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Gene: Wdr72 MGI:3583957

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

WD repeat domain 72

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Wdr72 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.

Human diseases associated with Wdr72 (1 diseases)
Human diseases predicted to be associated with Wdr72 (335 diseases)

The table below shows human diseases associated to Wdr72 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia3		Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization	OMIM:613211

The table below shows human diseases predicted to be associated to Wdr72 by phenotypic similarity.

Disease	Matching phenotypes	Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization	OMIM:614832
Dentin Dysplasia, Type I	Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite...	OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization	OMIM:613211
Amelogenesis Imperfecta, Type Ik	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:620104
Amelogenesis Imperfecta, Type Ia	Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia	OMIM:104530
Amelogenesis Imperfecta, Type Iiib	Amelogenesis imperfecta, Enamel hypomineralization	OMIM:617607
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Amelogenesis Imperfecta, Type Ij	Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car...	OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization	OMIM:617217
Amelogenesis Imperfecta, Type Ih	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:616221
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Amelogenesis Imperfecta, Type If	Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color	OMIM:616270
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Dental Ankylosis	Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis	ORPHA:1077
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia	OMIM:104510
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Dentinogenesis Imperfecta, Shields Type Iii	Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p...	OMIM:125500
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth	ORPHA:3196
Shaheen Syndrome	Enamel hypoplasia, Carious teeth	OMIM:615328
Otodental Dysplasia	Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi...	OMIM:166750
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth	OMIM:615887
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:612529
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204650
Epidermolysis Bullosa, Junctional 1A, Intermediate	Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters	OMIM:226650
Late-Onset Junctional Epidermolysis Bullosa	Enamel hypoplasia, Carious teeth, Oral mucosal blisters	ORPHA:79406
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Dental enamel pits, Scarring alopecia of scalp	OMIM:619787
Junctional Epidermolysis Bullosa Inversa	Enamel hypoplasia, Carious teeth, Atrophic scars, Oral mucosal blisters	ORPHA:79405
Dentinogenesis Imperfecta 1	Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta	OMIM:125490
Dentinogenesis Imperfecta	Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,...	ORPHA:49042
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Epidermolysis Bullosa, Junctional 1B, Severe	Enamel hypoplasia, Carious teeth, Atrophic scars, Failure to thrive	OMIM:226700
Heimler Syndrome 1	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:234580
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Thin vermilion border, Enamel hypoplasia, Malar flattening	ORPHA:139474
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp	ORPHA:79402
Stimmler Syndrome	Abnormal dental enamel morphology, Microdontia	ORPHA:3199
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth	ORPHA:2027
Failure Of Tooth Eruption, Primary	Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth	OMIM:125350
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Carious teeth, Thick vermilion border	ORPHA:363523
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Thin upper lip vermilion	OMIM:613576
Hall-Riggs Syndrome	Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Enamel ...	OMIM:234250
Kohlschutter-Tonz Syndrome	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:226750
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Amelogenesis imperfecta, Inguinal hernia, Mandibular prognathia, High palate, Tooth agenesis, Car...	OMIM:618363
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture	OMIM:203550
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar	OMIM:114700
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten...	ORPHA:2972
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm...	ORPHA:83451
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Heimler Syndrome 2	Amelogenesis imperfecta, Dental crowding	OMIM:616617
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Obesity, Delayed eruption of teeth	OMIM:612463
Jalili Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color	ORPHA:1873
Localized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of dental color, Atypical scarring of skin, Enamel hypopl...	ORPHA:251393
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth	ORPHA:71267
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Trichodental Dysplasia	Hypodontia, Odontodysplasia, Conical tooth	OMIM:601453
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth	ORPHA:248
Amelo-Onycho-Hypohidrotic Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A...	ORPHA:1028
Hypertrichosis Lanuginosa Congenita	Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2222
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath...	ORPHA:2325
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp	OMIM:226670
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth	OMIM:183300
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog...	ORPHA:3019
Teeth Present At Birth	Natal tooth	OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Tricho-Dento-Osseous Syndrome	Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer...	ORPHA:3352
Tooth Agenesis, Selective, 7	Agenesis of permanent teeth, Taurodontia	OMIM:616724
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee...	ORPHA:1946
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Downturned corners of mouth	ORPHA:2643
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
48,Xyyy Syndrome	Thick lower lip vermilion, High palate, Enamel hypoplasia, Irregularly spaced teeth, Long philtrum	ORPHA:99329
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita	OMIM:217150
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d...	ORPHA:2791
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:245660
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Tooth Agenesis, Selective, 9	Selective tooth agenesis, Microdontia, Taurodontia	OMIM:617275
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy...	OMIM:601216
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia	OMIM:614564
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Seckel Syndrome 5	Retrognathia, Oligodontia, Selective tooth agenesis, High palate, Enamel hypoplasia, Micrognathia...	OMIM:613823
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp	OMIM:612843
Cenani-Lenz Syndactyly Syndrome	Enamel hypoplasia, Micrognathia, Malar flattening, Hypodontia, Premature loss of permanent teeth	OMIM:212780
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala...	ORPHA:2919
Mulibrey Nanism	Absent frontal sinuses, Dental crowding, Hypoplastic frontal sinuses, Enamel hypoplasia, Microglo...	OMIM:253250
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H...	ORPHA:2025
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Bilateral cleft palate, High palate, Bilateral cleft lip, Ankyloglossia, Enamel hypoplasia, Failu...	OMIM:618874
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Failure to thrive, Malar flattening	OMIM:614727
Naegeli-Franceschetti-Jadassohn Syndrome	Supernumerary tooth, Yellow-brown discoloration of the teeth, Premature loss of teeth, Abnormalit...	ORPHA:69087
Braddock-Carey Syndrome 1	Everted lower lip vermilion, Camptodactyly, Enamel hypoplasia, Cleft palate, Pierre-Robin sequenc...	OMIM:619980
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth	OMIM:615905
Taurodontism	Taurodontia	OMIM:272700
Hypodontia-Dysplasia Of Nails Syndrome	Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti...	ORPHA:2228
Lacrimoauriculodentodigital Syndrome 3	Enamel hypoplasia, Carious teeth, Widely spaced teeth	OMIM:620193
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Inguinal hernia, High palate, Enamel hypoplasia, Umbilical hernia, Taurodontia	OMIM:618205
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Scarring alopecia of scalp, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth...	OMIM:618727
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis	ORPHA:2026
Cockayne Syndrome Type 2	Scarring, Hypoplasia of the primary teeth, Mandibular prognathia, Enamel hypoplasia, Flexion cont...	ORPHA:90322
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Enamel hypoplasia, Atrophic scars, Arthrogryposis multiplex congenita, Oral mucosal blisters	OMIM:226730
Brachydactyly, Type E2	Oligodontia, Delayed eruption of teeth	OMIM:613382
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Abnormal dental enamel morphology, Oligodontia, Scarring alopecia of scalp	ORPHA:59303
Oculoskeletodental Syndrome	Retrognathia, Oligodontia, Abnormality of the dentition, Microdontia, Enamel hypoplasia	ORPHA:557003
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Aredyld Syndrome	Lipoatrophy, Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morpho...	ORPHA:1133
Immunodeficiency 33	Hypodontia, Delayed eruption of teeth, Conical tooth	OMIM:300636
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypoplasia of teeth, Carious teeth	OMIM:613312
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Obesity, Delayed eruption of teeth	OMIM:612462
Pyle Disease	Delayed eruption of teeth, Mandibular prognathia, Persistence of primary teeth, Hypoplastic front...	OMIM:265900
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Everted lower lip vermilion, Mic...	ORPHA:1515
Blepharophimosis-Impaired Intellectual Development Syndrome	Widely spaced teeth, Short philtrum, Exaggerated cupid's bow, Microdontia, Enamel hypoplasia, Wid...	OMIM:619293
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Obesity, Delayed eruption of teeth	OMIM:103580
Amelogenesis Imperfecta, Type Ig	Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg...	OMIM:204690
Lowry-Maclean Syndrome	Cleft palate, Delayed eruption of teeth	OMIM:600252
Pycnodysostosis	Obtuse angle of mandible, High palate, Abnormality of the dentition, Persistence of primary teeth...	ORPHA:763
Qazi-Markouizos Syndrome	High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum	ORPHA:3010
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Failure to thrive, Downturned corne...	ORPHA:2107
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Atrophic scars, Narrow mouth, Corneal scarring, Enamel hypoplasia, Flexion contracture, Oral muco...	OMIM:226600
Jalili Syndrome	Yellow-brown discoloration of the teeth, Carious teeth, Enamel agenesis	OMIM:217080
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Hypoplasia of teeth, Accessory oral frenulum, Flexion contracture, Camptodactyly	ORPHA:88630
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Odontomicronychial Dysplasia	Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit...	ORPHA:1811
Usher Syndrome Type 2	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:231178
Catifa Syndrome	Inguinal hernia, Tooth malposition, Delayed eruption of teeth, Increased overbite, Camptodactyly,...	OMIM:618761
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Oligodontia, Enamel hypoplasia, Cleft palate, Pierre-Robin sequence, Thick vermi...	OMIM:619184
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Antegonial notching of mandible, Dental crowding, Oligodontia, High palate...	OMIM:170390
Rapp-Hodgkin Syndrome	Conical tooth, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Carious teeth, Enamel hypopl...	OMIM:129400
Odontochondrodysplasia	Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth	ORPHA:166272
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Mandibular prognathia, High palate, Obesity, Malar flattening	ORPHA:2180
Vitamin D-Dependent Rickets, Type 2A	Enamel hypoplasia, Carious teeth, Failure to thrive, Delayed eruption of teeth	OMIM:277440
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Narrow mouth, High palate, Micrognathia, Dentinogenesis imperfecta	OMIM:613849
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hypodontia, Delayed eruption of teeth	ORPHA:63442
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Enamel hypoplasia, Pulp calcification, Taurodontia	OMIM:211900
Hemifacial Atrophy, Progressive	Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth	OMIM:141300
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Natal tooth	ORPHA:99811
48,Xxyy Syndrome	Thick lower lip vermilion, Broad jaw, Inguinal hernia, Delayed eruption of teeth, Abnormal dental...	ORPHA:10
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormality of the dentition, Failure to thrive, Enamel hypoplasia, Bifid uvula, Wide mouth	OMIM:615802
Scarf Syndrome	Inguinal hernia, Enamel hypoplasia, Umbilical hernia, Long philtrum, Hypocalcification of dental ...	ORPHA:3134
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, High palate, Elbow flexion contracture, Enamel hypopla...	OMIM:210600
Specific Granule Deficiency 2	Amelogenesis imperfecta, Conical tooth, Failure to thrive, Tooth malposition	OMIM:617475
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Xfe Progeroid Syndrome	Cachexia, Premature loss of teeth, Corneal scarring, Enamel hypoplasia, Absence of subcutaneous f...	OMIM:610965
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Widely spaced teeth, Delayed eruption of teeth, Yellow-brown discolorati...	OMIM:619229
Dermatitis Herpetiformis	Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth	ORPHA:1656
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Retrognathia, Failure to thrive	OMIM:614576
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enamel hypoplasia, Failure to thrive, Delayed eruption of teeth	OMIM:264700
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Retrognathia, Short philtrum, Hypodontia, Narrow mouth, Hypoplasia of teeth, Micro...	OMIM:620250
Ohdo Syndrome	Thin vermilion border, Widely spaced teeth, Narrow mouth, Hypoplasia of teeth, Micrognathia, Smoo...	OMIM:249620
Cockayne Syndrome Type 1	Scarring, Hypoplasia of the primary teeth, Foot joint contracture, Mandibular prognathia, Abnorma...	ORPHA:90321
Oculodentodigital Dysplasia, Autosomal Recessive	Thin vermilion border, Hypoplasia of the primary teeth, Delayed eruption of teeth, Dental crowdin...	OMIM:257850
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Enamel-Renal Syndrome	Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno...	ORPHA:1031
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:94089
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Ectopic tooth eruption, Umbilical hernia	OMIM:606893
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Short philtrum, Small for gestational age, Oligodontia, Narrow mouth, Decreased body weight, Hypo...	ORPHA:391408
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hypodontia, Enamel hypoplasia, Oligodontia	OMIM:607626
Short Syndrome	Abnormal zygomatic bone morphology, Inguinal hernia, Abnormal dental enamel morphology, Abnormali...	ORPHA:3163
Craniolenticulosutural Dysplasia	Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High palate, Microdont...	ORPHA:50814
Bone Marrow Failure Syndrome 3	Amelogenesis imperfecta, Oral ulcer, Microdontia, Enamel hypoplasia, Downturned corners of mouth,...	OMIM:617052
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body weight, Omphalocele, Macroglossia, Increased body mass ...	OMIM:614450
Hamamy Syndrome	Inguinal hernia, Hypodontia, High palate, Everted lower lip vermilion, Enamel hypoplasia, Microgn...	OMIM:611174
Raine Syndrome	Gingival overgrowth, Mandibular prognathia, High palate, Narrow mouth, Microdontia, Protruding to...	OMIM:259775
Celiac Disease, Susceptibility To, 1	Recurrent aphthous stomatitis, Stomatitis, Enamel hypoplasia, Failure to thrive, Weight loss	OMIM:212750
Dysosteosclerosis	Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth	ORPHA:1782
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Acrootoocular Syndrome	Supernumerary tooth, Grayish enamel, High, narrow palate, Dental malocclusion, Delayed eruption o...	ORPHA:2980
Temtamy Syndrome	Long philtrum, Dental crowding, Micrognathia, Hypoplasia of teeth	OMIM:218340
Immunodeficiency 9	Amelogenesis imperfecta, Failure to thrive, Recurrent aphthous stomatitis, Stomatitis	OMIM:612782
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Broad alveolar ridges, Premature loss of teeth, Selective to...	OMIM:164200
Mandibuloacral Dysplasia	Lipoatrophy, Abnormal tongue morphology, Dental crowding, Loss of subcutaneous adipose tissue in ...	ORPHA:2457
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Everted lower lip vermilion, Microdontia, Delayed eruption of teeth	ORPHA:181
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral cleft palate, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal...	ORPHA:3253
Cole-Carpenter Syndrome 1	Micrognathia, Dentinogenesis imperfecta, Microdontia	OMIM:112240
Dysostosis, Stanescu Type	Abnormal palate morphology, Abnormal dental enamel morphology, Abnormality of the dentition, Toot...	ORPHA:1798
Hypocalcemic Vitamin D-Dependent Rickets	Enamel hypoplasia, Failure to thrive, Delayed eruption of teeth	ORPHA:289157
Scarf Syndrome	Long philtrum, Enamel hypoplasia, Inguinal hernia, Umbilical hernia	OMIM:312830
Codas Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:1458
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta	OMIM:613982
Orofaciodigital Syndrome I	Supernumerary tooth, High palate, Ankyloglossia, Agenesis of permanent teeth, Carious teeth, Enam...	OMIM:311200
Brittle Cornea Syndrome 1	Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Generalized lipodystrophy, Loss of truncal subcutaneous adi...	OMIM:608612
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Retrognathia, Periodontitis, Premature loss of teeth, Obesity, Dentinogenesis imperfecta, Delayed...	OMIM:619269
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal dental enamel morphology, Mandibular prognathia, Vaginal hernia, Cleft palate, Hypodonti...	ORPHA:2916
Cleidocranial Dysplasia 1	Narrow palate, Supernumerary tooth, High, narrow palate, Absent frontal sinuses, High palate, Hyp...	OMIM:119600
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
48,Xxxy Syndrome	Inguinal hernia, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognat...	ORPHA:96263
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Hypoplasia of teeth, Cleft palate, Microdontia, Widely spaced teeth	ORPHA:2728
Cole-Carpenter Syndrome	Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth	ORPHA:2050
Acrofacial Dysostosis, Weyers Type	Advanced eruption of teeth, Solitary median maxillary central incisor, Conical tooth, Abnormality...	ORPHA:952
Cleidocranial Dysplasia	Supernumerary tooth, High, narrow palate, Delayed eruption of teeth, Abnormal dental enamel morph...	ORPHA:1452
Seckel Syndrome	Abnormal dental enamel morphology, Micrognathia, Cachexia, Tooth agenesis	ORPHA:808
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Enamel hypoplasia, Retrognathia, Truncal obesity, Microdontia	OMIM:210720
Kilquist Syndrome	Hypoplasia of teeth, Mandibular prognathia, Wide mouth	OMIM:619080
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia, Omphalocele	OMIM:243150
Pde4D Haploinsufficiency Syndrome	Short philtrum, Abnormal dental enamel morphology, Mandibular prognathia, Hypoplasia of the maxil...	ORPHA:439822
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Smooth tongue, Atrophic scars, Enamel hypoplasia, Failure to thrive, Oral mucosal blisters	ORPHA:79396
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Mucopolysaccharidosis Type 4	Grayish enamel, Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, W...	ORPHA:582
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Knee flexion contracture, Mandibular prognathia, Elbow flexion contracture, Abno...	OMIM:151050
Osteogenesis Imperfecta, Type Xiii	Thin vermilion border, Decreased body weight, Dentinogenesis imperfecta, Umbilical hernia, Long p...	OMIM:614856
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Odontochondrodysplasia 1	Long philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth	OMIM:184260
Developmental And Epileptic Encephalopathy 100	Bilateral camptodactyly, Gingival overgrowth, Elbow flexion contracture, High palate, Microdontia...	OMIM:619777
Costello Syndrome	Narrow palate, Thick lower lip vermilion, Abnormal dental enamel morphology, Abnormality of the d...	ORPHA:3071
Osteogenesis Imperfecta, Type Iii	Micrognathia, Dentinogenesis imperfecta	OMIM:259420
Arthrogryposis And Ectodermal Dysplasia	Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Camptodactyly, Cleft upper lip, ...	OMIM:601701
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Umbilica...	OMIM:200990
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Carious teeth, Gingivitis	ORPHA:3194
Cockayne Syndrome A	Dental malocclusion, Mandibular prognathia, Hypoplasia of teeth, Carious teeth, Reduced subcutane...	OMIM:216400
Cole-Carpenter Syndrome 2	High palate, Dentinogenesis imperfecta, Microretrognathia	OMIM:616294
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Taurodo...	ORPHA:3220
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,...	ORPHA:1071
Cardiospondylocarpofacial Syndrome	High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition	ORPHA:3238
Usher Syndrome	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:886
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, High palate, Carious teeth, Hypoplasia of teeth, Bifid uvula, Wide mou...	OMIM:607812
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hypocalcification of dental enamel	ORPHA:169090
49,Xxxxy Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognathia, Open bite, C...	ORPHA:96264
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta	OMIM:610968
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Trichothiodystrophy	Retrognathia, High, narrow palate, Enamel hypoplasia, Absence of subcutaneous fat, Carious teeth,...	ORPHA:33364
Treacher-Collins Syndrome	Retrognathia, Abnormal dental enamel morphology, Open bite, Glossoptosis, Abnormality of the dent...	ORPHA:861
Codas Syndrome	Enamel hypoplasia, Omphalocele, Delayed eruption of teeth	OMIM:600373
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Inguinal hernia, Abnormal dental enamel morphology, Microdontia, Cleft palate, Hypo...	ORPHA:1812
Trichothiodystrophy 4, Nonphotosensitive	Hypoplasia of teeth, Retrognathia	OMIM:234050
Sanjad-Sakati Syndrome	Thin vermilion border, Abnormal dental enamel morphology, Abnormality of the dentition, Micrognat...	ORPHA:2323
Cenani-Lenz Syndrome	High, narrow palate, Short philtrum, Abnormal dental enamel morphology, Malar flattening, Hypodontia	ORPHA:3258
Congenital Disorder Of Glycosylation, Type Iim	Short philtrum, Mandibular prognathia, Exaggerated cupid's bow, High palate, Fused teeth, Enamel ...	OMIM:300896
Chronic Mucocutaneous Candidiasis	Abnormal dental enamel morphology, Cheilitis, Abnormal lip morphology	ORPHA:1334
Orofaciodigital Syndrome Type 2	Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central incisor, Abno...	ORPHA:2751
Pseudohypoparathyroidism Type 1C	Enamel hypoplasia, Obesity, Delayed eruption of teeth	ORPHA:79444
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thin vermilion border, Conical incisor, Maxillary lateral incisor microdontia, Micrognathia, Long...	ORPHA:73223
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity	ORPHA:251004
Nail-Patella Syndrome	Elbow flexion contracture, Enamel hypoplasia, Achilles tendon contracture, Flexion contracture, K...	ORPHA:2614
3M Syndrome	Long philtrum, Abnormal dental enamel morphology, Everted lower lip vermilion, Delayed eruption o...	ORPHA:2616
Pycnodysostosis	Narrow palate, Absent frontal sinuses, Persistence of primary teeth, Carious teeth, Micrognathia,...	OMIM:265800
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin vermilion border, Velopharyngeal insufficiency, Cleft palate, Enamel agenesis, Smooth philtr...	OMIM:614701
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Abnormal dental enamel morphology, Abnormality of the dentiti...	ORPHA:96169
Spondylocarpotarsal Synostosis Syndrome	Enamel hypoplasia, Cleft palate, Failure of eruption of permanent teeth, Inguinal hernia	OMIM:272460
Rothmund-Thomson Syndrome	Supernumerary tooth, Delayed eruption of teeth, Abnormal dental enamel morphology, Selective toot...	ORPHA:2909
Cranioectodermal Dysplasia 1	High, narrow palate, Widely spaced teeth, Inguinal hernia, High palate, Everted lower lip vermili...	OMIM:218330
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Loss of subcutaneous adipose tissue in limbs, Elbow flexion contracture, Increas...	OMIM:248370
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal palate morphology, Abnormal dental enamel morphology, Abnormal dental morphology, Microg...	ORPHA:85199
Mucopolysaccharidosis, Type Iva	Grayish enamel, Widely spaced teeth, Inguinal hernia, Mandibular prognathia, Carious teeth, Wide ...	OMIM:253000
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Inguinal hernia, Dental crowding, High palate, Hypoplasia of teeth, Micrognathia, O...	OMIM:620654
Rubinstein-Taybi Syndrome 1	Narrow palate, Retrognathia, High, narrow palate, Dental crowding, Narrow mouth, Talon cusp, High...	OMIM:180849
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypoplasia of the tooth germ, Micrognathia, Bifid uvula, Contracture of the proximal interphalang...	ORPHA:293967
Rothmund-Thomson Syndrome, Type 2	Supernumerary tooth, Delayed eruption of teeth, Mandibular prognathia, High palate, Microdontia, ...	OMIM:268400
Cherubism	Narrow palate, Dental malocclusion, Oligodontia, Jaw swelling, Macular scar, Multiple impacted te...	OMIM:118400
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Cockayne Syndrome	Cachexia, Congenital contracture, Abnormal dental morphology, Reduced subcutaneous adipose tissue...	ORPHA:191
Mucopolysaccharidosis, Type Ivb	Grayish enamel, Widely spaced teeth, Inguinal hernia, Mandibular prognathia, Carious teeth, Wide ...	OMIM:253010
Pseudohypoparathyroidism Type 1A	Enamel hypoplasia, Obesity, Delayed eruption of teeth	ORPHA:79443
Cranioectodermal Dysplasia 3	Hypoplasia of teeth, Micrognathia, Widely spaced teeth, Everted lower lip vermilion	OMIM:614099
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology	ORPHA:1005
Oculodentodigital Dysplasia	Broad alveolar ridges, Abnormal dental enamel morphology, Non-midline cleft of the upper lip, Man...	ORPHA:2710
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Dental malocclusion, High palate, Paranasal sinus hypoplasia, Hypoplasia of teet...	OMIM:603457
Lacrimoauriculodentodigital Syndrome	Orofacial cleft, Abnormal salivary gland morphology, Abnormal dental enamel morphology, Abnormali...	ORPHA:2363
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Cockayne Syndrome Type 3	Enamel hypoplasia, Carious teeth, Flexion contracture	ORPHA:90324
Orofaciodigital Syndrome Type 1	Broad alveolar ridges, Abnormal dental enamel morphology, Open bite, High palate, Abnormality of ...	ORPHA:2750
Hypomagnesemia 3, Renal	Amelogenesis imperfecta, Enamel hypoplasia, Failure to thrive, Hypomature enamel	OMIM:248250
Osteogenesis Imperfecta, Type X	Micrognathia, Dentinogenesis imperfecta, Inguinal hernia, Malar flattening	OMIM:613848
Severe Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Abnormal oral mucosa morphology, Failure to thrive, Erosion of oral mucosa	ORPHA:79404
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Lowe Oculocerebrorenal Syndrome	Corneal scarring, Camptodactyly of finger, Enamel hypoplasia, Failure to thrive, Keloids, Joint c...	OMIM:309000
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization	OMIM:307800
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Inguinal hernia, Abnormal adipose tissue morphology, Abnormal de...	ORPHA:2092
Cockayne Syndrome B	Severe failure to thrive, Dental malocclusion, Mandibular prognathia, Hypoplasia of teeth, Cariou...	OMIM:133540
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Wide mouth, Inguinal hernia, Elbow flexion contracture, Failure to thrive, Deep ...	OMIM:619503
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Abnormal dental enamel morphology, High palate, Abnormality of the den...	ORPHA:221016
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Micro...	ORPHA:221008
Branchioskeletogenital Syndrome	Thin vermilion border, Short philtrum, Rootless teeth, Premature loss of teeth, Abnormal dentin m...	ORPHA:1299
Kindler Epidermolysis Bullosa	Cheilitis, Periodontitis, Abnormal dental enamel morphology, Gingivitis, Carious teeth, Premature...	ORPHA:2908
Oculocerebrorenal Syndrome Of Lowe	Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Umbilical hernia, Long p...	ORPHA:534
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Inguinal hernia, Delayed eruption of teeth, Oligodontia, Omphalo...	OMIM:305600
Stickler Syndrome	Advanced eruption of teeth, Short hard palate, Abnormal dental enamel morphology, Cachexia, Open ...	ORPHA:828
Incontinentia Pigmenti	Orofacial cleft, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental mo...	ORPHA:464
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Weight loss	ORPHA:79430
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Widely spaced teeth, Dental crowding, Mandibular prognathia, Hig...	OMIM:618371
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Inguinal hernia	OMIM:610915
Eec Syndrome	Orofacial cleft, Abnormal dental enamel morphology, Microdontia, Tooth agenesis, Carious teeth, C...	ORPHA:1896
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Inguinal hernia, Abnormal dental enamel morphology, Mandibular prognathia, F...	ORPHA:2658
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Conical incisor, Aplasia of the parotid gland, Microdontia, Carious teet...	OMIM:149730
Tuberous Sclerosis 1	Shagreen patch, Dental enamel pits, Gingival fibromatosis	OMIM:191100
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atrophic scars, High palate, Microdontia, Carious teeth, Micrognathia, Dentinogenesis imperfecta,...	ORPHA:536467
X-Linked Hypophosphatemia	Abnormal dentin morphology, Tooth abscess, Enthesitis, Cellulitis, Odontodysplasia	ORPHA:89936
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Supernumerary tooth, Advanced eruption of teeth, Abnormal dental...	ORPHA:818
Osteogenesis Imperfecta	Inguinal hernia, Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel m...	ORPHA:666
Ramon Syndrome	Narrow palate, Decreased body weight, Delayed eruption of teeth, Gingival fibromatosis	OMIM:266270
22Q11.2 Deletion Syndrome	Short philtrum, Inguinal hernia, Abnormal dental enamel morphology, Narrow mouth, Abnormality of ...	ORPHA:567
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Camptodactyly of 2nd-5th fingers, Delayed eruption of teeth, Ing...	OMIM:601803
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Retrognathia, Abnormal dental enamel morphology, Mandibular apla...	ORPHA:2556
Tetrasomy 9P	Amelogenesis imperfecta, Abnormal number of permanent teeth, Short philtrum, Dental crowding, Abn...	ORPHA:3310
Proximal Renal Tubular Acidosis	Failure to thrive, Enamel hypomineralization	ORPHA:47159
Singleton-Merten Syndrome 1	Hypoplasia of the tooth germ, Eruption failure, Decreased body weight, Short dental root, Hypopla...	OMIM:182250
Familial Adenomatous Polyposis	Supernumerary tooth, Lipoma, Eruption failure, Odontoma, Abnormality of the dentition, Abnormal c...	ORPHA:733
Osteogenesis Imperfecta, Type Vii	Long philtrum, Dentinogenesis imperfecta	OMIM:610682
Williams Syndrome	Thick lower lip vermilion, Dental malocclusion, Inguinal hernia, Hypodontia, Abnormal dental enam...	ORPHA:904
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Inguinal hernia, Abnormal dental enamel morphology, Omphalocele, Camptodactyly of fing...	ORPHA:2273
Proteus Syndrome	Abnormal subcutaneous fat tissue distribution, Lipoma, Abnormal dental enamel morphology, Cachexi...	ORPHA:744
Johanson-Blizzard Syndrome	Hypoplasia of the primary teeth, Failure to thrive, Downturned corners of mouth, Long philtrum, A...	OMIM:243800

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 Wdr72

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 Wdr72.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
WDR72 regulates vesicle trafficking in ameloblasts.	Scientific reports (February 2022)	Wdr72^{tm1a(KOMP)Wtsi}	PMC8857301
WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.	Matrix biology : journal of the International Society for Matrix Biology (July 2014)	Wdr72^{tm1a(KOMP)Wtsi}	PMC4185229

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Wdr72^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Wdr72^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Wdr72^{tm42376(L1L2_Pgk_PM)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Wdr72^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Wdr72^{tm42376(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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