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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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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
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
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Uvula, Bifid
Bifid uvula OMIM:192100
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Cleft Soft Palate
Cleft soft palate OMIM:119570
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Sprengel Deformity
Cleft palate ORPHA:3181
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Parc Syndrome
Cleft palate OMIM:600331
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Disorganization, Mouse, Homolog Of
Cleft palate, Cleft upper lip OMIM:223200
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip OMIM:600251
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Cleft palate ORPHA:2015
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
16P11.2P12.2 Microduplication Syndrome
Cleft palate ORPHA:261204
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... OMIM:618106
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Mesomelic Limb Shortening And Bowing
Cleft palate OMIM:249710
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Bifid uvula OMIM:612938
Neuralgic Amyotrophy
Cleft palate, Narrow mouth ORPHA:2901
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate OMIM:183700
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Nemaline Myopathy 9
High palate, Cleft palate OMIM:615731
Thomas Syndrome
Cleft palate, Cleft upper lip ORPHA:3316
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Anencephaly 2
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Hartnup Disorder
Glossitis OMIM:234500
Gordon Syndrome
High palate, Cleft palate ORPHA:376
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate OMIM:201550
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cleft palate OMIM:300261
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:870
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Cleft palate ORPHA:85273
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion OMIM:616898
Bamforth-Lazarus Syndrome
Cleft palate OMIM:241850
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:98795
Isolated Dandy-Walker Malformation
Cleft palate ORPHA:217
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Abruzzo-Erickson Syndrome
Cleft palate OMIM:302905
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Malabsorption, Protruding tongue OMIM:242860
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Cleft palate ORPHA:1779
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long philtrum, Smooth phi... OMIM:618580
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Diprosopus
Non-midline cleft lip, Cleft palate ORPHA:1681
Icf Syndrome
Macroglossia, Malabsorption, Protruding tongue ORPHA:2268
Orofaciodigital Syndrome Xi
Cleft palate OMIM:612913
Multiple Synostoses Syndrome 3
Cleft palate OMIM:612961
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Parietal Foramina 1
Cleft palate, Cleft upper lip OMIM:168500
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... OMIM:618761
Joubert Syndrome 26
Cleft lip, Cleft palate OMIM:616784
Angelman Syndrome Due To A Point Mutation
Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:411511
Split hand/foot malformation 1 (SHFM1)
Median cleft lip, Cleft palate DECIPHER:46
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft lip, Cleft palate OMIM:300263
Kleefstra Syndrome 1
Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia, Everted lower lip ver... OMIM:610253
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Protruding tongue OMIM:618797
Marshall-Smith Syndrome
Open mouth, Gingival overgrowth, Protruding tongue ORPHA:561
Chromosome 22Q11.2 Deletion Syndrome, Distal
Smooth philtrum, Thin upper lip vermilion, Cleft palate OMIM:611867
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Bamforth-Lazarus Syndrome
Cleft palate ORPHA:1226
Ring Chromosome 22 Syndrome
Thick vermilion border, Protruding tongue ORPHA:1446
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Stickler Syndrome Type 2
Cleft palate ORPHA:90654
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Pierre-Robin sequence, Cleft palate OMIM:184840
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, High palate, Short philtrum, Protruding tongue OMIM:300963
Angelman Syndrome
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue OMIM:105830
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Protruding tongue, Everted lower lip vermilion, High palate, Open mouth, Smooth philtrum OMIM:617804
Microphthalmia, Syndromic 8
Widely-spaced maxillary central incisors, Cleft palate, Orofacial cleft, Cleft upper lip OMIM:601349
Hypoglossia With Situs Inversus
Microglossia, High palate, Hypodontia, Narrow mouth OMIM:612776
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Gingival overgrowth, Protruding tongue OMIM:619179
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin vermilion border,... OMIM:212066
Auriculocondylar Syndrome 1
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... OMIM:602483
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft OMIM:141400
Coloboma Of Macula And Skeletal Anomalies
Cleft palate OMIM:216800
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... ORPHA:3241
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Open mouth, High palate, Cleft palate OMIM:620021
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Juvenile Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93399
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft lip, Ectopic anus, Cleft palate ORPHA:2476
Acrorenal Syndrome
Cleft palate ORPHA:971
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Ectopic anus, Short philtrum, Cleft palate ORPHA:94066
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... ORPHA:530
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:98794
Lymphatic Malformation 5
Cleft palate OMIM:153200
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Gingival overgrowth, Narrow mouth OMIM:230600
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Split-Hand/Foot Malformation 3
High palate, Cleft palate, Narrow mouth OMIM:246560
Whistling Face Syndrome, Recessive Form
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia OMIM:277720
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Raine Syndrome
Natal tooth, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, High palate, Narro... OMIM:259775
Fetal Akinesia Deformation Sequence 2
Tented upper lip vermilion, High palate, Cleft palate OMIM:618388
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia ORPHA:3201
Orofaciodigital Syndrome Viii
Median cleft lip, High palate, Cleft palate OMIM:300484
Treacher Collins Syndrome 4
Cleft palate OMIM:618939
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pierre-Robin sequence, Cleft palate OMIM:602196
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Kleefstra Syndrome Due To 9Q34 Microdeletion
Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue ORPHA:96147
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, High palate, Cleft palate ORPHA:1135
Tetraamelia Syndrome 2
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate OMIM:618021
Holoprosencephaly 11
Cleft lip, Cleft palate OMIM:614226
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Cleft palate ORPHA:2010
Congenital Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93400
Cataract-Intellectual Disability-Hypogonadism Syndrome
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition ORPHA:1387
Genitopalatocardiac Syndrome
Cleft palate, Cleft upper lip OMIM:231060
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... OMIM:258860
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Hypodontia, Microdontia, Anodontia OMIM:225060
Braddock-Carey Syndrome 2
Wide mouth, Pierre-Robin sequence, Cleft palate OMIM:619981
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:620269
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis ORPHA:54028
Stickler Syndrome, Type Ii
High, narrow palate, Pierre-Robin sequence, Bifid uvula, Cleft palate OMIM:604841
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,... OMIM:301040
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Auriculocondylar Syndrome
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... ORPHA:137888
Birk-Barel Syndrome
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula OMIM:612292
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... OMIM:619736
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Congenital Disorder Of Glycosylation, Type Iie
Protruding tongue, Thick vermilion border, Smooth philtrum, Narrow mouth OMIM:608779
Keratoconus Posticus Circumscriptus
Cleft palate, Cleft upper lip OMIM:244600
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, High, narrow palate, High palate, Protruding tongue OMIM:214100
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Protruding tongue, Deep philtrum, Premature loss of teeth, Gingival overgro... ORPHA:99843
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Say Syndrome
Cleft palate OMIM:181180
Hamel Cerebro-Palato-Cardiac Syndrome
Cleft palate, Narrow mouth ORPHA:93946
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:614838
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Cleft upper lip OMIM:214300
Angelman Syndrome
Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:72
Weyers Ulnar Ray/Oligodactyly Syndrome
Solitary median maxillary central incisor, High palate, Cleft palate, Cleft upper lip OMIM:602418
Acalvaria
Cleft palate ORPHA:945
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Microdontia, Ena... OMIM:619777
Hypoglossia-Hypodactylia
Microglossia, Aglossia, Narrow mouth OMIM:103300
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Joubert Syndrome 18
Lobulated tongue, Cleft palate OMIM:614815
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... OMIM:616367
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate ORPHA:957
Split-Hand/Foot Malformation 1
Cleft palate OMIM:183600
Diaphanospondylodysostosis
Cleft palate ORPHA:66637
Pai Syndrome
Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology ORPHA:1993
Joubert Syndrome 1
Macroglossia, Triangular-shaped open mouth, Protruding tongue OMIM:213300
Trisomy 8Q
Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ... ORPHA:1752
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum OMIM:613443
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... OMIM:174300
Treacher Collins Syndrome 3
Cleft palate OMIM:248390
Isotretinoin Embryopathy-Like Syndrome
Cleft palate OMIM:243440
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth OMIM:613604
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, High palate, Protruding tongue OMIM:617062
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft palate, Cleft upper lip OMIM:609654
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate OMIM:601355
Isotretinoin Syndrome
Cleft palate ORPHA:2305
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Cleft palate OMIM:603543
Focal Facial Dermal Dysplasia Type Iv
Cleft palate, Cleft upper lip ORPHA:398189
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Protruding tongue ORPHA:258
Achondrogenesis, Type Ia
Protruding tongue OMIM:200600
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia OMIM:241310
Hydrolethalus Syndrome 2
Cleft palate OMIM:614120
Orofaciodigital Syndrome X
Cleft palate OMIM:165590
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate OMIM:618356
Holzgreve Syndrome
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Agnathia-Otocephaly Complex
Microglossia, Aglossia, Cleft palate, Narrow mouth OMIM:202650
Blomstrand Lethal Chondrodysplasia
Natal tooth, Long philtrum, Protruding tongue ORPHA:50945
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cleft palate OMIM:614880
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations OMIM:614678
Schisis Association
Anal atresia, Unilateral cleft lip, Tracheoesophageal fistula, Cleft palate ORPHA:63862
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Pallister-Hall-Like Syndrome
Microglossia, Median cleft lip, Cleft palate OMIM:241800
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth OMIM:227270
Seckel Syndrome 2
Microdontia, Microglossia OMIM:606744
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth OMIM:615065
Aase-Smith Syndrome I
Open mouth, Cleft palate OMIM:147800
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum OMIM:614526
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Meckel Syndrome, Type 5
Cleft palate, Cleft upper lip OMIM:611561
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Dental crowding, Narrow palate ORPHA:313892
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili... ORPHA:1358
Orofaciodigital Syndrome Ix
Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palate OMIM:258865
Oculopalatocerebral Syndrome
Cleft palate OMIM:257910
Anophthalmia Plus Syndrome
Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate ORPHA:1104
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
Cronkhite-Canada Syndrome
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... ORPHA:2930
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... OMIM:252100
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Cleft palate OMIM:618469
Faciocardiorenal Syndrome
Smooth philtrum, Hypodontia, Cleft palate, Narrow mouth ORPHA:1973
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft palate, Cleft upper lip OMIM:244200
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... ORPHA:2752
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Frontonasal Dysplasia 3
Cleft palate OMIM:613456
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Distal Limb Deficiencies-Micrognathia Syndrome
Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia ORPHA:1307
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Narrow ... ORPHA:989
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Th... OMIM:309580
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate OMIM:616738
Enlarged Parietal Foramina
Cleft lip, Cleft palate ORPHA:60015
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Cleft palate OMIM:300946
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate OMIM:609166
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Dystonia-Deafness Syndrome 1
Cleft palate, Cleft upper lip OMIM:607371
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Protruding tongue, High, narrow palate, Anteriorly placed anus, Oligodo... OMIM:612289
Down Syndrome
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia OMIM:190685
Psoriasis 14, Pustular
Geographic tongue, Furrowed tongue OMIM:614204
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue ORPHA:2759
Holoprosencephaly-Caudal Dysgenesis Syndrome
Median cleft lip, Cleft palate ORPHA:2165
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... OMIM:616331
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology ORPHA:531151
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Bifid uvula, Cleft palate, Narrow mouth ORPHA:1790
Bilateral Perisylvian Polymicrogyria
Protruding tongue ORPHA:98889
Pachyonychia Congenita 3
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue OMIM:615726
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... OMIM:618874
Lelis Syndrome
Carious teeth, Hypodontia, Furrowed tongue ORPHA:140936
Mulibrey Nanism
Dental crowding, Dental malocclusion, Hypodontia, Microglossia, Enamel hypoplasia OMIM:253250
Hartnup Disease
Glossitis, Gingivitis, Malabsorption ORPHA:2116
Degcags Syndrome
Jejunal atresia, Protruding tongue, Hiatus hernia, Pyloric stenosis, Wide mouth, High palate, Thi... OMIM:619488
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations OMIM:614153
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Short philtrum, Cleft palate OMIM:617337
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m... OMIM:618529
Chand Syndrome
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... ORPHA:1401
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Anal atresia, Cleft palate ORPHA:95706
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... ORPHA:2751
Meckel Syndrome, Type 3
Cleft palate OMIM:607361
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Dental crowding, Hypoplasia of teeth ORPHA:2457
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... OMIM:616449
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations ORPHA:276198
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... ORPHA:364577
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Glossitis, Cleft palate ORPHA:79284
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis OMIM:175500
Cowden Syndrome 5
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:615108
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... OMIM:608670
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Everted lower lip ve... ORPHA:570
Branchiootic Syndrome
Cleft palate, Lip pit, Branchial fistula ORPHA:52429
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Glossoptosis, Cleft palate ORPHA:436003
Orofaciodigital Syndrome I
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo... OMIM:311200
Hereditary Folate Malabsorption
Glossitis, Cheilitis ORPHA:90045
Cowden Syndrome 6
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:615109
Cleidocranial Dysplasia
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... ORPHA:1452
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... ORPHA:1071
Culler-Jones Syndrome
Cleft palate, Cleft upper lip OMIM:615849
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow ... OMIM:611209
Acrodermatitis Enteropathica
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis ORPHA:37
Orofaciodigital Syndrome Vi
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ... OMIM:277170
Orofaciodigital Syndrome Type 6
Hamartoma of tongue, Midline notch of upper alveolar ridge, Cleft palate, Lobulated tongue, Abnor... ORPHA:2754
Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Bifid uvula, Cleft palate ORPHA:1427
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum OMIM:311900
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Anal atresia, Rectovaginal fistula, Intestinal malrotation, Cleft palate OMIM:270420
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Narrow mouth ORPHA:990
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... OMIM:613091
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the upper lip, Lob... OMIM:616300
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ... ORPHA:958
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Thin upper lip vermilion, Diastema, Furrowed tongue, High palate, Smooth philtrum OMIM:300534
Frontorhiny
Bifid tongue, Cleft palate ORPHA:391474
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis OMIM:277380
Amish Lethal Microcephaly
Cleft soft palate ORPHA:99742
Holoprosencephaly 3
Solitary median maxillary central incisor, Cleft lip, Bifid uvula, Cleft palate OMIM:142945
Robinow Syndrome, Autosomal Dominant 3
Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of permanent teeth, A... OMIM:616894
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... OMIM:117650
Renal Agenesis, Bilateral
Non-midline cleft lip, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate ORPHA:1848
Orofaciodigital Syndrome Type 1
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue... ORPHA:2750
X-Linked Agammaglobulinemia
Glossoptosis, Malabsorption ORPHA:47
Treacher-Collins Syndrome
Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip... ORPHA:861
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, Branchial ... ORPHA:453499
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Dental crowding, Narrow palate, High palate, Thick vermilion border, Na... OMIM:616078
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... ORPHA:193
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis ORPHA:2031
Myopathy, Myofibrillar, 7
Tongue atrophy OMIM:617114
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Long philtrum ORPHA:2756
Native American Myopathy
Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Bifid uvula ORPHA:168572
Cowden Syndrome 1
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:158350
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Microglossia OMIM:254940
Choreoacanthocytosis
Protruding tongue ORPHA:2388
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Cerebrocostomandibular Syndrome
Glossoptosis, Short hard palate, Cleft palate ORPHA:1393
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Microdontia, Oral leukoplakia, Furrowed tongue OMIM:148210
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Tongue fasciculations OMIM:211530
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ... ORPHA:464738
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Microglossia, Cleft palate ORPHA:2839
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentition, Open bite, Sup... ORPHA:1507
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... OMIM:615582
Popliteal Pterygium Syndrome
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Bifid uvula OMIM:119500
Gracile Bone Dysplasia
Ankyloglossia OMIM:602361
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... ORPHA:352665
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Cleft palate ORPHA:94068
Rabson-Mendenhall Syndrome
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... ORPHA:769
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth OMIM:154500
Hereditary Acrokeratotic Poikiloderma
Premature loss of primary teeth, Abnormality of the dentition, Open bite, Xerostomia, Gingivitis,... ORPHA:2907
Otopalatodigital Syndrome Type 2
Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Anodontia ORPHA:90652
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Long philtrum ORPHA:1051
Thoracoabdominal Syndrome
Cleft palate, Cleft upper lip OMIM:313850
Imerslund-Gräsbeck Syndrome
Glossitis, Angular cheilitis ORPHA:35858
Tarp Syndrome
Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum m... ORPHA:2886
Au-Kline Syndrome
Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia, High palate, Open mo... OMIM:616580
Generalized Pustular Psoriasis
Geographic tongue, Cheilitis ORPHA:247353
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per... OMIM:180700
Hallermann-Streiff Syndrome
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... ORPHA:2108
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula ORPHA:69085
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Tongue atrophy ORPHA:99956
Robinow Syndrome
Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... ORPHA:97360
Distal 22Q11.2 Microdeletion Syndrome
Thin upper lip vermilion, Branchial fistula, High, narrow palate, Pyloric stenosis, Cleft palate,... ORPHA:261330
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou... OMIM:300990
Catel-Manzke Syndrome
Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi... OMIM:616145
Constricting Bands, Congenital
Cleft palate, Cleft upper lip OMIM:217100
Mucoepithelial Dysplasia, Hereditary
Erythematous oral mucosa, Furrowed tongue OMIM:158310
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia OMIM:263520
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Med... OMIM:269860
Autosomal Dominant Robinow Syndrome
Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the gingiva, Supernum... ORPHA:3107
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle... ORPHA:434179
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ... OMIM:268310
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy ORPHA:101085
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ... OMIM:619950
Kinsship Syndrome
Thin upper lip vermilion, Thick lower lip vermilion, Gingival overgrowth, Downturned corners of m... OMIM:619297
Opitz Gbbb Syndrome
Natal tooth, Cleft lip, Tracheoesophageal fistula, Cleft palate, Ectopic anus, High palate, Hypod... ORPHA:2745
Agel Amyloidosis
Tongue atrophy, Xerostomia ORPHA:85448
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Narrow mouth, Ankylogloss... ORPHA:89842
1Q21.1 Microdeletion Syndrome
Ankyloglossia, High palate, Long philtrum ORPHA:250989
Orofaciodigital Syndrome Xiv
Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasia of the epiglottis, Clef... OMIM:615948
Charcot-Marie-Tooth Disease Type 4C
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations ORPHA:99949
Cousin Syndrome
Microglossia, Alveolar ridge overgrowth, Cleft palate OMIM:260660
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Downturned corners of mouth, Ankyloglossia, Cleft palate ORPHA:488642
Giant Cell Arteritis
Glossitis ORPHA:397
Stickler Syndrome
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog... ORPHA:828
Pallister-Hall Syndrome
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Microglossia, Anal atresia OMIM:146510
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Pyloric ste... ORPHA:818
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Smooth philtrum, Duodenal atresia OMIM:616975
Marshall-Smith Syndrome
Eclabion, Irregular dentition, Pyloric stenosis, Gingival overgrowth, Anteriorly placed anus, Glo... OMIM:602535
Retinoblastoma
Cleft palate OMIM:180200
Distal Deletion 15Q
Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Bifid tongue ORPHA:1596
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Smooth tongue, Oral mucosal blisters ORPHA:79396
Helsmoortel-Van Der Aa Syndrome
Thin upper lip vermilion, Carious teeth, High, narrow palate, Thick lower lip vermilion, Wide mou... OMIM:615873
Stuve-Wiedemann Syndrome 1
Carious teeth, Pursed lips, Thin vermilion border, Smooth tongue OMIM:601559
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Cleft palate, Anteriorly placed anus, Microglossia, Enamel hypoplasia OMIM:151050
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum OMIM:619321
Meckel Syndrome, Type 1
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ... OMIM:249000
Distal Deletion 12Q
Median cleft lip, High, narrow palate, Supernumerary tooth, Esophageal atresia, Pyloric stenosis,... ORPHA:96149
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue ORPHA:564
Cowden Syndrome
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate ORPHA:201
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Downturned corners of mouth, Glossoptosis, Macroglossia, High palate, L... ORPHA:444077
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis ORPHA:653
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Glossitis, Smooth philtrum ORPHA:79282
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Carious teeth, Downturned corners of mouth... OMIM:620186
Fraser Syndrome
Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, Ectopic an... ORPHA:2052
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... OMIM:301068
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... ORPHA:2729
Glucagonoma
Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea ORPHA:97280
Yunis-Varon Syndrome
Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Pyloric st... ORPHA:3472
Diamond-Blackfan Anemia
Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon ORPHA:124
Kawasaki Disease
Glossitis, Cheilitis ORPHA:2331
Neuroocular Syndrome
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... OMIM:619539
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, High, narrow palate, Short uvula, Broad philtrum, Short philtrum, High ... OMIM:619475
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Dental crowding, Intestinal malrotation, Pyloric stenosis, Cleft palate, B... OMIM:270400
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Narrow mouth, Esophag... ORPHA:79408
Stüve-Wiedemann Syndrome
Smooth tongue, Abnormality of the dentition ORPHA:3206
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Cleft soft palate ORPHA:268261
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... ORPHA:740
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Microsporidiosis
Glossitis ORPHA:2552
Chilton-Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Agenesis of incisor, Wide mouth, Widely spaced teeth, Short philtrum, A... OMIM:619841
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, Anal atresia ORPHA:93271
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft soft palate, Deep phi... OMIM:619503
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Intestinal malrotation, Submucous cleft lip, Dental malocclusio... OMIM:312870
Microphthalmia, Syndromic 6
Microglossia, High palate, Bifid uvula, Cleft palate OMIM:607932
Plague
Chapped lip, Inflammation of the large intestine, Glossitis, Enterocolitis ORPHA:707
Pallister-Hall Syndrome
Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Microglossia, Bifid uvula, Anal at... ORPHA:672
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Ankyloglossia OMIM:619525
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... ORPHA:261537
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... ORPHA:2152
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... ORPHA:1359
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... ORPHA:261552

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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