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Gene: Golgb1 MGI:1099447

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Gene Summary

Name:
golgin B1
Synonyms:
C130074L01Rik,  Giantin,  Gm6840,  6330407A06Rik,  F730017E11Rik

Order Alleles

IMPC Data Collections

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.

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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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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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
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
Poirier-Bienvenu Neurodevelopmental Syndrome
Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth OMIM:618732
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Sprengel Deformity
Cleft palate ORPHA:3181
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Cleft palate OMIM:620457
Parc Syndrome
Cleft palate OMIM:600331
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cleft palate OMIM:300261
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Disorganization, Mouse, Homolog Of
Cleft palate, Cleft upper lip OMIM:223200
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, High pal... OMIM:618106
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Cleft palate ORPHA:2015
16P11.2P12.2 Microduplication Syndrome
Cleft palate ORPHA:261204
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Protruding tongue, Alveolar ridge overgrowth, Thin vermilion border, Cleft palate OMIM:612938
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Mesomelic Limb Shortening And Bowing
Cleft palate OMIM:249710
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man... OMIM:614669
Nemaline Myopathy 9
High palate, Cleft palate OMIM:615731
Gordon Syndrome
High palate, Cleft palate ORPHA:376
Burning Mouth Syndrome
Strawberry tongue, Tongue pain, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa... ORPHA:353253
Adducted Thumbs Syndrome
High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate OMIM:201550
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate OMIM:183700
Catel-Manzke Syndrome
Oral synechia, Glossoptosis, Cleft palate ORPHA:1388
Thomas Syndrome
Cleft palate, Cleft upper lip ORPHA:3316
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:98795
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft of the upper lip, Cleft palate ORPHA:85273
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate ORPHA:1484
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Hartnup Disorder
Glossitis OMIM:234500
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Developmental And Epileptic Encephalopathy 80
Long philtrum, Tented upper lip vermilion, Protruding tongue, Smooth philtrum, High palate, Wide ... OMIM:618580
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Everted lower lip vermilion, Short philtrum, Cleft palate OMIM:616898
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Protruding tongue OMIM:242860
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Angelman Syndrome Due To A Point Mutation
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:411511
Bamforth-Lazarus Syndrome
Cleft palate OMIM:241850
Craniofacial Microsomia 2
Bifid uvula, Submucous cleft palate OMIM:620444
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Isolated Dandy-Walker Malformation
Cleft palate ORPHA:217
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Abruzzo-Erickson Syndrome
Cleft palate OMIM:302905
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Protruding tongue, Everted lower lip vermilion, Macrog... OMIM:610253
Icf Syndrome
Macroglossia, Protruding tongue ORPHA:2268
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Cleft palate ORPHA:1779
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Smooth philtrum, Protruding tongue, Everted lower lip vermilion ORPHA:324410
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gingival overgrowth, Wide mouth, Protruding tongue OMIM:618797
Marshall-Smith Syndrome
Gingival overgrowth, Open mouth, Protruding tongue ORPHA:561
Ring Chromosome 22 Syndrome
Protruding tongue, Thick vermilion border ORPHA:1446
Orofaciodigital Syndrome Xi
Cleft palate OMIM:612913
Diprosopus
Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Cleft... OMIM:618761
Angelman Syndrome
Macroglossia, Wide mouth, Protruding tongue, Widely spaced teeth OMIM:105830
Ritscher-Schinzel Syndrome 2
Short philtrum, High palate, Intestinal malrotation, Protruding tongue OMIM:300963
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Cleft palate, Pierre-Robin sequence OMIM:184840
Parietal Foramina 1
Cleft palate, Cleft upper lip OMIM:168500
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Open mouth, Protruding tongue, Smooth philtrum, Everted lower lip vermilion, High palate OMIM:617804
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Congenital Disorder Of Glycosylation, Type Iia
Long philtrum, Diastema, Macrodontia, Gingival overgrowth, Open mouth, Protruding tongue, Everted... OMIM:212066
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Split hand/foot malformation 1 (SHFM1)
Median cleft upper lip, Cleft palate DECIPHER:46
Microcephaly 26, Primary, Autosomal Dominant
Gingival overgrowth, Protruding tongue, Long philtrum OMIM:619179
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate ORPHA:2736
Hypoglossia With Situs Inversus
Hypodontia, High palate, Microglossia, Narrow mouth OMIM:612776
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Smooth philtrum, Cleft palate OMIM:611867
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion... OMIM:602483
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Microphthalmia, Syndromic 8
Orofacial cleft, Cleft palate, Widely-spaced maxillary central incisors, Cleft upper lip OMIM:601349
Stickler Syndrome Type 2
Cleft palate ORPHA:90654
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Juvenile Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93399
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Bamforth-Lazarus Syndrome
Cleft palate ORPHA:1226
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
Hemifacial Microsomia With Radial Defects
Orofacial cleft, Cleft palate, Non-midline cleft of the upper lip, Short mandibular rami OMIM:141400
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
High palate, Open mouth, Cleft palate OMIM:620021
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid... OMIM:618779
Raine Syndrome
Natal tooth, Gingival overgrowth, Narrow mouth, Protruding tongue, Microdontia, Enamel hypoplasia... OMIM:259775
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:98794
Gm1-Gangliosidosis, Type Ii
Gingival overgrowth, Narrow mouth, Protruding tongue OMIM:230600
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Whistling Face Syndrome, Recessive Form
Whistling appearance, Microglossia, Long philtrum, Narrow mouth, High palate OMIM:277720
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Ectopic anus, Downturned corners of mouth, Cleft palate ORPHA:94066
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S... ORPHA:3241
Down Syndrome
Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Thick low... ORPHA:870
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Cleft palate, Tooth agenesis ORPHA:1135
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Protruding tongue, Everted lower lip vermilion, Downturned corners of mouth ORPHA:96147
Coloboma Of Macula And Skeletal Anomalies
Cleft palate OMIM:216800
Lipoid Proteinosis
Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging... ORPHA:530
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Acrorenal Syndrome
Cleft palate ORPHA:971
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft of the upper lip, Cleft palate ORPHA:2476
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Cleft palate OMIM:246560
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Glossoptosis, Submucous cleft hard palate ORPHA:3201
Fetal Akinesia Deformation Sequence 2
High palate, Tented upper lip vermilion, Cleft palate OMIM:618388
Congenital Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93400
Orofaciodigital Syndrome Xv
Midline notch of upper alveolar ridge, Lobulated tongue OMIM:617127
Orofaciodigital Syndrome Iii
Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules OMIM:258850
Orofaciodigital Syndrome Viii
Median cleft upper lip, High palate, Cleft palate OMIM:300484
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum ORPHA:1387
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Cleft palate, Pierre-Robin sequence OMIM:602196
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Diastema, Thick lower lip vermilion, Protruding tongue, Thick vermilion border, Macroglossia, Wid... OMIM:301040
Tetraamelia Syndrome 2
Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip OMIM:618021
Lymphatic Malformation 5
Cleft palate OMIM:153200
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Bilateral cleft palate OMIM:600776
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:620269
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N... OMIM:620107
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, High palate, Tongue nodules, Cleft palate, Lobulate... OMIM:258860
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal... ORPHA:137888
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Congenital Disorder Of Glycosylation, Type Iie
Smooth philtrum, Narrow mouth, Protruding tongue, Thick vermilion border OMIM:608779
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Cleft palate ORPHA:2010
Braddock-Carey Syndrome 2
Wide mouth, Cleft palate, Pierre-Robin sequence OMIM:619981
Plummer-Vinson Syndrome
Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue atrophy ORPHA:54028
Holoprosencephaly 11
Cleft lip, Cleft palate OMIM:614226
Genitopalatocardiac Syndrome
Cleft palate, Cleft upper lip OMIM:231060
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Macroglossia, High palate, Protruding tongue OMIM:214100
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bifid tongue, Bilateral cleft palate ORPHA:2001
Leukocyte Adhesion Deficiency Type Ii
Gingival overgrowth, Protruding tongue, Deep philtrum, Long upper lip, Narrow palate, Severe peri... ORPHA:99843
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi... OMIM:619736
Angelman Syndrome
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:72
Developmental And Epileptic Encephalopathy 100
Gingival overgrowth, Tented upper lip vermilion, Protruding tongue, Microdontia, Enamel hypoplasi... OMIM:619777
Joubert Syndrome 1
Macroglossia, Triangular-shaped open mouth, Protruding tongue OMIM:213300
Keratoconus Posticus Circumscriptus
Cleft palate, Cleft upper lip OMIM:244600
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Birk-Barel Syndrome
Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum OMIM:612292
Joubert Syndrome 18
Cleft palate, Lobulated tongue OMIM:614815
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Everted lower lip vermilion, Glossoptosis, Cl... OMIM:616367
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Short philtrum, Downturned corners of mouth, Lobulated tongue OMIM:613443
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Cleft palate ORPHA:93946
Trisomy 8Q
Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion, Bifid tongue, Hi... ORPHA:1752
Weyers Ulnar Ray/Oligodactyly Syndrome
Solitary median maxillary central incisor, High palate, Cleft palate, Cleft upper lip OMIM:602418
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Open mouth, Thin upper lip vermilion, High palate, Glossoptosis, Pierre-Robin sequence OMIM:613604
Orofaciodigital Syndrome V
Bifid uvula, Hamartoma of tongue, Ankyloglossia, Thin upper lip vermilion, Median cleft upper lip... OMIM:174300
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Cleft upper lip OMIM:214300
Say Syndrome
Cleft palate OMIM:181180
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi... OMIM:300602
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, High palate, Protruding tongue OMIM:617062
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Protruding tongue ORPHA:258
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate ORPHA:957
Diaphanospondylodysostosis
Cleft palate ORPHA:66637
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft palate, Cleft upper lip OMIM:609654
Pai Syndrome
Median cleft upper lip, Bifid uvula, Abnormal oral frenulum morphology, Cleft palate ORPHA:1993
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:614838
Hypoglossia-Hypodactylia
Aglossia, Microglossia, Narrow mouth OMIM:103300
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Achondrogenesis, Type Ia
Protruding tongue OMIM:200600
Treacher Collins Syndrome 3
Cleft palate OMIM:248390
Anophthalmia Plus Syndrome
Tessier cleft, Non-midline cleft of the upper lip, Cleft palate, Bilateral cleft palate ORPHA:1104
Blomstrand Lethal Chondrodysplasia
Natal tooth, Protruding tongue, Long philtrum ORPHA:50945
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate OMIM:618356
Agnathia-Otocephaly Complex
Aglossia, Microglossia, Narrow mouth, Cleft palate OMIM:202650
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate OMIM:601355
Isotretinoin Embryopathy-Like Syndrome
Cleft palate OMIM:243440
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Cleft palate OMIM:603543
Isotretinoin Syndrome
Cleft palate ORPHA:2305
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate OMIM:613456
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy OMIM:614678
Holzgreve Syndrome
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Esophageal atresia OMIM:614526
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Pallister-Hall-Like Syndrome
Median cleft upper lip, Microglossia, Cleft palate OMIM:241800
Brachycephaly, Trichomegaly, And Developmental Delay
Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b... OMIM:617412
Schisis Association
Anal atresia, Tracheoesophageal fistula, Unilateral cleft lip, Cleft palate ORPHA:63862
Arthrogryposis, Distal, Type 5D
Furrowed tongue, Open mouth, Narrow mouth, Tongue atrophy, Cleft palate OMIM:615065
Hydrolethalus Syndrome 2
Cleft palate OMIM:614120
Melkersson-Rosenthal Syndrome
Furrowed tongue, Macroglossia, Cheilitis ORPHA:2483
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth OMIM:227270
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cleft palate OMIM:614880
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips OMIM:241310
Developmental And Speech Delay Due To Sox5 Deficiency
Dental crowding, Narrow palate, Exaggerated median tongue furrow ORPHA:313892
Aase-Smith Syndrome I
Open mouth, Cleft palate OMIM:147800
Orofaciodigital Syndrome X
Cleft palate OMIM:165590
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth ORPHA:1839
Orofaciodigital Syndrome Type 3
Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Irregular dentition, Lobulated to... ORPHA:2752
Carey-Fineman-Ziter Syndrome
Long philtrum, Aplasia/Hypoplasia of the tongue, Thin vermilion border, High palate, Glossoptosis... ORPHA:1358
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Ankyloglossia, Bilateral cleft palate, Thin upper lip vermilion, Bilateral cleft lip, Enamel hypo... OMIM:618874
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thick lower lip vermilion, Wide mouth, Open mouth, Protruding tongue, Tented upper lip vermilion,... OMIM:309580
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tongue atrophy OMIM:620285
Orofaciodigital Syndrome Ii
Accessory oral frenulum, Agenesis of central incisor, Median cleft upper lip, Bifid tongue, High ... OMIM:252100
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Cleft soft pal... OMIM:616331
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence OMIM:620183
Meckel Syndrome, Type 5
Cleft palate, Cleft upper lip OMIM:611561
Distal Limb Deficiencies-Micrognathia Syndrome
Microglossia, Narrow mouth, Microdontia, High palate, Cleft palate ORPHA:1307
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Faciocardiorenal Syndrome
Smooth philtrum, Hypodontia, Narrow mouth, Cleft palate ORPHA:1973
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, Narrow mouth, Jejunal atresia, Hypodontia, High palate, Anal at... ORPHA:989
Fontaine Progeroid Syndrome
High, narrow palate, Long philtrum, Anteriorly placed anus, Narrow mouth, Protruding tongue, Olig... OMIM:612289
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst, Submucous cleft hard palate OMIM:609166
Seckel Syndrome 2
Microglossia, Microdontia OMIM:606744
Holoprosencephaly 4
Median cleft upper lip, Median cleft palate OMIM:142946
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Cleft palate OMIM:618469
Down Syndrome
Duodenal stenosis, Protruding tongue, Aganglionic megacolon, Macroglossia, Anal atresia OMIM:190685
Cronkhite-Canada Syndrome
Furrowed tongue, Stomach cancer, Intestinal polyposis, Hypogeusia, Hamartomatous polyposis, Colon... ORPHA:2930
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Long philtrum, Cleft soft palate, Gingival overgrowth, Absent uvula... OMIM:618529
Oculopalatocerebral Syndrome
Cleft palate OMIM:257910
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the philtrum, Abnormal lip morphology ORPHA:2759
Degcags Syndrome
Long philtrum, Protruding tongue, Jejunal atresia, Hiatus hernia, Smooth philtrum, Intestinal atr... OMIM:619488
Lelis Syndrome
Hypodontia, Carious teeth, Furrowed tongue ORPHA:140936
Bilateral Perisylvian Polymicrogyria
Protruding tongue ORPHA:98889
Psoriasis 14, Pustular
Furrowed tongue, Geographic tongue OMIM:614204
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology ORPHA:531151
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Cleft palate ORPHA:1790
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Hypodontia, Enamel hypoplasia OMIM:253250
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Spinocerebellar Ataxia 36
Tongue fasciculations, Tongue atrophy OMIM:614153
Pachyonychia Congenita 3
Gingivitis, Furrowed tongue, Oral leukoplakia, Chapped lip OMIM:615726
Chand Syndrome
Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla... ORPHA:1401
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Hartnup Disease
Gingivitis, Glossitis ORPHA:2116
Basel-Vanagaite-Smirin-Yosef Syndrome
Furrowed tongue, Tented upper lip vermilion, Everted lower lip vermilion, High palate, Short phil... OMIM:616449
Mandibuloacral Dysplasia
Dental crowding, High palate, Hypoplasia of teeth, Abnormal tongue morphology ORPHA:2457
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Stomatitis, Cleft palate ORPHA:79284
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Tongue atrophy ORPHA:276198
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Tented upper lip vermilion, Agenesis of central incisor, Exa... ORPHA:364577
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Glossoptosis, Cleft palate ORPHA:1427
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Long philtrum, Tented upper lip vermilion, Submuc... OMIM:608670
Cowden Syndrome 5
Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis OMIM:615108
Orofaciodigital Syndrome I
Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis of permanent teeth, ... OMIM:311200
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Glossoptosis, Cleft palate ORPHA:436003
Congenital Disorder Of Glycosylation, Type Iig
Long philtrum, Narrow mouth, Thin upper lip vermilion, Smooth philtrum, High palate, Glossoptosis... OMIM:611209
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Open... ORPHA:1452
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Tooth agenesis, Open mouth, Microdontia, Everted lower lip verm... ORPHA:570
Hereditary Folate Malabsorption
Glossitis, Cheilitis ORPHA:90045
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hamartomatous polyposis, Glossitis, Protein-losing enteropathy, Xerostomia OMIM:175500
Cowden Syndrome 6
Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis OMIM:615109
Culler-Jones Syndrome
Cleft palate, Cleft upper lip OMIM:615849
Cree Impaired Intellectual Development Syndrome
Cleft soft palate OMIM:606851
Orofaciodigital Syndrome Vi
Lobulated tongue, Cleft upper lip, Hamartoma of tongue, Incomplete cleft of the upper lip, High p... OMIM:277170
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Hamartoma of tongue, Abnormal oral frenulum morphology, Hi... ORPHA:2754
Tarp Syndrome
Meckel diverticulum, High palate, Glossoptosis, Tongue nodules, Cleft palate OMIM:311900
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Amish Lethal Microcephaly
Cleft soft palate ORPHA:99742
Treacher-Collins Syndrome
Tessier cleft, Abnormality of the dentition, Branchial fistula, Cleft upper lip, Tooth agenesis, ... ORPHA:861
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Diastema, Furrowed tongue, Thin upper lip vermilion, Smooth philtrum, High palate OMIM:300534
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Orofacial cleft, Tracheoesophageal fistula, High palate, Short ... ORPHA:958
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Bifid tongue, Anal atresia, Cleft p... OMIM:613091
Acrodermatitis Enteropathica
Abnormality of the tongue, Furrowed tongue, Glossitis, Cheilitis ORPHA:37
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Narrow mouth ORPHA:990
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft lip, Natal tooth, Hamartoma of tongue, Incomplete cleft of the upper lip, Bifid tongue, Ana... OMIM:616300
Frontorhiny
Bifid tongue, Cleft palate ORPHA:391474
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Glossitis, Tracheoesophageal fistula, High palate, Stomatitis OMIM:277380
Robinow Syndrome, Autosomal Dominant 3
Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly placed anu... OMIM:616894
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Downturned corners of mouth, Furrowed tongue, Open mouth, Branchial anomaly, Oligodo... ORPHA:453499
Orofaciodigital Syndrome Type 1
Abnormality of the dentition, Odontogenic neoplasm, Lip pit, Lobulated tongue, Tongue nodules, Op... ORPHA:2750
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes... ORPHA:193
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Cleft soft palate... OMIM:117650
Choreoacanthocytosis
Protruding tongue ORPHA:2388
Myopathy, Myofibrillar, 7
Tongue atrophy OMIM:617114
Intellectual Developmental Disorder, Autosomal Dominant 29
Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Open mouth, Narrow mouth, Thin uppe... OMIM:616078
Orofaciodigital Syndrome Type 10
Cleft soft palate, Long philtrum, Accessory oral frenulum ORPHA:2756
X-Linked Agammaglobulinemia
Glossoptosis ORPHA:47
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis ORPHA:2031
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Smooth philtrum, Short philtrum, Cleft soft palate ORPHA:293725
Cowden Syndrome 1
Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis OMIM:158350
Carey-Fineman-Ziter Syndrome 1
Microglossia, High palate, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:254940
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Native American Myopathy
Bifid uvula, Downturned corners of mouth, Submucous cleft soft palate, High palate, Cleft palate ORPHA:168572
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Furrowed tongue, Tented upper lip vermilion, Exaggerated cupid's bow, Everte... ORPHA:464738
Loeys-Dietz Syndrome 5
Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Hiatus hernia, Eosinophilic infiltrat... OMIM:615582
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Oral leukoplakia, Microdontia OMIM:148210
Cerebrocostomandibular Syndrome
Short hard palate, Glossoptosis, Cleft palate ORPHA:1393
Autosomal Recessive Robinow Syndrome
Abnormality of the dentition, Downturned corners of mouth, Long philtrum, Open bite, Ankyloglossi... ORPHA:1507
Pelvis-Shoulder Dysplasia
Microglossia, Cleft palate, Thick anterior alveolar ridges ORPHA:2839
Odontoonychodermal Dysplasia
Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t... OMIM:257980
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Tongue atrophy OMIM:211530
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormality of the dentition, Carious teeth, Anoperineal fistula, Chapped lip, Abnormal tongue mo... ORPHA:158668
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ... ORPHA:352665
Amyotrophic Lateral Sclerosis
Tongue atrophy, Xerostomia ORPHA:803
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Cleft palate ORPHA:94068
Gracile Bone Dysplasia
Ankyloglossia OMIM:602361
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Abnormality of the dentition, Xerostomia, Oral leukoplakia, Open bite, Ankylog... ORPHA:2907
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Dental crowding, Furrowed tongue, Gingival overgrowth, Advanced eru... ORPHA:769
Constricting Bands, Congenital
Tessier cleft, Cleft palate, Cleft upper lip OMIM:217100
Otopalatodigital Syndrome Type 2
Narrow mouth, Oligodontia, Anodontia, Glossoptosis, Cleft palate, Pierre-Robin sequence ORPHA:90652
Ramos-Arroyo Syndrome
Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Aganglionic megacolon ORPHA:1051
Popliteal Pterygium Syndrome
Bifid uvula, Fibrous syngnathia, Cleft upper lip, Lower lip pit, Cleft palate OMIM:119500
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Wide mouth, Abnormal parotid gland morphology, Cleft palate OMIM:154500
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Glossitis ORPHA:35858
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Natal tooth, Narrow mouth, Supernumerary tooth... ORPHA:2108
Tarp Syndrome
Alveolar ridge overgrowth, Abnormal duodenum morphology, Glossoptosis, Tongue nodules, Cleft pala... ORPHA:2886
Au-Kline Syndrome
Bifid uvula, Dental malocclusion, Downturned corners of mouth, Open mouth, Oligodontia, Bifid ton... OMIM:616580
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long phil... OMIM:180700
Robinow Syndrome
Tooth malposition, Dental malocclusion, Dental crowding, Long philtrum, Ankyloglossia, Persistenc... ORPHA:97360
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Dental crowding, Delayed eruption of teeth, Narrow mouth, Submucous cleft hard palat... OMIM:300990
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Branchial fistula, Ankyloglossia, Narrow mouth, Thin upper lip vermilion, Sm... ORPHA:261330
Limb-Mammary Syndrome
Bifid uvula, Cleft lip, Submucous cleft soft palate, Hypodontia, Cleft hard palate, Cleft palate ORPHA:69085
Generalized Pustular Psoriasis
Cheilitis, Geographic tongue ORPHA:247353
Robinow Syndrome, Autosomal Recessive 1
Narrow palate, Microglossia, Dental crowding, Downturned corners of mouth, Long philtrum, Tooth a... OMIM:268310
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Tongue atrophy ORPHA:99956
Intellectual Developmental Disorder, Autosomal Dominant 73
Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Cleft soft palate, Increased overb... OMIM:620450
Thoracoabdominal Syndrome
Cleft palate, Cleft upper lip OMIM:313850
Catel-Manzke Syndrome
Bifid uvula, Cleft upper lip, Narrow mouth, High palate, Glossoptosis, Cleft palate, Pierre-Robin... OMIM:616145
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Median cleft upper... OMIM:269860
Autosomal Dominant Robinow Syndrome
High, narrow palate, Downturned corners of mouth, Long philtrum, Open bite, Gingival overgrowth, ... ORPHA:3107
Mucoepithelial Dysplasia, Hereditary
Furrowed tongue, Erythematous oral mucosa OMIM:158310
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Eclabion, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, C... OMIM:619950
Kinsship Syndrome
Downturned corners of mouth, Thick lower lip vermilion, Widely spaced teeth, Ankyloglossia, Gingi... OMIM:619297
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Microglossia, Hamartoma of tongue, Intestinal malrotation, Median cleft upper lip, Cleft palate OMIM:263520
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Submucous cleft soft palate ORPHA:2282
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy ORPHA:101085
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Carious teeth, Anal fissure, Esophageal stricture, Ankyloglossia, Narrow mouth, Abnormal esophagu... ORPHA:89842
Opitz Gbbb Syndrome
Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Hypodontia, Ectopic anus, Anal atresia, Tra... ORPHA:2745
Orofaciodigital Syndrome Type 14
Hamartoma of tongue, Accessory oral frenulum, Aplasia of the epiglottis, Bifid tongue, Supernumer... ORPHA:434179
Agel Amyloidosis
Tongue atrophy, Xerostomia ORPHA:85448
1Q21.1 Microdeletion Syndrome
Ankyloglossia, High palate, Long philtrum ORPHA:250989
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy ORPHA:99949
Cousin Syndrome
Microglossia, Cleft palate, Alveolar ridge overgrowth OMIM:260660
Orofaciodigital Syndrome Xiv
Cleft lip, Natal tooth, Anteriorly placed anus, Hamartoma of tongue, Aplasia of the epiglottis, B... OMIM:615948
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ankyloglossia, Downturned corners of mouth, Cleft palate ORPHA:488642
Giant Cell Arteritis
Glossitis ORPHA:397
Smith-Lemli-Opitz Syndrome
Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morphology, Abnormal dental m... ORPHA:818
Marshall-Smith Syndrome
Eclabion, Anteriorly placed anus, Gingival overgrowth, Irregular dentition, Microdontia, Short ph... OMIM:602535
Stickler Syndrome
Bifid uvula, Long philtrum, Cleft upper lip, Open bite, Abnormal dental enamel morphology, Tooth ... ORPHA:828
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Cleft lip, Furrowed tongue, Smooth philtrum, High palate, Duodenal atresia OMIM:616975
Distal Deletion 15Q
Abnormality of the dentition, Thin upper lip vermilion, Bifid tongue, Short philtrum, Cleft palate ORPHA:1596
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Carious teeth, Long philtrum, Widely spaced teeth, Thick lower lip vermilion... OMIM:615873
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Smooth tongue, Oral mucosal blisters ORPHA:79396
Stuve-Wiedemann Syndrome 1
Thin vermilion border, Carious teeth, Smooth tongue, Pursed lips OMIM:601559
Pallister-Hall Syndrome
Microglossia, Natal tooth, Cleft upper lip, Anteriorly placed anus, Anal atresia, Cleft palate OMIM:146510
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Microglossia, Anteriorly placed anus, Enamel hypoplasia, Cleft palate OMIM:151050
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Smooth philtrum, Cleft soft palate, Downturned corners of mouth OMIM:619321
Meckel Syndrome, Type 1
Natal tooth, Cleft upper lip, Intestinal malrotation, Thin upper lip vermilion, Smooth philtrum, ... OMIM:249000
Distal Deletion 12Q
High, narrow palate, Microglossia, Long philtrum, Median cleft upper lip, Smooth philtrum, Esopha... ORPHA:96149
Meckel Syndrome
Furrowed tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:564
Cowden Syndrome
Furrowed tongue, Colorectal polyposis, Macroglossia, High palate, Hamartomatous polyposis ORPHA:201
Retinoblastoma
Cleft palate OMIM:180200
Hardikar Syndrome
Unilateral cleft lip, Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Bilatera... OMIM:301068
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Downturned corners of mouth, Long philtrum, Thin upper lip vermilion, Macroglossia, High palate, ... ORPHA:444077
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Ganglioneuromatosis, Thick vermilion border, Abnormal tongue morphology ORPHA:653
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Glossitis, Stomatitis ORPHA:79282
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Carious teeth, Natal tooth, Branchial cyst, Downturned corners of mouth, Ankylogloss... OMIM:620186
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Okamoto Syndrome
Anal stenosis, Exaggerated median tongue furrow, Downturned corners of mouth, Open bite, Intestin... ORPHA:2729
Kawasaki Disease
Strawberry tongue, Lip fissure, Glossitis, Cheilitis ORPHA:2331
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Yunis-Varon Syndrome
High, narrow palate, Gingival recession, Broad secondary alveolar ridge, Premature loss of primar... ORPHA:3472
Glucagonoma
Steatorrhea, Glossitis, Stomatitis, Intestinal obstruction ORPHA:97280
Diamond-Blackfan Anemia
Adenocarcinoma of the colon, Cleft lip, High palate, Cleft soft palate ORPHA:124
Fraser Syndrome
Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Orofacial cleft, Anal atres... ORPHA:2052
Neuroocular Syndrome 1
Short uvula, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, Submucous cleft har... OMIM:619539
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Short uvula, Ankyloglossia, Thin upper lip vermilion, Smooth philtrum, Short... OMIM:619475
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Carious teeth, Anal fissure, Ankyloglossia, Erosion of oral mucosa, Narrow mouth, Oral mucosal bl... ORPHA:79408
Smith-Lemli-Opitz Syndrome
Bifid uvula, Microglossia, Dental crowding, Long philtrum, Intestinal malrotation, Aganglionic me... OMIM:270400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Cleft soft palate, Supernumerary tooth, Widely spaced teeth ORPHA:268261
Viss Syndrome
High, narrow palate, Bifid uvula, Broad uvula, Celiac disease, Intestinal malrotation, Chronic ga... OMIM:619472
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Smooth tongue ORPHA:3206
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Long philtrum, Cleft upper lip, Ectopic anus, Esophageal atresia, Bifid tongue, An... ORPHA:93271
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Delayed eruption of teeth, Impacted tooth, Ankyloglossia, Persistence of primary... ORPHA:740
Microsporidiosis
Glossitis ORPHA:2552
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Agenesis of permanent te... OMIM:619503
Chilton-Okur-Chung Neurodevelopmental Syndrome
Widely spaced teeth, Ankyloglossia, Thin upper lip vermilion, Smooth philtrum, Agenesis of inciso... OMIM:619841
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Submucous cleft lip, Exaggerated median tongue furrow, Dental malocclusion, Meckel... OMIM:312870
Microphthalmia, Syndromic 6
Bifid uvula, High palate, Microglossia, Cleft palate OMIM:607932
Plague
Inflammation of the large intestine, Chapped lip, Ileitis, Enterocolitis, Glossitis ORPHA:707
Congenital Disorder Of Glycosylation, Type Iiw
Ankyloglossia, Supernumerary tooth OMIM:619525
Pallister-Hall Syndrome
Bifid uvula, Cleft lip, Natal tooth, Microglossia, Anal atresia, Cleft palate, Accessory oral fre... ORPHA:672
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:261537
Mowat-Wilson Syndrome
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:2152
Carney Complex
Abnormal hard palate morphology, Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the sto... ORPHA:1359
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:261552
Holt-Oram Syndrome
Cleft soft palate, Long philtrum OMIM:142900

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Golgb1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Golgb1tm43528(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Golgb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Golgb1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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