Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
keratin 6B
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 Krt6b 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 Krt6b by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Krt6b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Odontoma-Dysphagia Syndrome
Odontoma, Dysphagia, Abnormal esophagus morphology OMIM:164330
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Carcinoma Of Esophagus
Dysphagia, Esophageal neoplasm, Gastroesophageal reflux, Weight loss, Abnormal intestine morpholo... ORPHA:70482
Eosinophilic Esophagitis
Esophageal stenosis, Spontaneous esophageal perforation, Dysphagia, Gastroesophageal reflux, Abno... ORPHA:73247
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Hartnup Disorder
Glossitis, Short stature OMIM:234500
Plummer-Vinson Syndrome
Glossitis, Narrow mouth, Dysphagia, Intra-oral hyperpigmentation, Cheilitis, Geophagia, Esophagea... ORPHA:54028
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Palmoplantar keratoderma, Gastrointestinal hemorrhage, Dysphagia, Esophageal neoplasm, Gastroesop... ORPHA:2198
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Catel-Manzke Syndrome
Cleft palate, Glossoptosis, Failure to thrive, Oral synechia, Short stature ORPHA:1388
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Velopharyngeal insufficiency OMIM:617732
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Esophageal stenosis, Dysphagia... ORPHA:411696
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Intrauterine growth retardation, Microdontia, Widely spaced teeth, Postnatal growth retardation OMIM:233810
Tylosis With Esophageal Cancer
Esophageal carcinoma, Abnormality of the mouth, Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Visceral Myopathy 2
Megaduodenum, Esophagitis, Hiatus hernia, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Tongue atrophy ORPHA:496689
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Lipoid Proteinosis
Tongue nodules, Hyperkeratosis, Dysphagia, Microglossia, Abnormal oral mucosa morphology, Abnorma... ORPHA:530
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Glossoptosis, Mandibular... OMIM:614669
Burning Mouth Syndrome
Tongue pain, Parageusia, Xerostomia, Abnormality of the gingiva, Abnormality of taste sensation, ... ORPHA:353253
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Enamel hypoplasia, Narrow mouth, Spontaneous esophageal perforation, Dysphagia, Growth delay, Abn... OMIM:226600
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft lip OMIM:174300
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Truncal obesity, Short stature ORPHA:2928
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Drooling, Dysphagia, Growth delay, Gastroesophageal reflux, Smooth philtrum, Postn... ORPHA:576283
Adducted Thumbs Syndrome
Dysphagia, Cleft palate, High palate, High, narrow palate, Velopharyngeal insufficiency OMIM:201550
Chromosome 4Q21 Deletion Syndrome
Short philtrum, Downturned corners of mouth, Postnatal growth retardation OMIM:613509
Mental Retardation, X-Linked, Syndromic 12
Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Postnatal growth retardation OMIM:309545
Poirier-Bienvenu Neurodevelopmental Syndrome
Protruding tongue, Downturned corners of mouth, Smooth philtrum, Open mouth OMIM:618732
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Ankyloglossia, Carious teeth, Esophageal stenosis, Narrow mouth, Dysphagia, Growth delay, Gastroe... ORPHA:89842
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Everted lower lip vermilion, Thick vermilion border, Furrowed tongue, Gingival overgrowth, Oral s... ORPHA:966
Noonan Syndrome 7
Dysphagia, Growth delay, Abnormal esophagus morphology, Thick vermilion border, Short stature, Im... OMIM:613706
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Glossoptosis, Cleft palate ORPHA:166100
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Microglossia, Small for gestational age, Narrow mouth OMIM:227270
Dyskeratosis Congenita, Autosomal Recessive 5
Intrauterine growth retardation, Esophageal stenosis, Postnatal growth retardation, Colitis OMIM:615190
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Furrowed tongue, Gingival overgrowth, Anorectal anomaly, Tracheoesophageal fistula ORPHA:1839
Coffin-Siris Syndrome 11
Downturned corners of mouth, Wide mouth, Esophageal atresia, Bifid uvula, High palate, Cleft soft... OMIM:618779
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Oral-pharyngeal dysphagia ORPHA:99772
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Seckel Syndrome 2
Growth delay, Microglossia, Small for gestational age, Short stature, Microdontia OMIM:606744
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Intrauterine growth retardation, Growth delay, Esophageal varix, Gastrointestinal hemorrhage OMIM:617341
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short philtrum, Narrow mouth, Postnatal growth retardation, Truncal obesity, Bifid uvula, Small f... ORPHA:96184
Facioscapulohumeral Muscular Dystrophy 1
Dysphagia, Tongue atrophy OMIM:158900
Cirrhosis, Familial
Esophageal varix OMIM:215600
Barrett Esophagus
Esophageal carcinoma, Esophageal ulceration, Gastroesophageal reflux, Barrett esophagus OMIM:614266
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Cleft Lip/Palate
Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Oral cleft, Peg-shaped maxillary lateral ... ORPHA:199306
Dyskeratosis Congenita, Autosomal Dominant 6
Intrauterine growth retardation, Oral leukoplakia, Abnormality of the dentition, Esophageal stenosis OMIM:616553
Wolman Disease
Growth delay, Steatorrhea, Cachexia, Esophageal varix ORPHA:75233
Atypical Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Tongue atrophy ORPHA:216873
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Cachexia, Intestinal polyposis, Hama... ORPHA:2930
Cryptosporidiosis
Gastrointestinal obstruction, Dysphagia, Growth delay, Abnormal esophagus morphology, Weight loss... ORPHA:1549
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Agan... ORPHA:2919
Orofaciodigital Syndrome Vi
Tongue nodules, Failure to thrive, Cleft palate, Short stature, High palate, Cleft upper lip, Acc... OMIM:277170
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Temple Syndrome
Polyphagia, Postnatal growth retardation, Small for gestational age, Short stature, Bifid uvula, ... ORPHA:254516
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Tooth malposition, Everted lower lip vermilion, Furrowed tongue, Short stature, H... ORPHA:1387
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia OMIM:241310
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Hypodontia, Glossoptosis, Short stature, High, narrow palate, Submucous cleft hard palate ORPHA:3201
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc... OMIM:602483
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Short stature, Exaggerated median tongue furrow, Thick low... OMIM:300431
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Failure to thrive, Cleft palate OMIM:618356
Carey-Fineman-Ziter Syndrome
Pierre-Robin sequence, Dysphagia, Growth delay, Gastroesophageal reflux, Microglossia, Glossoptos... OMIM:254940
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Morphological abnormality of the gastrointestinal tract, Dysphagia, Esophage... ORPHA:1018
Pachyonychia Congenita 3
Oral leukoplakia, Chapped lip, Palmoplantar keratoderma, Hyperkeratosis, Palmar hyperkeratosis, F... OMIM:615726
Whistling Face Syndrome, Recessive Form
Long philtrum, Narrow mouth, Microglossia, High palate, Whistling appearance OMIM:277720
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux OMIM:109350
Fanconi Anemia, Complementation Group Q
Growth delay, Esophageal atresia, Short stature OMIM:615272
Non-Syndromic Posterior Hypospadias
Anal atresia, Small for gestational age, Esophageal atresia, Cleft palate ORPHA:95706
Dyskeratosis Congenita, Autosomal Dominant 2
Abnormality of the dentition, Esophageal stricture, Failure to thrive, Short stature, Palmoplanta... OMIM:613989
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Protruding tongue, Bifid uvula, Failure to thrive, Cleft palate, Intrauterine growt... OMIM:612938
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio... OMIM:300602
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Inflammation of the large intestine, Hyperkeratosis, Growth delay, Esophageal ... OMIM:614576
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Weight loss ORPHA:2221
Hypoglossia With Situs Inversus
High palate, Microglossia, Narrow mouth, Hypodontia OMIM:612776
Angelman Syndrome Due To A Point Mutation
Drooling, Dysphagia, Wide mouth, Abnormal eating behavior, Protruding tongue, Widely spaced teeth... ORPHA:411511
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Protruding tongue, Failure to thrive, Short stature, Malabsorption OMIM:242860
Cholesteryl Ester Storage Disease
Esophageal varix ORPHA:75234
Deafness-Craniofacial Syndrome
Short philtrum, Abnormal palate morphology, Abnormality of the dentition, Short lingual frenulum,... ORPHA:3241
Bronchogenic Cyst
Abnormal stomach morphology, Dysphagia, Abnormal esophagus morphology ORPHA:2357
Catel-Manzke Syndrome
Postnatal growth retardation, Glossoptosis, Cleft upper lip, Cleft palate, Intrauterine growth re... OMIM:616145
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Carious teeth, Growth delay, Esophageal stricture, Oral mucosal bl... ORPHA:79409
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Esophageal varix, Weight loss, Malabso... ORPHA:131
Orofaciodigital Syndrome Iv
Tongue nodules, Hamartoma of tongue, Cleft palate, Lobulated tongue, Short stature, High palate, ... OMIM:258860
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Gastrointestinal dysmotility, Postnatal ... ORPHA:531151
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Gastrointestinal carcinoma, Protein-losing enteropathy, Xerostomia, Cach... OMIM:175500
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Growth delay, Tongue atrophy OMIM:614678
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Short stature, Cleft palate, Polydipsia, Tracheoesophageal fistula, Obesity ORPHA:3157
Fanconi Anemia, Complementation Group L
Esophageal atresia, Anal atresia, Cleft palate, Intrauterine growth retardation, Tracheoesophagea... OMIM:614083
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Smooth philtrum OMIM:614526
Tetraamelia Syndrome 2
Ankyloglossia, Glossoptosis, Bilateral cleft lip OMIM:618021
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Glycogen Storage Disease Iv
Esophageal varix, Failure to thrive OMIM:232500
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Mandibular condyle aplasia, Hamart... ORPHA:137888
Acrodermatitis Enteropathica
Abnormality of the tongue, Glossitis, Weight loss, Cheilitis, Furrowed tongue, Failure to thrive,... ORPHA:37
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Growth delay, Hypodontia, Microglossia, Short stature, Intrau... OMIM:253250
Methimazole Embryofetopathy
Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Kindler Syndrome
Oral leukoplakia, Carious teeth, Esophageal stenosis, Anal stenosis, Dysphagia, Periodontitis, Gi... OMIM:173650
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Microglossia, Narrow mouth ORPHA:1972
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Open mouth, Everted lower lip vermilion, Diastema, Wide mouth, Postnatal g... OMIM:212066
Down Syndrome
Macroglossia, Narrow palate, Narrow mouth, Downturned corners of mouth, Open mouth, Aganglionic m... ORPHA:870
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Narrow mouth, Dysphagia, Abnormality of the sma... ORPHA:90291
Agnathia-Otocephaly Complex
Microglossia, Narrow mouth, Aglossia, Cleft palate OMIM:202650
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Diastema, Smooth philtrum, Thin upper lip vermilion, Furrowed tongue, Short stature, High palate,... OMIM:300534
Psoriasis 14, Pustular
Geographic tongue, Furrowed tongue, Parakeratosis OMIM:614204
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Lelis Syndrome
Carious teeth, Abnormality of the mouth, Hypodontia, Furrowed tongue, Palmoplantar hyperkeratosis ORPHA:140936
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Mcdonough Syndrome
Furrowed tongue, Dental malocclusion, Short philtrum, Short stature OMIM:248950
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Ectodermal Dysplasia-Skin Fragility Syndrome
Carious teeth, Abnormal tongue morphology, Chapped lip, Palmoplantar keratoderma, Abnormality of ... ORPHA:158668
Hartnup Disease
Gingivitis, Malabsorption, Glossitis, Short stature ORPHA:2116
X-Linked Agammaglobulinemia
Weight loss, Glossoptosis, Failure to thrive, Short stature, Malabsorption ORPHA:47
Carey-Fineman-Ziter Syndrome
Long philtrum, Thin vermilion border, Pierre-Robin sequence, Growth delay, Aplasia/Hypoplasia of ... ORPHA:1358
Spinocerebellar Ataxia 36
Dysphagia, Tongue fasciculations, Tongue atrophy OMIM:614153
Pallister-Hall-Like Syndrome
Microglossia, Median cleft lip, Cleft palate OMIM:241800
Icf Syndrome
Protruding tongue, Macroglossia, Malabsorption, Short stature ORPHA:2268
Tarp Syndrome
Tongue nodules, Glossoptosis, Failure to thrive, Cleft palate, Intrauterine growth retardation, H... OMIM:311900
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Duodenal atresia, Short stature, Tracheoesophageal fistula, Submucous cleft h... OMIM:619227
Benign Schwannoma
Abnormal parotid gland morphology, Abnormal esophagus morphology, Intestinal polyposis ORPHA:252164
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Protruding tongue, Dysphagia, Widely spaced teeth, Wide mouth ORPHA:98795
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Growth delay, Stomatitis, Failure to thrive, Cleft palate, Intrauterine growth retarda... ORPHA:79284
Holzgreve Syndrome
Intrauterine growth retardation, Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Feingold Syndrome
Oral cleft, Duodenal atresia, Esophageal atresia, Short stature ORPHA:1305
Developmental And Epileptic Encephalopathy 80
Long philtrum, Growth delay, Wide mouth, Smooth philtrum, Tented upper lip vermilion, Protruding ... OMIM:618580
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Drooling, Dysphagia, Wide mouth, Abnormal eating behavior, Protruding tongue, Widely spaced teeth... ORPHA:98794
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Carious teeth, Abnormal dental enamel morpholog... ORPHA:2908
Down Syndrome
Macroglossia, Aganglionic megacolon, Protruding tongue, Anal atresia, Short stature, Duodenal ste... OMIM:190685
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Glossoptosis, Cl... OMIM:616367
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Neoplasm of the rectum, Gastrointestinal inf... ORPHA:2869
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Abnormality of the mouth, Aplasia/Hypoplasia of the tongue, Abnormality ... ORPHA:2759
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Esophagitis, Gastroesophageal reflux, Wide mouth, Postnatal growth retardation ORPHA:79350
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, Microglossia, Short stature, Cleft palate, High palate, Microdontia ORPHA:1307
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Glossoptosis, Cleft palate ORPHA:440354
Adams-Oliver Syndrome 6
Esophageal varix OMIM:616589
Mohr Syndrome
Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Cleft palate, Bifid tongue,... OMIM:252100
Rhombencephalosynapsis
Narrow mouth, Aganglionic megacolon, Esophageal atresia, Anal atresia, Tracheoesophageal fistula ORPHA:59315
Spinocerebellar Ataxia Type 36
Dysphagia, Tongue fasciculations, Tongue atrophy ORPHA:276198
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Palmoplantar keratosis with erythema and scale, Esophageal stricture ORPHA:158673
Mandibuloacral Dysplasia
Abnormal tongue morphology, Hypoplasia of teeth, Dental crowding, Postnatal growth retardation, H... ORPHA:2457
Trisomy 8Q
Everted lower lip vermilion, Non-midline cleft lip, Oral cleft, Bifid tongue, Cleft palate, Abnor... ORPHA:1752
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue, Gastroesophageal reflux, Drooling OMIM:614325
Hereditary Folate Malabsorption
Gastroesophageal reflux, Glossitis, Cheilitis, Failure to thrive ORPHA:90045
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Protruding tongue, Failure to thrive, Short stature, Gingival overgrowth OMIM:619179
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Long philtrum, Macroglossia, Dental crowding, Protruding tongue, Short stature, High palate, Obesity OMIM:141750
Aspergillosis
Abnormal esophagus morphology ORPHA:1163
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neoplasm of the gastrointestinal tract, Gastrointestinal hemorrhag... ORPHA:44890
Melkersson-Rosenthal Syndrome
Furrowed tongue, Macroglossia, Cheilitis ORPHA:2483
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Growth delay, Esophageal varix, Delayed puberty, Increased body weight, F... ORPHA:264580
Ritscher-Schinzel Syndrome 2
Short philtrum, Protruding tongue, Growth delay OMIM:300963
Cowden Syndrome 5
Narrow mouth, Furrowed tongue, Colonic diverticula, High palate, Hamartomatous polyposis, Palmopl... OMIM:615108
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Abnormality of canine, Pierre-Robin sequence, Everted l... ORPHA:364577
Progeroid Short Stature With Pigmented Nevi
Hypodontia, Irregular dentition, Delayed puberty, Small for gestational age, Short stature, Esoph... OMIM:176690
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Gastroesophageal reflux, Narrow palate, Dental crowding ORPHA:313892
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Growth delay, Hepatocellular carcinoma, Esophageal varix, Delayed puberty... ORPHA:370
Arthrogryposis, Distal, Type 5D
Furrowed tongue, Short stature, Cleft palate OMIM:615065
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Glossitis, Stomatitis, Thin upper lip vermilion, Failure to thrive, High palate OMIM:277380
Wilson Disease
Dysphagia, Hepatocellular carcinoma, Drooling, Esophageal varix OMIM:277900
Dyskeratosis Congenita
Oral leukoplakia, Carious teeth, Esophageal stenosis, Anorectal anomaly, Palmoplantar keratoderma... ORPHA:1775
Odontoonychodermal Dysplasia
Agenesis of permanent teeth, Abnormality of primary teeth, Hypodontia, Plantar hyperkeratosis, Sm... OMIM:257980
Lysosomal Acid Lipase Deficiency
Esophageal varix, Steatorrhea, Failure to thrive OMIM:278000
Coach Syndrome 1
Growth delay, Wide mouth, Esophageal varix OMIM:216360
Cohen Syndrome
Short philtrum, Open mouth, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Failu... ORPHA:193
Kleefstra Syndrome 1
Macroglossia, Everted lower lip vermilion, Natal tooth, Gastroesophageal reflux, Persistence of p... OMIM:610253
Marshall-Smith Syndrome
Gingival overgrowth, Protruding tongue, Failure to thrive, Open mouth ORPHA:561
Angelman Syndrome
Macroglossia, Drooling, Wide mouth, Protruding tongue, Widely spaced teeth, Obesity OMIM:105830
Hypoglossia-Hypodactylia
Microglossia, Narrow mouth, Aglossia OMIM:103300
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Enamel hypoplasia, Congenital pyloric atresia, Esophageal atresia OMIM:226730
Mandibulofacial Dysostosis, Guion-Almeida Type
Deep philtrum, Esophageal atresia, Short stature, Cleft palate OMIM:610536
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Growth delay, Gastroesophageal reflux, Smooth philtrum, Thick vermilion border, Pro... OMIM:608779
X-Linked Dystonia-Parkinsonism
Protruding tongue, Impaired oropharyngeal swallow response ORPHA:53351
Cowden Syndrome 6
Narrow mouth, Furrowed tongue, Colonic diverticula, High palate, Hamartomatous polyposis, Palmopl... OMIM:615109
Orofaciodigital Syndrome Type 3
Hamartoma of tongue, Abnormality of the dentition, Irregular dentition, Lobulated tongue, Bifid u... ORPHA:2752
Ramos-Arroyo Syndrome
Long philtrum, Carious teeth, Narrow mouth, Aganglionic megacolon, Decreased body weight, Severe ... ORPHA:1051
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Esophageal varix OMIM:263200
Brown-Vialetto-Van Laere Syndrome 1
Dysphagia, Tongue fasciculations, Tongue atrophy OMIM:211530
Caroli Disease, Isolated
Esophageal varix OMIM:600643
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Perineal fistula, Growth delay, Gastroesophageal reflux, Intestinal m... ORPHA:2538
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Esophageal varix, Failure to thrive ORPHA:367
Hypoglossia-Hypodactyly Syndrome
Narrow mouth, Aplasia/Hypoplasia of the tongue, Jejunal atresia, Hypodontia, Anal atresia, Cleft ... ORPHA:989
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hamartoma of tongue, Esophageal diverticulum, Neonatal death, Anal atresia, Cleft li... OMIM:617925
Fanconi Anemia, Complementation Group B
Growth delay, Esophageal atresia, Duodenal atresia, Intrauterine growth retardation, Tracheoesoph... OMIM:300514
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Tongue nodules, Growth delay, Hamartoma of tongue, Cleft p... ORPHA:2754
Rabson-Mendenhall Syndrome
Macroglossia, Advanced eruption of teeth, Dental crowding, Abnormality of the dentition, Furrowed... ORPHA:769
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Esophageal varix, Failure to thrive ORPHA:974
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Ankyloglossia, Carious teeth, Gastrointestinal inflammation, Narrow mouth, Dysphagia, Growth dela... ORPHA:79408
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Tracheoesophageal fistula, Esophageal atresia ORPHA:77298
Distal Monosomy 12Q
Long philtrum, Growth delay, Esophageal atresia, Failure to thrive in infancy, Smooth philtrum, D... ORPHA:96149
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Natal tooth, Wide mouth, Protruding tongue, Neonatal death, Shor... OMIM:259775
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Downturned corners of mouth, Growth delay, Everted lower lip vermilion, Protruding ... ORPHA:96147
Trisomy 18
Narrow palate, Narrow mouth, Growth delay, Esophageal atresia, Non-midline cleft lip, Anal atresi... ORPHA:3380
Ring Chromosome 22 Syndrome
Protruding tongue, Growth delay, Thick vermilion border ORPHA:1446
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Oligodontia, Macroglossia, Downturned corners of mouth, Open mouth, Abnormality of the gastrointe... ORPHA:453499
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Stevens-Johnson Syndrome
Acantholysis, Gastrointestinal hemorrhage, Dysphagia, Excessive salivation, Esophageal stricture,... ORPHA:36426
Mirage Syndrome
Gastroesophageal reflux, Achalasia, Decreased body weight, Esophageal stricture, Short stature, I... OMIM:617053
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Disproportionate short stature, Glossoptosis, Cleft palate ORPHA:1427
Cartilage-Hair Hypoplasia
Absent pubertal growth spurt, Aganglionic megacolon, Esophageal atresia, Malabsorption, Neonatal ... OMIM:250250
Moebius Syndrome
Open mouth, Dysphagia, Everted lower lip vermilion, Aplasia/Hypoplasia of the tongue, Tooth agene... ORPHA:570
Acro-Renal-Mandibular Syndrome
Short philtrum, Aplasia/Hypoplasia of the tongue, Oral cleft, Intrauterine growth retardation, Hi... ORPHA:958
Angelman Syndrome
Polyphagia, Drooling, Dysphagia, Delayed menarche, Gastroesophageal reflux, Abnormality of the ga... ORPHA:72
Cerebrocostomandibular Syndrome
Long philtrum, Anal stenosis, Gastroesophageal reflux, Abnormality of the dentition, Postnatal gr... OMIM:117650
Juvenile Sialidosis Type 2
Protruding tongue, Dysphagia, Gingival overgrowth ORPHA:93399
Myopathy, Myofibrillar, 7
Dysphagia, Tongue atrophy OMIM:617114
Kid Syndrome
Abnormality of the tongue, Oral leukoplakia, Carious teeth, Generalized hyperkeratosis, Delayed e... ORPHA:477
Gracile Bone Dysplasia
Ankyloglossia, Failure to thrive, Short stature OMIM:602361
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Growth delay, Gastroesophageal reflux, Postnatal growth retardation, Protruding ton... OMIM:301040
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Intestinal malrotation, Anal atresia, Bifid tongue, Short stature, Cleft pal... OMIM:613091
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Tongue nodules, Cleft palate, Bifi... OMIM:311200
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Esophageal atresia, Ectopic anus, Cleft palate, Bifid u... ORPHA:87
Hereditary Angioedema Type 1
Intestinal edema, Abnormal soft palate morphology, Dysphagia, Abnormality of salivation, Abnormal... ORPHA:100050
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Esophageal atresia, Ectopic anus, Cleft palate, Bifid u... OMIM:101200
Hereditary Acrokeratotic Poikiloderma
Open bite, Oral leukoplakia, Ankyloglossia, Narrow mouth, Abnormality of the gastrointestinal tra... ORPHA:2907
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Narrow palate, Recurrent gastroenteritis, Deep philtrum, Long upper lip, Pr... ORPHA:99843
Cowden Syndrome 1
Narrow mouth, Furrowed tongue, Colonic diverticula, High palate, Hamartomatous polyposis, Palmopl... OMIM:158350
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Abnormality of dental morphology, Wid... ORPHA:861
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Short stature ORPHA:2031
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Abnormali... ORPHA:1452
Immunodeficiency 23
Esophageal stricture, High palate, Failure to thrive OMIM:615816
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Protruding tongue, Wide mouth, Gingival overgrowth OMIM:618797
Robinow Syndrome, Autosomal Dominant 3
Long philtrum, Agenesis of permanent teeth, Downturned corners of mouth, Triangular mouth, Bifid ... OMIM:616894
Dyskeratosis Congenita, Autosomal Recessive 1
Oral leukoplakia, Carious teeth, Microdontia, Esophageal stricture OMIM:224230
Isolated Cleft Lip
Non-midline cleft lip, Hypodontia, Supernumerary maxillary incisor, Small for gestational age, Ve... ORPHA:199302
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Natal tooth, Anal atresia, Bifid tongue, Cleft lip, Lobulated tongue, Cleft palate OMIM:616300
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Everted lower lip vermilion, Smooth philtrum ORPHA:324410
Chronic Graft Versus Host Disease
Dysphagia, Gastroesophageal reflux, Abnormal esophagus morphology, Weight loss, Esophageal strict... ORPHA:99921
Microphthalmia, Syndromic 3
Esophageal atresia, Short stature, Postnatal growth retardation OMIM:206900
Fryns Syndrome
Meckel diverticulum, Long philtrum, Stillbirth, Intestinal malrotation, Esophageal atresia, Wide ... OMIM:229850
Maternal Phenylketonuria
Intrauterine growth retardation, High palate, Long philtrum, Esophageal atresia ORPHA:2209
Tarp Syndrome
Abnormal duodenum morphology, Tongue nodules, Pierre-Robin sequence, Glossoptosis, Failure to thr... ORPHA:2886
Classic Homocystinuria
High palate, Gastrointestinal hemorrhage, Esophageal varix, Dental crowding ORPHA:394
Feingold Syndrome 1
Everted lower lip vermilion, Esophageal atresia, Thick vermilion border, Duodenal atresia, High p... OMIM:164280
Caroli Disease
Esophageal varix, Cholangiocarcinoma, Weight loss ORPHA:53035
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Dysphagia, Gastroesophageal reflux, Decreased body weight, Protruding t... ORPHA:258
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Hyperkeratosis, Oral leukoplakia, Furrowed tongue OMIM:148210
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Palmoplantar keratoderma, Growth delay, Oral mucosal blisters, Failure to thri... ORPHA:79396
Cowden Syndrome
Macroglossia, Generalized hyperkeratosis, Palmoplantar keratoderma, Furrowed tongue, Colorectal p... ORPHA:201
Marshall-Smith Syndrome
Short philtrum, Short mandibular rami, Decreased body weight, Irregular dentition, Glossoptosis, ... OMIM:602535
Stuve-Wiedemann Syndrome
Pursed lips, Abnormal dental enamel morphology, Dysphagia, Short stature, Smooth tongue OMIM:601559
Pelvis-Shoulder Dysplasia
Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Microglossia, Short sta... ORPHA:2839
Robinow Syndrome
Long philtrum, Ankyloglossia, Tooth malposition, Dental crowding, Marked delay in eruption of per... ORPHA:97360
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Macroglossia, Open mouth, Downturned corners of mouth, Growth delay, High, narrow pala... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Macroglossia, Open mouth, Downturned corners of mouth, Growth delay, High, narrow pala... ORPHA:352665
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Narrow mouth ORPHA:990
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Glossoptosis, Cleft palate ORPHA:436003
Orofaciodigital Syndrome Type 1
Open bite, Abnormal dental enamel morphology, Accessory oral frenulum, Tongue nodules, Odontogeni... ORPHA:2750
Cerebrocostomandibular Syndrome
Cleft palate, Glossoptosis, Short stature, Short hard palate, Intrauterine growth retardation ORPHA:1393
Otopalatodigital Syndrome Type 2
Oligodontia, Narrow mouth, Pierre-Robin sequence, Anodontia, Glossoptosis, Failure to thrive, Cle... ORPHA:90652
Feingold Syndrome Type 1
Gastrointestinal atresia, Jejunal atresia, Esophageal atresia, Duodenal atresia, Anal atresia, Sh... ORPHA:391641
Chand Syndrome
Commissural lip pit, Agenesis of permanent teeth, Agenesis of maxillary incisor, Bifid tongue, Cl... ORPHA:1401
Autosomal Dominant Cerebellar Ataxia
Hyperkeratosis, Tongue fasciculations, Pseudobulbar paralysis, Tongue atrophy ORPHA:99
Adams-Oliver Syndrome 5
Esophageal varix OMIM:616028
Spondyloepiphyseal Dysplasia Congenita
Growth delay, Glossoptosis, Disproportionate short-trunk short stature, Cleft palate ORPHA:94068
Autosomal Recessive Robinow Syndrome
Open bite, Long philtrum, Ankyloglossia, Short philtrum, Downturned corners of mouth, Abnormal pa... ORPHA:1507
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Cleft palate ORPHA:1790
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, Protruding tongue, Failure to thrive, High palate, High, narrow palate OMIM:214100
Distal Monosomy 15Q
Short philtrum, Growth delay, Abnormality of the dentition, Postnatal growth retardation, Thin up... ORPHA:1596
Kinsship Syndrome
Ankyloglossia, Short philtrum, Downturned corners of mouth, Gastroesophageal reflux, Wide mouth, ... OMIM:619297
Robinow Syndrome, Autosomal Recessive 1
Long philtrum, Macroglossia, Absent uvula, Dental crowding, Thin upper lip vermilion, Triangular ... OMIM:268310
Robinow Syndrome, Autosomal Dominant 1
Long philtrum, Macroglossia, Delayed eruption of teeth, Narrow palate, Downturned corners of mout... OMIM:180700
Giant Cell Arteritis
Gastrointestinal infarctions, Impaired mastication, Glossitis, Weight loss ORPHA:397
Hallermann-Streiff Syndrome
Abnormality of the tongue, Narrow mouth, Proportionate short stature, Natal tooth, Abnormality of... ORPHA:2108
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Growth delay, Esophageal varix, Protein-losing enteropathy, Cholangi... ORPHA:731
Cousin Syndrome
Disproportionate short stature, Rhizomelia, Microglossia, Cleft palate, Alveolar ridge overgrowth OMIM:260660
Vacterl With Hydrocephalus
Intrauterine growth retardation, Tracheoesophageal fistula, Anal atresia, Esophageal atresia ORPHA:3412
Lysosomal Acid Lipase Deficiency
Esophageal varix, Steatorrhea, Weight loss, Cachexia, Failure to thrive ORPHA:275761
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Natal tooth, Hamartoma of tongue, Intestinal malrotation, Neonatal d... OMIM:269860
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Microglossia, Failure to thrive, Short stature, Intrauterine growth... OMIM:151050
Opitz Gbbb Syndrome
Long philtrum, Ankyloglossia, Dysphagia, Natal tooth, Hypodontia, Ectopic anus, Anal atresia, Cle... ORPHA:2745
Congenital Sialidosis Type 2
Protruding tongue, Gingival overgrowth ORPHA:93400
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Furrowed tongue, Cleft p... ORPHA:464738
Pachyonychia Congenita 4
Hyperkeratosis, Palmoplantar keratoderma OMIM:615728
Autosomal Dominant Robinow Syndrome
Open bite, Long philtrum, Oligodontia, Median cleft lip and palate, Short philtrum, Downturned co... ORPHA:3107
Stickler Syndrome
Slender build, Open bite, Abnormal dental enamel morphology, Long philtrum, Macroglossia, Gastroe... ORPHA:828
Joubert Syndrome 1
Protruding tongue, Triangular-shaped open mouth, Macroglossia OMIM:213300
Distal 22Q11.2 Microdeletion Syndrome
Ankyloglossia, Narrow mouth, Growth delay, Smooth philtrum, Thin upper lip vermilion, Short statu... ORPHA:261330
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Intestinal polyposis, Esophageal varix ORPHA:774
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Small for gestational age, Esophageal atresia, Short stature OMIM:227646
1Q21.1 Microdeletion Syndrome
Long philtrum, Ankyloglossia, Failure to thrive, Short stature, Intrauterine growth retardation, ... ORPHA:250989
Frontorhiny
Bifid tongue, Cleft palate ORPHA:391474
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Oral ulcer, Aphthous ulcer, Esophageal varix OMIM:615688
Pallister-Hall Syndrome
Natal tooth, Neonatal death, Microglossia, Anal atresia, Short stature, Cleft palate, Intrauterin... OMIM:146510
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Gastroesophageal reflux, Smooth philtrum, Furrowed tongue, Duodenal atresia, Cleft lip, Short sta... OMIM:616975
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Macroglossia, Drooling, Open mouth, Thick lower lip vermilion, Gastroesophageal reflux, Wide mout... OMIM:309580
Fontaine Progeroid Syndrome
Long philtrum, Oligodontia, Narrow mouth, Everted lower lip vermilion, High, narrow palate, Gastr... OMIM:612289
Pachyonychia Congenita
Oral leukoplakia, Palmoplantar keratoderma, Natal tooth, Angular cheilitis, Palmar hyperkeratosis... ORPHA:2309
Glucagonoma
Glossitis, Gastrointestinal hemorrhage, Stomatitis, Steatorrhea, Weight loss, Abnormal gastrointe... ORPHA:97280
Bilateral Perisylvian Polymicrogyria
Pseudobulbar paralysis, Drooling, Dysphagia, Gastroesophageal reflux, Protruding tongue, Intraute... ORPHA:98889
Smith-Lemli-Opitz Syndrome
Long philtrum, Abnormal dental enamel morphology, Abnormality of dental morphology, Rhizomelia, G... ORPHA:818
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Narrow mouth, Dental crowding, Thin upper lip vermilion, Short stature... OMIM:300990
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Growth delay, Esophageal varix, Delayed puberty, Cachexia ORPHA:2072
Gabriele-De Vries Syndrome
Esophageal atresia, Abnormality of the dentition, Oral-pharyngeal dysphagia, Abnormality of upper... ORPHA:506358
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glossitis, Growth delay, Smooth philtrum, Stomatitis, Failure to thrive, Intrauterine growth reta... ORPHA:79282
Blomstrand Lethal Chondrodysplasia
Long philtrum, Rhizomelia, Natal tooth, Protruding tongue, Neonatal short-limb short stature ORPHA:50945
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy ORPHA:101085
Dyskeratosis Congenita, X-Linked
Oral leukoplakia, Carious teeth, Esophageal stricture, Short stature, Anal mucosal leukoplakia, I... OMIM:305000
Caroli Syndrome
Hematemesis, Cholangiocarcinoma, Esophageal varix, Melena ORPHA:480520
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix ORPHA:309854
Agel Amyloidosis
Xerostomia, Tongue atrophy ORPHA:85448
Smith-Lemli-Opitz Syndrome
Long philtrum, Dental crowding, Growth delay, Gastroesophageal reflux, Intestinal malrotation, Ag... OMIM:270400
Vater/Vacterl Association
Esophageal atresia, Postnatal growth retardation, Anal atresia, Failure to thrive, Intrauterine g... OMIM:192350
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Gastrointestinal inflammation, Erosion of oral mucosa, Growth delay, Esophagea... ORPHA:79404
Charge Syndrome
Anal stenosis, Dysphagia, Esophageal atresia, Postnatal growth retardation, Delayed puberty, Duod... OMIM:214800
Yunis-Varon Syndrome
Thin vermilion border, Short philtrum, Abnormality of dental structure, Gingival recession, Postn... ORPHA:3472
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Aganglionic megacolon, Thick vermilion border, Neoplasm of the liver,... ORPHA:653
Orofaciodigital Syndrome Xiv
Natal tooth, Hamartoma of tongue, Aplasia of the epiglottis, Bifid tongue, Cleft lip, Lobulated t... OMIM:615948
Hepatocellular Carcinoma
Esophageal varix, Abnormal rectum morphology, Weight loss ORPHA:88673
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ankyloglossia, Downturned corners of mouth, Short stature, Cleft palate, Intrauterine growth reta... ORPHA:488642
Meckel Syndrome, Type 1
Natal tooth, Intestinal malrotation, Wide mouth, Anal atresia, Lobulated tongue, Cleft palate, In... OMIM:249000
Okamoto Syndrome
Open bite, Downturned corners of mouth, Open mouth, Anal stenosis, Gastroesophageal reflux, Intes... ORPHA:2729
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hamartoma of tongue, Intestinal malrotation, Microglossia, Cleft palate, Median cleft lip OMIM:263520
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Long philtrum, Esophageal atresia, Ectopic anus, Anal atresia, Bifid tongue, Cleft upper lip, Dis... ORPHA:93271
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Long philtrum, Macroglossia, Downturned corners of mouth, Gastroesophageal reflux, Thin upper lip... ORPHA:444077
Charcot-Marie-Tooth Disease Type 4C
Drooling, Difficulty in tongue movements, Failure to thrive, Tongue fasciculations, Tongue atrophy ORPHA:99949
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Intestinal malrotation, Esophageal atresia, Duodenal atresia, Anal atresia, ... OMIM:265380
Orofaciodigital Syndrome Type 14
Hamartoma of tongue, Aplasia of the epiglottis, Bifid tongue, Supernumerary tooth, Cleft palate, ... ORPHA:434179
Fetal Encasement Syndrome
Protruding tongue OMIM:613630
Limb-Mammary Syndrome
Submucous cleft soft palate, Hypodontia, Cleft lip, Cleft palate, Bifid uvula, Cleft hard palate ORPHA:69085
Fraser Syndrome
Anal stenosis, Dental crowding, Oral cleft, Ectopic anus, Anal atresia, Bifid tongue, Cleft upper... ORPHA:2052
Microsporidiosis
Glossitis, Cachexia, Weight loss ORPHA:2552
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Smooth tongue, Abnormality of the dentition, Short stature ORPHA:3206
Meckel Syndrome
Furrowed tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:564
Hutchinson-Gilford Progeria Syndrome
Ankyloglossia, Thin vermilion border, Delayed eruption of teeth, Impacted tooth, Narrow mouth, De... ORPHA:740
Mowat-Wilson Syndrome
Open mouth, Dental crowding, Abnormality of dental morphology, Submucous cleft of soft and hard p... ORPHA:2152
Plague
Inflammation of the large intestine, Chapped lip, Glossitis, Hematemesis, Enterocolitis ORPHA:707
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Short philtrum, Tooth malposition, Open mouth, Dental crowding, Abnorm... ORPHA:261537
Pallister-Hall Syndrome
Natal tooth, Bifid uvula, Microglossia, Anal atresia, Cleft lip, Short stature, Cleft palate, Int... ORPHA:672
Choreoacanthocytosis
Protruding tongue, Dysphagia, Weight loss ORPHA:2388
Kawasaki Disease
Glossitis, Cheilitis ORPHA:2331
Microphthalmia, Syndromic 6
Microglossia, Failure to thrive, Cleft palate, Bifid uvula, High palate OMIM:607932
Alström Syndrome
Abnormality of dental color, Polyphagia, Delayed menarche, Gastroesophageal reflux, Esophageal va... ORPHA:64
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Delayed eruption of teeth, Short philtrum, Tooth malposition, Open mouth, Dental crowding, Abnorm... ORPHA:261552
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma OMIM:615735

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 Krt6b

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 Krt6b.

No publications found that use IMPC mice or data for Krt6b.

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