Gene Summary

Name:
golgi autoantigen, golgin subfamily b, macrogolgin 1
Synonyms:
Giantin,  C130074L01Rik,  F730017E11Rik,  6330407A06Rik,  Gm6840

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Golgb1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Golgb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syngnathia
Cleft palate OMIM:119550
Torus Palatinus And Torus Mandibularis
Abnormality of the mouth, Torus palatinus OMIM:189700
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
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
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Cleft palate OMIM:260150
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Macrosomia With Microphthalmia, Lethal
Median cleft palate OMIM:248110
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft lip, Cleft palate OMIM:300263
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Nemaline Myopathy 9
High palate, Cleft palate OMIM:615731
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Sprengel Deformity
Cleft palate ORPHA:3181
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Parc Syndrome
Cleft palate OMIM:600331
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Mental Retardation, Autosomal Recessive 14
Narrow palate OMIM:614020
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip ORPHA:1991
Poirier-Bienvenu Neurodevelopmental Syndrome
Protruding tongue, Downturned corners of mouth, Smooth philtrum, Open mouth OMIM:618732
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:601420
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft lip OMIM:174300
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Hartnup Disorder
Glossitis OMIM:234500
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion... OMIM:226440
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Glossoptosis, Mandibular... OMIM:614669
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Glossoptosis, Cleft palate ORPHA:166100
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Burning Mouth Syndrome
Tongue pain, Parageusia, Xerostomia, Abnormality of the gingiva, Abnormality of taste sensation, ... ORPHA:353253
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate OMIM:223200
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Cleft palate ORPHA:2015
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Everted lower lip vermilion, Thick vermilion border, Furrowed tongue, Gingival overgrowth, Oral s... ORPHA:966
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate OMIM:616898
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Parietal Foramina 1
Cleft upper lip, Cleft palate OMIM:168500
16P11.2P12.2 Microduplication Syndrome
Cleft palate ORPHA:261204
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Macroglossia
Macroglossia OMIM:153630
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate OMIM:183700
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft upper lip, Cleft palate OMIM:120433
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Normokalemic Periodic Paralysis
Abnormality of the tongue OMIM:170600
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Cleft Lip/Palate
Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de... ORPHA:199306
Adducted Thumbs Syndrome
High palate, High, narrow palate, Velopharyngeal insufficiency, Cleft palate OMIM:201550
Mesomelic Limb Shortening And Bowing
Cleft palate OMIM:249710
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Cleft palate OMIM:241850
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Diprosopus
Non-midline cleft lip, Cleft palate ORPHA:1681
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Agan... ORPHA:2919
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia OMIM:241310
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Thomas Syndrome
Cleft upper lip, Cleft palate ORPHA:3316
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc... OMIM:602483
Rosselli-Gulienetti Syndrome
Abnormality of the philtrum, Anodontia, Hypodontia, Cleft upper lip, Cleft palate, Microdontia OMIM:225000
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Cleft palate ORPHA:85273
Tetraamelia Syndrome 2
Ankyloglossia, Glossoptosis, Bilateral cleft lip OMIM:618021
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Cleft palate ORPHA:2521
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Hypoglossia With Situs Inversus
High palate, Microglossia, Narrow mouth, Hypodontia OMIM:612776
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft soft palate, Bifid uvula, Cleft palate ORPHA:2736
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Deafness-Craniofacial Syndrome
Short philtrum, Abnormal palate morphology, Abnormality of the dentition, Short lingual frenulum,... ORPHA:3241
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft lip OMIM:155145
Isolated Dandy-Walker Malformation
Cleft palate ORPHA:217
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Intestinal malrotation, Bilateral cleft lip and palate, Cleft upper lip OMIM:601165
Abruzzo-Erickson Syndrome
Cleft palate OMIM:302905
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Pierre-Robin sequence, Cleft palate OMIM:184840
Lipoid Proteinosis
Tongue nodules, Microglossia, Abnormal oral mucosa morphology, Abnormality of the gingiva, High p... ORPHA:530
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Orofaciodigital Syndrome Xi
Cleft palate OMIM:612913
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Increased overbite, Cleft lip, Cleft... OMIM:618761
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Smooth philtrum, Cleft palate OMIM:611867
Whistling Face Syndrome, Recessive Form
Long philtrum, Narrow mouth, Microglossia, High palate, Whistling appearance OMIM:277720
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft lip, Cleft palate ORPHA:2476
Microphthalmia, Syndromic 8
Oral cleft, Widely-spaced maxillary central incisors, Cleft upper lip, Cleft palate OMIM:601349
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia ORPHA:3201
Agnathia-Otocephaly Complex
Microglossia, Narrow mouth, Aglossia, Cleft palate OMIM:202650
Bamforth-Lazarus Syndrome
Cleft palate ORPHA:1226
Stickler Syndrome Type 2
Cleft palate ORPHA:90654
Childhood Apraxia Of Speech
High, narrow palate, Drooling, Submucous cleft hard palate ORPHA:209908
Split hand/foot malformation 1 (SHFM1)
Median cleft lip, Cleft palate DECIPHER:46
Plummer-Vinson Syndrome
Glossitis, Narrow mouth, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Tongue atrophy ORPHA:54028
Hemifacial Microsomia With Radial Defects
Oral cleft, Cleft palate, Non-midline cleft lip, Short mandibular rami OMIM:141400
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Tooth malposition, Everted lower lip vermilion, Furrowed tongue, High palate ORPHA:1387
Lymphatic Malformation 5
Cleft palate OMIM:153200
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Mandibular condyle aplasia, Hamart... ORPHA:137888
Coffin-Siris Syndrome 11
Downturned corners of mouth, Wide mouth, Esophageal atresia, Bifid uvula, High palate, Cleft soft... OMIM:618779
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Orofaciodigital Syndrome Iv
Tongue nodules, Hamartoma of tongue, Lobulated tongue, Cleft palate, High palate, Accessory oral ... OMIM:258860
Treacher Collins Syndrome 3
Cleft palate OMIM:248390
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate OMIM:618356
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Cleft palate OMIM:246560
Treacher Collins Syndrome 2
Cleft palate OMIM:613717
Orofaciodigital Syndrome Vi
Tongue nodules, Cleft upper lip, Cleft palate, High palate, Accessory oral frenulum OMIM:277170
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cleft palate OMIM:614880
Pallister-Hall-Like Syndrome
Microglossia, Median cleft lip, Cleft palate OMIM:241800
Hypoglossia-Hypodactylia
Microglossia, Narrow mouth, Aglossia OMIM:103300
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Cleft palate ORPHA:2010
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pierre-Robin sequence, Cleft palate OMIM:602196
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Cleft palate, High palate, Tooth agenesis ORPHA:1135
Stickler Syndrome, Type Ii
Bifid uvula, High, narrow palate, Pierre-Robin sequence, Cleft palate OMIM:604841
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:614838
Coloboma Of Macula And Skeletal Anomalies
Cleft palate OMIM:216800
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Anodontia, Hypodontia, Cleft upper lip, Cleft palate, Microdontia OMIM:225060
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Glossoptosis, Cl... OMIM:616367
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio... OMIM:300602
Trisomy 8Q
Everted lower lip vermilion, Non-midline cleft lip, Oral cleft, Bifid tongue, Cleft palate, Abnor... ORPHA:1752
Genitopalatocardiac Syndrome
Cleft upper lip, Cleft palate OMIM:231060
Holoprosencephaly 11
Cleft lip, Cleft palate OMIM:614226
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Dystonia, Juvenile-Onset
Cleft upper lip, Cleft palate OMIM:607371
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio... OMIM:300431
Melkersson-Rosenthal Syndrome
Furrowed tongue, Macroglossia, Cheilitis ORPHA:2483
Pai Syndrome
Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Cleft palate ORPHA:1993
Weyers Ulnar Ray/Oligodactyly Syndrome
Solitary median maxillary central incisor, High palate, Cleft upper lip, Cleft palate OMIM:602418
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Dental crowding, Abnormality of the dentition, Thin upper lip vermilion, Triangula... OMIM:616331
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth OMIM:227270
Holzgreve Syndrome
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Birk-Barel Syndrome
Short philtrum, Submucous cleft soft palate, Tented upper lip vermilion, Bifid uvula, High palate OMIM:612292
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Protruding tongue, Macroglossia, Cleft palate OMIM:612938
Catel-Manzke Syndrome
High palate, Glossoptosis, Cleft upper lip, Cleft palate OMIM:616145
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate ORPHA:957
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy OMIM:614678
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth ORPHA:1839
Hydrolethalus Syndrome 2
Cleft palate OMIM:614120
Limb-Mammary Syndrome
Bifid uvula, Cleft palate, Hypodontia OMIM:603543
Isotretinoin Embryopathy-Like Syndrome
Cleft palate OMIM:243440
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Diastema, Smooth philtrum, Thin upper lip vermilion, Furrowed tongue, High palate, High, narrow p... OMIM:300534
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Abnormality of the mouth, Aplasia/Hypoplasia of the tongue, Abnormality ... ORPHA:2759
Carey-Fineman-Ziter Syndrome
Long philtrum, Thin vermilion border, Pierre-Robin sequence, Aplasia/Hypoplasia of the tongue, Gl... ORPHA:1358
Carey-Fineman-Ziter Syndrome
Pierre-Robin sequence, Microglossia, Glossoptosis, Cleft palate OMIM:254940
Mohr Syndrome
Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Bifid tongue, Lobulated ton... OMIM:252100
Cronkhite-Canada Syndrome
Furrowed tongue, Stomach cancer, Intestinal polyposis, Hamartomatous polyposis, Malabsorption, Hy... ORPHA:2930
Orofaciodigital Syndrome Type 3
Hamartoma of tongue, Abnormality of the dentition, Irregular dentition, Lobulated tongue, Bifid u... ORPHA:2752
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, Microglossia, Cleft palate, High palate, Microdontia ORPHA:1307
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue, Drooling OMIM:614325
Seckel Syndrome 2
Microdontia, Microglossia OMIM:606744
Lelis Syndrome
Furrowed tongue, Carious teeth, Abnormality of the mouth, Hypodontia ORPHA:140936
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Supernumerary tooth, Bifid uvula, High palate, Thick lower lip... OMIM:617412
Down Syndrome
Macroglossia, Narrow palate, Narrow mouth, Downturned corners of mouth, Open mouth, Aganglionic m... ORPHA:870
Schisis Association
Unilateral cleft lip, Anal atresia, Tracheoesophageal fistula, Cleft palate ORPHA:63862
Arthrogryposis, Distal, Type 5D
Furrowed tongue, Cleft palate OMIM:615065
Orofaciodigital Syndrome X
Cleft palate OMIM:165590
Mcdonough Syndrome
Furrowed tongue, Dental malocclusion, Short philtrum OMIM:248950
Psoriasis 14, Pustular
Geographic tongue, Furrowed tongue OMIM:614204
Hypoglossia-Hypodactyly Syndrome
Narrow mouth, Aplasia/Hypoplasia of the tongue, Jejunal atresia, Hypodontia, Anal atresia, Cleft ... ORPHA:989
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Narrow palate, Dental crowding ORPHA:313892
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypodontia, Microglossia, Dental malocclusion OMIM:253250
Pachyonychia Congenita 3
Oral leukoplakia, Gingivitis, Chapped lip, Furrowed tongue OMIM:615726
Meckel Syndrome, Type 5
Cleft upper lip, Cleft palate OMIM:611561
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Downturned corners of mouth ORPHA:531151
Acromegaloid Facial Appearance Syndrome
Abnormality of the tongue, Macroglossia, Everted lower lip vermilion, Abnormal lip morphology, Gi... ORPHA:965
Tarp Syndrome
High palate, Cleft palate, Glossoptosis, Tongue nodules OMIM:311900
Faciocardiorenal Syndrome
Cleft palate, Smooth philtrum, Narrow mouth, Hypodontia ORPHA:1973
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Smooth philtrum OMIM:614526
Chand Syndrome
Commissural lip pit, Agenesis of permanent teeth, Agenesis of maxillary incisor, Bifid tongue, Cl... ORPHA:1401
Spinocerebellar Ataxia 36
Tongue fasciculations, Tongue atrophy OMIM:614153
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Protruding tongue, Wide mouth ORPHA:98795
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Hartnup Disease
Gingivitis, Malabsorption, Glossitis ORPHA:2116
Rapp-Hodgkin Syndrome
Narrow mouth, Small, conical teeth, Hypodontia, Bifid uvula, Cleft upper lip, Cleft palate, Conic... OMIM:129400
Icf Syndrome
Protruding tongue, Macroglossia, Malabsorption ORPHA:2268
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Protruding tongue, Macroglossia, Malabsorption OMIM:242860
Ritscher-Schinzel Syndrome 2
Protruding tongue, Short philtrum OMIM:300963
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, High palate, Glossitis, Stomatitis OMIM:277380
Developmental And Epileptic Encephalopathy 80
Long philtrum, Smooth philtrum, Wide mouth, Tented upper lip vermilion, Protruding tongue, High p... OMIM:618580
Oculopalatocerebral Syndrome
Cleft palate OMIM:257910
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Protruding tongue, Drooling, Wide mouth ORPHA:411511
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Hypoplasia of teeth, Dental crowding ORPHA:2457
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Glossoptosis, Cleft palate ORPHA:1427
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Abnormality of canine, Pierre-Robin sequence, Everted l... ORPHA:364577
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the tongue, Carious teeth, Abnormality of the dentition, Hypodontia, Abnormal oral... ORPHA:659
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Stomatitis, Cleft palate ORPHA:79284
Angelman Syndrome
Macroglossia, Drooling, Wide mouth, Protruding tongue, Widely spaced teeth OMIM:105830
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Tongue atrophy ORPHA:276198
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Open mouth, Everted lower lip vermilion, Diastema, Wide mouth, Abnormality... OMIM:212066
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Tongue nodules, Bifid tongue, Lobu... OMIM:311200
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Long philtrum, Macroglossia, Dental crowding, Protruding tongue, High palate OMIM:141750
Kleefstra Syndrome 1
Macroglossia, Everted lower lip vermilion, Natal tooth, Persistence of primary teeth, Protruding ... OMIM:610253
Moebius Syndrome
Open mouth, Everted lower lip vermilion, Aplasia/Hypoplasia of the tongue, Tooth agenesis, Cleft ... ORPHA:570
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Protein-losing enteropathy, Xerostomia, Hamartomatous polyposis, Malabsorption OMIM:175500
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Cleft palate ORPHA:1790
Down Syndrome
Macroglossia, Aganglionic megacolon, Protruding tongue, Anal atresia, Duodenal stenosis OMIM:190685
Cowden Syndrome 5
Narrow mouth, Furrowed tongue, Colonic diverticula, High palate, Hamartomatous polyposis OMIM:615108
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Protruding tongue, Wide mouth, Gingival overgrowth OMIM:618797
Marshall-Smith Syndrome
Protruding tongue, Open mouth, Gingival overgrowth ORPHA:561
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Everted lower lip vermilion, Smooth philtrum ORPHA:324410
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Abnormali... ORPHA:1452
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Natal tooth, Wide mouth, Protruding tongue, Gingival overgrowth,... OMIM:259775
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Glossoptosis, Cleft palate ORPHA:436003
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Anal atresia, Bifid tongue, Cleft lip, Lobulated tongue, Cleft palate OMIM:616300
Acrodermatitis Enteropathica
Abnormality of the tongue, Glossitis, Cheilitis, Furrowed tongue, Malabsorption ORPHA:37
Cowden Syndrome 6
Narrow mouth, Furrowed tongue, Colonic diverticula, High palate, Hamartomatous polyposis OMIM:615109
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Ring Chromosome 22 Syndrome
Protruding tongue, Thick vermilion border ORPHA:1446
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Narrow mouth ORPHA:990
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Intestinal malrotation, Anal atresia, Bifid tongue, Cleft upper lip, Cleft p... OMIM:613091
Hereditary Folate Malabsorption
Glossitis, Cheilitis ORPHA:90045
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Tongue atrophy OMIM:211530
Robinow Syndrome, Autosomal Dominant 3
Long philtrum, Agenesis of permanent teeth, Downturned corners of mouth, Triangular mouth, Bifid ... OMIM:616894
Orofaciodigital Syndrome Type 1
Open bite, Abnormal dental enamel morphology, Accessory oral frenulum, Tongue nodules, Odontogeni... ORPHA:2750
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Abnormality of dental morphology, Bra... ORPHA:861
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Tongue nodules, Hamartoma of tongue, Lobulated tongue, Cle... ORPHA:2754
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Long philtrum, Gingival overgrowth OMIM:619179
Odontoonychodermal Dysplasia
Smooth tongue, Agenesis of permanent teeth, Abnormality of primary teeth, Hypodontia OMIM:257980
Acro-Renal-Mandibular Syndrome
Short philtrum, Aplasia/Hypoplasia of the tongue, Oral cleft, High palate, Tracheoesophageal fistula ORPHA:958
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Protruding tongue, Drooling, Wide mouth ORPHA:98794
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Macroglossia, Oligodontia, Downturned corners of mouth, Open mouth, Branchial anomaly, Furrowed t... ORPHA:453499
X-Linked Agammaglobulinemia
Malabsorption, Glossoptosis ORPHA:47
Frontorhiny
Bifid tongue, Cleft palate ORPHA:391474
Cohen Syndrome
Short philtrum, Open mouth, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Tooth... ORPHA:193
Amish Lethal Microcephaly
Cleft soft palate ORPHA:99742
Juvenile Sialidosis Type 2
Protruding tongue, Gingival overgrowth ORPHA:93399
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis ORPHA:2031
Cerebrocostomandibular Syndrome
Long philtrum, Anal stenosis, Abnormality of the dentition, Glossoptosis, Short hard palate, High... OMIM:117650
Myopathy, Myofibrillar, 7
Tongue atrophy OMIM:617114
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Macroglossia, Open mouth, Downturned corners of mouth, Branchial anomaly, High, narrow... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Macroglossia, Open mouth, Downturned corners of mouth, Branchial anomaly, High, narrow... ORPHA:352665
Cowden Syndrome 1
Narrow mouth, Furrowed tongue, Colonic diverticula, High palate, Hamartomatous polyposis OMIM:158350
Cerebrocostomandibular Syndrome
Glossoptosis, Short hard palate, Cleft palate ORPHA:1393
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Furrowed tongue, Cleft p... ORPHA:464738
Rabson-Mendenhall Syndrome
Macroglossia, Dental crowding, Abnormality of the dentition, Furrowed tongue, Gingival overgrowth... ORPHA:769
Kleefstra Syndrome Due To 9Q34 Microdeletion
Protruding tongue, Macroglossia, Everted lower lip vermilion, Downturned corners of mouth ORPHA:96147
Otopalatodigital Syndrome Type 2
Oligodontia, Narrow mouth, Pierre-Robin sequence, Anodontia, Glossoptosis, Cleft palate ORPHA:90652
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Submucous cleft soft palate, Non-mi... ORPHA:1071
Robinow Syndrome, Autosomal Dominant 1
Long philtrum, Macroglossia, Delayed eruption of teeth, Narrow palate, Downturned corners of mout... OMIM:180700
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Microglossia, Cleft palate ORPHA:2839
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Protruding tongue, U-Shaped upper lip vermilion, Thick lower lip vermilion, Widely-... OMIM:301040
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Cleft palate ORPHA:94068
Robinow Syndrome
Long philtrum, Ankyloglossia, Tooth malposition, Dental crowding, Marked delay in eruption of per... ORPHA:97360
Hereditary Acrokeratotic Poikiloderma
Open bite, Oral leukoplakia, Ankyloglossia, Narrow mouth, Abnormality of the dentition, Abnormal ... ORPHA:2907
Autosomal Recessive Robinow Syndrome
Open bite, Long philtrum, Ankyloglossia, Short philtrum, Downturned corners of mouth, Abnormal pa... ORPHA:1507
Holoprosencephaly 3
Solitary median maxillary central incisor, Bifid uvula, Cleft lip, Cleft palate OMIM:142945
Congenital Sialidosis Type 2
Protruding tongue, Gingival overgrowth ORPHA:93400
Ramos-Arroyo Syndrome
Long philtrum, Carious teeth, Narrow mouth, Aganglionic megacolon, Xerostomia, Smooth tongue ORPHA:1051
Congenital Disorder Of Glycosylation, Type Iie
Protruding tongue, Smooth philtrum, Narrow mouth, Thick vermilion border OMIM:608779
Hallermann-Streiff Syndrome
Abnormality of the tongue, Narrow mouth, Natal tooth, Abnormality of the dentition, Glossoptosis,... ORPHA:2108
Ectodermal Dysplasia-Skin Fragility Syndrome
Carious teeth, Abnormal tongue morphology, Chapped lip, Abnormality of dental morphology, Anoperi... ORPHA:158668
Robinow Syndrome, Autosomal Recessive 1
Long philtrum, Macroglossia, Dental crowding, Thin upper lip vermilion, Triangular mouth, Bifid t... OMIM:268310
Cousin Syndrome
Alveolar ridge overgrowth, Microglossia, Cleft palate OMIM:260660
Joubert Syndrome 1
Protruding tongue, Triangular-shaped open mouth, Macroglossia OMIM:213300
Kid Syndrome
Abnormality of the tongue, Delayed eruption of teeth, Carious teeth, Oral leukoplakia, Aganglioni... ORPHA:477
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, High palate, High, narrow palate, Protruding tongue OMIM:214100
Tarp Syndrome
Abnormal duodenum morphology, Tongue nodules, Pierre-Robin sequence, Glossoptosis, Cleft palate, ... ORPHA:2886
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Oral leukoplakia OMIM:148210
Marshall-Smith Syndrome
Short philtrum, Irregular dentition, Glossoptosis, Gingival overgrowth, Short mandibular rami, Ec... OMIM:602535
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Narrow palate, Deep philtrum, Long upper lip, Protruding tongue, Gingival o... ORPHA:99843
Orofaciodigital Syndrome Xiv
Natal tooth, Hamartoma of tongue, Aplasia of the epiglottis, Bifid tongue, Cleft lip, Lobulated t... OMIM:615948
Autosomal Dominant Robinow Syndrome
Open bite, Long philtrum, Oligodontia, Median cleft lip and palate, Short philtrum, Downturned co... ORPHA:3107
Orofaciodigital Syndrome Type 10
Long philtrum, Cleft soft palate, Accessory oral frenulum ORPHA:2756
Gracile Bone Dysplasia
Ankyloglossia OMIM:602361
Stuve-Wiedemann Syndrome
Pursed lips, Abnormal dental enamel morphology, Smooth tongue OMIM:601559
Angelman Syndrome
Widely spaced teeth, Protruding tongue, Drooling, Wide mouth ORPHA:72
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Short philtrum, Smooth philtrum ORPHA:293725
Distal 22Q11.2 Microdeletion Syndrome
Ankyloglossia, Narrow mouth, Branchial fistula, Smooth philtrum, Thin upper lip vermilion, Cleft ... ORPHA:261330
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy ORPHA:101085
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hamartoma of tongue, Intestinal malrotation, Microglossia, Cleft palate, Median cleft lip OMIM:263520
Agel Amyloidosis
Xerostomia, Tongue atrophy ORPHA:85448
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Narrow mouth, Dental crowding, Thin upper lip vermilion, Bifid uvula, ... OMIM:300990
Orofaciodigital Syndrome Type 14
Hamartoma of tongue, Aplasia of the epiglottis, Bifid tongue, Supernumerary tooth, Cleft palate, ... ORPHA:434179
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Natal tooth, Hamartoma of tongue, Intestinal malrotation, Lobulated ... OMIM:269860
Giant Cell Arteritis
Glossitis, Impaired mastication ORPHA:397
Autosomal Dominant Cerebellar Ataxia
Tongue fasciculations, Tongue atrophy ORPHA:99
Loeys-Dietz Syndrome 5
Hiatus hernia, Smooth philtrum, Tented upper lip vermilion, Cleft palate, Bifid uvula, High palat... OMIM:615582
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Protruding tongue, Macroglossia, Impaired mastication, Open mouth ORPHA:258
Stickler Syndrome
Open bite, Long philtrum, Abnormal dental enamel morphology, Macroglossia, Tooth agenesis, Glosso... ORPHA:828
Limb-Mammary Syndrome
Submucous cleft soft palate, Hypodontia, Cleft lip, Cleft palate, Bifid uvula, Cleft hard palate ORPHA:69085
Fetal Encasement Syndrome
Protruding tongue OMIM:613630
Treacher Collins Syndrome 1
Narrow mouth, Wide mouth, Abnormal parotid gland morphology, Cleft palate, Cleft soft palate OMIM:154500
Kinsship Syndrome
Ankyloglossia, Short philtrum, Downturned corners of mouth, Smooth philtrum, Wide mouth, Thin upp... OMIM:619297
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Macroglossia, Drooling, Open mouth, Thick lower lip vermilion, Wide mouth, Tented upper lip vermi... OMIM:309580
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Smooth philtrum, Furrowed tongue, Duodenal atresia, Cleft lip, Broad alveolar ridges, High palate OMIM:616975
Smith-Lemli-Opitz Syndrome
Long philtrum, Abnormal dental enamel morphology, Abnormality of dental morphology, Aganglionic m... ORPHA:818
Opitz Gbbb Syndrome
Long philtrum, Ankyloglossia, Natal tooth, Hypodontia, Ectopic anus, Anal atresia, Cleft lip, Cle... ORPHA:2745
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Ankyloglossia, Carious teeth, Esophageal stenosis, Narrow mouth, Abnormal esophagus morphology, E... ORPHA:89842
Blomstrand Lethal Chondrodysplasia
Protruding tongue, Long philtrum, Natal tooth ORPHA:50945
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Smooth tongue, Oral mucosal blisters ORPHA:79396
Pallister-Hall Syndrome
Natal tooth, Microglossia, Anal atresia, Cleft upper lip, Cleft palate, Anteriorly placed anus OMIM:146510
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ankyloglossia, Downturned corners of mouth, Cleft palate ORPHA:488642
Meckel Syndrome, Type 1
Natal tooth, Intestinal malrotation, Wide mouth, Anal atresia, Lobulated tongue, Cleft palate, Cl... OMIM:249000
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Aganglionic megacolon, Thick vermilion border, Ganglioneuromatosis ORPHA:653
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula OMIM:601374
Distal Monosomy 12Q
Long philtrum, Esophageal atresia, Smooth philtrum, Duodenal atresia, Microglossia, Supernumerary... ORPHA:96149
1Q21.1 Microdeletion Syndrome
Ankyloglossia, High palate, Long philtrum ORPHA:250989
Meckel Syndrome
Furrowed tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:564
Cowden Syndrome
Macroglossia, Furrowed tongue, Colorectal polyposis, High palate, Hamartomatous polyposis ORPHA:201
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Glossitis, Smooth philtrum ORPHA:79282
Distal Monosomy 15Q
Short philtrum, Abnormality of the dentition, Thin upper lip vermilion, Bifid tongue, Cleft palate ORPHA:1596
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Drooling, Difficulty in tongue movements, Tongue atrophy ORPHA:99949
Fontaine Progeroid Syndrome
Long philtrum, Oligodontia, Narrow mouth, Everted lower lip vermilion, High, narrow palate, Smoot... OMIM:612289
Fraser Syndrome
Anal stenosis, Dental crowding, Oral cleft, Ectopic anus, Anal atresia, Bifid tongue, Cleft upper... ORPHA:2052
Glucagonoma
Intestinal obstruction, Glossitis, Stomatitis, Steatorrhea ORPHA:97280
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Long philtrum, Macroglossia, Downturned corners of mouth, Thin upper lip vermilion, Glossoptosis,... ORPHA:444077
Okamoto Syndrome
Open bite, Downturned corners of mouth, Open mouth, Anal stenosis, Intestinal malrotation, Tented... ORPHA:2729
Lenz-Majewski Hyperostotic Dwarfism
Anteriorly placed anus, Microglossia, Abnormality of the dentition OMIM:151050
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Cleft soft palate, Submucous cleft soft palate ORPHA:2282
Yunis-Varon Syndrome
Thin vermilion border, Short philtrum, Abnormality of dental structure, Gingival recession, Prema... ORPHA:3472
Smith-Lemli-Opitz Syndrome
Long philtrum, Dental crowding, Aganglionic megacolon, Intestinal malrotation, Microglossia, Broa... OMIM:270400
Bilateral Perisylvian Polymicrogyria
Protruding tongue, Drooling ORPHA:98889
Hutchinson-Gilford Progeria Syndrome
Ankyloglossia, Thin vermilion border, Delayed eruption of teeth, Impacted tooth, Narrow mouth, De... ORPHA:740
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Ankyloglossia, Carious teeth, Narrow mouth, Erosion of oral mucosa, Oral mucosal blisters, Esopha... ORPHA:79408
Microsporidiosis
Glossitis ORPHA:2552
Stüve-Wiedemann Syndrome
Smooth tongue, Abnormality of the dentition ORPHA:3206
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Smooth philtrum, Downturned corners of mouth OMIM:619321
Kawasaki Disease
Glossitis, Cheilitis ORPHA:2331
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Long philtrum, Esophageal atresia, Ectopic anus, Anal atresia, Bifid tongue, Cleft upper lip ORPHA:93271
Blackfan-Diamond Anemia
High palate, Adenocarcinoma of the colon, Cleft soft palate, Cleft lip ORPHA:124
Plague
Inflammation of the large intestine, Chapped lip, Glossitis, Enterocolitis ORPHA:707
Microphthalmia, Syndromic 6
Bifid uvula, High palate, Microglossia, Cleft palate OMIM:607932
Pallister-Hall Syndrome
Natal tooth, Microglossia, Anal atresia, Cleft lip, Cleft palate, Bifid uvula, Accessory oral fre... ORPHA:672
Choreoacanthocytosis
Protruding tongue ORPHA:2388
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Short philtrum, Tooth malposition, Open mouth, Dental crowding, Abnorm... ORPHA:261537
Mowat-Wilson Syndrome
Delayed eruption of teeth, Tooth malposition, Open mouth, Dental crowding, Abnormality of dental ... ORPHA:2152

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 Golgb1

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 Golgb1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Golgb1 regulates protein glycosylation and is crucial for mammalian palate development. Development (Cambridge, England) (May 2016) Golgb1tm1a(EUCOMM)Hmgu PMC4958322

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MGI Allele Allele Type Produced
Golgb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Golgb1tm43528(L1L2_Bact_P) Targeting vectors

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