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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Abnormal vertebral morphology, Micrognathia, Thin upper lip vermilion, Short neck, Cleft palate ORPHA:2015
Atelosteogenesis, Type Ii
Platyspondyly, Cervical kyphosis, Lumbar hyperlordosis, Micrognathia, Malar flattening, Increased... OMIM:256050
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia, Glossoptosis, ... ORPHA:3104
Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Abnormality of the vertebral column, Cleft palate, Stillbirth ORPHA:294975
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Malar flattening, Cleft palate, Pierre-Robin sequence OMIM:184840
Nemaline Myopathy 9
High palate, Micrognathia, Scoliosis, Cleft palate OMIM:615731
Pyle Disease
Platyspondyly, Mandibular prognathia, Carious teeth, Delayed eruption of teeth, Absent paranasal ... OMIM:265900
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Herniation ... OMIM:601216
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate ORPHA:718
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Vertebral wedging, Kyphoscoliosis, Beaking of vertebral bodies, Trismus OMIM:616583
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Fetal Akinesia Deformation Sequence 4
Retrognathia, Micrognathia, Prenatal death, Neonatal death, Short neck, High palate, Kyphosis OMIM:618393
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Thin vermilion bord... OMIM:156510
Gordon Syndrome
Pectus excavatum, High palate, Scoliosis, Cleft palate ORPHA:376
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
Brachyolmia, Maroteaux Type
Platyspondyly, Pectus excavatum, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Retrognathia, Abnormal lung lobation, Vertebral segmentation defect, Thin vermilion border, Cleft... ORPHA:2631
Catel-Manzke Syndrome
Oral synechia, Micrognathia, Malar flattening, Pectus excavatum, Glossoptosis, Scoliosis, Cleft p... ORPHA:1388
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate OMIM:119540
Autosomal Recessive Stickler Syndrome
Platyspondyly, Micrognathia, Malar flattening, Cleft palate, Irregular vertebral endplates ORPHA:250984
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Lumbar hyperlordosis, Intervertebral space narrowing, Irregular vertebral endplate... OMIM:609223
X-Linked Intellectual Disability, Abidi Type
Pectus excavatum, Scoliosis, Non-midline cleft of the upper lip, Cleft palate ORPHA:85273
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Aspiration pneumonia, Temporomandibular joint ankylosis, Micrognathia, Cleft palate ORPHA:141152
Aase-Smith Syndrome
Trismus, Scoliosis, Cleft palate ORPHA:916
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Retrognathia, Pursed lips, Narrow mouth, Short neck, Thin vermilion borde... OMIM:619110
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Mandibular prognathia, Tooth agenesis, Open bite, Patchy distortion of... ORPHA:1248
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Long philtrum, Abnormal vertebral epiphysis morphology,... ORPHA:90653
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Squared-off platyspondyly, Thoracic scoliosis, Intervertebral space narrowing, Bac... OMIM:271530
Hall-Riggs Syndrome
Platyspondyly, Kyphosis, Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypop... OMIM:234250
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, 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, Carious teeth, Microretrognathia, Tooth agenesis, Micrognathia, Kyphoscoli... OMIM:618363
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Pseudodiastrophic Dysplasia
Platyspondyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deformities, Lumb... OMIM:264180
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Schmorl's node, Irregular vertebral endplates OMIM:604864
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Short philtrum, Scoliosis, Mandibular prognathia, Kyphosis, Cleft palate ORPHA:85317
Mesomelic Limb Shortening And Bowing
Micrognathia, Retrognathia, Cleft palate OMIM:249710
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Death in infan... ORPHA:166272
Pseudodiastrophic Dysplasia
Platyspondyly, Scoliosis, Malar flattening ORPHA:85174
Brachyolmia Type 1, Toledo Type
Lumbar hyperlordosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Kyphoscoli... OMIM:271630
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology ORPHA:163665
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Cleft palate, Kyphoscoliosis OMIM:612913
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Open mouth, Malar flattening, High palate, Scoliosis, Cleft palate OMIM:620021
Stickler Syndrome, Type I
Platyspondyly, Bifid uvula, Micrognathia, Spondylolisthesis, Submucous cleft hard palate, Morbus ... OMIM:108300
Microphthalmia, Syndromic 12
Retrognathia, Intestinal malrotation, Micrognathia, Neonatal death, Cleft palate, Pulmonary hypop... OMIM:615524
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly OMIM:617383
Orofacial Cleft 13
Retrognathia, Micrognathia, Cleft soft palate, Malar flattening, Oligodontia OMIM:613857
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Platyspondyly, Carious teeth, Micrognathia, Cervical instability, ... ORPHA:93346
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Pectus excavatum, Scoliosis, Kyphosis OMIM:259440
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Anisospondyly, Downturned corners of mouth, Long philtrum, Micrognathia, Ovoid ver... ORPHA:163649
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Hypoplasia of the odontoid process, Malar flattening, Irregularity of vertebral bo... ORPHA:85172
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Malar flattening, Barrel... OMIM:184100
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly OMIM:608361
Auriculocondylar Syndrome 4
Micrognathia, Glossoptosis, Narrow mouth, Cleft palate OMIM:620457
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Micrognathia, Abnormal lower lip morphology, Abnormality of the pulmonary artery,... ORPHA:1166
Morquio Syndrome C
Platyspondyly OMIM:252300
Odontochondrodysplasia 1
Platyspondyly, Dentinogenesis imperfecta, Biconvex vertebral bodies, Delayed eruption of teeth, L... OMIM:184260
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Recurrent pneumonia, Lumbar hyperlordosis, Micrognathia, Malar flattening, Beaking... OMIM:215150
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Vertebral wedging OMIM:617719
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Retrognathia, Lumbar scoliosis, Glossoptosis, Scoliosis, Cleft pa... OMIM:620269
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Malar flattening, Pectus excavatum, Glossoptosis, Cleft palate ORPHA:166100
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Cleft palate, Fused cerv... OMIM:214300
Second Metatarsal-Metacarpal Syndrome
Platyspondyly OMIM:269630
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Hyperlordosis, Spina bifida occulta, Recurrent respira... ORPHA:1797
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Cervical kyphosis, Micrognathia, Malar flattening, Short neck, Horizon... OMIM:108721
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Bifid uvula, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar ... OMIM:183900
Isotretinoin Syndrome
Sacral dimple, Spina bifida occulta, Micrognathia, Cleft palate ORPHA:2305
Split-Foot Deformity With Mandibulofacial Dysostosis
Micrognathia, Malar flattening, Cleft palate OMIM:183700
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Irregular vertebral endplates, Lumbar scoliosis, Kyphoscoliosis OMIM:612847
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Kyphoscoliosis, Hypod... OMIM:612350
Mucopolysaccharidosis, Type Iva
Platyspondyly, Recurrent upper respiratory tract infections, Carious teeth, Recurrent pneumonia, ... OMIM:253000
Osteogenesis Imperfecta, Type V
Platyspondyly, Dentinogenesis imperfecta, Vertebral wedging, Biconcave vertebral bodies OMIM:610967
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Irregularity of vertebral bodies OMIM:609324
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, C1-C2 subluxation, Scoliosis, C... OMIM:184250
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Abnormal vertebral morphology, Abnormality of the vertebral column, Cleft upper li... OMIM:239800
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Scoliosis OMIM:618728
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the ... ORPHA:2635
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Platyspondyly, Abnormality of the vertebral endplates, Cleft palate, Ovoid vertebral bodies ORPHA:1856
Greenberg Dysplasia
Platyspondyly, Micrognathia, Abnormal form of the vertebral bodies, Abnormally ossified vertebrae ORPHA:1426
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Lumbar hyperlordosis, Abnormally ossified vertebrae, Micrognathia, Barrel-shaped c... ORPHA:94068
Rhizomelic Syndrome, Urbach Type
Wide anterior fontanel, Abnormal form of the vertebral bodies, Micrognathia, Short neck, High pal... ORPHA:3098
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Bifid uvula, Platyspondyly, Lumbar hyperlordosis, Abnormally ossif... ORPHA:1427
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Atelectasis, Death in infancy, Neonatal death, High palate OMIM:300219
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Clef... ORPHA:2521
Schneckenbecken Dysplasia
Platyspondyly, Malar flattening, Ovoid vertebral bodies, Narrow vertebral interpedicular distance... OMIM:269250
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Kyphoscoliosis, Vertebral segmentation defect, Scoliosis ORPHA:85198
Hall-Riggs Syndrome
Platyspondyly, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel mor... ORPHA:2107
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Cleft palate, Abnormal vertebral segme... ORPHA:66637
Arthrogryposis, Distal, Type 3
Bifid uvula, Lumbar hyperlordosis, Micrognathia, Submucous cleft hard palate, Kyphoscoliosis, Sho... OMIM:114300
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Recurrent pneumonia, Scoliosis OMIM:602271
Cleft Velum
Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency, Aspiration pneumonia ORPHA:99772
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Downturned corners of mouth, Micrognathia, Short neck, Short philtrum ORPHA:93267
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Verloove Vanhorick-Brubakk Syndrome
Abnormal form of the vertebral bodies, Micrognathia, Aplasia/Hypoplasia of the lungs, Non-midline... ORPHA:3429
Oculoauriculofrontonasal Syndrome
Cleft lip, Micrognathia, Narrow mouth, Broad philtrum, Scoliosis, Cleft palate ORPHA:398156
Dysosteosclerosis
Platyspondyly, Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morph... ORPHA:1782
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Ectopic anus, Short neck, A... ORPHA:2345
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly OMIM:617974
Atelosteogenesis Type I
Platyspondyly, Absent or minimally ossified vertebral bodies, Micrognathia, Coronal cleft vertebr... ORPHA:1190
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, ... ORPHA:2916
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Abnormality of the vertebral column, Cleft soft palate, Micrognathia, Kyphoscolios... ORPHA:93316
Anauxetic Dysplasia 1
Platyspondyly, Atlantoaxial dislocation, Lumbar hyperlordosis, Barrel-shaped chest, Microdontia, ... OMIM:607095
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Abnormality of the dentition, Delayed eruption of teeth, Atelectasis, Gingivitis, Recurrent respi... ORPHA:2314
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Schwartz-Jampel Syndrome, Type 1
Platyspondyly, Cervical kyphosis, Pursed lips, Lumbar hyperlordosis, Micrognathia, Narrow mouth, ... OMIM:255800
Cole-Carpenter Syndrome 2
Platyspondyly, Dentinogenesis imperfecta, Microretrognathia, Pectus excavatum, High palate, Kyphosis OMIM:616294
Anauxetic Dysplasia 3
Platyspondyly, Retrognathia, Oligodontia, Beaking of vertebral bodies, Pectus excavatum, Recurren... OMIM:618853
Keratoconus Posticus Circumscriptus
Short neck, Cleft palate, Cleft upper lip, Abnormal vertebral segmentation and fusion OMIM:244600
Lethal Congenital Contracture Syndrome 1
Micrognathia, Neonatal death, Widening of cervical spinal canal, Pulmonary hypoplasia OMIM:253310
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,... OMIM:613823
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Scoliosis, Cleft hard palate ORPHA:166016
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... ORPHA:99642
Acrofacial Dysostosis, Catania Type
Carious teeth, Micrognathia, Malar flattening, Spina bifida occulta, Cleft palate OMIM:101805
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Micrognathia, Submucous cleft hard palate, Unilateral cleft palate, Six lum... OMIM:619122
Chondroectodermal Dysplasia With Night Blindness
Platyspondyly, Abnormal dental morphology, Micrognathia ORPHA:319195
Geroderma Osteodysplasticum
Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Malar flat... OMIM:231070
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Fused thoracic vertebrae, Scoliosis, Cleft palate, Fused cervical vertebrae OMIM:618469
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Malar flattening, Cleft palate, Pulmonary hypoplasia ORPHA:85166
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Sacral dimple,... OMIM:616331
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Cleft palate OMIM:246560
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Narrow mouth, Malar flattening, Death in infancy, Cleft palate ORPHA:93946
Achondrogenesis, Type Ii
Microretrognathia, Long philtrum, Absent vertebral body mineralization, Barrel-shaped chest, Stil... OMIM:200610
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Carious teeth, Scoliosis OMIM:126550
Mucopolysaccharidosis Type 4
Platyspondyly, Abnormality of the dentition, Carious teeth, Spinal canal stenosis, Abnormal denta... ORPHA:582
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:602196
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Orofacial cleft, Widely-spaced maxillary central incisors... OMIM:601349
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Kyphosis OMIM:230650
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly ORPHA:168555
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Ovoid vertebral bodies OMIM:609052
Kniest Dysplasia
Platyspondyly, Malar flattening, Lumbar kyphoscoliosis, Short neck, Pectus excavatum, Coronal cle... OMIM:156550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Unilateral cleft lip, Micrognathia, Pleural effusion, Short neck, Cleft palate, Pu... OMIM:616897
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Micrognathia, Death in infancy, Short philtrum, Wide mouth ORPHA:163966
Monosomy 18P
Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Kyphoscoliosis, Hypo... ORPHA:1598
Joubert Syndrome 18
Kyphoscoliosis, Retrognathia, Cleft palate, Lobulated tongue OMIM:614815
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Recurrent upper respiratory tract infections, Carious teeth, Hypoplasia of the odo... OMIM:253010
Bruck Syndrome 1
Platyspondyly, Abnormality of the dentition, Vertebral wedging, Scoliosis, Kyphosis OMIM:259450
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly ORPHA:93283
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Chronic sinusitis, Bronchiectasis, Atelectasis OMIM:615294
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, Abnormal odontoid process morphology, Short neck, Pectus excavatum, High palate,... OMIM:609654
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Malar flattening, Barrel-shaped chest, Short neck, Mandibula... OMIM:612813
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Micrognathia, Vertebral fusion, Abnormal cervical curvature, Cleft palate, Pulmo... OMIM:312150
Geroderma Osteodysplastica
Platyspondyly, Mandibular prognathia, Abnormal form of the vertebral bodies, Malar flattening, Bi... ORPHA:2078
Anophthalmia Plus Syndrome
Tessier cleft, Vertebral segmentation defect, Bilateral cleft palate, Non-midline cleft of the up... ORPHA:1104
Brachyolmia Type 3
Platyspondyly, Barrel-shaped chest, Short neck, Scoliosis, Kyphosis OMIM:113500
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly OMIM:271600
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Short neck, Long philtrum OMIM:618958
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Thoracic platyspondyly, Death in childhood, Increased intervertebral space, Beaking of vertebral ... OMIM:618961
Faciocardiomelic Dysplasia, Lethal
Microglossia, Retrognathia, Micrognathia, Narrow mouth, Neonatal death OMIM:227270
Arthrogryposis, Distal, Type 5D
Furrowed tongue, Micrognathia, Open mouth, Narrow mouth, Short neck, Hyperlordosis, Scoliosis, To... OMIM:615065
Birk-Barel Syndrome
Bifid uvula, Microretrognathia, Tented upper lip vermilion, Submucous cleft soft palate, High pal... OMIM:612292
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Retrognathia, Short neck, Pectus excavatum, High palate, Scoliosis, Cleft palate ORPHA:52055
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Dentinogenesis imperfecta, Atlantoaxial dislocation, Carious teeth, Congenital kyp... ORPHA:536467
17Q12 Microduplication Syndrome
Abnormal vertebral morphology, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Dysosteosclerosis
Platyspondyly, Natal tooth, Delayed eruption of teeth, Absent paranasal sinuses, Micrognathia, In... OMIM:224300
Hypophosphatasia, Infantile
Platyspondyly, Abnormality of the dentition, Unossified vertebral bodies, Death in infancy, Verte... OMIM:241500
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormal intervertebral disk morphology ORPHA:1345
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic facial bones, Hypoplasia of the odontoid process, Atlantoaxial instabi... OMIM:607326
Cantu Syndrome
Platyspondyly, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Gingival over... OMIM:239850
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic vertebral bodies, Short neck, Coronal cleft vertebrae, Wide anterior f... ORPHA:2347
Fetal Alcohol Syndrome
Micrognathia, Microdontia, Thin upper lip vermilion, Smooth philtrum, Vertebral segmentation defe... ORPHA:1915
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Narrow vertebral interpedicula... OMIM:602557
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Abnormality of the dentition, Long philtrum, Smooth philtrum, Short philtrum, Scoliosis, Kyphosis... ORPHA:261190
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Mucopolysaccharidosis, Type X
Platyspondyly, Diastema, Long philtrum, Open bite, Widely spaced teeth, Beaking of vertebral bodi... OMIM:619698
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Gingival overgrowth, Narrow mouth, Protruding tongue, Hypo... OMIM:230600
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ... OMIM:156530
Spondylo-Ocular Syndrome
Platyspondyly, Long philtrum, Short neck, Thin vermilion border, Abnormal intervertebral disk mor... ORPHA:85194
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Broad uvula, Retrognathia, Emphysema, Spondylolisthesis, Malar ... OMIM:614816
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Delayed eruption of teeth, Retrognathia, Facial hyperostosis, M... ORPHA:2780
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Retrognathia, Cleft ... OMIM:620107
Fibrochondrogenesis 2
Platyspondyly, Micrognathia, Malar flattening OMIM:614524
ERI1-related disease
Platyspondyly, Velopharyngeal insufficiency, Increased vertebral height, Micrognathia, Pectus exc... OMIM:608739
Marshall Syndrome
Platyspondyly, Bifid uvula, Macrodontia of permanent maxillary central incisor, Long philtrum, Th... OMIM:154780
Fibrochondrogenesis 1
Platyspondyly, Long philtrum, Narrow mouth, Malar flattening, Short neck, Stillbirth, Cleft palat... OMIM:228520
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Micrognathia, Accessory oral frenulum, Agenesis of central incisor, Ma... OMIM:252100
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly ORPHA:2619
Spondyloepiphyseal Dysplasia Tarda
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... ORPHA:93284
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Trisomy 20P
Platyspondyly, Abnormality of the dentition, Downturned corners of mouth, Abnormal form of the ve... ORPHA:261318
Myhre Syndrome
Platyspondyly, Bifid uvula, Gingival cleft, Craniofacial hyperostosis, Hypoplasia of the maxilla,... ORPHA:2588
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Lumbar hyperlordosis, Beaking of vertebral bodies, Scoliosis, Irregular vertebral ... OMIM:609616
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Hypoplasia of the odontoid process, Malar flattening, Kyphoscoliosis, Short neck, ... OMIM:300232
Multiple Pterygium Syndrome, Lethal Type
Micrognathia, Vertebral fusion, Abnormal cervical curvature, Cleft palate, Pulmonary hypoplasia OMIM:253290
Desbuquois Dysplasia 1
Platyspondyly, Microretrognathia, Long philtrum, Narrow mouth, Malar flattening, Smooth philtrum,... OMIM:251450
Fetal Akinesia Deformation Sequence
Micrognathia, Intestinal hypoplasia, Scoliosis, Cleft palate, Pulmonary hypoplasia ORPHA:994
Osteogenesis Imperfecta, Type X
Platyspondyly, Dentinogenesis imperfecta, Recurrent pneumonia, Micrognathia, Malar flattening, De... OMIM:613848
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Abnormality of the dentition, Platyspondyly, Biconvex vertebral bo... ORPHA:93315
Pseudoachondroplasia
Platyspondyly, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, Lumbar ... ORPHA:750
Garg-Mishra Progeroid Syndrome
Platyspondyly, Micrognathia, Dental crowding, Ovoid vertebral bodies OMIM:620601
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic platyspondyly, Biconcave vertebral bodies, Thoracic scoliosis, Intervertebral space narr... ORPHA:166011
Desbuquois Dysplasia 2
Platyspondyly, Bifid uvula, Dental crowding, Long philtrum, Lumbar hyperlordosis, Hypodontia, Sho... OMIM:615777
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Mandibular prognathia, Carious teeth, Delayed ... ORPHA:1452
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Oral ulcer, Bronchiectasis, Atelectasis OMIM:620321
Kniest Dysplasia
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Cervical spine instability,... ORPHA:485
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Recurrent upper respiratory tract infections, Hypoplasia o... OMIM:253220
Tetraamelia Syndrome 2
Microretrognathia, Ankyloglossia, Bilateral lung agenesis, Micrognathia, Bilateral cleft lip, Hyp... OMIM:618021
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Platyspondyly, Dentinogenesis imperfecta, Periodontitis, Retrognathia, Scoliosis, Delayed eruptio... OMIM:619269
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Vertebral wedging, Hyperconvex vertebral body endplates, Beaking of vertebral bodi... ORPHA:1159
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Long philtrum, Vertebral segmentation defect, Spina bifida... ORPHA:2311
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Butterfly vertebrae, Submucous cleft hard palate, Tracheoesophageal fistula, Esopha... OMIM:619227
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Platyspondyly, Velopharyngeal insufficiency, Hypoplasia of the zygomatic bone, Increased vertebra... OMIM:620663
Treacher Collins Syndrome 3
Micrognathia, Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate OMIM:248390
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Neonatal death, Persistent cloaca, Vertebra... OMIM:615709
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Neonatal death OMIM:187601
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate ORPHA:2736
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
Alpha-1-Antitrypsin Deficiency
Gastric varix, Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Thanatophoric Dysplasia, Type I
Platyspondyly, Neonatal death, Short neck, Severe platyspondyly, Pulmonary hypoplasia OMIM:187600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Platyspondyly, Thoracolumbar kyphosis, Death in infancy, Kyphoscoliosis, Pectus excavatum, Anal a... OMIM:617425
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Platyspondyly, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Malar flatten... OMIM:611717
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Smith-Mccort Dysplasia 2
Platyspondyly, Hypoplasia of the odontoid process, Barrel-shaped chest, Short neck, Hyperlordosis... OMIM:615222
Genitopalatocardiac Syndrome
Downturned corners of mouth, Non-midline cleft of the upper lip, Micrognathia, Scoliosis, Kyphosi... ORPHA:2075
Gm1 Gangliosidosis
Platyspondyly, Mandibular prognathia, Abnormal form of the vertebral bodies, Long philtrum, Aspir... ORPHA:354
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Platyspondyly, Hypoplasia of the odontoid process, Barrel-shaped chest, Hyperlordosis, High palat... OMIM:226980
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis OMIM:615220
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Kyphoscoliosis, Long upper lip, Pectus excavatum, Cleft palate, Cervical spine ins... OMIM:615349
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracolumbar kyphosis, Disc-like vertebral bodies, Short neck, Severe platyspondyly, Stillbirth,... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Squared-off platyspon... ORPHA:93352
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly OMIM:619598
Thanatophoric Dysplasia
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis, Pulmonary hypoplasia ORPHA:2655
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Dentinogenesis imperfecta, Long philtrum, Kyphoscoliosis, Thin vermilion border, S... OMIM:614856
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Pectus excavatum, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Atelosteogenesis, Type I
Thoracic platyspondyly, Micrognathia, Malar flattening, Neonatal death, Short neck, Fused cervica... OMIM:108720
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly OMIM:601438
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Vertebral wedging, Intestinal malrotation, Micrognathia, Thin upper lip vermilion OMIM:617866
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Kyphosis, Micrognathia, Absent uvula... OMIM:619708
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the lungs, Bifid tongue, Cleft palate, Ab... ORPHA:2167
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Orofaciodigital Syndrome V
Bifid uvula, Hamartoma of tongue, Ankyloglossia, Median cleft upper lip, Thin upper lip vermilion... OMIM:174300
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Platyspondyly, Increased vertebral height, Pectus excavatum, High ... OMIM:620662
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Vertebral compression fracture, Microretrognathia, Tooth agenesis OMIM:616229
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid... OMIM:618779
Bruck Syndrome
Platyspondyly, Scoliosis, Kyphosis ORPHA:2771
Loeys-Dietz Syndrome 5
Bifid uvula, Retrognathia, Cleft soft palate, Tented upper lip vermilion, Spondylolisthesis, Kyph... OMIM:615582
Trisomy 8Q
Micrognathia, Abnormal oral frenulum morphology, Orofacial cleft, Short neck, Everted lower lip v... ORPHA:1752
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Posterior wedging of vertebral bodies, Aplasia/Hypoplasia of the vertebrae, Respir... ORPHA:168549
Craniolenticulosutural Dysplasia
Bifid uvula, Carious teeth, Posterior wedging of vertebral bodies, Delayed eruption of teeth, Lon... OMIM:607812
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Atelectasis, Abnormality of the temporomandibular joint, Open mouth, Protruding ton... ORPHA:258
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly ORPHA:157965
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Smooth philtrum, Cleft soft palate, Esophageal atresia OMIM:614526
Metaphyseal Chondrodysplasia, Schmid Type
Platyspondyly, Lumbar hyperlordosis, Scoliosis, Irregular vertebral endplates OMIM:156500
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Neonatal death, Tracheoesopha... OMIM:314390
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Pectus excavatum, Scoliosis, Barrel-shaped chest OMIM:619131
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis, Aplasia/Hypoplasia of the lungs ORPHA:93274
Stickler Syndrome, Type Iv
Platyspondyly, Scoliosis, Intervertebral space narrowing OMIM:614134
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Abnormality of the dentition, Lumbar hyperlordosis, Malar flattening, Biconcave ve... OMIM:271510
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Narrow vertebral interpedicular distance, Short neck, Scoliosis, Irregular vertebr... OMIM:618395
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Short neck, Atlantoaxial instability, Kyphoscoliosis OMIM:184095
Short-Rib Thoracic Dysplasia 12
Natal tooth, Lobulated tongue, Atelectasis, Hamartoma of tongue, Intestinal malrotation, Median c... OMIM:269860
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Dysplastic sacrum, Death in childhood, Death in infancy, Short neck, Deep philtrum, Severe platys... OMIM:613320
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Tented upper lip vermilion, Malar flattening, Short neck, Thoracolumbar scoliosis,... OMIM:616723
Raine Syndrome
Mandibular prognathia, Natal tooth, Gingival overgrowth, Narrow mouth, Protruding tongue, Microgn... OMIM:259775
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Thoracic kyphosis OMIM:619638
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Postaxial Acrofacial Dysostosis
Conical tooth, Supernumerary vertebrae, Cleft upper lip, Micrognathia, Malar flattening, Midgut m... OMIM:263750
Native American Myopathy
Progressive congenital scoliosis, Bifid uvula, Downturned corners of mouth, Micrognathia, Submuco... ORPHA:168572
Stickler Syndrome
Open bite, Micrognathia, Short hard palate, Hypoplasia of the maxilla, Cleft palate, Platyspondyl... ORPHA:828
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Sclerotic vertebral endplates, Decreased cervical spine mobility, Kyphoscoliosis OMIM:208230
Ollier Disease
Platyspondyly ORPHA:296
Schwartz-Jampel Syndrome
Pursed lips, Micrognathia, Narrow mouth, Short neck, Everted lower lip vermilion, High palate, Sp... ORPHA:800
Osteogenesis Imperfecta, Type Xxiii
Severe platyspondyly OMIM:620639
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wide anterior fontanel OMIM:601356
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Autosomal Dominant Popliteal Pterygium Syndrome
Lip pit, Fibrous syngnathia, Micrognathia, Thin upper lip vermilion, Scoliosis, Non-midline cleft... ORPHA:1300
Mosaic Trisomy 20
Craniofacial asymmetry, Cleft lip, Retrognathia, Spinal canal stenosis, Micrognathia, Vertebral s... ORPHA:1724
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic sinusitis, Bronchiectasis, Atelectasis ORPHA:922
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Dentinogenesis imperfecta, Barrel-shaped chest, Vertebral compression fracture, Sc... OMIM:610915
Infantile Liver Failure Syndrome 3
Platyspondyly, Beaking of vertebral bodies, Death in childhood, Hypoplastic vertebral bodies OMIM:618641
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Kyphoscoliosis, Short neck, Scoliosis OMIM:184252
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Lumbar hyperlordosis, Platyspondyly, Irregular vertebral endplates ORPHA:174
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Long philtrum, Cleft soft palate, Gingival overgrowth, Micrognathia... OMIM:618529
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Saul-Wilson Syndrome
Platyspondyly, Hypoplasia of the odontoid process, Micrognathia, Pectus excavatum, Wide anterior ... OMIM:618150
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplastic facial bones, Mandibular prognathia, Hypoplasia of the odontoid proces... OMIM:223800
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Wide anterior fontanel, Abnormal dental enamel morphology, Abnormal dental morphology, Micrognath... ORPHA:85199
3Mc Syndrome 2
Abnormal vertebral morphology, Caudal appendage, Downturned corners of mouth, Cleft upper lip, Ab... OMIM:265050
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Everted lower lip vermilion, T... ORPHA:534
Chand Syndrome
Atelectasis, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenes... ORPHA:1401
Primary Ciliary Dyskinesia
Atelectasis, Intestinal malrotation, Pulmonary situs ambiguus, Respiratory tract infection, Chron... ORPHA:244
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Lumbar hyperlordosis, Microdontia, Abnormal intestine morphology, Hypodontia, Abno... ORPHA:1830
Mhc Class I Deficiency 1
Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Bronchiectasis OMIM:604571
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Retrognathia, Atelec... OMIM:613177
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Greenberg Dysplasia
Platyspondyly, Hypoplasia of the maxilla, Retrognathia, Supernumerary vertebral ossification cent... OMIM:215140
Branchioskeletogenital Syndrome
Bifid uvula, Abnormality of the dentition, Carious teeth, Thoracolumbar kyphoscoliosis, Downturne... ORPHA:1299
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Amish Lethal Microcephaly
Micrognathia, Cleft soft palate, Death in infancy ORPHA:99742
Gm1 Gangliosidosis Type 1
Platyspondyly, Long philtrum, Aspiration pneumonia, Beaking of vertebral bodies T12-L3, Gingival ... ORPHA:79255
Orofaciodigital Syndrome Type 10
Retrognathia, Long philtrum, Micrognathia, Cleft soft palate, Short neck, Accessory oral frenulum ORPHA:2756
Kyphomelic Dysplasia
Platyspondyly, Cleft upper lip, Micrognathia, Cleft palate OMIM:211350
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Natal tooth, Long philtrum, Micrognathia, Protruding tongue, Malar flattening, Pul... ORPHA:50945
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Cantú Syndrome
Platyspondyly, Long philtrum, Cuboid-shaped vertebral bodies, Short neck, Thick vermilion border,... ORPHA:1517
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Cleft soft palate... OMIM:117650
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Spondyloperipheral Dysplasia
Platyspondyly, Malar flattening, Barrel-shaped chest, Short neck, Kyphosis, Ovoid vertebral bodie... OMIM:271700
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Platyspondyly, Lumbar hyperlordosis, Recurrent sinusitis, Kyphoscoliosis, Increased in... OMIM:607944
Cree Impaired Intellectual Development Syndrome
Micrognathia, Pectus excavatum, Cleft soft palate OMIM:606851
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Craniofacial osteosclerosis, Tented upper lip vermilion,... OMIM:618476
Spondyloenchondrodysplasia
Pneumonia, Platyspondyly, Dental malocclusion, Delayed eruption of teeth, Kyphosis ORPHA:1855
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ... OMIM:612387
Thanatophoric Dysplasia Type 1
Platyspondyly, Abnormal sacroiliac joint morphology, Aplasia/Hypoplasia of the lungs, Kyphosis, W... ORPHA:1860
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Dentinogenesis imperfecta, Vertebral compression fracture, Kyphoscoliosis OMIM:616507
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Platyspondyly, Abnormality of the dentition, Thoracic platyspondyly, Tented upper lip vermilion, ... ORPHA:457395
Meier-Gorlin Syndrome 1
Hypoplasia of the maxilla, Emphysema, Micrognathia, Narrow mouth, Death in infancy, Microdontia, ... OMIM:224690
Holoprosencephaly 13, X-Linked
Thoracic hemivertebrae, Micrognathia, Median cleft palate, Butterfly vertebrae, Submucous cleft h... OMIM:301043
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Platyspondyly, Microretrognathia, Long philtrum, Micrognathia, Narrow mouth, Microdontia, Short n... OMIM:245600
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Lumbar hyperlordosis, Neonatal death, Kyphosis, Wide anterior fontanel OMIM:616482
Bcard Syndrome
Platyspondyly, Abnormality of the dentition, Downturned corners of mouth, Malar flattening, Scoli... OMIM:612394
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Melnick-Needles Syndrome
Tooth malposition, Delayed eruption of teeth, Micrognathia, Anterior concavity of thoracic verteb... OMIM:309350
Osteoglophonic Dysplasia
Platyspondyly, Hypoplasia of the maxilla, Delayed eruption of teeth, Eruption failure, Long philt... OMIM:166250
Cleft Soft Palate
Cleft soft palate OMIM:119570
Achondroplasia
Lumbar hyperlordosis, Malar flattening, Death in infancy, Narrow vertebral interpedicular distanc... OMIM:100800
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Thick lower lip vermilion, Emphysema, Micrognathia, Narrow mouth OMIM:613804
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly ORPHA:93351
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Abnormality of the dentition, Platyspondyly, Congenital kyphoscoli... ORPHA:536471
Fontaine Progeroid Syndrome
Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Everted lower lip vermilion, High,... OMIM:612289
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Recurrent pneumonia, Hypoplasia of the odontoid process, Long philtrum, C... ORPHA:508533
Hypoglossia-Hypodactyly Syndrome
Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Micrognathia, Narrow mouth, D... ORPHA:989
Intellectual Developmental Disorder, Autosomal Dominant 73
Kyphosis, Retrognathia, Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Lumbar hyp... OMIM:620450
Dyggve-Melchior-Clausen Disease
Platyspondyly, Recurrent upper respiratory tract infections, Hypoplasia of the odontoid process, ... ORPHA:239
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Irregular sclerotic endplates OMIM:602111
Acromesomelic Dysplasia 4
Platyspondyly, Thoracic platyspondyly, Lumbar hyperlordosis, Thoracic scoliosis, Beaking of verte... OMIM:619636
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Stomatitis OMIM:618307
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Atelectasis ORPHA:896
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Kyphoscoliosis, Abnormal curvature of the vertebral column... ORPHA:93360
Schimke Immunoosseous Dysplasia
Platyspondyly, Lumbar hyperlordosis, Microdontia, Short neck, Ovoid vertebral bodies, Thoracic ky... OMIM:242900
Cerebrocostomandibular Syndrome
Micrognathia, Death in infancy, Short hard palate, Glossoptosis, Kyphosis, Cleft palate ORPHA:1393
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Abnormal lung lobation, Scoliosis, Cleft palate OMIM:217100
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Microglossia, Hamartoma of tongue, Intestinal malrotation, Median cleft upper lip,... OMIM:263520
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Platyspondyly, Long philtrum, Micrognathia, Malar flattening, Ovoid vertebral bodies, Kyphoscolio... OMIM:271640
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Hypophosphatasia
Emphysema, Abnormality of the dentition ORPHA:436
Marfan Syndrome
High, narrow palate, Spontaneous pneumothorax, Pulmonary artery dilatation, Dental crowding, Retr... ORPHA:558
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Platyspondyly, Recurrent pneumonia, Hypoplasia of the odontoid process, Atlantoaxial instability,... OMIM:271665
Bruck Syndrome 2
Platyspondyly OMIM:609220
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ankyloglossia, Cleft soft palate, Open mouth, Short neck, High, narrow palate, Downturned corners... OMIM:619950
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Cleft palate OMIM:243440
Myhre Syndrome
Platyspondyly, Hypoplasia of the maxilla, Cleft lip, Enlarged vertebral pedicles, Narrow mouth, M... OMIM:139210
Marfan Syndrome
Pulmonary artery dilatation, Dental crowding, Retrognathia, Emphysema, Micrognathia, Spondylolist... OMIM:154700
Czech Dysplasia
Platyspondyly, Thoracic kyphosis, Intervertebral space narrowing, Scoliosis, Irregular vertebral ... OMIM:609162
Lymphedema-Distichiasis Syndrome
Chylothorax, Cleft upper lip, Micrognathia, Kyphosis, Cleft palate OMIM:153400
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros... OMIM:610978
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly OMIM:300863
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Dental malocclusion, Severe platyspondyly, Scoliosis, Ovoid vertebral bodies OMIM:608940
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Microretrognathia, Atelectasis, Tented upper lip vermilion, Smooth philtrum, Evert... OMIM:620371
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti... ORPHA:51636
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Micrognathia, Cleft soft palate, Submucous cleft soft palate, Short neck, Recurrent respiratory i... ORPHA:2282
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
Popliteal Pterygium Syndrome
Bifid uvula, Fibrous syngnathia, Cleft upper lip, Lower lip pit, Spina bifida occulta, Cleft palate OMIM:119500
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Opsismodysplasia
Hypoplasia of the odontoid process, Long philtrum, Hypoplastic vertebral bodies, Short neck, Seve... OMIM:258480
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Thick lower lip vermilion, Spondylolisthesis, Beaking of vertebral ... OMIM:208400
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Sillence Syndrome
Abnormal vertebral morphology, Platyspondyly, Intervertebral disk degeneration, Scoliosis, Back pain ORPHA:3168
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence OMIM:620183
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Absent frontal sinuses, Bronchie... OMIM:244400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Retrognathia, Emphysema, Micrognathia, De... OMIM:614437
Alpha-Mannosidosis, Infantile Form
Pneumonia, Platyspondyly, Widely spaced teeth, Abnormality of the sphenoid sinus, Short neck, Pec... ORPHA:309282
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Pleural effusion, Atelectasis ORPHA:2902
Meier-Gorlin Syndrome 6
Microretrognathia, Emphysema, Thick vermilion border, Recurrent respiratory infections, Cleft palate OMIM:616835
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Delayed eruption of teeth, Emphyse... ORPHA:289
Sponastrime Dysplasia
Platyspondyly, Recurrent pneumonia, Mandibular prognathia, Abnormality of the vertebral column, L... ORPHA:93357
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Smooth philtrum, Short philtrum, Cleft soft palate, Retrognathia ORPHA:293725
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Thin upper lip vermili... OMIM:620233
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Osteogenesis Imperfecta, Type Ii
Platyspondyly OMIM:166210
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Dental crowding, Delayed eruption of teeth, Micrognathia, Narrow mouth, Submucous cl... OMIM:300990
22Q11.2 Deletion Syndrome
Abnormality of the dentition, Carious teeth, Atelectasis, Abnormal lung lobation, Intestinal malr... ORPHA:567
Digeorge Syndrome
High, narrow palate, Bifid uvula, Recurrent pneumonia, Atelectasis, Micrognathia, Intervertebral ... OMIM:188400
Occipital Horn Syndrome
Platyspondyly, Long philtrum, Hiatus hernia, Pectus excavatum, High palate, Kyphosis OMIM:304150
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Barrel-shaped chest, Severe platyspond... OMIM:259770
Treacher Collins Syndrome 2
Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening... OMIM:613717
Lowry-Wood Syndrome
Platyspondyly ORPHA:1824
Otopalatodigital Syndrome, Type Ii
Platyspondyly, Spondylolysis, Micrognathia, Narrow mouth, Malar flattening, Kyphoscoliosis, Short... OMIM:304120
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord... OMIM:618019
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Geleophysic Dysplasia 1
Platyspondyly, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Pectus excavatum, Wide m... OMIM:231050
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory tract infection, Hyperlordosis, Macroglossia, Scoliosis ORPHA:365
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Intestinal malrotation, Pectus excavatum, Abnormal pulmonary interstitial morphology, ... OMIM:613658
Viss Syndrome
Cleft soft palate, Micrognathia, Celiac disease, High palate, Duodenitis, High, narrow palate, Pu... OMIM:619472
Spondyloocular Syndrome
Platyspondyly, Abnormality of the dentition, Vertebral compression fracture, Duodenal ulcer OMIM:605822
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Micrognathia, Malar flattening, Wide mouth, Abnormal parotid gla... OMIM:154500
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Hypoplasia of the maxilla, Downturned corners of mouth, Emphysema, Lumbar hyperlordo... ORPHA:500150
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Biconcave flattened vertebrae OMIM:166200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Scoliosis, Ovoid vertebral bodies ORPHA:85167
Occipital Horn Syndrome
High, narrow palate, Platyspondyly, Long philtrum, Esophagitis, Hiatus hernia, Pectus excavatum, ... ORPHA:198
Holoprosencephaly 2
Bifid uvula, Median cleft palate, Malar flattening, Submucous cleft hard palate, Bilateral cleft ... OMIM:157170
Common Variable Immunodeficiency
Pneumonia, Emphysema, Recurrent bronchitis, Gastrointestinal stroma tumor, Anal atresia, Recurren... ORPHA:1572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Platyspondyly, Sinusitis OMIM:102700
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Platyspondyly, Recurrent pneumonia, Dental crowding, Kyphoscoli... OMIM:225400
Hardikar Syndrome
Unilateral cleft lip, Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Pulmonar... OMIM:301068
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Short neck, Coronal cleft vertebrae, Butterfly vertebrae OMIM:620076
Hypocomplementemic Urticarial Vasculitis
Emphysema, Pleural effusion ORPHA:36412
Farber Disease
Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT, Atelectasis ORPHA:333
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retrognathia, Widely spaced teeth, Cleft soft palate, Pectus excavatum, Supernumerary tooth, Scol... ORPHA:268261
Neonatal Marfan Syndrome
Emphysema, Micrognathia, High, narrow palate ORPHA:284979
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atlantoaxial instability, Cleft soft palate, Kyphoscoliosis OMIM:614557
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections OMIM:242700
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Platyspondyly, Thick lower lip vermilion, Short neck, Thick vermilion border, Posterior scallopin... OMIM:610442
Netherton Syndrome
Emphysema, Recurrent respiratory infections ORPHA:634
Limb-Mammary Syndrome
Bifid uvula, Cleft lip, Malar flattening, Submucous cleft soft palate, Hypodontia, Cleft hard pal... ORPHA:69085
Zygomycosis
Colon perforation, Atelectasis, Pleural effusion, Ileitis, Gastritis, Pneumothorax, Enterocolitis... ORPHA:73263
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Branchiooculofacial Syndrome
Abnormality of the dentition, Kyphosis, Cleft upper lip, Micrognathia, Branchial anomaly, Lower l... OMIM:113620
Immunodeficiency 89 And Autoimmunity
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening OMIM:619632
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Increased int... OMIM:619727
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... OMIM:245150
Alpha-1-Antitrypsin Deficiency
Emphysema, Bronchiectasis, Bronchitis ORPHA:60
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Death in childhood, Pectus excavatum, Recurrent respiratory infections, Pulmonary fi... OMIM:618278
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Bronchiolitis, Small bowel diverticula, Emphysema, Abnormal... ORPHA:90348
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Abnormal denta... ORPHA:2273
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Emphysema, Nodular pattern ... OMIM:130050
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormal salivary gland morphology, Emphysema, Pleural effus... OMIM:181000
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp... ORPHA:538
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Platyspondyly, Micrognathia, Death in childhood, Death in infancy, Short neck, Stillbirth, Cleft ... OMIM:210710
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Pectus excavatum, Peripheral pulmonary artery stenosis, Recurrent respiratory infections OMIM:219100
Diamond-Blackfan Anemia
Cleft lip, Cleft soft palate, Micrognathia, Short neck, Adenocarcinoma of the colon, High palate ORPHA:124
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Pleural effusion, Atelectasis, Rectal abscess OMIM:306400
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Small bowel diverticula, Emphysema, Pn... ORPHA:90349
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, S... OMIM:619503
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Lumbar hyperlordosi... OMIM:300106
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Malar flattening, Cleft of chin, Narrow palate, Cleft palate OMIM:101400
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis, Long philtrum OMIM:123700
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Scoliosis, Enamel hypoplasia, Kyphosis OMIM:309000
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Platyspondyly, Recurrent pneumonia, Retrognathia, Long philtrum, Lumbar scoliosis, Short neck, Th... ORPHA:99646
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly ORPHA:93317
Relapsing Polychondritis
Anteriorly placed anus, Recurrent aphthous stomatitis, Atelectasis ORPHA:728
Proteus Syndrome
Pulmonary cyst, Carious teeth, Bronchogenic cyst, Abnormal form of the vertebral bodies, Abnormal... ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:261537
Sotos Syndrome
Abnormal vertebral morphology, Small cell lung carcinoma, Abnormality of the dentition, Agenesis ... ORPHA:821
Sarcoidosis
Chylothorax, Parotitis, Emphysema, Abnormal pleura morphology, Pleural effusion, Enlargement of p... ORPHA:797
Mowat-Wilson Syndrome
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:261552
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Smooth philtrum, Cleft soft palate, Downturned corners of mouth OMIM:619321
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Short neck OMIM:250220
Fabry Disease
Emphysema, Thick lower lip vermilion ORPHA:324
Nocardiosis
Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis ORPHA:31204
Pmm2-Cdg
Platyspondyly, Mandibular prognathia, Retrognathia, Long philtrum, Aspiration pneumonia, Kyphosco... ORPHA:79318
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Holt-Oram Syndrome
Long philtrum, Cleft soft palate, Micrognathia, Thoracic scoliosis, Cervical C2/C3 vertebral fusi... OMIM:142900
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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