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Gene: Loxl3 MGI:1337004

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
lysyl oxidase-like 3
Synonyms:
Lor2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Loxl3 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.

The table below shows human diseases associated to Loxl3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myopia 28, Autosomal Recessive
OMIM:619781

The table below shows human diseases predicted to be associated to Loxl3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Micrognathia, Short neck, Cleft palate, Abnormal vertebral morphology ORPHA:2015
Atelosteogenesis, Type Ii
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... OMIM:256050
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Micrognathia, Cleft palate, Abnormal form of the vertebral bodies, ... ORPHA:3104
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:261800
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Abnormality of the vertebral column, Stillbirth, Cleft palate ORPHA:294975
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:172880
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Malar flattening, Platyspondyly, Pierre-Robin sequence, Cleft palate OMIM:184840
Nemaline Myopathy 9
Cleft palate, High palate, Scoliosis, Micrognathia OMIM:615731
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Oligodontia, Widely spaced teeth... OMIM:601216
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Trismus, Vertebral wedging, Platyspondyly, Beaking of vertebral bodies OMIM:616583
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Multiple small vertebral fractures, Premature loss of teeth, Platyspon... OMIM:156510
Fetal Akinesia Deformation Sequence 4
Micrognathia, Short neck, Kyphosis, High palate, Prenatal death, Neonatal death, Retrognathia OMIM:618393
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:311895
Gordon Syndrome
Pectus excavatum, Cleft palate, High palate, Scoliosis ORPHA:376
Brachyolmia, Maroteaux Type
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Catel-Manzke Syndrome
Micrognathia, Pectus excavatum, Cleft palate, Glossoptosis, Scoliosis, Malar flattening, Oral syn... ORPHA:1388
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Cleft palate, Vertebral segmentation defect, Thin vermilion border, Pulmo... ORPHA:2631
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Autosomal Recessive Stickler Syndrome
Micrognathia, Cleft palate, Irregular vertebral endplates, Platyspondyly, Malar flattening ORPHA:250984
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... OMIM:609223
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Platyspondyly, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Arthrogryposis, Distal, Type 1C
Pursed lips, Short neck, Cleft lip, Cleft palate, Thin vermilion border, High palate, Scoliosis, ... OMIM:619110
X-Linked Intellectual Disability, Abidi Type
Pectus excavatum, Cleft palate, Non-midline cleft lip, Scoliosis ORPHA:85273
Aase-Smith Syndrome
Trismus, Cleft palate, Scoliosis ORPHA:916
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Platyspondyly, Long philtrum, Abnormal vertebral epiphys... ORPHA:90653
Hall-Riggs Syndrome
U-Shaped upper lip vermilion, Kyphosis, Thick lower lip vermilion, Microdontia of primary teeth, ... OMIM:234250
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Vertebral clefting, Cleft palate, To... ORPHA:1248
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis ORPHA:3180
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Microretrognathia, Kyphoscoliosis, Hyperlordosis, Micrognathia, Carious te... OMIM:618363
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Irregular vertebral endplates, Platyspondyly, Schmorl's node OMIM:604864
Pseudodiastrophic Dysplasia
Smooth philtrum, Lumbar hyperlordosis, Short neck, Micrognathia, Hypoplasia of the odontoid proce... OMIM:264180
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Kyphosis, Cleft palate, Short philtrum, Scoliosis ORPHA:85317
Pseudodiastrophic Dysplasia
Malar flattening, Platyspondyly, Scoliosis ORPHA:85174
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Platyspondyly, Scoliosis, Retrognathia, Dentinogenes... ORPHA:166272
Mesomelic Limb Shortening And Bowing
Retrognathia, Cleft palate, Micrognathia OMIM:249710
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Cleft palate, Kyphoscoliosis OMIM:612913
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology ORPHA:163665
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Cleft palate, High palate, Scoliosis, Malar flattening, Open mouth OMIM:620021
Stickler Syndrome, Type I
Micrognathia, Pectus excavatum, Kyphosis, Submucous cleft hard palate, Pierre-Robin sequence, Cle... OMIM:108300
Microphthalmia, Syndromic 12
Intestinal malrotation, Micrognathia, Cleft palate, Pulmonary hypoplasia, Neonatal death, Retrogn... OMIM:615524
Osteogenesis Imperfecta, Type Ix
Pectus excavatum, Kyphosis, Platyspondyly, Scoliosis, Dentinogenesis imperfecta OMIM:259440
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Ovoid vertebral bodies, Short neck, Micrognathia, Wide anterior fontanel, Cleft palate, Downturne... ORPHA:163649
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid... OMIM:184100
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Platyspondyly, Malar flattening, Hypoplasia of the odontoid pro... ORPHA:85172
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Micrognathia, Carious teeth, Glossoptosis, Platyspondyly, Cervical... ORPHA:93346
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly OMIM:608361
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... OMIM:271630
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Micrognathia, Cleft palate, Tooth agenesis, Vertebral segmentation defect, Abnormal lower lip mor... ORPHA:1166
Morquio Syndrome C
Platyspondyly OMIM:252300
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Pectus excavatum, Cleft palate, Glossoptosis, Long philtrum, Malar flattening ORPHA:166100
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Pierre-Robin sequence, Cleft palate, Glossoptosis, Lumbar scoliosis, Scoliosis, Retrognathia, Hyp... OMIM:620269
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Vertebral wedging OMIM:617719
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve... OMIM:214300
Odontochondrodysplasia 1
Delayed eruption of teeth, Recurrent respiratory infections, Biconvex vertebral bodies, Death in ... OMIM:184260
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Second Metatarsal-Metacarpal Syndrome
Platyspondyly OMIM:269630
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Lumbar hyperlordosis, Micrognathia, Pierre-Robin sequence, Recurrent pneumonia, Cleft palate, Cor... OMIM:215150
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Kyphoscoliosis, Dental malocclusion, Irregular vertebral endplates, Pl... OMIM:612350
Rhizomelic Syndrome, Urbach Type
Micrognathia, Short neck, Kyphosis, Wide anterior fontanel, Abnormality of the tongue, Abnormal f... ORPHA:3098
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Scoliosis OMIM:618728
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis OMIM:612847
Autosomal Dominant Spondylocostal Dysostosis
Recurrent respiratory infections, Hyperlordosis, Short neck, Abnormal sacrum morphology, Cleft pa... ORPHA:1797
Split-Foot Deformity With Mandibulofacial Dysostosis
Malar flattening, Cleft palate, Micrognathia OMIM:183700
Isotretinoin Syndrome
Sacral dimple, Spina bifida occulta, Cleft palate, Micrognathia ORPHA:2305
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the ... OMIM:183900
Osteogenesis Imperfecta, Type V
Platyspondyly, Biconcave vertebral bodies, Dentinogenesis imperfecta, Vertebral wedging OMIM:610967
Atelosteogenesis, Type Iii
Cervical segmentation defect, Cervical kyphosis, Short neck, Micrognathia, Hypoplasia of the maxi... OMIM:108721
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Hypoplasia of the odontoid process, Cleft palate, Platyspondyly, Scoliosis, C1-C2 ... OMIM:184250
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Abnormality of the vertebral endplates, Platyspondyly, Ovoid vertebral bodies, Cleft palate ORPHA:1856
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Platyspondyly OMIM:609324
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Cleft p... ORPHA:2635
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Spondyloepiphyseal Dysplasia Congenita
Back pain, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, ... ORPHA:94068
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odont... OMIM:253000
Greenberg Dysplasia
Abnormally ossified vertebrae, Platyspondyly, Abnormal form of the vertebral bodies, Micrognathia ORPHA:1426
Dysspondyloenchondromatosis
Kyphoscoliosis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospondyly ORPHA:85198
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... ORPHA:2521
Oculoauriculofrontonasal Syndrome
Micrognathia, Cleft lip, Cleft palate, Scoliosis, Narrow mouth, Broad philtrum ORPHA:398156
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... ORPHA:2107
Diaphanospondylodysostosis
Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ... ORPHA:66637
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Short neck, Downturned corners of mouth, Platyspondyly, Short philtrum ORPHA:93267
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Micrognathia, Cleft palate, Abnormality of the vertebral column, Narrow mouth, A... OMIM:239800
Schneckenbecken Dysplasia
Ovoid vertebral bodies, Short neck, Cleft palate, Platyspondyly, Stillbirth, Malar flattening, Na... OMIM:269250
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Micrognathia, Pectus e... OMIM:114300
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Hypoplas... ORPHA:1782
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Cleft palate, Abnormality of the vertebral column, Ectopi... ORPHA:2345
Verloove Vanhorick-Brubakk Syndrome
Micrognathia, Non-midline cleft lip, Cleft palate, Abnormal form of the vertebral bodies, Aplasia... ORPHA:3429
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly OMIM:617974
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Atelectasis, High palate, Neonatal death, Retrognathia OMIM:300219
Anauxetic Dysplasia 1
Mandibular prognathia, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Macroglossia, Platy... OMIM:607095
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Recurrent pneumonia, Scoliosis OMIM:602271
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Kyphosis... ORPHA:2916
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Schwartz-Jampel Syndrome, Type 1
Pursed lips, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Micrognathia, D... OMIM:255800
Atelosteogenesis Type I
Micrognathia, Malrotation of colon, Cleft palate, Coronal cleft vertebrae, Platyspondyly, Pulmona... ORPHA:1190
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Micrognathia, Cleft palate, Coro... ORPHA:1427
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Kyphoscoliosis, Micrognathia, Platyspondyly, Abnormality of the vertebral colu... ORPHA:93316
Seckel Syndrome 5
Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Scoli... OMIM:613823
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Keratoconus Posticus Circumscriptus
Cleft upper lip, Abnormal vertebral segmentation and fusion, Cleft palate, Short neck OMIM:244600
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia ORPHA:99772
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ... ORPHA:99642
Cole-Carpenter Syndrome 2
Microretrognathia, Pectus excavatum, Kyphosis, Platyspondyly, High palate, Dentinogenesis imperfecta OMIM:616294
Anauxetic Dysplasia 3
Recurrent respiratory infections, Thoracolumbar kyphoscoliosis, Pectus excavatum, Wide anterior f... OMIM:618853
Chondroectodermal Dysplasia With Night Blindness
Platyspondyly, Abnormal dental morphology, Micrognathia ORPHA:319195
Lethal Congenital Contracture Syndrome 1
Neonatal death, Widening of cervical spinal canal, Pulmonary hypoplasia, Micrognathia OMIM:253310
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis OMIM:618469
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Scoliosis, Micrognathia ORPHA:166016
Platyspondylic Dysplasia, Torrance Type
Malar flattening, Platyspondyly, Pulmonary hypoplasia, Cleft palate ORPHA:85166
Geroderma Osteodysplasticum
Mandibular prognathia, Kyphoscoliosis, Hypoplasia of the maxilla, Vertebral compression fracture,... OMIM:231070
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic sinusitis, Bronchiectasis OMIM:253240
Spondyloepiphyseal Dysplasia Tarda
Back pain, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscolios... ORPHA:93284
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... ORPHA:2314
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth, Platyspondyly, Scoliosis OMIM:126550
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth OMIM:246560
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Cleft palate, Still... OMIM:200610
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Dental malocclusion, Platyspondyly, Scoliosis, Severe platyspondyly OMIM:608940
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Micrognathia, Cleft palate, Narrow mouth, Malar flattening ORPHA:93946
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly ORPHA:168555
Bronchogenic Cyst
Back pain, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, At... ORPHA:2357
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-s... OMIM:313400
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... OMIM:601349
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:602196
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Pectus excavatum, Submucous cleft hard palate, Unilateral cleft lip, Six lumbar ver... OMIM:619122
Mucopolysaccharidosis Type 4
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Carious t... ORPHA:582
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Micrognathia, Wide mouth, Platyspondyly, Short philtrum ORPHA:163966
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Ovoid vertebral bodies OMIM:609052
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly ORPHA:93283
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Sacral dimple, Dental crowding, Cleft soft palate, Kyphoscoliosis, Micr... OMIM:616331
Monosomy 18P
Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Pectus excavatum, Cleft palate, Downturn... ORPHA:1598
Kniest Dysplasia
Short neck, Pectus excavatum, Cleft palate, Coronal cleft vertebrae, Platyspondyly, Lumbar kyphos... OMIM:156550
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly OMIM:271600
Joubert Syndrome 18
Lobulated tongue, Retrognathia, Cleft palate, Kyphoscoliosis OMIM:614815
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micrognathia, Short neck, Cleft palate, Platyspondyly, Unilateral cleft lip, Pulmonary hypoplasia... OMIM:616897
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Geroderma Osteodysplastica
Mandibular prognathia, Vertebral compression fracture, Abnormal form of the vertebral bodies, Pla... ORPHA:2078
Combined Oxidative Phosphorylation Deficiency 47
Long philtrum, Platyspondyly, Short neck OMIM:618958
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Cleft upper lip, Short neck, Pectus excavatum, Cleft palate... OMIM:609654
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Cleft upper lip, Micrognathia, Cleft palate, Pulmo... OMIM:312150
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Thoracic platyspondyly, Death in childhood, Beaking of vertebral ... OMIM:618961
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the o... OMIM:253010
Dysosteosclerosis
Delayed eruption of teeth, Natal tooth, Micrognathia, Increased intervertebral space, Absent fron... OMIM:224300
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Birk-Barel Syndrome
Microretrognathia, Sacral dimple, Tented upper lip vermilion, High palate, Short philtrum, Submuc... OMIM:612292
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Platyspondyly, Mala... OMIM:612813
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia OMIM:227270
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Hyperlordosis, Micrognathia, Short neck, Cleft palate, Furrowed tongue, Scoliosis... OMIM:615065
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormal intervertebral disk morphology ORPHA:1345
17Q12 Microduplication Syndrome
Abnormal vertebral morphology, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Hypophosphatasia, Infantile
Recurrent respiratory infections, Death in infancy, Abnormality of the dentition, Vertebral cleft... OMIM:241500
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial insta... OMIM:607326
Cantu Syndrome
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Thick lower lip vermilion, Gi... OMIM:239850
Lethal Kniest-Like Dysplasia
Short neck, Wide anterior fontanel, Cleft palate, Hypoplastic vertebral bodies, Coronal cleft ver... ORPHA:2347
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Short neck, Pectus excavatum, Cleft palate, High palate, Scoliosis, Retrognathia ORPHA:52055
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Platyspondyly, Thin vermilion border, Scoliosis, Vertebral comp... OMIM:602557
Fetal Alcohol Syndrome
Thin upper lip vermilion, Micrognathia, Non-midline cleft lip, Cleft palate, Vertebral segmentati... ORPHA:1915
15Q14 Microdeletion Syndrome
Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Long philtrum, S... ORPHA:261190
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Mucopolysaccharidosis, Type X
Hyperlordosis, Diastema, Open bite, Platyspondyly, Posterior scalloping of vertebral bodies, Wide... OMIM:619698
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Gingival overgrowth, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, N... OMIM:230600
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Chronic sinusitis, Bronchiectasis OMIM:615294
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Short neck, Platyspondyly, Thin vermilion border, Thorac... ORPHA:85194
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Marshall Syndrome
Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierr... OMIM:154780
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Micrognathia, Hyperlordosis, High, narrow palate, Submucous cleft hard... ORPHA:2780
Galloway-Mowat Syndrome 7
Kyphoscoliosis, Micrognathia, Pectus excavatum, Cleft lip, Cleft palate, High palate, Smooth phil... OMIM:618348
Fibrochondrogenesis 1
Short neck, Wide anterior fontanel, Cleft palate, Platyspondyly, Long philtrum, Stillbirth, Narro... OMIM:228520
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Pectus excava... OMIM:252100
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Trisomy 20P
Short neck, Micrognathia, Kyphosis, Abnormality of the dentition, Abnormal form of the vertebral ... ORPHA:261318
Anophthalmia Plus Syndrome
Cleft palate, Vertebral segmentation defect, Non-midline cleft lip, Bilateral cleft lip and palate ORPHA:1104
Fibrochondrogenesis 2
Malar flattening, Platyspondyly, Micrognathia OMIM:614524
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... ORPHA:2588
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... OMIM:609616
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... ORPHA:750
Desbuquois Dysplasia 1
Microretrognathia, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Narrow mouth, M... OMIM:251450
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Micrognathia, Carious teeth, R... ORPHA:536467
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Thoracic kyphosis,... OMIM:300232
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Loeys-Dietz Syndrome 4
Eosinophilic infiltration of the esophagus, High, narrow palate, Emphysema, Pneumothorax, High pa... OMIM:614816
Multiple Epiphyseal Dysplasia, Beighton Type
Low back pain, Thoracic scoliosis, Thoracic platyspondyly, Abnormal lumbar spine morphology, Bico... ORPHA:166011
Desbuquois Dysplasia 2
Lumbar hyperlordosis, Dental crowding, Short neck, Pectus excavatum, Cleft palate, Platyspondyly,... OMIM:615777
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly ORPHA:2619
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Cleft palate, Pulmonary hypoplasia OMIM:253290
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Micrognathia, Cleft palate, Pulmonary hypoplasia, Scoliosis ORPHA:994
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Osteogenesis Imperfecta, Type X
Thoracic scoliosis, Micrognathia, Pyloric stenosis, Recurrent pneumonia, Platyspondyly, Scoliosis... OMIM:613848
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Sinusitis, Ab... ORPHA:1452
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Chronic bronchitis, Short neck, Pectus excavatum, H... OMIM:253220
Thanatophoric Dysplasia, Type Ii
Neonatal death, Platyspondyly OMIM:187601
Kniest Dysplasia
Short neck, Hypoplasia of the odontoid process, Pierre-Robin sequence, Vertebral wedging, Cervica... ORPHA:485
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Anal at... OMIM:615709
Treacher Collins Syndrome 3
Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia OMIM:248390
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... ORPHA:2311
Tetraamelia Syndrome 2
Microretrognathia, Bilateral cleft lip, Micrognathia, Hypoplastic pulmonary veins, Cleft palate, ... OMIM:618021
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Tongue nodules, Downtur... OMIM:620107
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Platyspondyly, Delayed eruption of permanent teeth, Periodontitis, Scoliosis, Premature loss of t... OMIM:619269
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Death in infancy, Kyphoscoliosis, Pectus excavatum, Platyspondyly, Cervical instability, Thoracol... OMIM:617425
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Retrognathia, Tracheoesophagea... OMIM:619227
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... ORPHA:1159
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Smith-Mccort Dysplasia 2
Mandibular prognathia, Barrel-shaped chest, Hyperlordosis, Short neck, Hypoplasia of the odontoid... OMIM:615222
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Barrel-shaped chest, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vertebral endpl... OMIM:226980
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Gm1 Gangliosidosis
Mandibular prognathia, Recurrent respiratory infections, Hyperlordosis, Kyphosis, Gingival overgr... ORPHA:354
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Pectus excavatum, Cleft palate, Cervical spine instability, Platyspondyly, Long u... OMIM:615349
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis OMIM:615220
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Thanatophoric Dysplasia, Type I
Short neck, Platyspondyly, Pulmonary hypoplasia, Neonatal death, Severe platyspondyly OMIM:187600
Genitopalatocardiac Syndrome
Micrognathia, Kyphosis, Non-midline cleft lip, Cleft palate, Downturned corners of mouth, Scoliosis ORPHA:2075
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Pectus excavatum, Anterior scalloping of vertebral bodies, Cuboid-shaped vertebral bo... OMIM:611717
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly OMIM:619598
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Platyspondyly, Thin vermilion border, Scoliosis, Long philtrum, Dentinogenesis im... OMIM:614856
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Pectus excavatum, Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly OMIM:601438
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres... ORPHA:93352
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Pulmonary hypoplasia ORPHA:2655
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Wafer-thin platyspondyly, Stillbi... OMIM:151210
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Intestinal malrotation, Micrognathia, Vertebral wedging, Platyspondyly OMIM:617866
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Oral ulcer OMIM:620321
Atelosteogenesis, Type I
Short neck, Thoracic platyspondyly, Micrognathia, Cleft palate, Fused cervical vertebrae, Coronal... OMIM:108720
Orofaciodigital Syndrome V
Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Aganglionic megacol... OMIM:174300
Holzgreve Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Cleft palate, Aplasia/Hypoplasia... ORPHA:2167
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Respiratory tract infection, Posterior w... ORPHA:168549
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly ORPHA:157965
Trisomy 8Q
Micrognathia, Short neck, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral fre... ORPHA:1752
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis OMIM:156500
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Platyspondyly, Pectus excavatum, Scoliosis OMIM:619131
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Wide anterior fontanel, Poste... OMIM:607812
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short neck, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral interpedicu... OMIM:618395
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Kyphosis, Platyspondyly ORPHA:93274
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Tented upper lip vermilion, Thoracolumbar scoliosis, Short neck, Platyspondyly, Thick vermilion b... OMIM:616723
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Tooth agenesis, Vertebral compression fracture, Platyspondyly OMIM:616229
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Short neck, Deep philtrum, Death in childhood, Dysplastic sacrum, Severe platys... OMIM:613320
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Lumbar hyperlordosis, Kyphoscoliosis, Abnormality of the dentition, Platys... OMIM:271510
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Thoracic kyphosis OMIM:619638
Native American Myopathy
Micrognathia, Cleft palate, Abnormal curvature of the vertebral column, Downturned corners of mou... ORPHA:168572
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Cleft soft palate, Kyphoscoliosis, Hiatus hernia, Eosinophilic infilt... OMIM:615582
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Postaxial Acrofacial Dysostosis
Cleft upper lip, Conical tooth, Micrognathia, Pyloric stenosis, Midgut malrotation, Pectus excava... OMIM:263750
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Sclerotic vertebral endplates, Kyphoscoliosis, Decreased cervical spine mobility OMIM:208230
Duplication Of The Pituitary Gland
Thoracic scoliosis, Abnormal odontoid process morphology, Short neck, Supernumerary tooth, Abnorm... ORPHA:314621
Ollier Disease
Platyspondyly ORPHA:296
Schwartz-Jampel Syndrome
Short neck, Micrognathia, High palate, Pursed lips, Abnormally ossified vertebrae, Death in infan... ORPHA:800
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Platyspondyly OMIM:601356
Mosaic Trisomy 20
Vertebral fusion, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosis, Cleft palate, Fused c... ORPHA:1724
Raine Syndrome
Mandibular prognathia, Natal tooth, Death in infancy, Micrognathia, Short neck, Protruding tongue... OMIM:259775
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia OMIM:614526
Autosomal Dominant Popliteal Pterygium Syndrome
Thin upper lip vermilion, Lip pit, Micrognathia, Non-midline cleft lip, Fibrous syngnathia, Cleft... ORPHA:1300
Stickler Syndrome
Recurrent respiratory infections, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ... ORPHA:828
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Kyphosis, Wide anterior fontanel, Platyspondyly, Scoliosis, Vertebral compre... OMIM:610915
Infantile Liver Failure Syndrome 3
Hypoplastic vertebral bodies, Beaking of vertebral bodies, Platyspondyly, Death in childhood OMIM:618641
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis OMIM:184252
3Mc Syndrome 2
Prominence of the premaxilla, Cleft upper lip, Cleft palate, Downturned corners of mouth, Abnorma... OMIM:265050
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology ORPHA:174
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Protruding tongue, Hyperlordosis, Atelectasis, Macrog... ORPHA:258
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplasia of the o... OMIM:223800
Saul-Wilson Syndrome
Micrognathia, Pectus excavatum, Wide anterior fontanel, Hypoplasia of the odontoid process, Irreg... OMIM:618150
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Anal atresia, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Kyphos... ORPHA:85199
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Short neck, Atelectas... OMIM:269860
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Abnormal primary molar morphology, Plat... ORPHA:1830
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration ORPHA:70589
Kyphomelic Dysplasia
Cleft upper lip, Platyspondyly, Cleft palate, Micrognathia OMIM:211350
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Wide mouth, Platyspondyly, Th... ORPHA:1517
Blomstrand Lethal Chondrodysplasia
Natal tooth, Protruding tongue, Micrognathia, Platyspondyly, Pulmonary hypoplasia, Long philtrum,... ORPHA:50945
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Craniofacial osteosclerosis, Plat... OMIM:618476
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Micrognathia, Carious teeth, Cleft lip, Pierre-Robin sequence, ... OMIM:117650
Greenberg Dysplasia
Barrel-shaped chest, Micrognathia, Hypoplasia of the maxilla, Punctate vertebral calcifications, ... OMIM:215140
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, D... ORPHA:534
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Micrognathia, Short neck, Long philtrum, Retrognathia ORPHA:2756
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Branchioskeletogenital Syndrome
Mandibular prognathia, Abnormality of the vertebral spinous processes, Thoracolumbar kyphoscolios... ORPHA:1299
Spondyloperipheral Dysplasia
Barrel-shaped chest, Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates,... OMIM:271700
Osteogenesis Imperfecta, Type Xvii
Vertebral compression fracture, Dentinogenesis imperfecta, Platyspondyly, Kyphoscoliosis OMIM:616507
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Tented upper lip vermilion, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic plat... ORPHA:457395
Spondyloenchondrodysplasia
Delayed eruption of teeth, Pneumonia, Kyphosis, Dental malocclusion, Platyspondyly ORPHA:1855
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Wide anterior fontanel, Kyphosis, Aplasia/Hypoplasia of the... ORPHA:1860
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival overgrowth, Long philtrum... OMIM:618529
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Chronic sinusitis, Bronchiectasis ORPHA:922
Gm1 Gangliosidosis Type 1
Gingival overgrowth, Hypoplastic vertebral bodies, Macroglossia, Platyspondyly, Beaking of verteb... ORPHA:79255
Chand Syndrome
Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenes... ORPHA:1401
Spondyloenchondrodysplasia With Immune Dysregulation
Barrel-shaped chest, Recurrent respiratory infections, Lumbar hyperlordosis, Pneumonia, Kyphoscol... OMIM:607944
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Abnormality of the dentition, Downturned corners of mouth, Platyspondyly, Scoliosis, Malar flatte... OMIM:612394
Holoprosencephaly 13, X-Linked
Median cleft lip, Micrognathia, Vertebral clefting, Submucous cleft hard palate, Cleft palate, So... OMIM:301043
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Platyspondyly, Neonatal death OMIM:616482
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha... ORPHA:3348
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Micrognathia, Short neck, Narrow mouth, Cleft palate, Platyspondyly, Scoliosis... OMIM:245600
Osteogenesis Imperfecta, Type Iv
Kyphosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Micrognathia ORPHA:99742
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Short neck, Hypoplasia of the maxilla, Pectus e... OMIM:166250
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Intestinal malrotation, Pulmonary situs ambiguus, Peribroncho... ORPHA:244
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Recurrent respiratory infections, Anterior c... OMIM:309350
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Micrognathia, Pyloric stenosis, Rectal prolapse, Atelectasis, Recurrent pneumon... OMIM:613177
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... ORPHA:79126
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly ORPHA:93351
Cree Mental Retardation Syndrome
Pectus excavatum, Cleft soft palate, Micrognathia OMIM:606851
Achondroplasia
Death in infancy, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Pulmonary hypoplasia, Spinal ... OMIM:100800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Platyspondyly, Pear-shaped vertebrae, Irregular sclerotic endplates OMIM:602111
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspo... OMIM:619636
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Congenital kyphoscoliosis, Kyphoscoliosis, Micrognath... ORPHA:536471
Hypoglossia-Hypodactyly Syndrome
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, ... ORPHA:989
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Micrognathia, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Mi... OMIM:612289
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis, Micro... OMIM:242900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Platyspondyly, Pulmo... OMIM:263520
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Cerebrocostomandibular Syndrome
Death in infancy, Micrognathia, Kyphosis, Cleft palate, Glossoptosis, Short hard palate ORPHA:1393
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Micrognathia, Cleft palate, Irregular vertebr... OMIM:271640
Cleft Soft Palate
Cleft soft palate OMIM:119570
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Dyggve-Melchior-Clausen Disease
Short neck, Hypoplasia of the odontoid process, Abnormality of the vertebral endplates, Atlantoax... ORPHA:239
Bruck Syndrome 2
Platyspondyly OMIM:609220
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Czech Dysplasia
Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis, Intervertebral space ... OMIM:609162
Myhre Syndrome
Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Short neck, Hypoplasia of the ... OMIM:139210
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Micrognathia OMIM:243440
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Micrognathia, Hypoplasia of the odontoid process, Wide anterior fontanel, Atlantoaxia... OMIM:271665
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly OMIM:300863
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout... OMIM:619950
Popliteal Pterygium Syndrome
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Spina bifida occulta, Bifid uvula OMIM:119500
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Waardenburg Syndrome Type 3
Atelectasis, Tented upper lip vermilion ORPHA:896
Aspartylglucosaminuria
Recurrent respiratory infections, Kyphosis, Hypoplastic frontal sinuses, Thick lower lip vermilio... OMIM:208400
Marfan Syndrome
Pulmonary artery dilatation, Dental crowding, Spontaneous pneumothorax, Micrognathia, Open bite, ... ORPHA:558
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Opsismodysplasia
Recurrent respiratory infections, Short neck, Hypoplasia of the odontoid process, Hypoplastic ver... OMIM:258480
Sillence Syndrome
Back pain, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Intervertebral disc degeneration ORPHA:3168
Constricting Bands, Congenital
Cleft palate, Abnormal lung lobation, Scoliosis, Cleft upper lip OMIM:217100
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema ORPHA:70587
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... ORPHA:1071
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Cleft soft palate, Micrognathia, Short neck, Submucous cleft so... ORPHA:2282
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath... OMIM:608670
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Submucous cleft soft palate, Un... ORPHA:2751
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Pneumonia, Short neck, Pectus excavatum, Macroglossia, Abnormality of the ... ORPHA:309282
Meier-Gorlin Syndrome 1
Death in infancy, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Cleft palate, High pala... OMIM:224690
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Lumbar hyperlordosis, Kyphoscoliosis, Recurrent ... ORPHA:93357
Osteogenesis Imperfecta, Type Ii
Platyspondyly OMIM:166210
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... OMIM:610978
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... OMIM:300990
Occipital Horn Syndrome
Hiatus hernia, Pectus excavatum, Kyphosis, Platyspondyly, High palate, Long philtrum OMIM:304150
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Narrow mouth, Emphysema OMIM:613804
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodi... OMIM:259770
Treacher Collins Syndrome 2
Microretrognathia, Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone, Malar flattening... OMIM:613717
Meconium Aspiration Syndrome
Atelectasis, Pneumothorax, Aspiration pneumonia ORPHA:70588
Ciliary Dyskinesia, Primary, 1
Pneumonia, Absent frontal sinuses, Atelectasis, Bronchiectasis, Chronic sinusitis, Recurrent bron... OMIM:244400
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Lowry-Wood Syndrome
Platyspondyly ORPHA:1824
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Micrognathia, Short neck, Wide anterior fontanel, Pectus excavatum, Cleft palate,... OMIM:304120
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Abnormal dental enamel morphology, Intestinal malrotation, Micrognathia, C... ORPHA:567
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Digeorge Syndrome
Pilonidal sinus, Micrognathia, High, narrow palate, Atelectasis, Recurrent pneumonia, Cleft palat... OMIM:188400
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis ORPHA:2902
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Kyphoscoliosis, Kyphosis, High, narrow palate, Wide mouth, Short philtrum, Widel... OMIM:300967
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hyperlordosis, Respiratory tract infection, Atelectasis, Macroglossia, Scoliosis, Difficulty in t... ORPHA:365
Marfan Syndrome
Pulmonary artery dilatation, Dental crowding, Kyphoscoliosis, Micrognathia, Pectus excavatum, Pne... OMIM:154700
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morphology... OMIM:620233
Spondyloocular Syndrome
Vertebral compression fracture, Duodenal ulcer, Platyspondyly, Abnormality of the dentition OMIM:605822
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... OMIM:154500
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Biconcave flattened vertebrae OMIM:166200
Occipital Horn Syndrome
Hiatus hernia, Pectus excavatum, Kyphosis, High, narrow palate, Platyspondyly, Scoliosis, Esophag... ORPHA:198
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Ovoid vertebral bodies, Scoliosis ORPHA:85167
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Dental crowding, Kyphoscoliosis, Recurrent pneumonia, Platyspondyly, Progressive congenital scoli... OMIM:225400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly, Sinusitis, Pneumonia, Recurrent pneumonia OMIM:102700
Bent Bone Dysplasia Syndrome 2
Coronal cleft vertebrae, Platyspondyly, Butterfly vertebrae, Short neck OMIM:620076
Wrinkly Skin Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Kyphoscoliosis, Carious teeth, Pec... ORPHA:2834
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atlantoaxial instability, Cleft soft palate, Kyphoscoliosis OMIM:614557
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short neck, Thick lower lip vermilion, Irregular vertebral endplates, Platyspondyly, Posterior sc... OMIM:610442
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Cleft soft palate, Pectus excavatum, Kyphosis, Supernumerary tooth, Pyloric stenos... ORPHA:268261
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Micrognathia, Pectus excavatum, Emphysema, High palate, Pulmonary a... OMIM:614437
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Emphysema, Bifid ... OMIM:619472
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Malar flatte... ORPHA:69085
Craniotubular Dysplasia, Ikegawa Type
Increased intervertebral space, Thick lower lip vermilion, Platyspondyly, Long philtrum, Thick up... OMIM:619727
Branchiooculofacial Syndrome
Hyperlordosis, Micrognathia, Kyphosis, Short neck, Cleft of chin, Cleft upper lip, Malrotation of... OMIM:113620
Hardikar Syndrome
Thoracolumbar scoliosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Pulmonary art... OMIM:301068
Farber Disease
Atelectasis, Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT ORPHA:333
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Aganglionic megacolon, Abnormal dental enamel morphology, Kypho... ORPHA:2273
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Micrognathia, Short neck, Cleft vertebral arch, Platyspondyly, Stillbirth, Shor... OMIM:210710
Zygomycosis
Sinusitis, Gastritis, Atelectasis, Pneumothorax, Enterocolitis, Acute infectious pneumonia, Colit... ORPHA:73263
Diamond-Blackfan Anemia
Cleft soft palate, Micrognathia, Short neck, Cleft lip, High palate, Adenocarcinoma of the colon ORPHA:124
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Pectus excavatum, Atelectasis, Pulmonary fibrosis, Death in chi... OMIM:618278
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Kyphosis, An... OMIM:300106
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, Malar flattening OMIM:101400
Lowe Oculocerebrorenal Syndrome
Kyphosis, Platyspondyly, Enamel hypoplasia, Scoliosis OMIM:309000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Delayed eruption of teeth, Sacral dimple, Thin upper lip vermilion, Dental... OMIM:619503
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylothorax, Emphysema, Pulmonary ly... ORPHA:538
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Short neck, Recurrent pneumonia, Irregular vertebral endplates, Platyspondyly, Thin vermilion bor... ORPHA:99646
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia, Rectal abscess OMIM:306400
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly ORPHA:93317
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Relapsing Polychondritis
Anteriorly placed anus, Atelectasis, Recurrent aphthous stomatitis ORPHA:728
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnorma... ORPHA:261537
Mowat-Wilson Syndrome
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnorma... ORPHA:2152
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Short neck OMIM:250220
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum OMIM:619321
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnorma... ORPHA:261552
Pmm2-Cdg
Mandibular prognathia, Thin upper lip vermilion, Kyphoscoliosis, Wide mouth, Platyspondyly, High ... ORPHA:79318
Myopia 28, Autosomal Recessive
OMIM:619781

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 Loxl3

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 Loxl3.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Initiation of fibronectin fibrillogenesis is an enzyme-dependent process. Cell reports (May 2023) Loxl3tm1a(EUCOMM)Wtsi 37148241
Loxl2 and Loxl3 Paralogues Play Redundant Roles during Mouse Development. International journal of molecular sciences (May 2022) Loxl3tm1a(EUCOMM)Wtsi PMC9144032
Loxl3 Promotes Melanoma Progression and Dissemination Influencing Cell Plasticity and Survival. Cancers (February 2022) Loxl3tm1a(EUCOMM)Wtsi PMC8909883
Fibroblast fusion to the muscle fiber regulates myotendinous junction formation. Nature communications (June 2021) Loxl3tm1a(EUCOMM)Wtsi PMC8219707

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
Loxl3tm1c(EUCOMM)Wtsi Wild type floxed exon (post-Flp) Mice
Loxl3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Loxl3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Loxl3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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