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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
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli... OMIM:615726
Pachyonychia Congenita
Natal tooth, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmop... ORPHA:2309
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, 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
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Hartnup Disorder
Glossitis, Hyperactivity, Short stature, Attention deficit hyperactivity disorder OMIM:234500
Plummer-Vinson Syndrome
Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Narrow mouth, Cheilitis, Esophageal web,... ORPHA:54028
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Short stature, Esophageal stricture, Hyperkeratosis, Palmoplantar kera... OMIM:616029
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los... ORPHA:2198
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Dysphagia OMIM:617732
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate, Weight loss ORPHA:141152
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Catel-Manzke Syndrome
Short stature, Cleft palate, Glossoptosis, Failure to thrive, Oral synechia ORPHA:1388
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:613435
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Satb2-Associated Syndrome Due To A Pathogenic Variant
Thin upper lip vermilion, Abnormality of the dentition, Postnatal growth retardation, Celiac dise... ORPHA:576283
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, Hyperkera... ORPHA:530
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters OMIM:619817
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Dysphagia, Growt... OMIM:226600
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Impulsivity, Compulsive behaviors, Dysphagia, Violent behavior ORPHA:216873
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dyspha... ORPHA:89842
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Dysphagia ORPHA:496689
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Short stature, Furrowed tongue ORPHA:2928
Cronkhite-Canada Syndrome
Intestinal polyposis, Anorexia, Malabsorption, Cachexia, Hypogeusia, Furrowed tongue, Hamartomato... ORPHA:2930
Noonan Syndrome 7
Short stature, Large for gestational age, Growth delay, Thick vermilion border, Dysphagia, Impair... OMIM:613706
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... OMIM:148500
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis OMIM:615190
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Seckel Syndrome 2
Short stature, Small for gestational age, Growth delay, Microdontia, Microglossia OMIM:606744
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Dyskeratosis Congenita, Autosomal Dominant 6
Intrauterine growth retardation, Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition OMIM:616553
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue, Hyperkeratosis ORPHA:1839
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Small for gestational age, Postnatal growth retardation, Pyloric stenosis, Obesity... ORPHA:96184
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Wolman Disease
Growth delay, Esophageal varix, Cachexia, Steatorrhea ORPHA:75233
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Microglossia, Small for gestational age, Narrow mouth OMIM:227270
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Dysphagia OMIM:158900
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Short stature, Pierre-Robin sequence, Growth delay, Glossoptosis, High ... OMIM:613604
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Velopharyngeal in... ORPHA:199306
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short stature, Furrowed tongue, High palate, Short philtrum, Everted lower lip vermilion, Tooth m... ORPHA:1387
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Postnatal growth retardation, High ... OMIM:620242
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Cachexia, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los... OMIM:175500
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Narrow palate, Self-injur... ORPHA:313892
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Gastroesophageal reflux, ... ORPHA:1018
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia ORPHA:3201
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Growth delay, Intrauterine growth retardation, Esophageal varix, Gastrointestinal hemorrhage OMIM:617341
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Abnormal soft palat... ORPHA:884
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli... OMIM:615726
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Short philtrum, Abnormal... OMIM:613443
Whistling Face Syndrome, Recessive Form
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia OMIM:277720
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Protruding tongue, Tongue thrusting, Obesity, Wide mouth, Widely spaced... ORPHA:411511
Immunodeficiency 12
Short stature, Esophageal stricture, Cheilitis, Growth delay, Recurrent aphthous stomatitis, Decr... OMIM:615468
Non-Syndromic Posterior Hypospadias
Small for gestational age, Esophageal atresia, Anal atresia, Cleft palate ORPHA:95706
Acrodermatitis Enteropathica
Short stature, Anorexia, Malabsorption, Abnormality of the tongue, Cheilitis, Furrowed tongue, We... ORPHA:37
Congenital Disorder Of Glycosylation, Type Iil
Esophageal varix, Growth delay, Hyperkeratosis, Inflammation of the large intestine, Intrauterine... OMIM:614576
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Failure to thrive, Cleft palate, Aggressive behavior OMIM:618356
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Pierre-Robin sequence, Short stature, Cleft palate OMIM:620269
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Auriculocondylar Syndrome 1
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... OMIM:602483
Barrett Esophagus
Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus, Esophageal ulceration OMIM:614266
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Growth... ORPHA:79409
Cholesteryl Ester Storage Disease
Esophageal varix ORPHA:75234
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Weight loss... ORPHA:131
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... OMIM:300602
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Septo-Optic Dysplasia Spectrum
Short stature, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Obesity, Polydipsia ORPHA:3157
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Weight loss ORPHA:2221
Orofaciodigital Syndrome Iv
Short stature, Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High... OMIM:258860
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... OMIM:174300
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... ORPHA:3241
Hypoglossia With Situs Inversus
Microglossia, High palate, Hypodontia, Narrow mouth OMIM:612776
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Abnormal tongue morphology, Gastrointestinal dysmotility, Downturne... ORPHA:531151
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Pontocerebellar Hypoplasia, Type 1B
Growth delay, Tongue atrophy, Tongue fasciculations OMIM:614678
Hereditary Folate Malabsorption
Anorexia, Cheilitis, Gastroesophageal reflux, Failure to thrive, Glossitis ORPHA:90045
Glycogen Storage Disease Iv
Failure to thrive, Esophageal varix OMIM:232500
Auriculocondylar Syndrome
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... ORPHA:137888
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attent... OMIM:619227
Congenital Disorder Of Glycosylation, Type Iia
Short stature, Macrodontia, Aggressive behavior, Postnatal growth retardation, Diastema, Protrudi... OMIM:212066
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Carious teeth, Gingivitis, Palmoplantar hyperkeratosis, Perio... OMIM:173650
Joubert Syndrome 18
Intrauterine growth retardation, Lobulated tongue, Cleft palate OMIM:614815
Dyskeratosis Congenita, Autosomal Dominant 2
Short stature, Abnormality of the dentition, Esophageal stricture, Palmoplantar hyperkeratosis, F... OMIM:613989
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Intrauterine g... OMIM:612938
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Esophageal stenosis, Downturned corners of mouth, Hyperkeratosis, Short philtrum, Dysphagia, Acha... OMIM:615510
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum OMIM:614526
Methimazole Embryofetopathy
Intrauterine growth retardation, Esophageal atresia, Tracheoesophageal fistula ORPHA:1923
Mulibrey Nanism
Short stature, Dental crowding, Dental malocclusion, Growth delay, Hypodontia, Intrauterine growt... OMIM:253250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, Malabsorption, Protruding tongue, Macroglossia, Failure to thrive OMIM:242860
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Abnormal eating behavior, Protruding tongue, Tongue thrusting, Obesity, Wide mouth... ORPHA:98794
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Short stature, Abnormality of the dentition, Carious tee... ORPHA:158668
Fanconi Anemia, Complementation Group Q
Growth delay, Esophageal atresia, Short stature, Anteriorly placed anus OMIM:615272
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Hyperactivity, Thin upper lip vermilion, Short stature, Aggressive behavior, Diaste... OMIM:300534
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Intrauterine growth retard... OMIM:620133
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Hartnup Disease
Glossitis, Short stature, Gingivitis, Malabsorption ORPHA:2116
Portal Hypertension, Noncirrhotic, 2
Esophageal varix, Hepatocellular carcinoma OMIM:619463
Psoriasis 14, Pustular
Parakeratosis, Geographic tongue, Furrowed tongue OMIM:614204
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
X-Linked Agammaglobulinemia
Short stature, Malabsorption, Weight loss, Glossoptosis, Failure to thrive ORPHA:47
Intellectual Developmental Disorder, Autosomal Dominant 58
Short stature, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High ... OMIM:618106
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Aggressive behavior, Protruding tongue, Obesity, Macro... OMIM:610253
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Microglossia, Narrow mouth ORPHA:1972
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Short stature, Bilateral cleft lip and palate, High palate, Enamel hypo... OMIM:618874
Carey-Fineman-Ziter Syndrome
Short stature, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Growth dela... ORPHA:1358
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:614153
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations, Attention deficit hyperactivity disorder, Dysphagia ORPHA:276198
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Esophageal atresia, Short stature, Tracheoesophageal fistula OMIM:619859
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Protruding tongue, Tongue thrusting, Wide mouth, Widely spaced teeth, Dysphagia ORPHA:98795
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Short stature, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth OMIM:615065
Pallister-Hall-Like Syndrome
Microglossia, Median cleft lip, Short stature, Cleft palate OMIM:241800
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Short stature, Small for gestational age, Tracheoesophageal fistula, Hi... OMIM:277380
Tarp Syndrome
Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Intra... OMIM:311900
Adams-Oliver Syndrome 6
Esophageal varix OMIM:616589
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... OMIM:616367
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Rhizomelia, Short stature, Failure to thrive in infancy, Postnatal grow... OMIM:611209
Holzgreve Syndrome
Intrauterine growth retardation, Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:870
Lelis Syndrome
Carious teeth, Hypodontia, Palmoplantar hyperkeratosis, Furrowed tongue ORPHA:140936
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Protruding tongue, Gingival overgrowth, Long philtrum, Failure to thrive, Stereoty... OMIM:619179
Van Esch-O'Driscoll Syndrome
Short stature, Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Downturn... OMIM:301030
Methylmalonic Acidemia With Homocystinuria Type Cblf
Cleft palate, Growth delay, Stomatitis, Intrauterine growth retardation, Failure to thrive, Gloss... ORPHA:79284
Angelman Syndrome
Abnormality of the gastrointestinal tract, Hyperactivity, Aggressive behavior, Protruding tongue,... ORPHA:72
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture, Palmoplantar hyperkeratosis ORPHA:158673
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Obesity, Narrow pa... OMIM:616078
Kindler Epidermolysis Bullosa
Abnormal dental enamel morphology, Premature loss of primary teeth, Carious teeth, Esophageal str... ORPHA:2908
Aspergillosis
Abnormal esophagus morphology ORPHA:1163
Ramos-Arroyo Syndrome
Severe short stature, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mou... ORPHA:1051
Dyskeratosis Congenita
Esophageal stenosis, Short stature, Abnormality of the dentition, Carious teeth, Malabsorption, A... ORPHA:1775
Feingold Syndrome
Esophageal atresia, Short stature, Orofacial cleft, Duodenal atresia ORPHA:1305
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
Tetraamelia Syndrome 2
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate OMIM:618021
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Enamel hypoplasia, Congenital pyloric atresia, Oral mucosal blisters OMIM:226730
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Rhizomelia, Cleft palate ORPHA:440354
Mohr Syndrome
Median cleft lip, Short stature, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated... OMIM:252100
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Narrow mouth, Anal atresia ORPHA:59315
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Short stature, Esophageal varix, Increased body weight, Hepatocellular adenoma, Growth delay, Del... ORPHA:264580
Mandibuloacral Dysplasia
Dental crowding, Postnatal growth retardation, Abnormal tongue morphology, Hypoplasia of teeth, H... ORPHA:2457
Distal Deletion 12Q
Hyperactivity, Median cleft lip, Short stature, Failure to thrive in infancy, High, narrow palate... ORPHA:96149
Trisomy 8Q
Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ... ORPHA:1752
Cowden Syndrome 5
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... OMIM:615108
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
Coach Syndrome 1
Growth delay, Wide mouth, Esophageal varix OMIM:216360
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Esophageal varix ORPHA:367
Icf Syndrome
Macroglossia, Malabsorption, Short stature, Protruding tongue ORPHA:2268
Distal Limb Deficiencies-Micrognathia Syndrome
Short stature, Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia ORPHA:1307
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Protruding tongue, Growth delay, Wide mouth, High palate, Long philtr... OMIM:618580
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... ORPHA:364577
Dyskeratosis Congenita, Autosomal Recessive 1
Carious teeth, Esophageal stricture, Palmoplantar hyperkeratosis, Microdontia, Oral leukoplakia OMIM:224230
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:314390
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Abnormality of primary teeth, Agenesis of permanent teeth, Palmoplantar h... OMIM:257980
Angelman Syndrome
Hyperactivity, Protruding tongue, Obesity, Wide mouth, Macroglossia, Widely spaced teeth, Paroxys... OMIM:105830
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal dysmotility, Cleft palate, Furrowed t... ORPHA:453499
Cohen Syndrome
Short stature, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the dentition, Failu... ORPHA:193
Hypoglossia-Hypodactylia
Microglossia, Aglossia, Narrow mouth OMIM:103300
Microgastria-Limb Reduction Defect Syndrome
Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tra... ORPHA:2538
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue ORPHA:2759
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Deep philtrum, Short stature, Cleft palate OMIM:610536
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... ORPHA:2752
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Rhizomelia, Short stature ORPHA:166016
Orofaciodigital Syndrome Type 6
Failure to thrive, Short stature, Hamartoma of tongue, Cleft palate, Midline notch of upper alveo... ORPHA:2754
Cowden Syndrome 6
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... OMIM:615109
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia OMIM:241310
Agnathia-Otocephaly Complex
Microglossia, Aglossia, Cleft palate, Narrow mouth OMIM:202650
Cholesteryl Ester Storage Disease
Failure to thrive, Esophageal varix, Steatorrhea OMIM:278000
Ring Chromosome 22 Syndrome
Growth delay, Inappropriate behavior, Thick vermilion border, Protruding tongue ORPHA:1446
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Cleft palate, Growth delay, Glossoptosis, High palate, Gastroesophageal re... OMIM:254940
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, Protruding tongue, Postnatal growth retardation, High palate, Short philtrum OMIM:300963
Fanconi Anemia, Complementation Group B
Esophageal atresia, Tracheoesophageal fistula, Growth delay, Intrauterine growth retardation, Duo... OMIM:300514
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... OMIM:608670
Developmental And Epileptic Encephalopathy 31B
Protruding tongue, Failure to thrive, Gingival overgrowth, Choking episodes OMIM:620352
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Narrow ... ORPHA:989
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Gingival overgrowth, Dysphagia, Narrow mouth, Failure to thrive OMIM:230600
Gracile Bone Dysplasia
Failure to thrive, Ankyloglossia, Short stature OMIM:602361
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Esophageal varix ORPHA:974
Mirage Syndrome
Short stature, Esophageal stricture, Gastroesophageal reflux, Decreased body weight, Intrauterine... OMIM:617053
Maternal Phenylketonuria
Hyperactivity, Esophageal atresia, High palate, Long philtrum, Intrauterine growth retardation ORPHA:2209
Orofaciodigital Syndrome Vi
Failure to thrive, Short stature, Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, ... OMIM:277170
Trisomy 18
Short stature, Cachexia, Esophageal atresia, Non-midline cleft lip, Cleft palate, Narrow palate, ... ORPHA:3380
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Cleft lip, Cleft palate, Neonatal deat... OMIM:617925
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ... ORPHA:958
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Impulsivity, Aggressive behavior, Protruding tongue, Tongue thrusting, Attention deficit hyperact... OMIM:619580
Classic Homocystinuria
Gastrointestinal hemorrhage, Dental crowding, Anorexia, Esophageal varix, High palate ORPHA:394
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Growth delay, Attention deficit hype... OMIM:614083
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Marshall-Smith Syndrome
Open mouth, Failure to thrive, Gingival overgrowth, Protruding tongue ORPHA:561
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Rabson-Mendenhall Syndrome
Short stature, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongu... ORPHA:769
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Short stature, Hamartoma of tongue, Unilateral alveolar cleft of m... ORPHA:2751
Benign Schwannoma
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology ORPHA:252164
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Everted lower lip ve... ORPHA:570
Apert Syndrome
Delayed eruption of teeth, Esophageal atresia, Cleft palate, Narrow palate, Ectopic anus, Bifid u... ORPHA:87
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Gastroesophageal reflux, Protruding tongue OMIM:614325
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... OMIM:616449
Myopathy, Myofibrillar, 7
Tongue atrophy, Dysphagia OMIM:617114
Rajab Interstitial Lung Disease With Brain Calcifications 1
Short stature, Intestinal malrotation, Small for gestational age, Esophageal varix, Growth delay,... OMIM:613658
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Rhizomelia, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the up... OMIM:616300
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Enamel hypoplasia, Dy... ORPHA:79408
Kinsship Syndrome
Thin upper lip vermilion, Short stature, Thick lower lip vermilion, Gingival overgrowth, Downturn... OMIM:619297
Caroli Disease
Cholangiocarcinoma, Esophageal varix, Anorexia, Weight loss ORPHA:53035
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Postnatal growth retardation, Cleft lip, Carious teeth, Pierre-... OMIM:117650
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Bifid uvula, Cleft palate, Narrow mouth ORPHA:1790
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Protruding tongue ORPHA:53351
Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Disproportionate short stature, Bifid uvula, Cleft palate ORPHA:1427
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Short stature, Premature loss of primary teeth, Abnorm... ORPHA:2907
Immunodeficiency 23
Esophageal stricture, Failure to thrive, High palate OMIM:615816
Progeroid Short Stature With Pigmented Nevi
Irregular dentition, Short stature, Small for gestational age, Hypodontia, Delayed puberty, Esoph... OMIM:176690
Distal 22Q11.2 Microdeletion Syndrome
Thin upper lip vermilion, Short stature, High, narrow palate, Narrow mouth, Pyloric stenosis, Cle... ORPHA:261330
Chronic Graft Versus Host Disease
Anorexia, Esophageal stricture, Xerostomia, Abnormal esophagus physiology, Weight loss, Gastroeso... ORPHA:99921
Cowden Syndrome 1
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... OMIM:158350
Orofaciodigital Syndrome I
Median cleft lip, Short stature, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumera... OMIM:311200
Kleefstra Syndrome Due To 9Q34 Microdeletion
Protruding tongue, Obesity, Growth delay, Macroglossia, Downturned corners of mouth, Everted lowe... ORPHA:96147
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short stature, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid ... OMIM:613091
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acantholysis, Esophageal stricture, Weight loss, Dysphagia ORPHA:36426
Cleidocranial Dysplasia
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Abnormality of the d... ORPHA:1452
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Postnatal growth retardation, Diastema, Thick lower lip vermilion, Growth dela... OMIM:301040
Hardikar Syndrome
Short stature, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal... OMIM:301068
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Protruding tongue, Stereotypical hand wringing, High palate, Everted lower lip vermilion, Bruxism... OMIM:617804
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Microdontia, Hyperkeratosis, Oral leukoplakia, Furrowed tongue OMIM:148210
Cartilage-Hair Hypoplasia
Anal stenosis, Aganglionic megacolon, Absent pubertal growth spurt, Malabsorption, Esophageal atr... OMIM:250250
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Gastroesophageal reflux, Compulsive behavi... OMIM:615873
Senior-Boichis Syndrome
Aggressive behavior, Esophageal varix, Agitation, Attention deficit hyperactivity disorder, Polyd... ORPHA:84081
Imerslund-Gräsbeck Syndrome
Failure to thrive, Glossitis, Angular cheilitis, Weight loss ORPHA:35858
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:211530
Treacher-Collins Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... ORPHA:861
Fryns Syndrome
Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Cleft upper lip, Large... OMIM:229850
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Short stature ORPHA:2031
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Distal Deletion 15Q
Thin upper lip vermilion, Failure to thrive, Short stature, Small for gestational age, Abnormalit... ORPHA:1596
Cholestasis, Progressive Familial Intrahepatic, 8
Esophageal varix OMIM:619662
Cirrhosis, Familial
Esophageal varix OMIM:215600
Juvenile Sialidosis Type 2
Protruding tongue, Gingival overgrowth, Dysphagia ORPHA:93399
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Esophageal varix, Hematemesis OMIM:263200
1Q21.1 Microdeletion Syndrome
Short stature, High palate, Attention deficit hyperactivity disorder, Long philtrum, Intrauterine... ORPHA:250989
Apert Syndrome
Delayed eruption of teeth, Esophageal atresia, Pyloric stenosis, Dental malocclusion, Cleft palat... OMIM:101200
Congenital Disorder Of Glycosylation, Type Iie
Short stature, Protruding tongue, Growth delay, Thick vermilion border, Gastroesophageal reflux, ... OMIM:608779
Robinow Syndrome, Autosomal Dominant 3
Short stature, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of per... OMIM:616894
Adams-Oliver Syndrome 5
Esophageal varix OMIM:616028
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... OMIM:619950
Tarp Syndrome
Failure to thrive, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, ... ORPHA:2886
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... ORPHA:352665
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Short stature, Small for gestational age, Protruding tongue, Deep philtrum,... ORPHA:99843
Au-Kline Syndrome
Failure to thrive, Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia, H... OMIM:616580
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentition, Open bite, Sup... ORPHA:1507
Generalized Pustular Psoriasis
Overweight, Geographic tongue, Cheilitis, Obesity ORPHA:247353
Raine Syndrome
Natal tooth, Short stature, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, Hig... OMIM:259775
Pelvis-Shoulder Dysplasia
Short stature, Mesomelic/rhizomelic limb shortening, Cleft palate, Neonatal short-trunk short sta... ORPHA:2839
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Protruding tongue OMIM:618797
Cowden Syndrome
Short stature, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, ... ORPHA:201
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Glossoptosis, Cleft palate ORPHA:436003
Giant Cell Arteritis
Gastrointestinal infarctions, Glossitis, Anorexia, Weight loss ORPHA:397
Feingold Syndrome 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, Thick v... OMIM:164280
Arima Syndrome
Growth delay, Polydipsia, Wide mouth, Esophageal varix OMIM:243910
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavior, High, narrow palate, Cl... ORPHA:464738
Mucoepithelial Dysplasia, Hereditary
Melena, Erythematous oral mucosa, Follicular hyperkeratosis, Furrowed tongue OMIM:158310
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Failure to thrive, Protruding tongue, High palate, Attention deficit hy... OMIM:617062
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Oral mucosal blisters, Growth delay, Palmoplantar keratoderma, Smooth tongue, Enamel hypoplasia, ... ORPHA:79396
Robinow Syndrome
Short stature, Dental crowding, Small for gestational age, Persistence of primary teeth, Dental m... ORPHA:97360
Gabriele-De Vries Syndrome
Abnormality of upper lip vermillion, Small for gestational age, Oral-pharyngeal dysphagia, Abnorm... ORPHA:506358
Feingold Syndrome Type 1
Jejunal atresia, Short stature, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duode... ORPHA:391641
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Neo... OMIM:269860
Opitz Gbbb Syndrome
Natal tooth, Short stature, Cleft lip, Tracheoesophageal fistula, Cleft palate, Ectopic anus, Hig... ORPHA:2745
Orofaciodigital Syndrome Type 1
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue... ORPHA:2750
Lysosomal Acid Lipase Deficiency
Cachexia, Esophageal varix, Weight loss, Steatorrhea, Failure to thrive ORPHA:275761
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Narrow mouth ORPHA:990
Fanconi Anemia, Complementation Group D2
Small for gestational age, Short stature, Esophageal atresia, Tracheoesophageal fistula, Attentio... OMIM:227646
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Aphthous ulcer, Esophageal varix, Agitation, Oral ulcer OMIM:615688
Vacterl With Hydrocephalus
Intrauterine growth retardation, Esophageal atresia, Tracheoesophageal fistula, Anal atresia ORPHA:3412
Cerebrocostomandibular Syndrome
Short stature, Cleft palate, Glossoptosis, Intrauterine growth retardation, Short hard palate ORPHA:1393
Chand Syndrome
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... ORPHA:1401
Catel-Manzke Syndrome
Cleft upper lip, Postnatal growth retardation, Pierre-Robin sequence, Cleft palate, Glossoptosis,... OMIM:616145
Pachyonychia Congenita
Natal tooth, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmop... ORPHA:2309
Smith-Lemli-Opitz Syndrome
Rhizomelia, Short stature, Abnormal dental enamel morphology, Aganglionic megacolon, Abnormal den... ORPHA:818
Otopalatodigital Syndrome Type 2
Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Failure to thrive, ... ORPHA:90652
Spondyloepiphyseal Dysplasia Congenita
Growth delay, Glossoptosis, Disproportionate short-trunk short stature, Cleft palate ORPHA:94068
Glucagonoma
Gastrointestinal hemorrhage, Intestinal obstruction, Anorexia, Weight loss, Abnormal gastrointest... ORPHA:97280
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Protruding tongue, Dysphagia, Macroglossia, Gastroesophageal reflux, Decreased body weight, Open ... ORPHA:258
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Growth delay, Fat malabsorptio... ORPHA:731
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Short stature, Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Attention deficit ... OMIM:616975
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Esophageal varix, Growth delay, Gastric ulcer, Abnormal temper tantrums, Delayed puberty ORPHA:2072
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage ORPHA:774
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Rhizomelia, Short st... OMIM:180700
Peroxisome Biogenesis Disorder 1A (Zellweger)
Protruding tongue, High, narrow palate, Macroglossia, High palate, Dysphagia, Failure to thrive OMIM:214100
Hallermann-Streiff Syndrome
Natal tooth, Proportionate short stature, Abnormality of the dentition, High, narrow palate, Supe... ORPHA:2108
Joubert Syndrome 1
Hyperactivity, Protruding tongue, Aggressive behavior, Macroglossia, Triangular-shaped open mouth... OMIM:213300
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Tongue atrophy ORPHA:101085
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Gastroesophageal... OMIM:619777
Marshall-Smith Syndrome
Eclabion, Irregular dentition, Short stature, Pyloric stenosis, Gingival overgrowth, Anteriorly p... OMIM:602535
Charcot-Marie-Tooth Disease Type 4C
Difficulty in tongue movements, Tongue atrophy, Failure to thrive, Tongue fasciculations ORPHA:99949
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft soft palate, Impulsiv... OMIM:619503
Wilson Disease
Hepatocellular carcinoma, Esophageal varix, Dysphagia OMIM:277900
Autosomal Dominant Robinow Syndrome
Severe short stature, Short stature, Median cleft lip and palate, Open bite, High, narrow palate,... ORPHA:3107
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Cleft lip, Tracheoesophageal fistula, Cleft palate, N... OMIM:265380
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Tics, Short philtrum, Compulsive behaviors, High palate, Abnormal repetitive... OMIM:619475
Frontorhiny
Bifid tongue, Cleft palate ORPHA:391474
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Short stature, Dental crowding, Gingival ov... OMIM:268310
Pallister-Hall Syndrome
Natal tooth, Short stature, Cleft upper lip, Cleft palate, Anteriorly placed anus, Neonatal death... OMIM:146510
Stickler Syndrome
Short stature, Abnormal dental enamel morphology, Cachexia, Cleft upper lip, Open bite, Slender b... ORPHA:828
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Dental crowding, Cleft hard p... OMIM:300990
Stuve-Wiedemann Syndrome 1
Pursed lips, Short stature, Carious teeth, Thin vermilion border, Smooth tongue, Dysphagia OMIM:601559
Lenz-Majewski Hyperostotic Dwarfism
Short stature, Abnormality of the dentition, Cleft palate, Anteriorly placed anus, Intrauterine g... OMIM:151050
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
Congenital Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93400
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Short stature, Hypoplastic p... OMIM:309580
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Growth delay, Stomatitis, Intrauterine growth retardation, Failure to thrive, Glossitis, Smooth p... ORPHA:79282
Vater/Vacterl Association
Postnatal growth retardation, Esophageal atresia, Tracheoesophageal fistula, Intrauterine growth ... OMIM:192350
Caroli Syndrome
Melena, Cholangiocarcinoma, Esophageal varix, Hematemesis ORPHA:480520
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix ORPHA:309854
Achondrogenesis, Type Ia
Stillbirth, Disproportionate short-trunk short stature, Protruding tongue OMIM:200600
Smith-Lemli-Opitz Syndrome
Hyperactivity, Short stature, Dental crowding, Aganglionic megacolon, Aggressive behavior, Intest... OMIM:270400
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Oral leukoplakia OMIM:615735
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Abnormal oral mucosa morphology, Esophageal stricture, Gastrointestinal i... ORPHA:79404
Dyskeratosis Congenita, X-Linked
Short stature, Carious teeth, Esophageal stricture, Intrauterine growth retardation, Premature lo... OMIM:305000
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Short stature, Cleft palate, Downturned corners of mouth, Intrauterine growth retardation, Ankylo... ORPHA:488642
Cousin Syndrome
Rhizomelia, Disproportionate short stature, Alveolar ridge overgrowth, Cleft palate, Microglossia OMIM:260660
Congenital Tracheomalacia
Esophageal atresia, Failure to thrive, Gastroesophageal reflux, Tracheoesophageal fistula ORPHA:95430
Yunis-Varon Syndrome
Short stature, Premature loss of primary teeth, Postnatal growth retardation, High, narrow palate... ORPHA:3472
Bilateral Perisylvian Polymicrogyria
Protruding tongue, Pseudobulbar paralysis, Gastroesophageal reflux, Dysphagia, Intrauterine growt... ORPHA:98889
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Short stature, Small for gestational age, Protruding tongue, High, narr... OMIM:612289
Agel Amyloidosis
Tongue atrophy, Xerostomia ORPHA:85448
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia OMIM:263520
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Short stature, Obesity, Downturned corners of mouth, Glossoptosis, Macr... ORPHA:444077
Degcags Syndrome
Jejunal atresia, Small for gestational age, Protruding tongue, Oral-pharyngeal dysphagia, Pyloric... OMIM:619488
Meckel Syndrome, Type 1
Anal atresia, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, Cle... OMIM:249000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Esophageal atresia, Ectopic anus, Disproportionate short-limb short stature, Lon... ORPHA:93271
Blomstrand Lethal Chondrodysplasia
Natal tooth, Rhizomelia, Protruding tongue, Long philtrum, Neonatal short-limb short stature ORPHA:50945
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... ORPHA:2388
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula ORPHA:69085
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... ORPHA:2729
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abnormal tongue morphology, Neoplasm of the liver, Thick vermilion border,... ORPHA:653
Orofaciodigital Syndrome Xiv
Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasia of the epiglottis, Clef... OMIM:615948
Microsporidiosis
Cachexia, Glossitis, Anorexia, Weight loss ORPHA:2552
Charge Syndrome
Anal stenosis, Cleft upper lip, Postnatal growth retardation, Esophageal atresia, Tracheoesophage... OMIM:214800
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle... ORPHA:434179
Viss Syndrome
Chronic gastritis, Failure to thrive, Short stature, Duodenitis, Intestinal malrotation, Cleft so... OMIM:619472
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Short stature, Carious teeth, Downturned corners of mouth,... OMIM:620186
Down Syndrome
Short stature, Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal at... OMIM:190685
Chilton-Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Short stature, Aggressive behavior, Agenesis of incisor, Wide mouth, Se... OMIM:619841
Biliary, Renal, Neurologic, And Skeletal Syndrome
Short stature, Esophageal varix, Everted lower lip vermilion, Gastroesophageal reflux, Neonatal d... OMIM:619534
Fraser Syndrome
Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, Ectopic an... ORPHA:2052
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Neuroocular Syndrome
Short stature, Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spac... OMIM:619539
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Short stature, Smooth tongue, Abnormality of the dentition ORPHA:3206
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue ORPHA:564
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... ORPHA:740
Plague
Chapped lip, Anorexia, Hematemesis, Enterocolitis, Inflammation of the large intestine, Glossitis ORPHA:707
Mowat-Wilson Syndrome
Dental crowding, Cleft hard palate, Gastrointestinal dysmotility, Widely spaced teeth, Abnormal r... ORPHA:2152
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Increased body weight, Neoplasm of the rectum, Abdo... ORPHA:1359
Kawasaki Disease
Glossitis, Cheilitis ORPHA:2331
Pallister-Hall Syndrome
Natal tooth, Short stature, Accessory oral frenulum, Large for gestational age, Cleft lip, Paroxy... ORPHA:672
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Short stature, Dental crowding, Aganglionic megacolon, Abnormal dental... ORPHA:261537
Congenital Disorder Of Glycosylation, Type Iiw
Gastroesophageal reflux, Supernumerary tooth, Failure to thrive, Ankyloglossia OMIM:619525
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Intestinal malrotation, Submucous cleft lip, Dental malocclusio... OMIM:312870
Microphthalmia, Syndromic 6
Cleft palate, High palate, Microglossia, Failure to thrive, Bifid uvula OMIM:607932
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Delayed eruption of teeth, Short stature, Dental crowding, Aganglionic megacolon, Abnormal dental... ORPHA:261552
Alström Syndrome
Abnormality of dental color, Short stature, Esophageal varix, Obesity, Gingivitis, Tooth agenesis... 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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