Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
BarH-like homeobox 1
Synonyms:
N/A

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 Barx1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Barx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth OMIM:183300
Syngnathia
Cleft palate OMIM:119550
Gastric Cancer
Stomach cancer OMIM:613659
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence OMIM:261800
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... ORPHA:2025
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence OMIM:311895
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Steatocystoma Multiplex
Natal tooth OMIM:184500
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Cleft... OMIM:618761
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... ORPHA:2325
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Mesomelic Limb Shortening And Bowing
Micrognathia, Retrognathia, Cleft palate OMIM:249710
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Micrognathia, Cleft palate, Glossoptosis ORPHA:3104
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Auriculocondylar Syndrome 4
Micrognathia, Narrow mouth, Glossoptosis, Cleft palate OMIM:620457
Split-Foot Deformity With Mandibulofacial Dysostosis
Micrognathia, Malar flattening, Cleft palate OMIM:183700
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Tooth agenesis, Micrognathia, Anal atresia, Abnormality of the philtru... ORPHA:2863
Ramon Syndrome
Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth ORPHA:3019
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Clef... ORPHA:2521
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... ORPHA:1811
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat... OMIM:618342
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Micrognathia, Malar flattening, Oligodontia OMIM:613857
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Abnormality of the dentition, Conical tooth, Solitary median maxillary central inc... ORPHA:952
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi... OMIM:619736
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis, Neonatal death OMIM:619817
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death OMIM:612138
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia ORPHA:181
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption OMIM:606893
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Wide mouth, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border OMIM:618506
Microphthalmia, Syndromic 12
Retrognathia, Intestinal malrotation, Micrognathia, Neonatal death, Cleft palate OMIM:615524
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Gastric diverticulum, Adenomatous coloni... ORPHA:157798
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth ORPHA:1816
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Malar flattening, Glossoptosis, Cleft palate ORPHA:166100
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Tetrasomy 12P
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... OMIM:616367
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wide mouth OMIM:618825
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Narrow mouth, Malar flattening, Death in infancy, Cleft palate ORPHA:93946
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth, Esophageal stricture OMIM:616029
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Death in infancy, Retrognathia ORPHA:166272
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... OMIM:602483
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick vermilion border, High... OMIM:614607
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Microphthalmia, Syndromic 8
Widely-spaced maxillary central incisors, Cleft upper lip, Orofacial cleft, Mandibular prognathia... OMIM:601349
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate OMIM:613849
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Thick vermilion border, Sh... ORPHA:137834
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Cleft palate OMIM:246560
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Long philtrum, Gingival overgrowth, Open ... ORPHA:420561
Camptodactyly Syndrome, Guadalajara Type 1
Dental malocclusion, Downturned corners of mouth, Open bite, Narrow mouth, Abnormality of dental ... ORPHA:1327
Coffin-Siris Syndrome 3
Long philtrum, Delayed eruption of permanent teeth, Thick vermilion border, Macroglossia, High pa... OMIM:614608
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm... ORPHA:10
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Pycnodysostosis
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... OMIM:265800
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed eruption of permanent teeth OMIM:619356
Aarskog-Scott Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum... ORPHA:915
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Spinocerebellar Ataxia, Autosomal Recessive 20
Dental crowding, Delayed eruption of teeth, Long philtrum, Broad philtrum, Thick vermilion border... OMIM:616354
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Delayed eruption of teeth OMIM:614450
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Intest... ORPHA:2712
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Bamforth-Lazarus Syndrome
Retrognathia, Cleft palate ORPHA:1226
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Death in infancy OMIM:272300
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion OMIM:619797
Laron Syndrome
Tooth agenesis, Micrognathia, Delayed eruption of teeth, Microdontia ORPHA:633
Faciocardiomelic Dysplasia, Lethal
Microglossia, Retrognathia, Micrognathia, Narrow mouth, Neonatal death OMIM:227270
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M... ORPHA:50814
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth, Advanced eruption of ... ORPHA:1133
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Micrognathia, Abnormal palate morphology, Multiple unerupted teeth, Anal atresia,... ORPHA:2063
Hemifacial Microsomia With Radial Defects
Orofacial cleft, Cleft palate, Non-midline cleft of the upper lip, Short mandibular rami OMIM:141400
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Treacher Collins Syndrome 3
Micrognathia, Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate OMIM:248390
4H Leukodystrophy
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth ORPHA:289494
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Cerebrooculofacioskeletal Syndrome 1
Carious teeth, Delayed eruption of teeth, Long philtrum, Micrognathia, Death in childhood, Thin v... OMIM:214150
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... OMIM:204690
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Hypodontia, High palate OMIM:612350
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... OMIM:157980
Craniometadiaphyseal Dysplasia
Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Malar flattening, Microdon... OMIM:269300
Char Syndrome
Agenesis of permanent teeth, Persistence of primary teeth, Malar flattening, Triangular mouth, Ev... ORPHA:46627
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Dermatitis Herpetiformis
Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth ORPHA:1656
Cherubism
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... OMIM:118400
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... ORPHA:1452
Hall-Riggs Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Thick ... ORPHA:2107
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, High palate, Mandibular prognathia OMIM:262190
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Micrognathia, Natal tooth, Death in childhood, Death in infancy OMIM:616901
Three M Syndrome 2
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Malar flattening, Thick vermilion ... OMIM:612921
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Neonatal death OMIM:609638
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Natal tooth, Cleft palate OMIM:617337
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Delayed eruption of teeth, Retrognathia, Facial hyperostosis, M... ORPHA:2780
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum ORPHA:3214
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate ORPHA:2736
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... OMIM:170390
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Narrow palate, Delayed eruption of teeth, T... ORPHA:192
Acrootoocular Syndrome
High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Grayish enamel... ORPHA:2980
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Facial hyperos... OMIM:218400
Bent Bone Dysplasia Syndrome 1
Micrognathia, Natal tooth, Malar flattening, Gingival overgrowth OMIM:614592
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Eiken Syndrome
Eruption failure, Thick lower lip vermilion, Persistence of primary teeth, Multiple impacted teet... OMIM:600002
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypodontia, Natal tooth, Oligodontia OMIM:601345
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Death in infancy, Delayed eruption of teeth, Long philtrum OMIM:184260
Raine Syndrome
Mandibular prognathia, Natal tooth, Micrognathia, Narrow mouth, Protruding tongue, Malar flatteni... OMIM:259775
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Craniolenticulosutural Dysplasia
Bifid uvula, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, Malar flattenin... OMIM:607812
Osteoglosphonic Dysplasia
Multiple unerupted teeth, Micrognathia, Tooth agenesis ORPHA:2645
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... OMIM:618727
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers... ORPHA:763
Lowry-Maclean Syndrome
High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg... ORPHA:2409
Emanuel Syndrome
Broad jaw, Tooth malposition, Bifid uvula, Submucous cleft lip, Dental crowding, Delayed eruption... ORPHA:96170
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypodontia, Natal tooth, Delayed eruption of teeth, Oligodontia OMIM:614381
Trisomy 9P
Impacted tooth, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth ORPHA:236
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
48,Xxxy Syndrome
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont... ORPHA:96263
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Marbach-Rustad Progeroid Syndrome
Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Hypodontia, Smoo... OMIM:619322
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Downturned corners of mouth, Widely spaced teeth, Open mouth, Advanced eruption of teeth, Everted... OMIM:617865
Codas Syndrome
Abnormal dental enamel morphology, Abnormal dental morphology, Delayed eruption of teeth ORPHA:1458
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
High palate, Supernumerary tooth, Persistence of primary teeth OMIM:619752
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypodontia, Delayed eruption of teeth, Oligodontia ORPHA:447896
Chromosome 13Q33-Q34 Deletion Syndrome
Cleft lip, Delayed eruption of teeth, Anteriorly placed anus, Micrognathia, Open mouth, Irregular... OMIM:619148
Dysosteosclerosis
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth ORPHA:1782
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Malar flattening, Protruding tongue, Everted lower lip... OMIM:610253
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Death in infancy... ORPHA:2315
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Micrognathia, Micro... OMIM:190350
49,Xxxxy Syndrome
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth OMIM:617105
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Pachyonychia Congenita
Angular cheilitis, Natal tooth, Oral leukoplakia, Advanced eruption of teeth ORPHA:2309
Pachyonychia Congenita 2
Angular cheilitis, Natal tooth, Oral leukoplakia OMIM:167210
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Cockayne Syndrome Type 2
Widely spaced primary teeth, Hypoplasia of the primary teeth, Delayed eruption of primary teeth, ... ORPHA:90322
Osteopetrosis, Autosomal Recessive 2
Persistence of primary teeth, Carious teeth, Mandibular prognathia, Mandibular osteomyelitis OMIM:259710
Smith-Magenis Syndrome
Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, Delayed eruption of primar... ORPHA:819
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Thick vermilion border, Open mouth, Everted lower lip vermilion, High ... OMIM:615866
Multiple Pterygium-Malignant Hyperthermia Syndrome
Downturned corners of mouth, Abnormal mandible morphology, Long philtrum, Narrow mouth, Exaggerat... ORPHA:2215
Emanuel Syndrome
Broad jaw, Dental crowding, Long philtrum, Intestinal malrotation, Micrognathia, Recurrent sinusi... OMIM:609029
Elsahy-Waters Syndrome
Bifid uvula, Hypoplasia of the maxilla, Anal stenosis, Dental malocclusion, Delayed eruption of t... OMIM:211380
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Trichothiodystrophy 3, Photosensitive
Carious teeth, Meckel diverticulum, Natal tooth, Eclabion, Pyloric stenosis OMIM:616395
Tetraamelia Syndrome 2
Microretrognathia, Ankyloglossia, Micrognathia, Bilateral cleft lip, Glossoptosis, Cleft palate OMIM:618021
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Incompl... OMIM:616300
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Gingivitis, Abnormality of the dentition, Delayed eruption of teeth, Cleft palate ORPHA:2314
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... OMIM:619229
Andersen-Tawil Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Persistence of primary ... ORPHA:37553
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Short philtrum, Micrognathia, Cleft palate ORPHA:949
Brachydactyly, Type B1
Delayed eruption of permanent teeth OMIM:113000
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Delayed eruption of teeth, Micrognathia, Oligodontia, Abse... OMIM:224300
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth ORPHA:2050
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Persistence of primary teeth, Dental crowding OMIM:619769
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Micrognathia, Natal tooth, Volvulus OMIM:617802
Frontometaphyseal Dysplasia 1
Dental malocclusion, Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary ... OMIM:305620
Apert Syndrome
Bifid uvula, Hypoplasia of the maxilla, Delayed eruption of teeth, Ectopic anus, Esophageal atres... ORPHA:87
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo... OMIM:300048
Teebi Hypertelorism Syndrome 1
Dental crowding, Natal tooth, Long philtrum, Micrognathia, Thin upper lip vermilion OMIM:145420
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Retrognathia, Long philtrum, Micrognathia, Abnormality of dental eruption, E... ORPHA:96092
Trichodermodysplasia-Dental Alterations Syndrome
Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis ORPHA:3353
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Delayed eruption of teeth, Retrognathia, Intestinal lymphangiectasia,... OMIM:235510
Barber-Say Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien... OMIM:209885
Kabuki Syndrome 2
Natal tooth, Dental malocclusion, Micrognathia, Lower lip pit, Hypodontia, High palate, Cleft palate OMIM:300867
Ellis-Van Creveld Syndrome
Natal tooth, Delayed eruption of teeth, Cleft upper lip, Hypodontia, Abnormal alveolar ridge morp... OMIM:225500
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Cleft palate OMIM:243440
Kleefstra Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Tented upper lip vermilion, Malar flatten... ORPHA:261494
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Micrognathia, Delayed eruption of teeth ORPHA:73272
Short Syndrome
Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, Micrognathia, Hypodo... OMIM:269880
Hypoglossia-Hypodactyly Syndrome
Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Micrognathia, Narrow mouth, D... ORPHA:989
Melnick-Needles Syndrome
Tooth malposition, Craniofacial hyperostosis, Micrognathia, Delayed eruption of teeth ORPHA:2484
Gapo Syndrome
Delayed eruption of teeth, Long philtrum, Micrognathia, Abnormal palate morphology, Everted lower... ORPHA:2067
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Micrognathia, Hig... ORPHA:476126
Cleidocranial Dysplasia 1
High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal s... OMIM:119600
Sotos Syndrome
High, narrow palate, Narrow jaw, Advanced eruption of teeth, High palate, Narrow palate, Mandibul... OMIM:117550
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Long philtrum ORPHA:263463
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth OMIM:277440
Acrodysostosis
Hypoplasia of the maxilla, Delayed eruption of teeth, Open bite, Open mouth, Mandibular prognathia ORPHA:950
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Immunodeficiency 49
Short philtrum, Micrognathia, Natal tooth OMIM:617237
3M Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p... ORPHA:2616
Recon Progeroid Syndrome
Dental crowding, Prominence of the premaxilla, Smooth philtrum, Thin vermilion border, Delayed er... OMIM:620370
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Narrow mouth, Malar flattening, Multiple impacted teeth, Absent frontal... OMIM:311300
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, M... OMIM:234100
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the dentition, Anal atresia, Natal tooth, Thick lower lip vermilion ORPHA:261652
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala... ORPHA:2250
Familial Adenomatous Polyposis 1
Carious teeth, Eruption failure, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric po... OMIM:175100
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Anal stenosis, Natal tooth, Craniofacial osteosclerosis, Dental malocclusion, Dental... OMIM:300373
Microphthalmia, Lenz Type
Abnormality of the dentition, Orofacial cleft, Delayed eruption of teeth, Abnormal dental morphology ORPHA:568
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Intestinal pseudo-obstruction, Widely spaced teeth, Thick lower lip ve... OMIM:309900
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long phil... OMIM:180700
Carpenter Syndrome 1
Hypoplasia of the maxilla, Agenesis of permanent teeth, Persistence of primary teeth, Micrognathi... OMIM:201000
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Periodontitis, Retrognathia, Delayed eruption of permanent teeth, Prem... OMIM:619269
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Narrow palate, Natal tooth, Anteriorly placed anus, Gingival overgrowth, Narrow mout... OMIM:123790
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Dental crowding, Delayed eruption of teeth, Micrognathia, Narrow mouth, Submucous cl... OMIM:300990
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth ORPHA:2348
Lethal Acantholytic Erosive Disorder
Natal tooth, Cleft palate ORPHA:158687
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Anteriorly placed anus, Agenesis of permanent t... OMIM:268400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma ORPHA:64743
Familial Osteodysplasia, Anderson Type
Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Malar flattening, Abnor... ORPHA:2769
Apert Syndrome
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Malar flattening, Ectopic anus, Esop... OMIM:101200
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw ORPHA:199276
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thick upper lip vermilion, Micrognathia, Thin upper lip vermilion, Duo... OMIM:247200
Cornelia De Lange Syndrome 1
High, narrow palate, Downturned corners of mouth, Cleft upper lip, Widely spaced teeth, Long phil... OMIM:122470
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Hamartoma of tongue, Micrognathia, Neonatal death, Anal atresia, Esophage... OMIM:617925
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Hia... ORPHA:2538
Rothmund-Thomson Syndrome
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Selective tooth agenesis,... ORPHA:2909
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Dental crowding, Furrowed tongue, Gingival overgrowth, Advanced eru... ORPHA:769
Dubowitz Syndrome
Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Agenesis of permanent tee... OMIM:223370
Cockayne Syndrome Type 1
Abnormality of the dentition, Widely spaced primary teeth, Hypoplasia of the primary teeth, Delay... ORPHA:90321
Robinow Syndrome
Tooth malposition, Dental malocclusion, Dental crowding, Long philtrum, Ankyloglossia, Persistenc... ORPHA:97360
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Gin... OMIM:135500
Hennekam Syndrome
Abnormal oral mucosa morphology, Delayed eruption of teeth, Retrognathia, Tooth agenesis, Abnorma... ORPHA:2136
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Hypodontia, Mandibular... OMIM:101800
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Neonatal death, Me... OMIM:269860
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Everted lower lip vermilion, T... ORPHA:534
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal dental morpho... ORPHA:369950
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Delayed eruption of teeth, Microdo... ORPHA:289
Endocrine-Cerebroosteodysplasia
Natal tooth, Thick upper lip vermilion, Micrognathia, Median cleft palate, Median cleft upper lip... OMIM:612651
Lead Poisoning
Delayed eruption of teeth, Miscarriage ORPHA:330015
Melnick-Needles Syndrome
Tooth malposition, Delayed eruption of teeth, Micrognathia, Stillbirth, Obtuse angle of mandible,... OMIM:309350
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Natal tooth, Micrognathia, Narrow mouth, Malar... ORPHA:2108
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Tented upper lip vermilion, Short philtrum, Mandibular prognathia, Delayed eruption of permanent ... ORPHA:521445
Robinow Syndrome, Autosomal Recessive 1
Narrow palate, Microglossia, Dental crowding, Retrognathia, Downturned corners of mouth, Long phi... OMIM:268310
Genitopatellar Syndrome
Micrognathia, Delayed eruption of teeth, Long philtrum ORPHA:85201
Barber-Say Syndrome
Wide mouth, Delayed eruption of teeth ORPHA:1231
Treacher Collins Syndrome 2
Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening... OMIM:613717
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Micrognathia, Narrow philtrum... OMIM:601812
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Narrow mouth, Orofacial cleft, Odontogenic keratocysts ... ORPHA:77301
Rothmund-Thomson Syndrome Type 2
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ... ORPHA:221016
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Stickler Syndrome
Bifid uvula, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Cleft upper lip, Open b... ORPHA:828
Opitz Gbbb Syndrome
Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Micrognathia, Hypodontia, Ectopic anus, Ana... ORPHA:2745
Gardner Syndrome
Abnormality of the dentition, Esophageal carcinoma, Duodenal polyposis, Multiple gastric polyps, ... ORPHA:79665
Osteoglophonic Dysplasia
Hypoplasia of the maxilla, Delayed eruption of teeth, Eruption failure, Long philtrum, Malar flat... OMIM:166250
Gapo Syndrome
High, narrow palate, Eruption failure, Long philtrum, Thick lower lip vermilion, Micrognathia OMIM:230740
Fgfr2-Related Bent Bone Dysplasia
Micrognathia, Natal tooth, Gingival overgrowth ORPHA:313855
Familial Adenomatous Polyposis
Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Stomach cancer, Duo... ORPHA:733
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Retrognathia, Open mouth, Deep philtrum, High palate ORPHA:1675
Dubowitz Syndrome
Abnormality of the dentition, Anal stenosis, Delayed eruption of teeth, Micrognathia, Submucous c... ORPHA:235
Pitt-Hopkins Syndrome
Tooth malposition, Failure of eruption of permanent teeth, Esophagitis, Abnormal palate morpholog... ORPHA:2896
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Cleft lip, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Open mouth,... OMIM:280000
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Carious teeth, Long philtrum, Widely spaced teeth, Thick lower lip vermilion... OMIM:615873
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental morphology, Hypodon... ORPHA:464
Pallister-Hall Syndrome
Microglossia, Natal tooth, Cleft upper lip, Anteriorly placed anus, Neonatal death, Anal atresia,... OMIM:146510
De Barsy Syndrome
High palate, Small, conical teeth, Narrow mouth, Delayed eruption of teeth ORPHA:2962
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology ORPHA:779
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum morphology, Intussusc... ORPHA:512
Ramon Syndrome
Narrow palate, Gingival fibromatosis, Delayed eruption of teeth OMIM:266270
Smith-Lemli-Opitz Syndrome
Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morphology, Abnormal dental m... ORPHA:818
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Micrognathia, Delayed eruption of teeth, Gingival overgrowth OMIM:259600
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Widely spaced teeth, Gingival overgrowth, Alveolar ridge overgrowth, M... OMIM:301072
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth ORPHA:289157
Spondyloenchondrodysplasia
Dental malocclusion, Delayed eruption of teeth ORPHA:1855
Rothmund-Thomson Syndrome Type 1
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ... ORPHA:221008
Blomstrand Lethal Chondrodysplasia
Natal tooth, Long philtrum, Micrognathia, Protruding tongue, Malar flattening ORPHA:50945
Orofaciodigital Syndrome Xiv
Cleft lip, Natal tooth, Microretrognathia, Anteriorly placed anus, Hamartoma of tongue, Micrognat... OMIM:615948
Osteopetrosis With Renal Tubular Acidosis
Tooth malposition, Abnormality of the dentition, Retrognathia, Thick lower lip vermilion, Persist... ORPHA:2785
Incontinentia Pigmenti
Hypodontia, Conical tooth, Delayed eruption of teeth, Oligodontia OMIM:308300
Codas Syndrome
Anal atresia, Rectovaginal fistula, Enamel hypoplasia, Delayed eruption of teeth OMIM:600373
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Advanced eruption of teeth, Micrognathia ORPHA:280365
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Dental crowding, High ... OMIM:614188
Microphthalmia, Syndromic 2
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Persistence of primar... OMIM:300166
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Gingival overgrowth, Delayed eruption of teeth ORPHA:508542
Doors Syndrome
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Narrow palate, ... ORPHA:79500
Mucopolysaccharidosis, Type Vi
Macroglossia, Carious teeth, Delayed eruption of teeth OMIM:253200
Specc1L-Related Hypertelorism Syndrome
Long philtrum, Advanced eruption of teeth, Orofacial cleft, Everted lower lip vermilion, Thin ver... ORPHA:1519
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth OMIM:300952
Spondylocarpotarsal Synostosis Syndrome
Failure of eruption of permanent teeth, Cleft palate, Enamel hypoplasia OMIM:272460
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Carious teeth, Natal tooth, Branchial cyst, Downturned corners of mouth, Ankylogloss... OMIM:620186
Restrictive Dermopathy 1
Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Narrow mouth, Submucous cleft hard ... OMIM:275210
Adnp Syndrome
Thin upper lip vermilion, Smooth philtrum, Advanced eruption of teeth, Thick lower lip vermilion ORPHA:404448
Shwachman-Diamond Syndrome
Carious teeth, Delayed eruption of teeth, Oral ulcer, Sinusitis, Steatorrhea, Fat malabsorption ORPHA:811
Schinzel-Giedion Syndrome
Macroglossia, Retrognathia, Delayed eruption of teeth, Anteriorly placed anus, Micrognathia, Shor... ORPHA:798
Coffin-Siris Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Thin upper lip vermilion, Broad philtrum, W... ORPHA:1465
Scalp-Ear-Nipple Syndrome
Abnormality of the dentition, Delayed eruption of teeth ORPHA:2036
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Calvarial osteosclerosis ORPHA:93325
Cockayne Syndrome B
Carious teeth, Dental malocclusion, Death in childhood, Delayed eruption of primary teeth, Hypopl... OMIM:133540
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Carious teeth, Periodontitis, Oral ulcer, Enterocolitis, Gin... ORPHA:79259
Meckel Syndrome, Type 1
Natal tooth, Cleft upper lip, Intestinal malrotation, Micrognathia, Thin upper lip vermilion, Smo... OMIM:249000
Coffin-Siris Syndrome 1
Conical tooth, Retrognathia, Long philtrum, Thick lower lip vermilion, Delayed eruption of teeth,... OMIM:135900
Intellectual Developmental Disorder, Autosomal Dominant 54
Widely spaced teeth, Dental crowding, Delayed eruption of primary teeth OMIM:617799
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Retrognathia, Delayed eruption of teeth, Impacted tooth, Ankyloglossia, Persiste... ORPHA:740
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Colonic diverticula, Persistence of primary teeth, Esophageal furrows, Eosinophilic infiltration ... OMIM:147060
Cockayne Syndrome A
Carious teeth, Dental malocclusion, Delayed eruption of primary teeth, Enamel hypoplasia, Hypopla... OMIM:216400
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79444
Osteogenesis Imperfecta
Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela... ORPHA:666
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Natal tooth, Dental crowding, Dental malocclusion, Intestinal malrotation, Hypodon... ORPHA:353281
Autosomal Recessive Hypophosphatemic Rickets
Tooth abscess, Delayed eruption of teeth ORPHA:289176
Wrinkly Skin Syndrome
Carious teeth, Microretrognathia, Delayed eruption of teeth, Long philtrum, Microdontia, Smooth p... OMIM:278250
Cornelia De Lange Syndrome
Downturned corners of mouth, Long philtrum, Widely spaced teeth, Delayed eruption of teeth, Intes... ORPHA:199
Wrinkly Skin Syndrome
Carious teeth, Delayed eruption of teeth, Long philtrum, Smooth philtrum, Small, conical teeth, H... ORPHA:2834
Focal Dermal Hypoplasia
Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Anteriorly placed anus, Intestin... OMIM:305600
Wiedemann-Rautenstrauch Syndrome
Hypoplastic facial bones, Natal tooth, Downturned corners of mouth, Long philtrum, Delayed erupti... OMIM:264090
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, A... OMIM:619503
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79443
Charge Syndrome
Hypoplasia of the zygomatic bone, Cleft upper lip, Delayed eruption of teeth, Narrow mouth, Trach... ORPHA:138
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Delayed eruption of teeth, Long philtrum, Widely spaced teeth, Microdontia, High palate OMIM:143095
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Intestinal malro... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Intestinal malro... ORPHA:353277
Cockayne Syndrome
Carious teeth, Dental malocclusion, Agenesis of permanent teeth, Abnormal dental morphology, Dela... ORPHA:191
Camurati-Engelmann Disease
Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth ORPHA:1328
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Hardikar Syndrome
Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Unilateral cleft palate, Gastr... OMIM:301068
Autosomal Recessive Malignant Osteopetrosis
Premature loss of primary teeth, Delayed eruption of teeth ORPHA:667
Mowat-Wilson Syndrome
Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of teeth, Widely spaced... OMIM:235730
Restrictive Dermopathy
Microcolon, Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Narrow mouth, Submucous... ORPHA:1662
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Thin up... OMIM:182250
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Carious teeth, Persistence of primary teeth, Oligodontia, Microdontia,... ORPHA:2044
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Sponastrime Dysplasia
Mandibular prognathia, Microdontia, Hypoplasia of the dental root, Hypoplasia of the nasal bone, ... ORPHA:93357
Wiedemann-Rautenstrauch Syndrome
Abnormality of the dentition, Natal tooth, Downturned corners of mouth, Retrognathia, Narrow mout... ORPHA:3455
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Xerostomia, Microdontia, Delayed eruption of primary teeth, Absence of Stensen duc... OMIM:149730
Pallister-Killian Syndrome
Bifid uvula, Anal stenosis, Delayed eruption of teeth, Long philtrum, Anteriorly placed anus, Int... OMIM:601803
Mowat-Wilson Syndrome
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:261537
Viss Syndrome
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina... OMIM:619472
Pallister-Hall Syndrome
Bifid uvula, Cleft lip, Microretrognathia, Natal tooth, Microglossia, Anal atresia, Cleft palate,... ORPHA:672
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid uvula, Abnormal jaw morphology, Tooth malposition, Dental crowding, Submucous cleft of soft... ORPHA:261552
Genitopatellar Syndrome
Anal stenosis, Malrotation of small bowel, Delayed eruption of teeth, Anteriorly placed anus, Mic... OMIM:606170
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Williams Syndrome
Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Abnormal gastric mucosa morphology, T... ORPHA:904
Sotos Syndrome
Abnormality of the dentition, Agenesis of permanent teeth, Aganglionic megacolon, Hypodontia, Del... ORPHA:821

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 Barx1

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 Barx1.

No publications found that use IMPC mice or data for Barx1.

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
Barx1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Barx1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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