulnar-Mammary Syndrome
Pyloric stenosis, Short 5th toe, Short clavicles, Hypoplastic scapulae, Short 4th toe, Aplasia of... OMIM:181450
Esophageal Atresia
Pyloric stenosis, Omphalocele, Dysphagia, Cleft palate, Duodenal atresia, Morphological abnormali... ORPHA:1199
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... OMIM:601095
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Micrognathia, Rectal prolapse, Inguinal hernia, Sandal gap, Tracheomalacia, Gas... OMIM:613177
Yunis-Varon Syndrome
Pyloric stenosis, Short middle phalanx of finger, Short ribs, Syndactyly, Short toe, Abnormal pel... ORPHA:3472
Kinsship Syndrome
Micrognathia, Polydactyly, Fibular hypoplasia, Dislocated radial head, Pes planus, Osteopenia, Hi... OMIM:619297
Craniofacial Microsomia
Micrognathia, Cleft palate, Hemivertebrae, Vertebral hypoplasia, Block vertebrae OMIM:164210
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... ORPHA:141127
Distal Monosomy 12Q
Pyloric stenosis, High, narrow palate, 2-3 toe syndactyly, Short middle phalanx of finger, Microg... ORPHA:96149
Viss Syndrome
Talipes equinovarus, Pes planus, Recurrent joint dislocation, Submucous cleft soft palate, Micror... OMIM:619472
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Epiphyseal stippling, Microglossia, Proximal ... OMIM:270400
Marden-Walker Syndrome
Pyloric stenosis, Metatarsus adductus, Micrognathia, Cleft palate, Talipes, Abnormal form of the ... ORPHA:2461
Degcags Syndrome
Pyloric stenosis, Talipes equinovarus, Hepatosplenomegaly, Syndactyly, Delayed skeletal maturatio... OMIM:619488
Hennekam Syndrome
Pyloric stenosis, Abnormal foot morphology, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphang... ORPHA:2136
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Aplasia/Hypoplasia of the radius, Microglossi... ORPHA:818
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, High palate, Abnormal vertebral morphology, Macroglossia, Cervical C2/C3 vertebral ... ORPHA:444077
Williams Syndrome
Hallux valgus, Rectal prolapse, Abnormal gastric mucosa morphology, Abnormal form of the vertebra... ORPHA:904
Dyrk1A-Related Intellectual Disability Syndrome
Pyloric stenosis, Hallux valgus, Toe syndactyly, Structural foot deformity, Duodenal atresia, Pol... ORPHA:464306
1P36 Deletion Syndrome
Pyloric stenosis, Abnormal intestine morphology, Foot polydactyly, 11 pairs of ribs, Camptodactyl... ORPHA:1606
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Hernia, Pathologic fracture, Hip dislocation, Small bowel diverticula, Joint su... ORPHA:90349
Yunis-Varon Syndrome
Pyloric stenosis, Decreased calvarial ossification, Short metatarsal, Absent hallux, Aplastic cla... OMIM:216340
Cornelia De Lange Syndrome
Pyloric stenosis, Abnormality of the ulna, Cleft palate, Volvulus, Proximal placement of thumb, S... ORPHA:199
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Intestinal atresia, Congenital pyloric atresia, Pterygium ORPHA:79403
Ulbright-Hodes Syndrome
Ovoid thoracolumbar vertebrae, Fibular aplasia, Micrognathia, High palate, Abnormal forearm bone ... ORPHA:3404
Epidermolysis Bullosa Simplex With Pyloric Atresia
Atrophic scars, Congenital pyloric atresia, Scarring alopecia of scalp, Flexion contracture ORPHA:158684
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancrea... ORPHA:93111
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Stippled calcification of the shoulder, Abnormal hip ... ORPHA:51608
Branchiooculofacial Syndrome
Pyloric stenosis, Micrognathia, Cleft palate, Ectopic thymus tissue, Proximal placement of thumb,... OMIM:113620
Microphthalmia, Syndromic 1
Pyloric stenosis, High, narrow palate, High palate, Rectal prolapse, Aganglionic megacolon, Short... OMIM:309800


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.

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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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