Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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 (336 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		Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211

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

Disease	Matching phenotypes	Source
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Atrophic scars, Enamel hypoplasia, Failure to thrive	OMIM:226700
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	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	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Hall-Riggs Syndrome	Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape...	OMIM:234250
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious...	OMIM:618363
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture	OMIM:203550
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Obesity	OMIM:612463
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79405
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue	OMIM:226670
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Teeth Present At Birth	Natal tooth	OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat...	ORPHA:3019
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia	ORPHA:2643
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79406
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
48,Xyyy Syndrome	Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia	ORPHA:99329
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79411
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename...	OMIM:613823
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
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
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia	OMIM:212780
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia	OMIM:612843
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo...	OMIM:253250
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h...	OMIM:618874
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti...	ORPHA:69087
Taurodontism	Taurodontia	OMIM:272700
Braddock-Carey Syndrome 1	Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod...	OMIM:619980
Congenital Disorder Of Glycosylation, Type Iik	Malar flattening, Failure to thrive, Amelogenesis imperfecta	OMIM:614727
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli...	OMIM:618727
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s...	ORPHA:90322
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology	ORPHA:59303
Snijders Blok-Campeau Syndrome	Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia	OMIM:618205
Oculoskeletodental Syndrome	Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia	ORPHA:557003
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,...	ORPHA:1133
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypoplasia of teeth	OMIM:613312
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79409
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	OMIM:226730
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ...	ORPHA:79410
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia, Obesity	OMIM:612462
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v...	ORPHA:1515
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide...	OMIM:619293
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia, Obesity	OMIM:103580
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl...	ORPHA:763
Immunodeficiency 9	Stomatitis, Failure to thrive, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Qazi-Markouizos Syndrome	High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth	ORPHA:3010
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda...	OMIM:618761
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename...	OMIM:226600
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Camptodactyly, Flexion contracture, Accessory oral frenulum, Hypoplasia of teeth	ORPHA:88630
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion border, Hypodo...	OMIM:619184
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Rapp-Hodgkin Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Obesity, High palate, Malar flattening	ORPHA:2180
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive, Carious teeth	OMIM:277440
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi...	ORPHA:10
Scarf Syndrome	Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ...	ORPHA:3134
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr...	OMIM:210600
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormality of the dentition, Wide mouth, Enamel hypoplasia, Failure to thrive, Bifid uvula	OMIM:615802
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Specific Granule Deficiency 2	Amelogenesis imperfecta, Tooth malposition, Failure to thrive, Conical tooth	OMIM:617475
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Xfe Progeroid Syndrome	Cachexia, Absence of subcutaneous fat, Corneal scarring, Premature loss of teeth, Failure to thri...	OMIM:610965
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Enamel hypoplasia, Retrognathia	OMIM:614576
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Obesity, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick verm...	OMIM:620250
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive	OMIM:264700
Ohdo Syndrome	Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo...	OMIM:249620
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Overweight, Obesity, Widely spaced teeth, Yellow-brown ...	OMIM:619229
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor...	ORPHA:90321
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Oligodontia, Hypodontia, Enamel hypoplasia	OMIM:607626
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Dorsocervical fat pad, Small for gestational age, Micrognathia, Hypopla...	ORPHA:391408
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Bone Marrow Failure Syndrome 3	Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia, Microdontia, Enamel hy...	OMIM:617052
Short Syndrome	Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:3163
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Omphalocele, Increased body weight, Macrogl...	OMIM:614450
Hamamy Syndrome	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa...	OMIM:611174
Celiac Disease, Susceptibility To, 1	Weight loss, Recurrent aphthous stomatitis, Stomatitis, Enamel hypoplasia, Failure to thrive	OMIM:212750
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive	ORPHA:289157
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Raine Syndrome	Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p...	OMIM:259775
Acrootoocular Syndrome	Delayed eruption of teeth, Small for gestational age, Micrognathia, Grayish enamel, High, narrow ...	ORPHA:2980
Temtamy Syndrome	Long philtrum, Dental crowding, Hypoplasia of teeth, Micrognathia	OMIM:218340
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou...	ORPHA:2457
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn...	ORPHA:3253
Scarf Syndrome	Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Long philtrum	OMIM:312830
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1458
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario...	ORPHA:1798
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi...	OMIM:608612
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala...	ORPHA:2916
Cole-Carpenter Syndrome 1	Microdontia, Dentinogenesis imperfecta, Micrognathia	OMIM:112240
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth	ORPHA:2728
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Brittle Cornea Syndrome 1	Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu...	OMIM:311200
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol...	ORPHA:96263
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Seckel Syndrome	Tooth agenesis, Abnormal dental enamel morphology, Cachexia, Micrognathia	ORPHA:808
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microdontia, Truncal obesity, Enamel hypoplasia, Retrognathia	OMIM:210720
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Obesity, Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathi...	OMIM:619269
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Enamel hypoplasia	OMIM:243150
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,...	ORPHA:439822
Kilquist Syndrome	Mandibular prognathia, Wide mouth, Hypoplasia of teeth	OMIM:619080
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Oral mucosal blisters, Atrophic scars, Smooth tongue, Enamel hypoplasia, Failure to thrive	ORPHA:79396
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Osteogenesis Imperfecta, Type Xiii	Thin vermilion border, Decreased body weight, Umbilical hernia, Dentinogenesis imperfecta, Long p...	OMIM:614856
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W...	ORPHA:582
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the dentition, Elbow flexion...	OMIM:151050
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:94089
Odontochondrodysplasia 1	Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum	OMIM:184260
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi...	OMIM:619777
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Costello Syndrome	Failure to thrive in infancy, Abnormal dental enamel morphology, Abnormality of the dentition, Th...	ORPHA:3071
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Atypical scarr...	OMIM:601701
Corneodermatoosseous Syndrome	Carious teeth, Abnormal dental enamel morphology, Gingivitis	ORPHA:3194
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti...	ORPHA:3220
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ...	OMIM:216400
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hypocalcification of dental enamel	ORPHA:169090
Cole-Carpenter Syndrome 2	Microretrognathia, High palate, Dentinogenesis imperfecta	OMIM:616294
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t...	OMIM:607812
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96264
Usher Syndrome	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:886
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta	OMIM:610968
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Trichothiodystrophy	Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar...	ORPHA:33364
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Treacher-Collins Syndrome	Branchial fistula, Failure to thrive, Abnormal dental morphology, Abnormal dental enamel morpholo...	ORPHA:861
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon...	ORPHA:1812
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Thin vermilion bor...	ORPHA:2323
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Enamel hypoplasia, Obesity	ORPHA:79444
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Omphalocele	OMIM:600373
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flattening	ORPHA:3258
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v...	ORPHA:73223
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity	ORPHA:251004
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Selectiv...	ORPHA:2909
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology	ORPHA:1334
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Dental crowdin...	OMIM:248370
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate...	OMIM:614701
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Narrow pala...	ORPHA:96169
3M Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p...	ORPHA:2616
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Inguinal hernia, Enamel hypoplasia, Cleft palate	OMIM:272460
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cleft palate, Wide m...	ORPHA:85199
Cranioectodermal Dysplasia 1	Inguinal hernia, High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermili...	OMIM:218330
Rubinstein-Taybi Syndrome 1	Thin upper lip vermilion, Failure to thrive, Dental crowding, Small for gestational age, Microgna...	OMIM:180849
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Micrognathia, Supern...	OMIM:268400
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Enamel hypoplasia, Obesity	ORPHA:79443
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Hypoplasia of the tooth germ...	ORPHA:293967
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ...	OMIM:253000
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Cranioectodermal Dysplasia 3	Everted lower lip vermilion, Widely spaced teeth, Hypoplasia of teeth, Micrognathia	OMIM:614099
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology	ORPHA:1005
Oculodentodigital Dysplasia	Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri...	ORPHA:2710
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet...	ORPHA:191
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena...	ORPHA:2363
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl...	OMIM:603457
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ...	OMIM:253010
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization	OMIM:307800
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Micrognathia, Open ...	ORPHA:2750
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con...	ORPHA:79408
Cockayne Syndrome Type 3	Carious teeth, Enamel hypoplasia, Flexion contracture	ORPHA:90324
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Abnormal...	ORPHA:221016
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Abnormal...	ORPHA:221008
Osteogenesis Imperfecta, Type X	Malar flattening, Inguinal hernia, Dentinogenesis imperfecta, Micrognathia	OMIM:613848
Severe Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Failure to thrive, Erosion of oral mucosa, Abnormal oral mucosa morphology	ORPHA:79404
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Corneal scarring, Keloids, Enamel hypoplasia, Joint c...	OMIM:309000
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Cong...	ORPHA:2092
Branchioskeletogenital Syndrome	Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m...	ORPHA:1299
Cockayne Syndrome B	Mandibular prognathia, Reduced subcutaneous adipose tissue, Small for gestational age, Delayed er...	OMIM:133540
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Flexion contracture, Knee fl...	OMIM:619503
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A...	ORPHA:534
Stickler Syndrome	Slender build, Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxil...	ORPHA:828
Focal Dermal Hypoplasia	Omphalocele, Delayed eruption of teeth, Inguinal hernia, Congenital diaphragmatic hernia, Cleft u...	OMIM:305600
Kindler Epidermolysis Bullosa	Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodactyly of finger, Cari...	ORPHA:2908
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod...	ORPHA:464
Osteogenesis Imperfecta, Type Viii	Inguinal hernia, Dentinogenesis imperfecta	OMIM:610915
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Weight loss	ORPHA:79430
Eec Syndrome	Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, Tooth agenesis, ...	ORPHA:1896
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, High, ...	ORPHA:2658
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Failure to thrive, Dental crowding, Abnormality ...	OMIM:618371
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Shagreen patch	OMIM:191100
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Carious teeth, Atrophic scars, High palate, Long philt...	ORPHA:536467
X-Linked Hypophosphatemia	Odontodysplasia, Enthesitis, Cellulitis, Tooth abscess, Abnormal dentin morphology	ORPHA:89936
Smith-Lemli-Opitz Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, M...	ORPHA:818
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Inguinal hernia, Small for gestational ag...	ORPHA:666
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Decreased body weight	OMIM:266270
22Q11.2 Deletion Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, C...	ORPHA:567
Tetrasomy 9P	Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morphology, Median cl...	ORPHA:3310
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta...	OMIM:182250
Proximal Renal Tubular Acidosis	Failure to thrive, Enamel hypomineralization	ORPHA:47159
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognath...	ORPHA:2556
Pallister-Killian Syndrome	Omphalocele, Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Delayed erupt...	OMIM:601803
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c...	ORPHA:733
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Williams Syndrome	Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Failure to thrive...	ORPHA:904
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Camptodactyly of finger, Abnormal dental enamel morphology, Cheilit...	ORPHA:2273
Proteus Syndrome	Abnormal dental enamel morphology, Cachexia, Carious teeth, Abnormal subcutaneous fat tissue dist...	ORPHA:744
Johanson-Blizzard Syndrome	Small for gestational age, Agenesis of permanent teeth, Downturned corners of mouth, Long philtru...	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^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Wdr72^{tm42376(L1L2_Pgk_PM)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us