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Gene: Krt6b MGI:1333768

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
keratin 6B
Synonyms:
Krt2-6b,  mK6[b]

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pachyonychia Congenita 3
Palmar hyperkeratosis, Plantar hyperkeratosis, Follicular hyperkeratosis, Gingivitis, Furrowed to... OMIM:615726
Pachyonychia Congenita
Failure to thrive, Palmar hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural are... ORPHA:2309
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Plantar hyperkeratosis, Oral leukoplakia OMIM:615735
Pachyonychia Congenita 4
Palmoplantar keratoderma OMIM:615728

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
Dysphagia, Odontoma, Abnormal esophagus morphology OMIM:164330
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Hartnup Disorder
Glossitis, Short stature OMIM:234500
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Palmoplantar keratoderma, Abnormal esophagus physio... ORPHA:2198
Plummer-Vinson Syndrome
Narrow mouth, Cheilitis, Esophageal web, Intra-oral hyperpigmentation, Glossitis, Geophagia, Tong... ORPHA:54028
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Weight loss, Cleft palate ORPHA:141152
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Velopharyngeal insufficiency OMIM:617732
Catel-Manzke Syndrome
Failure to thrive, Cleft palate, Short stature, Glossoptosis, Oral synechia ORPHA:1388
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Failure to thrive, Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux,... ORPHA:411696
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Dysphagia, Tongue fasciculations, Tongue atrophy OMIM:613435
Visceral Myopathy 2
Hiatus hernia, Gastroesophageal reflux, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Tongue atrophy ORPHA:496689
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Widely spaced teeth, Postnatal growth retardation, Microdontia, Intrauterine growth retardation OMIM:233810
Lipoid Proteinosis
High palate, Abnormal oral mucosa morphology, Tongue nodules, Hyperkeratosis, Dysphagia, Microglo... ORPHA:530
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Mandibular ... OMIM:614669
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Oral mucosal blisters, Neonatal death, Esophageal stenosis OMIM:619817
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Oral mucosal blisters, Abnormal esophagus morphology, Spontaneous esophageal perfor... OMIM:226600
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Growth delay, Gastroesophageal reflux, Cleft palate, Abnormality of the dentition, L... ORPHA:576283
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Truncal obesity, Short stature ORPHA:2928
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Narrow mouth, Decreased body weight, Gastroesophageal reflux, Abnormal esophag... ORPHA:89842
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the gastrointestinal ... ORPHA:1876
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Burning Mouth Syndrome
Parageusia, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain, Strawberry to... ORPHA:353253
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Short stature, Abnormal esophagus morphology, Large for ... OMIM:613706
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate ORPHA:166100
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Protruding tongue, Smooth philtrum, Open mouth OMIM:618732
Seckel Syndrome 2
Short stature, Small for gestational age, Microdontia, Growth delay, Microglossia OMIM:606744
Hereditary Mucoepithelial Dysplasia
Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue, Hyperkeratosis, Anorectal anomaly ORPHA:1839
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Colitis, Intrauterine growth retardation, Esophageal stenosis OMIM:615190
Coffin-Siris Syndrome 11
High palate, Wide mouth, Bifid uvula, Downturned corners of mouth, Esophageal atresia, Cleft soft... OMIM:618779
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix, Growth delay, Intrauterine growth retardation OMIM:617341
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Parakeratosis OMIM:148500
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth, Neonatal death, Small for gestational age OMIM:227270
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Postnatal growth retardation, Cleft palate, Small for gestational age,... ORPHA:96184
Dyskeratosis Congenita, Autosomal Dominant 6
Intrauterine growth retardation, Abnormality of the dentition, Oral leukoplakia, Esophageal stenosis OMIM:616553
Wolman Disease
Cachexia, Esophageal varix, Growth delay, Steatorrhea ORPHA:75233
Facioscapulohumeral Muscular Dystrophy 1
Dysphagia, Tongue atrophy OMIM:158900
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Failure to thrive, Cleft palate, Short sta... OMIM:277170
Atypical Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Tongue atrophy ORPHA:216873
Temple Syndrome
Postnatal growth retardation, Short stature, Small for gestational age, Bifid uvula, Polyphagia, ... ORPHA:254516
Cronkhite-Canada Syndrome
Malabsorption, Stomach cancer, Cachexia, Furrowed tongue, Intestinal polyposis, Colon cancer, Hyp... ORPHA:2930
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Tooth malposition, Everted lower lip vermilion, Short stature, Short philtrum, Furro... ORPHA:1387
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Tetrasomy 12P
Thick upper lip vermilion, Anal atresia, Abnormal soft palate morphology, Everted lower lip vermi... ORPHA:884
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Short stature, Glossoptosis, Submucous cleft hard palate ORPHA:3201
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Pachyonychia Congenita 3
Palmar hyperkeratosis, Plantar hyperkeratosis, Follicular hyperkeratosis, Gingivitis, Furrowed to... OMIM:615726
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Failure to thrive, Cleft palate OMIM:618356
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Short stature, Exaggerated... OMIM:300431
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Failure to thrive, Gastroesophageal reflux, Morphological abnormality of the... ORPHA:1018
Whistling Face Syndrome, Recessive Form
High palate, Narrow mouth, Long philtrum, Whistling appearance, Microglossia OMIM:277720
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Inflammation of the large intestine, Enamel hypoplasia, Hyperkeratosis, Esopha... OMIM:614576
Solar Urticaria
Abnormal tongue morphology, Abnormal lip morphology ORPHA:97230
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Anterior open-bite malocclusion, M... OMIM:602483
Barrett Esophagus
Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus OMIM:614266
Non-Syndromic Posterior Hypospadias
Anal atresia, Esophageal atresia, Cleft palate, Small for gestational age ORPHA:95706
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300602
Acquired Hypertrichosis Lanuginosa
Glossitis, Weight loss, Macroglossia ORPHA:2221
Budd-Chiari Syndrome
Malabsorption, Intestinal obstruction, Gastrointestinal hemorrhage, Esophageal varix, Gastrointes... ORPHA:131
Bronchogenic Cyst
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology ORPHA:2357
Cholesteryl Ester Storage Disease
Esophageal varix ORPHA:75234
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Short stature, Lobulated tongue, Hamartoma of... OMIM:258860
Hypoglossia With Situs Inversus
High palate, Microglossia, Narrow mouth, Hypodontia OMIM:612776
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Short philtrum, Bifid tongue, Short lingual frenulum, Abnormal pala... ORPHA:3241
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Postnatal growth retardation, Downturned corners of mouth, Gastrointe... ORPHA:531151
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Cachexia, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Gastroi... OMIM:175500
Pontocerebellar Hypoplasia, Type 1B
Growth delay, Tongue fasciculations, Tongue atrophy OMIM:614678
Septo-Optic Dysplasia Spectrum
Polydipsia, Cleft palate, Short stature, Tracheoesophageal fistula, Obesity, Esophageal atresia ORPHA:3157
Tetraamelia Syndrome 2
Glossoptosis, Bilateral cleft lip, Ankyloglossia OMIM:618021
Catel-Manzke Syndrome
High palate, Cleft upper lip, Cleft palate, Glossoptosis, Postnatal growth retardation, Intrauter... OMIM:616145
Glycogen Storage Disease Iv
Failure to thrive, Esophageal varix OMIM:232500
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Esophageal stricture, Growth delay, Gastrointestinal inflam... ORPHA:79409
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules OMIM:258850
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Smooth philtrum, Cleft soft palate OMIM:614526
Kindler Syndrome
Periodontitis, Carious teeth, Palmoplantar hyperkeratosis, Gingivitis, Anal stenosis, Esophageal ... OMIM:173650
Auriculocondylar Syndrome
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Bifid uvula, Hamartoma of tongue, ... ORPHA:137888
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Failure to thrive, Cleft palate, Thin vermilion border, Bifid uvula, P... OMIM:612938
Ectodermal Dysplasia-Skin Fragility Syndrome
Failure to thrive, Cheilitis, Anoperineal fistula, Short stature, Abnormality of the dentition, C... ORPHA:158668
Acrodermatitis Enteropathica
Failure to thrive, Abnormality of the tongue, Malabsorption, Cheilitis, Short stature, Glossitis,... ORPHA:37
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Malabsorption, Macroglossia, Short stature, Protruding tongue OMIM:242860
Fanconi Anemia, Complementation Group Q
Growth delay, Esophageal atresia, Anteriorly placed anus, Short stature OMIM:615272
Mulibrey Nanism
Dental malocclusion, Hypodontia, Short stature, Enamel hypoplasia, Dental crowding, Growth delay,... OMIM:253250
Methimazole Embryofetopathy
Tracheoesophageal fistula, Esophageal atresia, Intrauterine growth retardation ORPHA:1923
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Short stature, Abnormality of the dentition, Palmoplantar hyperkeratosis, Esop... OMIM:613989
Angelman Syndrome Due To A Point Mutation
Wide mouth, Abnormal eating behavior, Widely spaced teeth, Protruding tongue, Dysphagia, Obesity ORPHA:411511
Systemic Sclerosis
Narrow mouth, Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett ... ORPHA:90291
Psoriasis 14, Pustular
Furrowed tongue, Geographic tongue, Parakeratosis OMIM:614204
Alacrima, Achalasia, And Mental Retardation Syndrome
Short philtrum, Downturned corners of mouth, Hyperkeratosis, Esophageal stenosis, Dysphagia, Acha... OMIM:615510
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth, Intrauterine growth retardation ORPHA:1972
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue, Hamartoma of ... OMIM:174300
Mcdonough Syndrome
Dental malocclusion, Short philtrum, Short stature, Furrowed tongue OMIM:248950
Hartnup Disease
Gingivitis, Glossitis, Malabsorption, Short stature ORPHA:2116
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bifid tongue, Bilateral cleft lip and palate ORPHA:2001
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Failure to thrive, Short stature, Enamel hypoplasia, Bilateral cleft lip and palate,... OMIM:618874
X-Linked Agammaglobulinemia
Failure to thrive, Malabsorption, Short stature, Glossoptosis, Weight loss ORPHA:47
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Open mouth, Hypoplasia o... OMIM:200990
Carey-Fineman-Ziter Syndrome
High palate, Growth delay, Aplasia/Hypoplasia of the tongue, Cleft palate, Short stature, Glossop... ORPHA:1358
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Short stature, Protruding tongue, Thick vermilion borde... OMIM:618106
Spinocerebellar Ataxia 36
Dysphagia, Tongue fasciculations, Tongue atrophy OMIM:614153
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Esophageal varix OMIM:619463
Congenital Disorder Of Glycosylation, Type Iia
Wide mouth, Gingival overgrowth, Failure to thrive, Everted lower lip vermilion, Thin vermilion b... OMIM:212066
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Short stature, Tracheoesophageal fistula, Esophageal atresia, Submucous cleft h... OMIM:619227
Phosphoribosylaminoimidazole Carboxylase Deficiency
Tracheoesophageal fistula, Esophageal atresia, Neonatal death, Short stature OMIM:619859
Tarp Syndrome
High palate, Failure to thrive, Cleft palate, Glossoptosis, Tongue nodules, Intrauterine growth r... OMIM:311900
Pallister-Hall-Like Syndrome
Median cleft lip, Microglossia, Cleft palate OMIM:241800
Benign Schwannoma
Intestinal polyposis, Abnormal esophagus morphology, Abnormal parotid gland morphology ORPHA:252164
Down Syndrome
Anal atresia, Narrow mouth, Narrow palate, Macroglossia, Abnormality of the dentition, Microdonti... ORPHA:870
Holzgreve Syndrome
Bifid tongue, Intrauterine growth retardation, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Methylmalonic Acidemia With Homocystinuria Type Cblf
Failure to thrive, Cleft palate, Stomatitis, Glossitis, Growth delay, Intrauterine growth retarda... ORPHA:79284
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Adams-Oliver Syndrome 6
Esophageal varix OMIM:616589
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Everted lower lip vermilion, Glossoptosis, Dental crowding, Delayed eruption of pri... OMIM:616367
Lelis Syndrome
Furrowed tongue, Palmoplantar hyperkeratosis, Hypodontia, Carious teeth ORPHA:140936
Kindler Epidermolysis Bullosa
Cheilitis, Colitis, Periodontitis, Premature loss of primary teeth, Inflammation of the large int... ORPHA:2908
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Rhizomelia, Cleft palate ORPHA:440354
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Wide mouth, Postnatal growth retardation, Gastroesophageal reflux, Esophagitis ORPHA:79350
Mohr Syndrome
High palate, Accessory oral frenulum, Agenesis of central incisor, Cleft palate, Short stature, B... OMIM:252100
Spinocerebellar Ataxia Type 36
Dysphagia, Tongue fasciculations, Tongue atrophy ORPHA:276198
Mandibuloacral Dysplasia
High palate, Dental crowding, Postnatal growth retardation, Abnormal tongue morphology, Hypoplasi... ORPHA:2457
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Cleft palate, Short stature, Microdontia, Microglossia ORPHA:1307
Feingold Syndrome
Duodenal atresia, Short stature, Esophageal atresia, Oral cleft ORPHA:1305
Aspergillosis
Abnormal esophagus morphology ORPHA:1163
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture, Palmoplantar hyperkeratosis ORPHA:158673
Hereditary Folate Malabsorption
Failure to thrive, Glossitis, Cheilitis, Gastroesophageal reflux ORPHA:90045
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Wide mouth, Dysphagia, Protruding tongue ORPHA:98795
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Failure to thrive, Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip v... ORPHA:364577
Rhombencephalosynapsis
Anal atresia, Narrow mouth, Tracheoesophageal fistula, Esophageal atresia, Aganglionic megacolon ORPHA:59315
Trisomy 8Q
High palate, Cleft palate, Everted lower lip vermilion, Bifid tongue, Oral cleft, Abnormal oral f... ORPHA:1752
Developmental And Speech Delay Due To Sox5 Deficiency
Dental crowding, Narrow palate, Gastroesophageal reflux, Exaggerated median tongue furrow ORPHA:313892
Cowden Syndrome 5
High palate, Narrow mouth, Palmoplantar hyperkeratosis, Furrowed tongue, Colonic diverticula, Ham... OMIM:615108
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Failure to thrive, Decreased body weight, Short stature, Diastema, Furrowed tongue, ... OMIM:300534
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Enamel hypoplasia, Oral mucosal blisters, Esophageal atresia OMIM:226730
Developmental And Epileptic Encephalopathy 80
High palate, Wide mouth, Failure to thrive, Long philtrum, Protruding tongue, Tented upper lip ve... OMIM:618580
Melkersson-Rosenthal Syndrome
Cheilitis, Macroglossia, Furrowed tongue ORPHA:2483
Odontoonychodermal Dysplasia
Widely spaced primary teeth, Orthokeratosis, Hypodontia, Plantar hyperkeratosis, Agenesis of perm... OMIM:257980
Dyskeratosis Congenita
Intrauterine growth retardation, Malabsorption, Periodontitis, Taurodontia, Hypodontia, Short sta... ORPHA:1775
Coach Syndrome 1
Wide mouth, Esophageal varix, Growth delay OMIM:216360
Icf Syndrome
Malabsorption, Protruding tongue, Macroglossia, Short stature ORPHA:2268
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Short stature, Hepatocellular adenoma, Esophageal varix, Delayed... ORPHA:264580
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue ORPHA:2759
Arthrogryposis, Distal, Type 5D
Furrowed tongue, Cleft palate, Short stature OMIM:615065
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatocellular carcinoma, Hepatocellular adenoma, Esophageal varix, Delayed pu... ORPHA:370
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Esophageal varix ORPHA:367
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma ORPHA:64743
Methylmalonic Aciduria And Homocystinuria, Cblf Type
High palate, Failure to thrive, Glossitis, Stomatitis, Thin upper lip vermilion OMIM:277380
Cohen Syndrome
Gingival overgrowth, Tooth agenesis, Aplasia/Hypoplasia of the tongue, High, narrow palate, Short... ORPHA:193
Cowden Syndrome 6
High palate, Narrow mouth, Palmoplantar hyperkeratosis, Furrowed tongue, Colonic diverticula, Ham... OMIM:615109
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Abnormal eating behavior, Widely spaced teeth, Protruding tongue, Dysphagia, Obesity ORPHA:98794
Orofaciodigital Syndrome Type 3
Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, Irregular denti... ORPHA:2752
Gm1-Gangliosidosis, Type Ii
Failure to thrive, Gingival overgrowth, Narrow mouth, Protruding tongue, Dysphagia OMIM:230600
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Failure to thrive, Long upper lip, Cleft palate, Everted lower lip vermilion, Oligod... OMIM:608670
Mandibulofacial Dysostosis, Guion-Almeida Type
Deep philtrum, Esophageal atresia, Cleft palate, Short stature OMIM:610536
Microgastria-Limb Reduction Defect Syndrome
Anal atresia, Failure to thrive, Hiatus hernia, Gastroesophageal reflux, Intestinal malrotation, ... ORPHA:2538
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Macroglossia, Short stature, Long philtrum, Protruding tongue, Dental crowding, Obesity OMIM:141750
Orofaciodigital Syndrome Type 6
High palate, Failure to thrive, Cleft palate, Short stature, Lobulated tongue, Hamartoma of tongu... ORPHA:2754
Brown-Vialetto-Van Laere Syndrome 1
Dysphagia, Tongue fasciculations, Tongue atrophy OMIM:211530
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips OMIM:241310
Lysosomal Acid Lipase Deficiency
Failure to thrive, Esophageal varix, Steatorrhea OMIM:278000
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Gingival overgrowth, Short stature, Long philtrum, Protruding tongue OMIM:619179
Ramos-Arroyo Syndrome
Narrow mouth, Decreased body weight, Severe short stature, Severe failure to thrive, Xerostomia, ... ORPHA:1051
Carey-Fineman-Ziter Syndrome 1
High palate, Failure to thrive, Growth delay, Gastroesophageal reflux, Cleft palate, Glossoptosis... OMIM:254940
Caroli Disease, Isolated
Esophageal varix OMIM:600643
Gracile Bone Dysplasia
Failure to thrive, Ankyloglossia, Short stature OMIM:602361
Ritscher-Schinzel Syndrome 2
Growth delay, Short philtrum, Protruding tongue OMIM:300963
Hypoglossia-Hypodactylia
Microglossia, Narrow mouth, Aglossia OMIM:103300
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Duodenal atresia, Tracheoesophageal fistula, Growth delay, Esoph... OMIM:300514
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Esophageal varix, Neonatal death OMIM:263200
Bazex Syndrome
Furrowed tongue OMIM:301845
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Esophageal varix ORPHA:974
Agnathia-Otocephaly Complex
Aglossia, Microglossia, Narrow mouth, Cleft palate OMIM:202650
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Esophageal atresia, Growth delay ORPHA:77298
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Failure to thrive, Gastroesophageal reflux, Cleft palate, Macroglossia, Oligodontia,... ORPHA:453499
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Persistence of primary teeth, Gastroesophageal reflux, Macroglossia... OMIM:610253
Trisomy 18
Anal atresia, Narrow mouth, Narrow palate, Intrauterine growth retardation, Cleft palate, Short s... ORPHA:3380
Marshall-Smith Syndrome
Failure to thrive, Gingival overgrowth, Protruding tongue, Open mouth ORPHA:561
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Cleft palate, Esophageal diverticulum, Neonatal death, Hamartoma of tongue, Cleft l... OMIM:617925
Rabson-Mendenhall Syndrome
High palate, Gingival overgrowth, Polydipsia, Macroglossia, Short stature, Severe postnatal growt... ORPHA:769
Hypoglossia-Hypodactyly Syndrome
High palate, Anal atresia, Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Hypodont... ORPHA:989
Mirage Syndrome
Decreased body weight, Gastroesophageal reflux, Short stature, Esophageal stricture, Achalasia, I... OMIM:617053
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Glossoptosis, Carious teeth ORPHA:93346
Acro-Renal-Mandibular Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Short philtrum, Oral cl... ORPHA:958
Distal Monosomy 12Q
Growth delay, Duodenal atresia, Supernumerary tooth, High, narrow palate, Short stature, Long phi... ORPHA:96149
Congenital Disorder Of Glycosylation, Type Iie
Failure to thrive, Narrow mouth, Gastroesophageal reflux, Short stature, Protruding tongue, Thick... OMIM:608779
Pitt-Hopkins-Like Syndrome 2
Gastroesophageal reflux, Wide mouth, Protruding tongue OMIM:614325
Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Disproportionate short stature, Bifid uvula, Cleft palate ORPHA:1427
Myopathy, Myofibrillar, 7
Dysphagia, Tongue atrophy OMIM:617114
Moebius Syndrome
High palate, Tooth agenesis, Aplasia/Hypoplasia of the tongue, Cleft palate, Everted lower lip ve... ORPHA:570
Hereditary Acrokeratotic Poikiloderma
Narrow mouth, Open bite, Short stature, Abnormality of the dentition, Xerostomia, Premature loss ... ORPHA:2907
Orofaciodigital Syndrome I
High palate, Cleft upper lip, Alveolar ridge overgrowth, Supernumerary tooth, Cleft palate, Short... OMIM:311200
Orofaciodigital Syndrome Type 2
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... ORPHA:2751
Cerebrocostomandibular Syndrome
High palate, Gastroesophageal reflux, Glossoptosis, Abnormality of the dentition, Short hard pala... OMIM:117650
Dyskeratosis Congenita, Autosomal Recessive 1
Esophageal stricture, Oral leukoplakia, Microdontia, Carious teeth OMIM:224230
Apert Syndrome
Ectopic anus, Narrow palate, Cleft palate, Delayed eruption of teeth, Bifid uvula, Esophageal atr... ORPHA:87
Angelman Syndrome
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue, Obesity OMIM:105830
Progeroid Short Stature With Pigmented Nevi
Hypodontia, Short stature, Small for gestational age, Irregular dentition, Esophageal ulceration,... OMIM:176690
X-Linked Dystonia-Parkinsonism
Protruding tongue, Impaired oropharyngeal swallow response ORPHA:53351
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Anal atresia, Cleft palate, Short stature, Intestinal malrotation, Bifid tongue,... OMIM:613091
Cowden Syndrome 1
High palate, Narrow mouth, Palmoplantar hyperkeratosis, Furrowed tongue, Colonic diverticula, Ham... OMIM:158350
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Growth delay, Macroglossia, Everted lower lip vermilion, Downturned corners of... ORPHA:96147
Imerslund-Gräsbeck Syndrome
Glossitis, Weight loss, Failure to thrive, Angular cheilitis ORPHA:35858
Cleidocranial Dysplasia
Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnormality of t... ORPHA:1452
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Hyperkeratosis, Oral leukoplakia, Microdontia OMIM:148210
Ring Chromosome 22 Syndrome
Thick vermilion border, Growth delay, Protruding tongue ORPHA:1446
Hardikar Syndrome
Failure to thrive, Hematemesis, Short stature, Intestinal malrotation, Bilateral cleft lip and pa... OMIM:301068
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Failure to thrive, Cleft ... ORPHA:861
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Short stature ORPHA:2031
Van Esch-O'Driscoll Syndrome
Wide mouth, Intrauterine growth retardation, Short stature, Tracheoesophageal fistula, Bifid uvul... OMIM:301030
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Bifid uvula, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:1790
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Slender build, Failure to thrive, Gastroesophageal reflux, Small for gestational age... OMIM:613658
Immunodeficiency 23
High palate, Failure to thrive, Esophageal stricture OMIM:615816
Cirrhosis, Familial
Esophageal varix OMIM:215600
Cartilage-Hair Hypoplasia
Malabsorption, Neonatal short-limb short stature, Anal stenosis, Esophageal atresia, Aganglionic ... OMIM:250250
Feingold Syndrome 1
High palate, Duodenal atresia, Everted lower lip vermilion, Tracheoesophageal fistula, Thick verm... OMIM:164280
Robinow Syndrome, Autosomal Dominant 3
Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Short stature, Agenesis... OMIM:616894
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Cleft palate, Bifid tongue, Lobulated tongue, Cleft lip, Rhizomelia, Natal tooth OMIM:616300
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Stevens-Johnson Syndrome
Esophageal stricture, Acantholysis, Dysphagia, Gastrointestinal hemorrhage, Weight loss ORPHA:36426
Juvenile Sialidosis Type 2
Dysphagia, Gingival overgrowth, Protruding tongue ORPHA:93399
Tarp Syndrome
Alveolar ridge overgrowth, Failure to thrive, Cleft palate, Glossoptosis, Abnormal duodenum morph... ORPHA:2886
Angelman Syndrome
Wide mouth, Gastroesophageal reflux, Delayed menarche, Abnormality of the gastrointestinal tract,... ORPHA:72
Leukocyte Adhesion Deficiency Type Ii
Recurrent gastroenteritis, Premature loss of teeth, Gingival overgrowth, Narrow palate, Failure t... ORPHA:99843
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Xerostomia, Abnormal esophagus morphology, Esophageal stricture, Esophag... ORPHA:99921
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Growth delay, Narrow mouth, Oral mucosal blisters, Gastroesophageal reflux, Carious teeth, Esopha... ORPHA:79408
Maternal Phenylketonuria
High palate, Intrauterine growth retardation, Esophageal atresia, Long philtrum ORPHA:2209
Fanconi Anemia, Complementation Group L
Anal atresia, Cleft palate, Tracheoesophageal fistula, Esophageal atresia, Growth delay, Intraute... OMIM:614083
Caroli Disease
Cholangiocarcinoma, Weight loss, Esophageal varix ORPHA:53035
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
U-Shaped upper lip vermilion, Growth delay, Gastroesophageal reflux, Macroglossia, Diastema, Prot... OMIM:301040
Fryns Syndrome
Cleft upper lip, Wide mouth, Anal atresia, Duodenal atresia, Stillbirth, Cleft palate, Intestinal... OMIM:229850
Cholestasis, Progressive Familial Intrahepatic, 8
Esophageal varix OMIM:619662
Kinsship Syndrome
Wide mouth, Gingival overgrowth, Failure to thrive, Gastroesophageal reflux, Short stature, Short... OMIM:619297
Autosomal Recessive Robinow Syndrome
Ectopic anus, Wide mouth, Gingival overgrowth, Disproportionate short-limb short stature, Supernu... ORPHA:1507
Adams-Oliver Syndrome 5
Esophageal varix OMIM:616028
Apert Syndrome
Ectopic anus, Dental malocclusion, Narrow palate, Cleft palate, Delayed eruption of teeth, Bifid ... OMIM:101200
Raine Syndrome
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Short stature, Microdon... OMIM:259775
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Duodenal ulcer, Esophageal ulceration OMIM:618372
Classic Homocystinuria
High palate, Gastrointestinal hemorrhage, Esophageal varix, Dental crowding ORPHA:394
Intellectual Developmental Disorder, Autosomal Dominant 29
High palate, Dental crowding, Narrow mouth, Narrow palate, Long philtrum, Open mouth, Thick vermi... OMIM:616078
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Protruding tongue OMIM:618797
Cowden Syndrome
High palate, Failure to thrive, Macroglossia, Short stature, Furrowed tongue, Colorectal polyposi... ORPHA:201
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Growth delay, Oral mucosal blisters, Enamel hypoplasia, Smooth tongue, Palmopl... ORPHA:79396
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Smooth philtrum, Everted lower lip vermilion ORPHA:324410
Pelvis-Shoulder Dysplasia
Cleft palate, Short stature, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb shorte... ORPHA:2839
Chand Syndrome
Agenesis of maxillary incisor, Cleft palate, Agenesis of permanent teeth, Bifid tongue, Commissur... ORPHA:1401
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Dental malocclusion, Growth delay, Tooth agenesis, High, narrow palate, Cleft palate, Open bite, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Dental malocclusion, Growth delay, Tooth agenesis, High, narrow palate, Cleft palate, Open bite, ... ORPHA:352665
Contractures-Developmental Delay-Pierre Robin Syndrome
Glossoptosis, High, narrow palate, Cleft palate ORPHA:436003
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Narrow mouth ORPHA:990
Robinow Syndrome
Dental malocclusion, Gingival overgrowth, Persistence of primary teeth, Triangular mouth, Tooth m... ORPHA:97360
Opitz Gbbb Syndrome
High palate, Anal atresia, Ectopic anus, Hypodontia, Cleft palate, Short stature, Tracheoesophage... ORPHA:2745
Feingold Syndrome Type 1
Anal atresia, Duodenal atresia, Short stature, Gastrointestinal atresia, Jejunal atresia, Esophag... ORPHA:391641
Autosomal Dominant Cerebellar Ataxia
Tongue fasciculations, Hyperkeratosis, Pseudobulbar paralysis, Tongue atrophy ORPHA:99
Cerebrocostomandibular Syndrome
Cleft palate, Short stature, Glossoptosis, Short hard palate, Intrauterine growth retardation ORPHA:1393
Short-Rib Thoracic Dysplasia 12
Intestinal malrotation, Neonatal death, Lobulated tongue, Hamartoma of tongue, Median cleft lip a... OMIM:269860
Orofaciodigital Syndrome Type 1
High palate, Abnormal dental enamel morphology, Accessory oral frenulum, Hypodontia, Cleft palate... ORPHA:2750
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, High, narrow palate, Cleft palate, Short stature, Pyloric stenosis, Growth delay, A... ORPHA:261330
1Q21.1 Microdeletion Syndrome
High palate, Failure to thrive, Short stature, Long philtrum, Ankyloglossia, Intrauterine growth ... ORPHA:250989
Distal Monosomy 15Q
Failure to thrive, Growth delay, Cleft palate, Small for gestational age, Short stature, Abnormal... ORPHA:1596
Lysosomal Acid Lipase Deficiency
Failure to thrive, Steatorrhea, Cachexia, Esophageal varix, Weight loss ORPHA:275761
Otopalatodigital Syndrome Type 2
Anodontia, Narrow mouth, Failure to thrive, Cleft palate, Glossoptosis, Oligodontia, Pierre-Robin... ORPHA:90652
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Growth delay, Cleft palate, Disproportionate short-trunk short stature ORPHA:94068
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Short stature, Abnormality of the dentition, Anteriorly placed anus, Microglos... OMIM:151050
Gabriele-De Vries Syndrome
High palate, Intrauterine growth retardation, Oral-pharyngeal dysphagia, Small for gestational ag... ORPHA:506358
Robinow Syndrome, Autosomal Dominant 1
High palate, Gingival overgrowth, Narrow palate, Persistence of primary teeth, Triangular mouth, ... OMIM:180700
Hallermann-Streiff Syndrome
Abnormality of the tongue, Narrow mouth, Supernumerary tooth, High, narrow palate, Glossoptosis, ... ORPHA:2108
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Decreased body weight, Gastroesophageal reflux, Macroglossia, Protruding tongue, Open mouth, Dysp... ORPHA:258
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Failure to thrive, High, narrow palate, Macroglossia, Protruding tongue, Dysphagia OMIM:214100
Senior-Boichis Syndrome
Polydipsia, Esophageal varix ORPHA:84081
Autosomal Recessive Polycystic Kidney Disease
Growth delay, Cholangiocarcinoma, Polydipsia, Hepatoblastoma, Protein-losing enteropathy, Esophag... ORPHA:731
Vacterl With Hydrocephalus
Tracheoesophageal fistula, Anal atresia, Esophageal atresia, Intrauterine growth retardation ORPHA:3412
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Cleft palate, Everted lower lip vermilion, Short philtrum, Furrowed tongue, ... ORPHA:464738
Pachyonychia Congenita
Failure to thrive, Palmar hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural are... ORPHA:2309
Cousin Syndrome
Alveolar ridge overgrowth, Cleft palate, Rhizomelia, Microglossia, Disproportionate short stature OMIM:260660
Autosomal Dominant Robinow Syndrome
Anodontia, Gingival overgrowth, Supernumerary tooth, High, narrow palate, Hypodontia, Open bite, ... ORPHA:3107
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Wide mouth, Failure to thrive, Gastroesophageal reflux, High, narrow palate, Cleft palate, Short ... OMIM:619950
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Intestinal polyposis, Esophageal varix ORPHA:774
Giant Cell Arteritis
Glossitis, Gastrointestinal infarctions, Weight loss ORPHA:397
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoesophageal fistula, ... OMIM:265380
Marshall-Smith Syndrome
High palate, Failure to thrive, Gingival overgrowth, Decreased body weight, Short mandibular rami... OMIM:602535
Stickler Syndrome
Cleft upper lip, Slender build, Tooth agenesis, Gastroesophageal reflux, Cleft palate, Open bite,... ORPHA:828
Robinow Syndrome, Autosomal Recessive 1
Wide mouth, Gingival overgrowth, Triangular mouth, Macroglossia, Short stature, Bifid tongue, Lon... OMIM:268310
Frontorhiny
Bifid tongue, Cleft palate ORPHA:391474
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Short stature, Esophageal atresia, Small for gestational age OMIM:227646
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Esophageal varix, Oral ulcer, Aphthous ulcer OMIM:615688
Wilson Disease
Dysphagia, Hepatocellular carcinoma, Esophageal varix OMIM:277900
Pallister-Hall Syndrome
Cleft upper lip, Anal atresia, Cleft palate, Short stature, Neonatal death, Anteriorly placed anu... OMIM:146510
Smith-Lemli-Opitz Syndrome
Wide mouth, Gingival overgrowth, Tooth agenesis, Supernumerary tooth, Gastroesophageal reflux, Cl... ORPHA:818
Charcot-Marie-Tooth Disease Type 4C
Failure to thrive, Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy ORPHA:99949
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Duodenal atresia, Gastroesophageal reflux, Short stature, Furrowed tongue, Cleft lip... OMIM:616975
Developmental And Epileptic Encephalopathy 100
High palate, Gingival overgrowth, Gastroesophageal reflux, Microdontia, Enamel hypoplasia, Protru... OMIM:619777
Stuve-Wiedemann Syndrome 1
Pursed lips, Short stature, Thin vermilion border, Carious teeth, Smooth tongue, Dysphagia OMIM:601559
Glucagonoma
Steatorrhea, Abnormal gastrointestinal motility, Intestinal obstruction, Stomatitis, Glossitis, G... ORPHA:97280
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Esophageal varix, Delayed puberty, Growth delay, Gastric ulcer ORPHA:2072
Congenital Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93400
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Tongue atrophy ORPHA:99956
Microphthalmia, Syndromic 3
Postnatal growth retardation, Esophageal atresia, Short stature OMIM:206900
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Stomatitis, Glossitis, Growth delay, Intrauterine growth retardation, Smooth p... ORPHA:79282
Achondrogenesis, Type Ia
Stillbirth, Protruding tongue, Disproportionate short-trunk short stature OMIM:200600
Hepatocellular Carcinoma
Weight loss, Esophageal varix, Abnormal rectum morphology ORPHA:88673
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy ORPHA:101085
Caroli Syndrome
Melena, Cholangiocarcinoma, Esophageal varix, Hematemesis ORPHA:480520
Dyskeratosis Congenita, X-Linked
Premature loss of teeth, Intrauterine growth retardation, Short stature, Anal mucosal leukoplakia... OMIM:305000
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Cleft palate, Short stature, Downturned corners of mouth, Ankyloglossia, Intrauterine growth reta... ORPHA:488642
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix ORPHA:309854
Congenital Tracheomalacia
Gastroesophageal reflux, Tracheoesophageal fistula, Failure to thrive, Esophageal atresia ORPHA:95430
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
High palate, Wide mouth, U-Shaped upper lip vermilion, Gastroesophageal reflux, Macroglossia, Sho... OMIM:309580
Fontaine Progeroid Syndrome
Failure to thrive, Narrow mouth, Gastroesophageal reflux, High, narrow palate, Everted lower lip ... OMIM:612289
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Intestinal malrotation, Hamartoma of tongue, Median cleft lip, Microglossia OMIM:263520
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Wide mouth, Narrow mouth, Failure to thrive, Agenesis of permanent teeth, Delayed er... OMIM:619503
Severe Generalized Junctional Epidermolysis Bullosa
Failure to thrive, Esophageal stricture, Abnormal oral mucosa morphology, Enamel hypoplasia, Eros... ORPHA:79404
Vater/Vacterl Association
Failure to thrive, Anal atresia, Intrauterine growth retardation, Tracheoesophageal fistula, Post... OMIM:192350
Agel Amyloidosis
Xerostomia, Tongue atrophy ORPHA:85448
Yunis-Varon Syndrome
Postnatal growth retardation, High, narrow palate, Severe failure to thrive, Short stature, Gloss... ORPHA:3472
Orofaciodigital Syndrome Xiv
Supernumerary tooth, Cleft palate, Bifid tongue, Lobulated tongue, Hamartoma of tongue, Aplasia o... OMIM:615948
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Plantar hyperkeratosis, Oral leukoplakia OMIM:615735
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Bilateral Perisylvian Polymicrogyria
Pseudobulbar paralysis, Gastroesophageal reflux, Protruding tongue, Dysphagia, Intrauterine growt... ORPHA:98889
Degcags Syndrome
High palate, Wide mouth, Failure to thrive, Hiatus hernia, Intestinal atresia, Gastroesophageal r... OMIM:619488
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
High palate, Gastroesophageal reflux, Macroglossia, Short stature, Glossoptosis, Long philtrum, D... ORPHA:444077
Meckel Syndrome, Type 1
Cleft upper lip, Wide mouth, Anal atresia, Cleft palate, Intestinal malrotation, Lobulated tongue... OMIM:249000
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Ganglioneuromatosis, Thick vermilion border, Abnormal tongue morphology, A... ORPHA:653
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Anal atresia, Ectopic anus, Disproportionate short-limb short stature, Bifid ton... ORPHA:93271
Okamoto Syndrome
Gastroesophageal reflux, Cleft palate, Open bite, Intestinal malrotation, Severe postnatal growth... ORPHA:2729
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Long philtrum, Rhizomelia, Protruding tongue, Natal tooth ORPHA:50945
Joubert Syndrome 1
Triangular-shaped open mouth, Protruding tongue, Macroglossia OMIM:213300
Smith-Lemli-Opitz Syndrome
Failure to thrive, Gastroesophageal reflux, Cleft palate, Short stature, Intestinal malrotation, ... OMIM:270400
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Supernumerary tooth, Cleft palate, Bifid tongue, Lobulated tongue, Hamar... ORPHA:434179
Down Syndrome
Anal atresia, Macroglossia, Short stature, Protruding tongue, Duodenal stenosis, Aganglionic mega... OMIM:190685
Viss Syndrome
High palate, Chronic gastritis, Failure to thrive, Gastroesophageal reflux, High, narrow palate, ... OMIM:619472
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High palate, Failure to thrive, Intrauterine growth retardation, Decreased body weight, High, nar... OMIM:619475
Charge Syndrome
Cleft upper lip, Anal atresia, Duodenal atresia, Cleft palate, Tracheoesophageal fistula, Anal st... OMIM:214800
Fraser Syndrome
High palate, Anal atresia, Ectopic anus, Dental malocclusion, Cleft upper lip, Bifid tongue, Oral... ORPHA:2052
Biliary, Renal, Neurologic, And Skeletal Syndrome
Failure to thrive, Gastroesophageal reflux, Everted lower lip vermilion, Short stature, Neonatal ... OMIM:619534
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Microsporidiosis
Glossitis, Weight loss, Cachexia ORPHA:2552
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Smooth tongue, Intrauterine growth retardation, Short stature ORPHA:3206
Meckel Syndrome
Furrowed tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:564
Hutchinson-Gilford Progeria Syndrome
High palate, Narrow mouth, Persistence of primary teeth, Hypodontia, Severe failure to thrive, Th... ORPHA:740
Carney Complex
Neoplasm of the rectum, Esophageal neoplasm, Abdominal obesity, Abnormal hard palate morphology, ... ORPHA:1359
Chilton-Okur-Chung Neurodevelopmental Syndrome
Wide mouth, Short stature, Short philtrum, Widely spaced teeth, Ankyloglossia, Thin upper lip ver... OMIM:619841
Neuroocular Syndrome
Short stature, Short uvula, Torus palatinus, Downturned corners of mouth, Widely spaced teeth, In... OMIM:619539
Congenital Disorder Of Glycosylation, Type Iiw
Gastroesophageal reflux, Failure to thrive, Ankyloglossia, Supernumerary tooth OMIM:619525
Simpson-Golabi-Behmel Syndrome, Type 1
Wide mouth, Anal atresia, Dental malocclusion, Gingival overgrowth, Narrow palate, Cleft palate, ... OMIM:312870
Pallister-Hall Syndrome
Anal atresia, Accessory oral frenulum, Cleft palate, Short stature, Bifid uvula, Large for gestat... ORPHA:672
Kawasaki Disease
Glossitis, Cheilitis ORPHA:2331
Plague
Enterocolitis, Hematemesis, Inflammation of the large intestine, Glossitis, Chapped lip ORPHA:707
Microphthalmia, Syndromic 6
High palate, Failure to thrive, Cleft palate, Bifid uvula, Microglossia OMIM:607932
Choreoacanthocytosis
Dysphagia, Weight loss, Protruding tongue ORPHA:2388
Alström Syndrome
Tooth agenesis, Gastroesophageal reflux, Short stature, Delayed menarche, Truncal obesity, Gingiv... ORPHA:64
Pachyonychia Congenita 4
Palmoplantar keratoderma OMIM:615728

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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